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Cavan Tommy Hoey Trust Blast Ulster Leaders
17/2/2013 7:14:36 PM

Charity for rare diseases blasts Ulster leaders over EU consultation 'failure'

 

A CHARITY dedicated to helping those with rare diseases has hit out at the Health Minister and MLAs for failing Northern Ireland in the provision of services to those who have rare diseases.

Members of the charity point out that only one of our elected representatives -ndash; East Belfast MP Naomi Long -ndash; made a representation to the consultation process.

Terry Hoey, President of the Cavan Hoey Trust, whose grandson suffers from x-linked lymphoproliferative syndrome (XPL) and Epstein-ndash;Barr virus (EBV), said: "There has been a lot of work from EU member states on a rare disease consultation [The Krakow 2010 European Conference on Rare Disease].

"I've been trying to find out why our MLAs didn't do a consultation themselves.

"Every country in the EU took part in this, including the UK."

He said that the Northern Ireland NHS was devolved to the Northern Ireland Assembly, so it's well within the Health Minister's remit to take action on the issue -ndash; or at least to have taken part in the EU consultation process.

"The NHS took part and the British government did too, but when it came to Northern Ireland -ndash; Northern Ireland didn't take part in it," he said.

"Our Assembly left it to other UK groups to do it. On reading the responses to the consultation it looks as if Northern Ireland hasn't to look after anything to do with rare diseases.

"And we're talking about major diseases here, some ultra-rare diseases."

A DHSSPS spokesperson said: "The Department of Health in London has taken the lead for the UK in responding to this recommendation from the Council with input and agreement from the three devolved administrations' health departments including the Department of Health, Social Services and Public Safety in Northern Ireland.

"Northern Ireland has therefore been fully engaged in this work. A UK-wide public consultation on the rare diseases plan concluded in May 2012 and the consultation responses were published by the Department of Health (London) on November 16, 2012. Work has now commenced to produce the final UK Plan by mid-2013 in line with the European Council Recommendation. The Department of Health in London represented the UK's interests at the 5th European Conference on Rare Diseases.

Terry said: "The UK NHS has 36 units to deal with rare diseases. In the consultation document it says that because the Republic of Ireland is another member state, we in Northern Ireland could link up with them -ndash; they don't have a unit dedicated to rare diseases either."

"I can't believe every other country in the EU had representatives but we didn't -ndash; the consultation has been going on for years. And we've got MLAs who are MEPs who should have been looking after us in the EU. There are four lines relating to Northern Ireland in the entire consultation document," said Terry.

Chair of the Cavan Hoey Trust, Godfrey Brockgadd, said that attempts to use facilities in the Republic would be difficult for political reasons but that "there shouldn't be a border when it comes to a child's life being on the line".

Terry added: "This is a very important situation in Northern Ireland. MLAs have shown that they have their heads buried in the sand on this issue and the issue needs to be highlighted or our lives won't be worth anything."

His wife, Maureen said: "I'm glad that Cavan lived in England -ndash; even there his diagnosis took longer, but we're lucky he lives where he does. The resources we have at the minute are not enough and it could take years for Northern Ireland to catch up with Great Britain."

A DHSSPS spokesperson said:"Given the unique nature of each of the diseases concerned and the very limited numbers of sufferers, it is not envisaged that future developments will give rise to any significant change in the approach to treating rare diseases.

"The way forward is likely to be characterised by a greater degree of co-operation in terms of diagnosis, treatment, codification, research, development of specialised drugs and centres of expertise between those involved in treating sufferers in Northern Ireland and their counterparts in the rest of the EU and beyond."

 

HLH Another little histio warrior
8/2/2013 10:02:12 PM

Siblings sacrifice to save brother with one-in-a-million disease

 
Siblings sacrifice to save brother with one-in-a-million disease
 

Liam Smith is literally one in a million, according to his doctor. The 2-year-old from Seattle was born with an incredibly rare, potentially fatal immune disorder. But Liam’s three older brothers are doing everything they can to save their baby brother.

Doctors say Liam’s best chance at survival is a bone marrow transplant, and he is lucky to have two excellent matches in his brothers. His first transplant failed, so doctors are now preparing Liam for a second attempt while his brothers give up everything from sports to their hair to help.

“They are standing strong in this storm, but not without fear, for Liam,” said Kristina Smith, the boys' mother.

Liam has hemophagocytic lymphohistiocytosis - better known as HLH - a disorder in which his immune system goes into overdrive and attacks his body.

Dr. Paul Carpenter, Liam’s physician at Seattle Children's Hospital, said the disorder most often appears in infants and causes fevers, massive inflammation and, eventually, organ failure. It is so rare that it only affects about one out of a million children. 

Liam first became ill when he was just 28 days old. Kristina said her son developed a high fever and within 24 hours was on life support.

“It’s a really horrible, fast-moving disease," she said.

If left untreated, HLH is fatal. The only cure is a bone marrow or cord blood transplant.

Many children struggle to find one donor that is a good match. Liam is lucky to have two under his own roof – his brothers Hunter and Noa.

When doctors first discovered Liam’s condition, his 8-year-old brother Hunter enthusiastically offered to donate his bone marrow.

"He really wanted to do it," Kristina says. "My boys are so selfless. It inspires me everyday to be a better person."

Liam underwent a regimen of steroids, immunosuppressants and chemotherapies to get his disease into remission before doctors at Children’s Hospital injected him with Hunter’s bone marrow.

Liam responded well and seemed to be cured until a year and a half later when his body rejected the donated marrow and his HLH symptoms returned.

"He was so sick," Kristina says. "He had a temperature of 104 for a week straight. His spleen and liver were huge, and there was fluid in stomach."

Now, doctors are planning another transplant with Liam using bone marrow from 11-year-old Noa.

To increase the chances of success, Liam is being given a stronger drug regimen this time around. Kristina said her son is experiencing "roid rage," lack of sleep, stomach upset, hair loss, weight gain, and anxiety.

"It's kicking his butt," Kristina said. "It takes a lot out of him."

Noa has to temporarily stop playing sports so he does not get injured before donating bone marrow. And all the boys have to be careful not to get sick with infections they could pass on to Liam.

To keep Liam’s spirits up, the three brothers recently shaved their heads to match him.

"I have four superheroes," Kristina said. "I can't describe how proud I am of them."

The single mother of four said she is spending most of her days with Liam at Children’s Hospital, often showering at the Ronald McDonald House.

":I just get up every day and hope God gives me the strength to get through it.".

The family has is feeling the financial burden of Liam’s treatment. Kristina admits she can’t afford to repair the motocross bike her son Noa would love to ride again after Liam’s transplant.

"All I want to be able to do is provide for my boys," she said. "They need to so badly have something positive that isn’t surrounded by this illness."

Doctors anticipate Liam will undergo his transplant in about a month. If it is successful, he should live a normal, healthy life.

"After the transplant he won’t be nearly as sick," Carpenter said. "He should feel normal."

The Smith family is dreaming of the day when they will be out of the hospital and celebrating. The kids have suggested a trip to Disneyland.

"My boys need a much deserved vacation when this is all done and over with,” Kristina said.

In the meantime, Kristina hopes to increase awareness of HLH.

"If kids aren't diagnosed early they're gone," Kristina says. "Providers have to be aware of this disease so these kids can have a fighting chance."

Because HLH can be genetic, Carpenter urges any parents who have lost a newborn child from an unexplained illness to have their other children tested for disorder.

Readers can follow the Smith family on their facebook page "Liam's HLH Journey."

Gene Therapy Hopes for X-linked Lymphoproliferative Disease
8/2/2013 7:18:01 PM

Gene Therapy Hopes for X-linked Lymphoproliferative Disease

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Friday, April 13, 2012

Sufferers of the rare genetic disorder X-linked lymphoproliferative have a double dose of good news with the release of a new study by researchers at the Garvan Institute that might lead to a genetic therapy.

X-linked lymphoproliferative (XLP) is a rare genetic disorder that leaves sufferers particularly vulnerable to the Epstein-Barr Virus (EBV), so much so that infection can be lethal.

It is caused by mutations in SH2D1A and XIAP (BIRC4), which are associated with proper function of key immune cells, T cells and natural killer T cells as well as memory B cells.

Individuals with XLP often succumb before the age of 10, with the majority having a life expectancy of less than 40 years. However, some patients live to 50 and beyond. The question was: why?

Dr Umaimainthan Palendira and Associate Professor Stuart Tangye, from the Garvan Institute of Medical Research in Sydney found that in longer-living patients the mutated gene had reverted to its normal form.

The reversion also affected effector T cells, lending the individuals some measure of protection against EBV.

The discovery not only sheds light on the origins of XLP, but also offers hope that a gene therapy might be devised that could aid XLP sufferers.

“Somatic reversion is a fascinating clinical phenomenon, which has been characterised in a handful of other rare diseases, but never before seen in XLP,” said Associate Professor Stuart Tangye.

“Our finding highlights the importance of effector T cells in the case of XLP. This is clinically relevant because it tells us that you only need a small population of cells that are functionally capable of responding to EBV to give you good immune protection.

“If XLP patients were to receive gene therapy in future, it should be possible to confer some protection by getting the gene into a only a small number of effector T cells – a very targeted therapy.

“Gene therapy normally works by modifying bone marrow stem cells – the precursor cells which give rise to all of your blood cells, including T cells, B cells, platelets and macrophages.

“In this case, you would insert the normal gene only into naïve T cells, those T cells which have never seen infection before. When these precursor cells then encounter EBV infection, they would divide and multiply, giving rise to effector T cells, which actually work against EBV.

“While we don’t yet know exactly how somatic reversion works in XLP, we can see that it does, and that fact has clinical implications for the future.”

Source: Life Scientist

 

 
The Facts CheckOrphan Newsletter
5/2/2013 3:24:48 PM

12 Neglected Tropical Diseases Everyone Should Know

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Tuesday, February 5, 2013

As the name suggests, neglected tropical diseases (NTDs) are not widely known about nor understood. Did you know, for example, that NTDs affect the lives of billions people? Or that they are called neglected tropical diseases because they thrive in tropical regions, affect primarily poor populations in rural sub-Saharan Africa and have traditionally featured low on the list of donor priorities?

Malaria Consortium has been using its technical expertise and practical experience in global health programming to support the control and eventual elimination of NTDs in sub-Saharan Africa.

Here is a list of 12 of the most common NTDs and some interesting facts about each.

Soil-transmitted helminths (intestinal worms)Soil-transmitted helminths (intestinal worms)

An umbrella term to cover infection from three types of intestinal worm (hook worm, round worm and whip worm). The infection is transmitted through exposure to worm eggs in soil, either by ingesting them from unclean hands or by penetration through the skin when walking bare foot on contaminated soil. The worms live in the digestive tract of the host and lead to anaemia, stunted growth, poor nutrition, and can negatively impact the education of school children. Safe, cheap oral drugs can effectively clear STH infection, but re-infection after treatment is common.

Did you know: These three soil-transmitted helminth diseases combined are the most common NTD, affecting over a billion people?

Lymphatic filariasis (elephantiasis)Chronic lymphatic filariasis

A disease which is spread to humans through mosquito bites. At present there are one billion people at risk worldwide with 120 million known to be infected, mostly in tropical regions. Treatment with a combination of two drugs can prevent transmission, while mosquito control such as the use of insecticide treated nets and indoor spraying can also prevent new infections. Its visible manifestations occur later in life, causing temporary or permanent disability.

Did you know: Elephantiasis is one of the leading causes of disability worldwide?

Schistosomiasis (bilharzia)Schistosomiasis (bilharzia)

A disease caused by parasites released from snails in fresh water. It can cause life-threatening urinary or liver damage and cancers. Currently, 76 million children need annual treatment with the drug praziquantel to kill the parasite that causes schistosomiasis. A solution is to improve sanitation to prevent human waste entering water, breaking the life cycle of the parasite.

Did you know: The Egyptian Aswan Dam project was responsible for a seven fold increase in schistosomiasis cases in Egypt in the 1960s?

Blinding trachomaTrachoma

An infection that leads to scarring of the inner eyelid, causing the eyelashes to turn inwards and scratch the surface of the eye (trichiasis). This makes blinking extremely painful and, if left untreated, eventually causes blindness. More than 40 million people across the globe are currently at risk of infection. Antibiotics can kill the infection causing trachoma and prevent trichiasis from developing and a simple surgical procedure can assist people already suffering trichiasis. Facial flies are thought to transfer the infection from person to person. Simple interventions such as washing children's faces daily may reduce the risk of trachoma. Click here to see our photo gallery on preventing blindness from Trachoma in South Sudan

Did you know: Trichiasis sufferers often pull out their eyelashes to relieve the pain but the relief is short lived as eyelashes often grow back stronger and rougher than before?

Leishmaniasis

A disease transmitted to humans through the bite of a female sand fly. There are different forms of the disease: cutaneous leishmaniasis which causes skin lesions; mucocutaneous leishmaniasis which affects soft tissue of the nose and mouth; and visceral leishmaniasis (blackwater fever) which affects internal organs and can be fatal. The disease can be found in 88 countries affecting over 12 million people.

Did you know: Leishmaniasis also affects mammals such as dogs, which is severely hampering efforts to eliminate the disease?

Chagas disease (American trypanosomiasis)

Estimated to affect 10 million people worldwide, this is an insect-borne parasite transmitted through insect faeces. It causes irreversible damage to the heart, oesophagus and colon, and can be fatal. The best form of prevention is insecticidal spraying or using insecticide treated paints.

Did you know: Historically chagas has been called the kissing disease as the insects have a tendency to bite at the corner of the mouth?

Yaws (frambesa tropica)Yaws (frambesa tropica)

A bacterial skin disease, causing weeping lesions which can lead to chronic disfigurement and disability. Transmitted through contact with an infected lesion, it can be cured by a single antibiotic treatment. Primarily affects children under the age of 15. Yaws can be prevented by preventive drugs and improved personal hygiene. Reporting on Yaws is difficult as official data are not available. However, the latest WHO estimate stated that 2.5 million people were infected.

Did you know: The main cause for the spread of yaws outside Africa was the slave trade?

River blindness (onchocerciasis)

A disease caused through an infection by a parasitic worm and transmitted to humans by the black fly. About 500,000 people are thought to be blind as a result of this disease, mostly in sub-Saharan Africa. Treatment and prevention are currently managed through mass drug distributions twice a year in affected areas. Before this became the primary control tool, insecticide spraying of fast-flowing rivers to target the black fly breeding sites was used to eliminate black fly in many parts of west Africa.

Did you know: In certain West African communities river blindness affects 50 percent of males over the age of 40?

Dengue

A mosquito-borne infection found in tropical and sub-tropical regions around the world, dengue has become a major international public health concern. The infection causes flu-like symptoms and occasionally develops into a potentially lethal complication called severe dengue. The global incidence of dengue has grown dramatically in recent decades, with more than 2.5 billion people – over 35 percent of the world's population – now at risk from the disease. WHO currently estimates there may be 50–100 million dengue infections every year. There is no specific treatment for dengue or severe dengue, but early detection and access to proper medical care lowers fatality rates below 1 percent.

Did you know: At present, the only method to control or prevent the transmission of dengue virus is to combat the mosquitoes carrying the disease?

Leprosy

A debilitating illness that affects the nerves, leprosy is passed from person to person by droplets from the nose and mouth of untreated patients with severe disease. Notorious for its age old social stigma, it often leads to delays in reporting and prevention of early treatment. Current treatments are highly effective; however, many are forced to live with disability if the disease is not treated early enough. There are estimated to be 213,000 cases left in 17 countries - a 90 percent reduction since 1985.

Did you know: Evidence of leprosy has been found in skeletons from the ancient Near East and became a common disease in Europe in medieval times?

Sleeping sickness (human African trypanosomiasis)

Affecting less than 10,000 people today, sleeping sickness is a disease transmitted by tsetse flies in sub-Saharan Africa. In later stages, parasites invade the central nervous system causing fatigue during the day, insomnia at night, manic episodes and, if untreated, death. Active in 36 African countries, the disease had almost disappeared in the 1960s, but relaxation in surveillance led to a resurgence and it is only now beginning to decline again.

Did you know: One of the most commonly used treatments is derived from arsenic and kills up to 10 percent of patients?

Guinea worm (dracunculiasis)

A disease transmitted through contaminated drinking water. It is characterised by painful lesions, often on the leg, through which the worm exits to release larvae. The number of people affected by guinea worm has been drastically reduced from more than 3.5 million in the mid-1980s to fewer than 1,000 people worldwide today. There is no medicine to treat guinea worm; transmission can only be halted by preventing people drinking guinea worm contaminated water. The eradication campaign has been a big success thanks to distribution of filters (often straws with in-built cloth filters) to block ingestion of worm larvae. It is highly likely that guinea worm will be the first human parasitic disease in history to be eradicated, and the first disease to be eradicated without a vaccine. Once it is eradicated in humans it will no longer exist in nature.

Did you know: Guinea worm is one of the best documented historic diseases with accounts dating back to the 2nd century BC, when it was called 'The Little Dragon'?

Source: The Guardian

 

 
Change of Venue Rare Disease Day 28th February2013
5/2/2013 2:29:50 PM

Dear IPPOSI Members,

 

IMPORTANT NOTE - VENUE CHANGE FOR RARE DISORDERS WITHOUT BORDERS

 

REGISTRATION OPEN

 

Due to a huge demand for places at this year’s Rare Disease Day event, Rare Disorder Without Borders The organising committee approached our venue sponsor Dublin City Council who has kindly offered Dublin City Hall as an alternative venue to accommodate 200 delegates. 

The event will now take place at Dublin City Hall, Dame Street, Dublin 2 at 9am (registration from 8am) on the same date the 28th of February.

The event will not be held at the Wood Quay Venue. Please note this change in your diary.

REGISTRATION for the event is open. To register please visit http://rarediseaseday.eventbrite.ie and register under the appropriate category.

 

All registrations must be made directly online in order to secure a place.

 

A full programme for this All Ireland Conference will be published next week but we are pleased to confirm that the conference will be jointly opened by Minister Edwin Poots MLA, Minister of the Department of Health, Social Services and Public Safety in the Northern Ireland Executive and Minister Alex White TD, Minister of State for Primary Care in the Department of Health in the Irish Government.

 

Belfast Telegraph News Report
5/2/2013 2:18:00 PM

Teen died of condition so rare medics powerless to save her

 

 7 3 11

By Donna Deeney 
Saturday, 2 February 2013

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A teenager died from such a rare condition it was impossible for medical staff treating her to have diagnosed it, an expert witness has told her inquest.

Kerry-Lee McCloskey (17), from Ederowen Park in Londonderry, was the youngest girl in a family of 14 children and had her whole life planned out — including her forthcoming 18th birthday.

She was admitted to Altnagelvin Hospital with suspected pneumonia in early May, 2011.

Kerry-Lee remained in hospital for a week, but early on May 10 her condition deteriorated so rapidly doctors were unable to save her.

An initial post-mortem examination found the cause of death was pneumonia.

But Deputy State Pathologist Dr Alistair Bentley was uneasy about his findings because it is unusual that a young, otherwise healthy, girl would die after developing the condition.

A report from Dr David Edgar, a consultant with the Regional Immunology Service for Northern Ireland, was requested and agreed by Coroner John Leckey.

This was presented to the inquest into Kerry-Lee's death at Coleraine Court yesterday.

Dr Edgar found that Kerry-Lee had Wegener's Granulomatosis, a rare condition found normally in middle-aged or older people.

It affects the immune system, but its cause is largely unknown.

Mr Leckey suggested informal meetings between the family, Dr Edgar and legal representatives may be helpful. After these took place the inquest began.

The Coroner told the court that the cause of Kerry-Lee’s death had now been agreed by Dr Bentley and Dr Edgar as pneumonia in association with Wegener's Granulomatosis.

It’s so rare that most medical people would never have seen it. He noted that in Dr Edgar's opinion it would have been impossible for the staff of the hospital to have diagnosed her.

Offering his sympathy, Mr Leckey added that he fully understood how devastated Kerry-Lee's family was that she had died at such a young age so suddenly and he hoped that this new information would help them understand.

Outside the court, Kerry-Lee's mother Eileen said it did help her to know that her daughter's death could not have been prevented.

She said: “Kerry-Lee was my youngest girl and 12th in the family of 14.

“She was spoiled because she was the youngest daughter and ruled the roost. She knew what she wanted out of life, she even had her 18th birthday organised, which should have taken place on June 29 — all we had to do was turn up.

“These have been two rough years. I miss her every day.”



Read more: http://www.belfasttelegraph.co.uk/news/local-national/northern-ireland/teen-died-of-condition-so-rare-medics-powerless-to-save-her-16269004.html#ixzz2K2AhanTa
The Trust Hits Out At The Northern Ireland Health Minister
17/1/2013 6:11:26 PM
A CHARITY dedicated to helping those with rare diseases has hit out at the Health Minister and MLAs for failing Northern Ireland in the provision of services to those who have rare diseases.

Members of the charity point out that only one of our elected representatives -ndash; East Belfast MP Naomi Long -ndash; made a representation to the consultation process.

Terry Hoey, President of the Cavan Hoey Trust, whose grandson suffers from x-linked lymphoproliferative syndrome (XPL) and Epstein-ndash;Barr virus (EBV), said: "There has been a lot of work from EU member states on a rare disease consultation [The Krakow 2010 European Conference on Rare Disease].

"I've been trying to find out why our MLAs didn't do a consultation themselves.

"Every country in the EU took part in this, including the UK."

He said that the Northern Ireland NHS was devolved to the Northern Ireland Assembly, so it's well within the Health Minister's remit to take action on the issue -ndash; or at least to have taken part in the EU consultation process.

"The NHS took part and the British government did too, but when it came to Northern Ireland -ndash; Northern Ireland didn't take part in it," he said.

"Our Assembly left it to other UK groups to do it. On reading the responses to the consultation it looks as if Northern Ireland hasn't to look after anything to do with rare diseases.

"And we're talking about major diseases here, some ultra-rare diseases."

A DHSSPS spokesperson said: "The Department of Health in London has taken the lead for the UK in responding to this recommendation from the Council with input and agreement from the three devolved administrations' health departments including the Department of Health, Social Services and Public Safety in Northern Ireland.

"Northern Ireland has therefore been fully engaged in this work. A UK-wide public consultation on the rare diseases plan concluded in May 2012 and the consultation responses were published by the Department of Health (London) on November 16, 2012. Work has now commenced to produce the final UK Plan by mid-2013 in line with the European Council Recommendation. The Department of Health in London represented the UK's interests at the 5th European Conference on Rare Diseases.

Terry said: "The UK NHS has 36 units to deal with rare diseases. In the consultation document it says that because the Republic of Ireland is another member state, we in Northern Ireland could link up with them -ndash; they don't have a unit dedicated to rare diseases either."

"I can't believe every other country in the EU had representatives but we didn't -ndash; the consultation has been going on for years. And we've got MLAs who are MEPs who should have been looking after us in the EU. There are four lines relating to Northern Ireland in the entire consultation document," said Terry.

Chair of the Cavan Hoey Trust, Godfrey Brockgadd, said that attempts to use facilities in the Republic would be difficult for political reasons but that "there shouldn't be a border when it comes to a child's life being on the line".

Terry added: "This is a very important situation in Northern Ireland. MLAs have shown that they have their heads buried in the sand on this issue and the issue needs to be highlighted or our lives won't be worth anything."

His wife, Maureen said: "I'm glad that Cavan lived in England -ndash; even there his diagnosis took longer, but we're lucky he lives where he does. The resources we have at the minute are not enough and it could take years for Northern Ireland to catch up with Great Britain."

A DHSSPS spokesperson said:"Given the unique nature of each of the diseases concerned and the very limited numbers of sufferers, it is not envisaged that future developments will give rise to any significant change in the approach to treating rare diseases.

"The way forward is likely to be characterised by a greater degree of co-operation in terms of diagnosis, treatment, codification, research, development of specialised drugs and centres of expertise between those involved in treating sufferers in Northern Ireland and their counterparts in the rest of the EU and beyond."



Read more: http://www.belfasttelegraph.co.uk/community-telegraph/east-belfast/charity-for-rare-diseases-blasts-ulster-leaders-over-eu-consultation-failure-16261904.html##ixzz2IG1PbRNp
Consultation on the United Kingdom Plan For Rare Disease
17/11/2012 2:58:51 PM
The Cavan Tommy Hoey Trust is shocked by the lack of responses to the United Kingdom Rare Disease Plan Northern Ireland Parties had the chance to give their views on how they see Rare Disease in Northern Ireland they failed the people in No
rthern Ireland to make a case for younger children of Northern Ireland who have rare diseases and rare cancers, they failed to make a strong case for Northern Ireland.
The Party who has shown true grit for the Children Of Northern Ireland was the Belfast Alliance Party they did not fail to take up the offer to make a case for our children.
The Cavan Tommy Trust view is well known that we need a center of excellence in Northern Ireland like the rest of the United Kingdom and of European standard, this is what our MLA's are sitting in Stormont to do make decisions for the people of Northern Ireland and to work to get its citizens the best Health Care like the rest of Europe.
Northern Irland has and is falling short in health care of rare diseases and this is transferring the burden of costs to the families of children who have a rare disease to take their children to other countries for treatment and Diagnosis.
The Cavan Tommy Hoey Trust will fight for the Children of Northern Ireland until they are getting the same treatment as the rest of Europe and the United Kingdom.
The Trust would also thank the other Northern Ireland Groups who took time to reply to the Consultation Northern Ireland Parties need to wake up to what our people need in Health Jobs and Investment in our young people.
https://www.wp.dh.gov.uk/publications/files/2012/11/Consultation-on-the-United-Kingdom-Plan-for-Rare
Rare Disease Day 2013
22/9/2012 1:22:52 PM
The Cavan Tommy Hoey Trust will be holding Ultra  Rare Disease Day on the 28th Feburary 2013 this year we hope to bring you a bigger event and we hope to get a venue in South Belfast this year to bringUltra Rare Disease Day To the South of the City we hope all who attended last year we will meet on the 28th at our new venue

Ultra Rare Disease Day Northern Ireland 28th Feburary 2012.
ECRD 2012 Brussels 23-25 May: Still time to register! ShareThis conference speakersWith less than 2 months to go, the organisers of the European Conference on Rare Diseases and Orphan Products are undertaking final preparations to ensure that ECRD 2
24/5/2012 9:40:28 PM

ECRD 2012 Brussels 23-25 May: Still time to register!

conference speakersWith less than 2 months to go, the organisers of the European Conference on Rare Diseases and Orphan Products are undertaking final preparations to ensure that ECRD 2012 Brussels is the most important rare policy forum of the year. The location selected is no coincidence. What better place to promote rare diseases as one of the highest priorities in EU public health and research than Brussels? At the heart of EU policy and decision-making!

The three-day conference will be held at the Management Centre Europe (MCE) Conference Centre in Brussels, Belgium from 23 - 25 May 2012. Interpretation will be provided in English, French, German, Spanish, Dutch and Russian for the plenary and other selected sessions. This is a unique opportunity (and tremendously expensive): take advantage of it!

conference participantsECRD 2012 is conceived as a European and international rare disease agora with a great deal of opportunity for networking, learning from each other, mixing all stakeholders, dedicated poster sessions and oral presentations of posters, tutorials for industry and academia, capacity building workshops for patient advocates and academic satellite meetings.

More than 130 posters, presented by theme, selected from more than 200 poster submissions, will be displayed in the main hall. In addition, for the first time at the ECRD, a series of 20 posters have been selected for oral presentations.

Combining public health, research and orphan products

The scope of the conference covers research, public health of rare diseases, all facets of orphan drugs and patient empowerment. “ECRD has a richer format, broader scope and brings new partnerships,” comments EURORDIS Chief Executive Officer, Yann Le Cam. “This year’s conference will bring together Rare Diseases and Orphan Product policies covering therapy development, and regulatory aspects, as well as issues and innovative solutions to improve access to Orphan Drugs.”

This revised format is brought to you thanks to a new partnership between EURORDIS and NORD with the Drug Information Association (DIA) with the objective of synchronizing efforts on both sides of the Atlantic in order to collect, educate, advocate and share experiences. The European Conference takes place in May and the US Conference takes place in October, every year.

To develop a robust programme, EURORDIS is partnering with the EU Committee of Experts on Rare Diseases (EUCERD), the European Medicines Agency (EMA) and particularly the EMA Committee on Orphan Medicinal Products (COMP), ORPHANET, the European Society of Human Genetics (ESHG), industry represented by EBE/EFPIA-EuropaBio, and the US National Organisation for Rare Diseases (NORD).

ECRD 2012 Brussels is not only a conference

The following important satellite meetings are organised at the same venue the day before, 23 May:

  • Tutorials on Orphan Drug Development, Orphan Drug Designation and Marketing Authorisation, Registries and Health Technology Assessment for Rare Diseases. This is a new feature of ECRD thanks to DIA. Tutorials are training sessions intended for professionals working in industry or in academic research teams, that are also open to patient representatives.
  • An Investors’ forum bringing together private investors and pharmaceutical and biotech companies, under the auspices of the EURORDIS Round Table of Companies (ERTC) and NORD Corporate Council. This is a new feature of ECRD to promote networking and investment in Europe for the development of rare disease therapies.
  • The EURORDIS Membership Meeting with seven capacity building workshops and six forums to promote exchange of experience between patient advocates. The workshops will focus on building blocks for national plans. The forums will enable quick learning from each other in advocacy, communication and fund raising (Read article from March 2012 EURORDIS Newsletter).

 

The preliminary programme, registration and full conference details are available in English, French, Spanish, German, Dutch and Russian at www.rare-diseases.eu.

Don’t miss the most important date in the rare disease calendar!

NORD Calls Bill Passed By Senate Today Most Important Since Orphan Drug Act Praises Senate for Addressing Needs of Rare Disease Patients
24/5/2012 9:32:07 PM

NORD Calls Bill Passed By Senate Today Most Important Since Orphan Drug Act

Praises Senate for Addressing Needs of Rare Disease Patients

May 22, 2012, WASHINGTON, DC--- The National Organization for Rare Disorders (NORD) applauds legislation passed today by the U.S. Senate -- S 3187, the Food and Drug Administration Safety & Innovation Act of 2012 (FDASIA) -- and says it contains the most comprehensive improvements to public policy for rare disease therapies since the landmark Orphan Drug Act of 1983.

“NORD has been working very hard over the past two years to ensure that the interests of the rare disease patient community are well represented in this important legislation,” said NORD President and CEO Peter L. Saltonstall.  “We are thrilled that our nation’s leaders in Congress are working together and making substantive policy improvements to bring new therapies to patients who desperately need them.

“When this process began over two years ago,” he added, “our focus was on obtaining a commitment by the FDA to further incorporate the exceptional nature of rare diseases in the review of promising new therapies and medical devices.  What we’ve been able to achieve since then, with our members and advocacy partners in the rare disease community, is nothing short of astonishing.  Our sincerest thanks go to all who have helped to make this day possible.”

The bill contains numerous provisions that will enhance the regulatory process at FDA, incentivize further investment by innovators into rare disease therapies, and expand the scientific armamentarium needed to bring the most cutting-edge therapies to patients as quickly as possible.

Specific commitments by the FDA include:

  • Expanding the Rare Disease Program at the Center for Drugs and extension of the program to the Center for Biologics
  • A new initiative to further qualify and categorize biomarkers for use in clinical trial design, including under Accelerated Approval and similar mechanisms
  • A new initiative to evaluate patient tolerance to risk of proposed therapies and to incorporate more patient input in the review process

Legislative provisions in the bill include:

  • Codification and modernization of the Accelerated Approval process
  • Improvements to policies governing conflicts of interest that will allow expert participation on FDA Advisory Committees
  • Creation of a new category of "breakthrough" therapies that will encourage early public and private collaboration to aid in clinical trial design and review
  • Expanded access to experts for rare diseases beyond the review process
  • Expansion of devices intended for use in very small patient populations, including the possibility of profit for such devices when used in adult populations

The US House of Representatives is working on companion legislation (HR 5651 – the Food & Drug Administration Reform Act of 2012) that has already been unanimously approved by the Committee on Energy & Commerce in a similar bipartisan fashion.  Adoption of that measure is expected when the House resumes its session at the beginning of June.

Both the House and Senate bills are the culmination of a process conducted every five years to reauthorize the Prescription Drug User Fee Act (PDUFA) and related legislation that provides critical funding to allow FDA to review potential new therapies in a timely manner.  As the voice of rare disease patients and their families in the U.S. since 1983, NORD has served as the primary representative of the rare disease patient community over the past two years as needs were prioritized and the legislation now being voted upon by the House and Senate was drafted.

Rare Disease Consultation
19/5/2012 9:08:47 PM
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Consultation on the United Kingdom Plan for Rare Diseases


 


 


 


 


 


 


 


 


 

Response Of The Cavan Tommy Hoey Trust (Ireland)

Building A Rare Disease Foundation For

Northern Ireland

05 May 2012


 


 


 


 


 


 


 

Terence Hoey and Maureen Hoey

The Cavan Tommy Hoey Trust ( Ireland)

86 Palmerston Road

Belfast

Northern Ireland

BT41QD


 


 


 


 


 


 


 


 


 

1 Foreword


 


 

The Cavan Tommy Hoey Trust Has been involved with rare disease for the past four years it was set up by the Grandparents of Cavan Tommy Hoey at the time Cavan was a five year old little boy who went to school and played with other children he was just like any other child he had just started school and his parents like all other parents love when he come home from school and he told them what he was doing that day


 

Cavan one day come home complaining he was feeling unwell as all mothers do they took him to the doctors to find out just what was going on with him Cavan lives in Cornwall so his grandparents were getting updates every day on how Cavan was doing after a few days he was feeling very sick and the doctor was called he was sent to the Hospital for tests some weeks past and Cavan was becoming weaker and not eating


 

His parents were told Cavan had Glandular Fever and was sent home after a few days Cavan was feeling worse he was again taken to hospital and once more he was kept in for more tests his grandparents and his parents were becoming very worried as Cavan was losing weight and getting worse his grandparents phoned the hospital to tell of their concerns it was after that call when the hospital sent Cavan’s bloods to other Centres.


 

The tests were now coming back with reports of diseases that Cavan had but they could not be sure which disease it was he had until finally he was diagnosed with EBVHLH, Hemophagocytic Lymphohistiocytosis and Epstein-Barr Virus he was sent to Bristols Children's Hospital where he was given forty eight hours to live in that time Bristol carried out more tests and found that Cavan had XLP X-linked Lymphoproliferative Syndrome.


 


 


 

Cavan’s Grandparents rushed to Cavan's bedside only to see their little

grandson in away that totally shocked them to the core Cavan was so ill with something that they had never heard of in their lives even the name Rare Diseases was also hard to take in but when they were told that Cavan had XLP and only one hundred children in the world had it it was like a huge explosion had gone off and from that point their lives changed in a way that another person would not imagine it took over every ones family both in England and Northern Ireland


 

Cavan spent a year in Hospital and in that year his parents lives were on hold their home was in Bodmin in Cornwall and Cavan was in a hospital in Bristol his parents had to live in C-lick House for a year while their home was locked up his sister had to come out of school and taught at the Hospital their lives and the lives his grandparents had changed for ever on their return to Northern Ireland Cavan’s grandparents set up the Trust in Northern Ireland it was the very first Trust of its kind in Northern Ireland it was a Rare Disease Trust.


 

Cavan's grandparents were so concerned about Rare Disease they tried to meet the Health Minister they started to enquire if Northern Ireland Health Services had heard of Rare Disease they also contacted Gps to see if they had heard of Rare Disease the results were frightening Rare Disease was on no ones radar at all they were so shocked at what they found they started to raise awareness in Northern Ireland they Held Northern Ireland’s first ever Rare Disease Day they sent letters to every party in the Northern Ireland Assembly and to the heads of Departments of Northern Ireland's Health Service.


 

The Trust sent out letters to every single person to try to get them engaged in some sort of debate on the issues around rare disease they tried to get various locations to hold the event Thanks to Belfast Lord Mayor Naomi Long of the Belfast Alliance Party that their first rare disease day took place the response from the letters sent out were very disappointing to say the least rare diseases just seemed to be not an issue at all


 

The Trust feels that this is such an important issue for parents and families that they had to respond to this consultation on Rare Disease


 


 


 


 


 

Diagnosis of a rare disease is difficult and delays may occur. Sometimes it is obvious that there is a problem, but expertise is needed to establish the precise diagnosis. Clear referral pathways to expert centres can help in this situation. But sometimes a rare disease is not even suspected. In this situation, computer prompts for GPs, similar to those already used to alert GPs to issues in prescribing, are a promising avenue to explore.


 


 


 

Response


 

Rare Disease In Northern Ireland seems to be looked as if it only happens to someone else the need for information regarding rare diseases vital not only to raise public awareness but to inform the Northern Ireland Health Service is of up most importance if its not an issue or awareness is not raised Gps could miss cases of rare disease the need for an alert system in Northern Ireland would be vital to help Gps to diagnosis rare diseases


 


 

 


 

Screening at birth for some rare diseases is another way to avoid delay in diagnosis. There are already national screening programmes for several rare diseases. The United Kingdom National Screening Committee advises Ministers and the NHS in the four United Kingdom countries on all aspects of screening

Response


 

Screening we feel is vital in the fight against rare disease in Northern Ireland to help our doctors get a better chance to keep records and develop programmes on alerting families that there is a possibility of the child having a rare disease and for the family to be prepared if National Screening is taking place in the United Kingdom and they are already having success then its vital for Northern Ireland to follow that lead


 


 


 

 

 

 

 

 

Training of medical and other staff in the NHS is among the best in the world, but we must not be complacent. We need to ensure, through both basic training and continuing professional development, that all doctors are alert to the possibility of a rare disease when they see a patient.

Response

 

 

Training is vital in any job and in the health service of Northern Ireland it is also vital maybe even more vital for them to be given training to be able to spot the signs of rare disease it is also vital for the Northern Ireland Health Service to develop training and development is on a par with the rest of the United Kingdom and the need to alert all doctors and Gps is vital in Northern Ireland's fight against rare disease


 

 

Coding and classification issues are important if we are to understand fully the burden of rare disease. The current, 10th, version of the International Classification of Disease (ICD 10) does not serve well for rare disease. A new revision is expected in 2015 which should resolve This Problem


 

Response

 

Coding and Classification issues are vital to Northern Ireland to understand the full burden that rare disease could put on the Northern Ireland Health Service it is vital that the Northern Ireland Health Service and the Northern Ireland Health Minster understands that rare disease coding and networks are vital to a Northern Ireland Response and planning.


 

The United Kingdom is at the cutting edge of international research in rare disease. Most of the biomedical research centres funded by the National Institute for Health Research (NIHR) are conducting research on rare disease. The UK participates in rare disease research at European level and will be actively involved in the new International Rare Disease Research Consortium (IRDiRC).


 

Response


 

Northern Ireland has for many years been under funded it has lots of provincial hospitals that do good work for local communities they are not centres of excellence like the Mental Health services they are under funded after some thirty years of civil unrest the health services have taken a back seat and rare disease was not on the radar like the rest of the United kingdom and this would have to be recognized in any response that Northern Ireland sets out

 

 

 

 


 


 


 


 


 


 


 

 

 


 


 


 

UK Plan on Rare Diseases

 

Closing date for responses: Friday 25th May 2012. Please send your replies to: rarediseasesconsultationresponses@dh.gsi.gov.uk or alternatively send by post to: Sarah Bramley-Harker Department of Health Screening & Specialised Services Team Room 5W35, Quarry House Quarry Hill Leeds, LS2 7UE.Please fill in and/or tick the appropriate response.

Name Contact address Organisation representing (if appropriate)Postcode Contact telephone


 

Before submitting your response please make sure that it has been saved in a name [e.g. A N Other] that will make it easier for us to track. many thanks.


 


 


 

 

 

 

 

 

Freedom of Information

This consultation document has been produced by the four UK Health Departments. The information you provide in response to this consultation will be managed in accordance with the Information Charter, or equivalent, of each UK Health Department.


 


 


 


 


 


 


 


 


 


 


 


 

 

 

12 Consultation response form

 

 

 

 

 

 

Consultation on the United Kingdom Plan for Rare Diseases 48

Information provided in response to this consultation, including personal information, may be published or disclosed in accordance with the access to information regimes. The relevant legislation in this context is the Freedom of Information Act 2000 (FOIA) and the Data Protection Act 1998 (DPA) and equivalent legislation in Scotland, Wales and Northern Ireland. If you want the information that you provide to be treated as confidential, please be aware that, under the FOIA, there is a statutory Code of Practice with which public authorities must comply and which deals amongst other things, with obligations of confidence. In view of this, it would be helpful if you could explain to us why you regard the information you have provid

ed as confidential. If we receive a request for disclosure of the information we will take full account of your explanation, but we cannot give an assurance that confidentiality can be maintained in all circumstances. An automatic confidentiality disclaimer generated by your IT system will not, of itself, be regarded as binding. Your personal data will be processed in accordance with the DPA and in most circumstances this will mean that your personal data will not be disclosed to third parties. However, the information you send may need to be passed on to colleagues within the other UK Health Departments and/or published in a summary of responses to this consultation.

 

 

 

 

I do wish my response to be passed to other UK Health Departments

 

I do wish my response to be published in a summary of responses

 

 

Are you responding: – as a member of the public as a health or social care professional

 

 

(on behalf of an organisation) The consultation process 49

 

We are Responding as an organisation that was set up by Terry and Maureen Hoey for their Grandson Cavan The Cavan Tommy Hoey Trust was the first rare disease movement in Northern Ireland after four years of very hard work and holding Rare Disease Days over the past four years bringing the message that rare diseases are not so rare we have been totally shocked by the response we have got from Northern Ireland MLAs and the Northern Ireland Assembly

 

 

 

we are fighting for the Children of Northern Ireland we feel that rare disease has been overlooked and forgotten about it is only in the past year that the Northern Ireland Assembly has moved on Rare Disease and on reading the transcript of the 2010 rare disease conference Northern Ireland did not take part or raise any points.

 

Northern Ireland has its Health Service Devolved which means we are funding our Health Service and if we want to use hospitals in the United Kingdom our Health Service have to fund it this system is very patchy we know of cases where Children With illness find it hard to get a proper diagnosis or they have got a diagnosis and need to be sent by referral to the United Kingdom for treatment and this is not happening due to costs

 

We feel if the process is not working now how will it work when we try and set up a plan for Rare Disease Northern Ireland seems to have missed the boat on this issue that is why we felt we had to respond to the consultation to try and raise this issue on reading the UK Rare Disease Consultation it is based on England only as Scotland has NHS Scotland who are doing their own Rare Disease Program and NHS Wales is also doing its own program leaving Northern Ireland to do its own rare disease program it states in the consultation that Northern Ireland is unique as it has a land border with Southern Ireland this will be a bridge that will have to be crossed as Northern Ireland is a unique place also where a wall divides most of West Belfast called the peace wall if people cannot cross that how will they travel to hospitals in the South of Ireland for treatment that could end up the patient having to have a long stay in hospital

 

 

 

We know treatment can take up to a year to stay in hospital and that families are put under so much pressure that it causes a breakdown in family as peoples lives have been ripped apart and put into a life of uncertainty The Cavan Tommy Hoey Trust is the only rare disease family organisation in Northern Ireland actively raising awareness of rare disease

 

 

 

 

 

 

 

I do wish my response to be passed to othe Northern Ireland Health Departments

 

I do wish my response to be published in a summary of responses

 

Please indicate the country the consultation and your comments relate:

 

UK-wide England Scotland and/or: (Northern Ireland ) Wales

 

 

 

 

 

 

1 What is your sex?Consultation on the United Kingdom Plan for Rare Diseases 50

Tick one box only. ( Male ) Female Prefer not to say

 

What is your Age My Age Is 61 Age Prefer not to say

 

Tick one box only. White ( British) Irish Prefer not to say

 

 

 

 

2 Please indicate the country the consultation and your comments relate:I do not wish my response to be passed to other UK Health Departments I do not wish my response to be published in a summary of responses

 

Scotland and/or:(Northern Ireland ) Wales UK-wide England

 

3 Are your day to day activities limited because of any health problem or disability which has lasted, or is expected to last at least 12 months? (YES)

 

 

 

4 Do you look after, or give any help or support to family members, friends, neighbours or others because of either long term physical or mental ill-health/disability or problems related to old age? (No)

 

 

 

 

 

 

 

 

 

 

 

5 What is your ethnic group? The consultation process 51

 

Tick one box only. A (White) (British ) Irish

 

Any other White background, write below

 

B Mixed White and Black Caribbean-white and Black African White and Asian

 

Any other Mixed background, write below

 

 

 

 

Any other White background, write below

 

 

 

 

B Mixed White and Black Caribbean-white and Black African White and Asian

Any other Mixed background, write below

 

 

C Asian, or Asian British Indian Pakistani Bangladeshi

Any other Asian background, write below

 

 

D Black, or Black British Caribbean African

Any other Black background, write below

 

E Chinese, or other ethnic group Chinese Any other, write below

 

F Prefer not to say

 

 

 

6 What is your religion or belief? Tick one box only.

Christian includes Church of Wales, Catholic, (Protestant ) and all other Christian

None Christian Buddhist Hindu Jewish Muslim Sikh Prefer not to say Other, write below

 

 

 

 

 

 

7 Which of the following best describes your sexual orientation? Consultation on the United Kingdom Plan for Rare Diseases 52

 

Tick one box only.

Only answer this question if you are aged 16 years or over.

 

Heterosexual (Straight ) Lesbian/Gay Woman Gay Man Bisexual

 

l Prefer not to say

 

Other, write below8 I

 

 

 

 

 

 

 

f you are responding on behalf of an organisation, please indicate which type of organisation you represent:

 

 

 

 

Non-social Care Private Health/ IndependentSector Third Sector Regulatory

 

Body Professional Body Education Trade Union Local Authority

 

Trade Body Other (Please give details)

 

as a health or social care professional

 

 

 

The Cavan Tommy Hoey Trust Is an None Profit awareness group and patient and family group for Rare Disease in Northern Ireland

 

 

9 If you are responding on behalf of an organisation,The consultation process 49

 

please indicate which type of organisation you represent:

 

 

 

The Cavan Tommy Hoey Trust (Ireland) Patient and Family Group for Rare Disease XLP and EBVHLH

 

 

 

 

 

Area Of Work?

 

NHS Social Care Private Health Third Sector Regulatory Body

 

 

Professional Body Education Trade Union Local Authority

 

Trade Body/Other

 

(Please give details) To Give parents Support and to support children and to raise awareness of rare diseases effecting children and adults

 

 

 

We are totally involved with Parents Support,and the Support of Children we raise awareness by Holding Rare Disease Day Road Shows We try and involve other Families who are affected by a Rare Disease to be with us on the stand we enable them to tell their story and to answer questions at the end of the show The Cavan Tommy Hoey Trust Fund All thr Road Shows and we all work with the Trust Totally voluntary

 

 

 

Please give details)Independent Contractor to NHS Manufacturer Supplier Other (where relevant)

 

 

 

10 In which of the following areas do you live:

 

(please tick one box only) North East North West West Midlands

 

East Midlands Humberside/Yorkshire London South East

East of England South West Wales Scotland (Northern Ireland)

 

 

 

Consultation Questions

 

 

 

1 CONSULTATION QUESTION: Do you agree that commissioners of services

should explore the potential of expert clinical systems to reduce diagnostic delay,

particularly in neurology and genetics?

    Comments

 

Delay in diagnostics is a major problem with parents that have children with a rare

disease the need for expert clinical systems is vital to reduce any delays that are

caused by systems not in place it effects the patient and the parents or family by

causing stress and worry at a time when they are already under great emotional stress

it effects lives in many ways

 

2 CONSULTATION QUESTION: Can you suggest ways of rare disease

featuring more prominently in speciality training for doctors?

    Comments

 

Rare disease Northern Ireland has only become an issue we have found that very few

Consultants/ Gps are aware of rare disease some patients presents with an illness that

looks like glandular fever when in fact it is HLH treatment of these diseases depends on

diagnosis being made as fast as possible as we know rare diseases mimic other illness

making doctors need to be aware that using a computer link to warn them and to help

them in their diagnosis is vital for them,

 

They also need to link with other hospitals of excellence in their area to enable them to

limit any effects of any disease.Doctors in Northern Ireland need to use the NHS

Centres of Excellence in the United Kingdom for diagnostic tests of bloods and link

with other consultants and networks to aid them in their fight against rare disease

 

 

 

3CONSULTATION QUESTION Do you agree that the UK National Screening

Committee should take into account the benefit of screening in reducing the

diagnostic odyssey’ and in allowing informed choice for subsequent family

Rare disease is something that should routinely be screened Nationally

    to enable parents to have a choice and it would also give a major boost in the diagnostic

    Process and help doctors plot the diseases in different people it would also help

    Gps if they were connected to the same network to enable the doctor to be involved

    Northern Ireland would need to be in a National Screening program from its conception

 

4 CONSULTATION QUESTION The consultation process 53 4.How can

the NHS best ensure research in rare diseases carried out by the NIHR

biomedical research centres and units is rapidly transferred into practice for

the benefit of UK patients and their families and carers

Rare disease needs to have centres of excellence like NIHR biomedical centres the need for

a rapid service is vital for the families who are going through the pain of knowing that

their child or family member may have a rare disease the impact of being told that a family

member has a rare disease and it may be genetic is devastating for members of the

family with guilt issues and blame the need for counselling is vital at this point.

This is when families have to deal with long stays in hospital that can take up to a year

for doctors to find the proper profile of drugs. We have seen cases in Northern Ireland where

diagnosis is a big problem as parents could not get benefits until the diagnosis was given and

they then had the problem if the diagnosis was not recognised by the benefits office.

These families could not get help so the issue of early diagnosis is vital for both the patients

and family the need for treatment or a form of treatment to try and stop any further damage to

the patient is vital to give the patient a chance of some recovery.

 

Northern Ireland has three great hospitals that need to network between each other to enable

to link to a National Data Base this process will need funding and Northern Ireland hospitals

are all ready going through major cut backs we fear what is needed to put in place a data

may not get the funding it would require

     

    5 CONSULTATION QUESTION: Do you agree that commissioners

    of care for people with rare diseases should assess options for

    improved care for people with rare diseases should assess

    options for improvedand rest bite care

    Comments

    Commissioners are vital for the patients and the families who care around the clock

    children's care is a major issue for the family with a rare disease not like any other illnes care

    surrounding rare disease is different it is left up to the family both in hospital and in

    home parents have to be both doctors nurses and a carer

     

    This is the time when family life is turned upside down without any help with care

    the family at this time are in the danger of one parent walking away from the situation they find them selves in the realisation that lives have changed for ever and realisation of the impact

    that rare disease will have on their lives ,care is vital to help with patient care

     

6 CONSULTATION QUESTION: Do you agree that this list of criteria for expert centres should be the basis for future shaping of services:• co-ordinated care;• adequate case-load for expertise;• not dependent on a single clinician;• arrangements for the transition from children’s to adults’ services;• engaged with people with renditions;• research active?

    Comments

     

    Rare disease is not like any other illness it has to have centres of excellence and expertise and linked to a central data base to process the numbers of patients there are and where they are and what type of diagnostic results given the prognosis and life expectancy of the patient drugs used in treatment of any disease.

     

    On this basis it could be worked out what type of care is right for the patient and what type of care works and the case load involved for each patient to enable a co-ordinated care program this would have to be from the child leaves hospital through to adulthood

     

    Centres of expertise could be placed in hospitals already in place the need for a central NIHR biomedical centre is needed in Northern Ireland that could cover the South of Ireland also we feel that if hospitals were used as centres of expertises Northern Ireland could link with its Southern Hospitals to make sure that adequate case loads are reached for expertise

    and not dependent on a single clinician as each hospital that has been put in place as a centre of expertise could train the doctors and the Gps in the diagnosis process

     

    The need for transition from children to adults services is one of the most popular questions asked by a parent of a patient with a rare disease how will we look after our child when they get older this is a major fear by parents this fear comes with not getting the proper care services in place at the start of the process this is due to one department not telling another due to lack of co-ordinated planning.

     

    In Northern Ireland Rare Disease was not on the radar at all it took a lot of blogging and newspaper reports to get it to where we are today andthat is not very far at all as Northern Ireland devolved its health service it is badly under funded it has many small district hospitals and three major hospitals cutbacks are hurting our hospitals a lot,Rare disease was not an issue Northern Ireland has a lot of catching up to do to be of a standard of the NHS even though we have a land border with Southern Ireland will not mean that people will want to be treated in Southern Hospital that is a bridge that has to be crossed

     

The NHS is the best service there is it has 39 centres of excellence for rare disease Northern Ireland has none and the NHS is one of the best research centres for rare diseases that Northern Ireland has to tap into for present conditions that patients are going through would have to change to give the people of Northern Ireland the prospect of research and the use of services in the United kingdom people of Northern Ireland the prospect of research and the use of services in the United kingdom

    7 CONSULTATION QUESTION Consultation on the United Kingdom Plan for Rare

    Diseases 54

    Do you agree that each expert centre must know its network of local

    hospitals, and must know the pathway to the expert centre which

    will offer help, support, advice and assistance?

    Comments

    It is vital that Hospitals must know its network of hospitals both in Northern Ireland and Southern Ireland and the United Kingdom if Northern Ireland is included in setting up a centre of expertise it must be linked to all hospitals in Northern Ireland and the United Kingdom and Southern Ireland a pathway would be vital to the expert centre to offer help support advice and assistance

 

8 CONSULTATION QUESTION: Do you agree that registers are an

    Important tool in rare disease and could be a core component of theof the

    service specification of an expert centre?

    Comments

     

     

    In all centres of expertise the need to hold up to date registers are very important tool in the fight against rare diseases if we do not keep a register on how many people have a rare disease and their location planning will be very restricted it will also hold back research into rare disease and limit the amount of information that hospitals can access it would also restrict information that is vital in research into areas and locations of certain diseases and make that type of research impossible An expert centre should be a centre used to collate information on rare diseases it should be NIHR biomedical unit that is able to research diseases and treatments and to decision make on treatments

     

 

9 CONSULTATION QUESTION: In England, how best might this be

facilitated with the introduction of Local Health Watch and Health

Watch (England)?

Comments

 

    This is a good example of Northern Ireland Health Service and how far we are behind the rest of the United Kingdom the rest of the United Kingdom can access NHS direct for help with minor problems and give advice over the phone this service is not available in Northern Ireland in regard to a Local Health Watch if it was not linked to the rest of the United Kingdom it would not be of much use as it would need to be linked to make it effective

 

10 CONSULTATION QUESTION: Do you agree that the United

Kingdom should continue to participate in the Orphanet project?

 

Comments

It is very important that the United Kingdom Continue to participate in the Orphanet Project as the United kingdom is one of the best research centres in the world and has one of the best Health Services in the world it is vital to have their input into this if they did not participate it would be a great loss to Orphanet we feel that Northern Ireland must take part in Orphanet to use as a learning tool for our medical services

 

 

     

     

     

    11 CONSULTATION QUESTION: What sources of patient

    information and support are available which are not listed in this plan?

    Comments

     

    Northern Ireland needs to acknowledge that rare diseases will set challenges

    that patients and families with rare disease are going to raise for the health service and mental health services,as they will also need psychological support and at this time Northern Ireland is many years behind the United kingdom in mental health care as it results in long waiting times to see consultants and to receive the help that they require Northern Ireland Commissioned the Bamford Report on Mental Health Services in Northern Ireland and for the Northern Ireland Assembly to act on the findings were bleak for the patients,

     

    Patients with rare disease and their families need help and support from mental health services to deal with the aftermath of a diagnosis of rare disease, it needs to be a service that is available to the family long term for both the parents and the siblings of the patient,as their own fears and psychological problems will have to be addressed to enable them to cope with a genetic disease and the fears that surround a diagnosis of a genetic rare disease

     

    They will have to cope if a daughter may have the gene and pass it on to daughters children if it is X-linked they would have to make some decisions that would effect her having children and the prospect of passing the gene onThe family needs a support network of Health Services, Social Services, Mental Health services,and a 24hour Genetic Help line the need of these services are vital to help the family cope with rare disease,it must be understood by Governments that a diagnostic result of rare disease effects the whole family and not just the patient a support network is vital for families to help them deal with problems they will encounter on a daily basis

     

    Rare disease must be looked at in a different way by Government and Health Services. They have to realise a family that has been given the news that a loved one has got a Genetic Disease that has been passed on from another family member is devastating to the parents as well as the patient and the long time effects without support can cause the marriage to break down because of guilt or blame,

     

    Getting the patient home from hospital raises other concerns the home has to be turned into a 24 hour medical centre and the parents are left having to find the funds to change their home, The patient, would need 24 hour care that is left in the hands of the parents and without support. .

     

    Support is vital to young mothers to have a network to enable them to get answers to questions from the medical services is very important to families and to patients the family must have a direct link to health services mothers have to deal with issues around rare disease a service that would have a direct link with rare disease network and that is linked to the national centre of excellence

     

    The Northern Ireland Health Service is underfunded it has lots of rural Hospitals that are expensive to run it has three hospitals that are Centres Of Excellence in their own fields they work very hard in what they do but are under staffed in what they are expected to cope with. Under funding has gone on for many years as there are a lot of hospitals that have to be maintained the Northern Ireland Assembly would need to hold an impact assessment in Northern Ireland on rare disease like the NHS to enable the Northern Ireland Health Service to start the process with actual facts in front of them. Any impact assessment would have to include past patients and the effects that cuts are having on health care and include Mental Health Service and Social Services

     

     

     

     

    Northern Ireland has come through many years of trouble that has caused its own problems when all funds were diverted to pay for security and other services had to take a back seat this has caused its own problems for the Health Services and Mental Health Services and the infrastructure of Northern Ireland has not moved on to deal with the present problems that it now has to deal with and the need for an impact assessment on the services of Northern Ireland is vital for the population and for the development of services that have been under funded for many years

     

     

    12 CONSULTATION QUESTION: Are there any areas of work that the UK Plan on Rare Diseases needs to pay particular attention to in order to advance equality?

    Comments

     

    UK Plan on Rare Disease Has carried out an impact assessment Northern Ireland we feel should hold an impact assessment to enable the Northern Ireland Assembly and The Northern Ireland Health Services to enable them to ensure equality with in the health service, as we know Rare Disease Effects Five or less in 10,000 the need to carry out an impact assessment would be most important

     

     

     

     

    Equality Impact Assessment is vital for Northern Ireland to give a true picture of rare disease diagnosis with in Northern Ireland Hospitals is not good enough to hold any sort of assessment by asking patients with a rare disease to respond to News Paper advertisement by emails we need to know from the point of diagnosis and that in our Hospitals we need to know if there are adults or children that has been diagnosed with rare disease we need to know what support and information they have received since the diagnosis what type of difficulties in access to treatment and access to care they have encountered.

     

    Information on any rare disease patients in Northern Ireland needs to be collected and cover all nationalities within the Northern Ireland Population to ensure that Patients who have a rare disease do not face any obstacles due to the small numbers that are affected due to the lack of knowledge of their disease and difficulties to access treatment and rehabilitation and proper care, Patients can face many obstacles that lead to inequalities in access to care and availability of orphan drugs

     

    Rare Disease patients can also face delays to state benefits if they cannot get an early diagnosis or the state has not got any information on the disease this causes great problems to the family if they have to move home to be near to a hospital where the patient is under going treatment some diagnosis can take up to a year while the family is living away from their home giving support to the patient or themselves being tested for a genetic link to the patients disease,

     

    Many families have to face enormous hardships as a result to a relative being diagnosed with a rare disease the family has to deal with so many issues with in the marriage and put under so much pressure trying to cope with the nightmare they find themselves in the need for equality at this time is vital to the family unit .

     

 

    13 The Northern Ireland Assembly Do you think the Northern Ireland Assembly is commited and will fund changes in the Northern Ireland Health Service to enable them to deal with rare disease

     

    The Northern Ireland Assembly must play its part like other countries with in the European Union and has to play its part in rare disease it must put in place centres of exellence and this could well be done in our local hospitals funding will be needed to meet the standards of the NHS in England who all ready have most of what is needed in place like Mental Health Services Northern Ireland still falls very short of coming up to the standard of the rest of the NHS in other parts of the United Kingdom.

     

    Our GP services in Northern Ireland still has waiting times of up to two weeks to see your GP and in hospitals waiting times to see a consultant has doubled when the NHS in England Scotland and Wales waiting times have been cut to see your GP and waiting times to see consultants has also dropped We have heard of cases where consultants have left our Health Services and have not been replaced.

     

    Northern Ireland like the rest of the United kingdom must be commited to health care But Northern Ireland falls far short of health care that citizens are getting in England Scotland Wales our health service lags far behind them in cutting waiting times to see your GP and they have cut waiting times to see Consultant s they have also cut waiting times when you attend by out patients and Emergency Services so yes we do lag behind the rest of the United Kingdom.

     

    The Health Services in Northern Ireland seems to have lost its way in health care our doctors / nurses can only work with the tools they have but to cut their budgets at a time when we are not matching health care standards as in the rest of England/ Scotland /Wales is a great mistake when Northern Ireland has to call in a firm of accountants to fix Northern Ireland sets the arlam bells ringing every where how can accountants deal with issues with in a health service when our hospitals are al ready under staffed in every department major cuts in funding and waiting times increasing in our hospitals.

     

    Is Northern Ireland ready to deal with Rare Disease thats a hard question to answer the rest of the United Kingdom have 39 centres of Exellence already working on rare disease which means that England /Wales /Scotland have centres of excellence with in reach they also have a first class road service that Northern Ireland has not this makes transporting patients from parts of Northern Ireland take longer road links are not upto the standard of the rest of the United Kingdom and to have a land border with the South of Ireland has not helped our Health Services and to see people having to travel from Northern Ireland to Sourthern Ireland makes it difficult

     

    The NHS has already set up links with NHS Direct that you can ring from anywere in the United Kingdom but not Northern Ireland they are now setting up Health Watch and Health Watch England the NHS Direct web site is easy to use and with lots of information yet when you go to the Northern Ireland Health web site it is nothing to shout about and some of the linkls are not working are we ready for rare disease in Northern Ireland we would say not .

     

    As a marker we should look at other Hospitals inside Europe and try to learn from them the NHS is the best Health Service in the World and its on our door step would it not have been more financially cost effective to bring consultants from the NHS to give our Northhern Ireland Health Service some direction on what is going on with our health service could we not have saved the millions of pounds it will take to pay a firm of accountants to do a job consultants from the NHS could have done

 

 

 

 

 

 

Rare Disease in Northern Ireland was something that was not talked about or even looked at it

is not happening in Northern Ireland so why worry about it it took a little boy called Cavan

Tommy Hoey to change Northern Irelands Mind on Rare Disease even though he comes from

Cornwall in the United Kingdom with his blogs the world has woke up to rare disease

The Cavan Tommy Hoey Trust has worked hard to raise awarness of the nightmare that is

Rare Disease with out much funding or any help from the Northerm Ireland Assembly we have

Worked to help the people of Northern Ireland

 

The need for proper care and a quick diagnosis is vital in any case of rare disease our hospitals

and our nursing staff and doctors are some of the best in the world but Rare Disease is

something different European Leaders have been involved at the Rare Disease Consultation

They have been getting ready for Rare Disease and talking about it for years on how Europe

would deal with rare disease leaders and doctors from all European Countires have been involved

Including Ireland even countries who have only joined Euprope had their say the NHS was also

involved It would have been a great chance for the Northern Ireland Health Service to become

part of this consultation.

Northern Ireland Health Service should have participated in this Consultation like the rest of

our european partners rare disease is so important for many people world wide that it is a major

health problem for us all Northern Ireland has not carried out a survey to find out just what impact

rare disease was having in Northern Ireland we can not understand why the Northern Ireland

Department has not carried out a full impact assessment on rare disease under section 75 if

the Northern Ireland Health Service has been Devolved to the Northern Ireland Assembly

would it not be in the interest of the Department to carry out an impact assesment Like

our partners the United Kingdom.

 

The need to have a full assessment is vital to gauge how many people could have a

rare disease and how many people in the past have been treated for a rare disease and

the type of disease and how it was treated to enable Northern Ireland to have its records up

graded to add to a full european index on rare diseases we call for a full impact assessment

in the Northern Ireland Health Department to ensure that all patients are getting the proper care

and treatments that are available

 

We would like to thank you for this opportunity to take part in the United Kingdom Consultion

on rare disease we hope our input will be of help

 

 

 

Thank you and

Best Regards

 

 

 

    The Cavan Tommy Hoey Trust (Ireland)

    86 Palmerston Road

    Sydenham

    Belfast
    BT4 1QD

     

 

 

 

 

 

 

 

 

 

     

     

 

 

 


NORD Applauds SSA For Expanding Compassionate Allowances List
26/4/2012 9:14:45 PM
.Washington DC—Peter L. Saltonstall, president and CEO of the National Organization for Rare Disorders (NORD), today thanked the Social Security Administration (SSA) for expanding the list of “Compassionate Allowances” to provide fast-track disability decisions to Americans with the most seriously disabling medical conditions.

Saltonstall’s comment was in response to an announcement yesterday by Michael J. Astrue, Commissioner of Social Security, that 52 new Compassionate Allowances conditions would be added to the list. The new conditions primarily involve neurological disorders, cancers and rare diseases.

“The Compassionate Allowances program allows patients with certain very disabling conditions to receive disability decisions within days rather than months or years,” Saltonstall said. “This is very important to the patients and families NORD represents. We appreciate the commitment of Commissioner Astrue and the SSA staff to improving the disability application process.”

In announcing the additions to the list, Commissioner Astrue said that “Social Security will continue to work with the medical community and patient organizations to add more conditions. With our Compassionate Allowances program, we quickly approved disability benefits for nearly 61,000 people with severe disabilities in the past fiscal year, and nearly 173,000 applications since the program began.”

NORD and other patient advocacy organization have provided input to SSA for the Compassionate Allowances program. Commissioner Astrue originally announced the establishment of the program at a NORD conference.

Launched in 2008 with a list of 50 diseases and conditions, the program is aimed at identifying medical diagnoses that clearly meet the statutory standard for disability. When individuals with those diagnoses apply for disability assistance, they receive fast-track review so that they are notified of the final decision within days.

The 52 new Compassionate Allowances conditions, which will become effective in August, bring the total to 165. The list is posted on SSA’s website, with the new conditions in red.

Saltonstall said NORD also commends SSA for improving its online disability application process. Starting April 21, adults who file for benefits online will have the option to electronically sign and submit their medical records authorization forms, so that they may complete their disability application in a single online session rather than printing, signing and mailing some paper forms.

CONTACT: Mary Dunkle, NORD Vice President of Communications (Email)

Rare Disease Day Bangor Co Down
19/4/2012 9:42:56 AM
The Cavan Tommy Hoey Trust Will Be Holding A Rear Disease Day Road Show On The 28th April 2011 @ 12.00 untill 2-00 pm Bangor County Down @
First Presbyterian Church Bangor
Main Street, Bangor, County Down
BT20 4AG
Northern Ireland

Everyone is very welcome this is an open event to raise awearness of Rare Diseases and their effects on Patients and their Familys Anyone Can Be Struck Down at any time with a Rare Disease it only takes the trigger Support us in our fight to insure better drugs and better treatment  for paitents and moast vital early diagnosis,Support us in our fight for better services for familes who need vital support  for genetic councelling and back up from social services and if it is a child that is affected the need for special needs support and childcare support is vital  both for the child and for the family both in care of the childs special needs and in the nurseing care to enable the parents to take breaks in the roll of careing


Rare Disease Day: Building momentum towards international collaboration.
19/4/2012 9:10:57 AM
.As we have celebrate the International Rare Disease Day 2012 we are turning rare diseases into an international movement as well as into an international public health priority.  These are critical, unavoidable long term objective to sustain and boost national and regional dynamics as much as to enable global approaches when they are more relevant and efficient than national ones due to rarity.

One of EURORDIS aims – as stated in its Strategy 2010-2015 – and a main long term objective of the EURORDIS partnership with NORD are to support people living with rare diseases in becoming this international civil society movement speaking with one voice and gaining visibility as much as influence in international institutions.

The International Rare Disease Day, initiated in 2008 and organised by EURORDIS together with all national alliances and all stakeholders friends around the world, is a dynamic vector in achieving this objective. Rare Disease Day is a rapidly growing success reaching out to more countries – over 60 countries in 2012- and spreading the word thanks to local events, social media and viral communication. It is an essential campaign to raise public awareness, to attract attention of policy makers and a concrete common action to bear the sense of sharing common destiny and goals.

The International Conference on Rare Diseases & Orphan Drugs, of which I am one of the co-funding members, organized since 2005, first in Stockholm (2005), Madrid (2006), Brussels (2007), Washington (2008) and Rome (2009) are now moving to Buenos Aires (2010), Tokyo (2012) and soon Shanghai (2013) bringing together leaders from the patient advocacy organizations, public policy, academia and industry is a useful action to leverage the local efforts in gathering the relevant stakeholders and bringing the challenges of rare diseases to the surface. ICORD has also the potential to create a core international community of rare disease leaders sharing the same vision and common objectives.

The International Consortium for Rare Disease Research, initiated in 2010 by the European Union with the United States, Canada, Japan and other active countries and private players, is an essential initiative. The IRDiRC is now fully established since 2012 to promote globally coordinated policy for the development of the knowledge base for rare diseases as much as new diagnostic tools for most rare diseases and the ambitious objective of 200 new additional therapies for rare diseases by 2020.  Following our advocacy, EURORDIS and other main national rare disease organisations are full members of IRDiRC Executive Committee.

The immediate use of OrphaCode, and tomorrow a possible WHO classification of rare diseases in the next ICD 11, is instrumental to shape international health information systems on rare diseases and enable new international collaboration. This OrphaCode is already widely and increasingly used around the world. These efforts are significantly supported by the European Union.

EURORDIS has initiated a Joint Declaration “Rare Diseases: an International Public Health Priority” currently reviewed and to be adopted in the coming year by umbrella rare disease patient organisations from around the world so to speak with one common patient voice to international institutions such as WHO and OECD, and take our future advocacy efforts at a new level.

EURORDIS will facilitate improved communication between these umbrella organisations in order to share information, exchange experience and coordinate limited international actions. Being itself an organisation covering 48 countries and working in seven languages, EURORDIS is better equipped to support these efforts and create the “Rare Disease International” network. This was discussed in January 2012 in Tokyo between EURORDIS for Europe, NORD for USA, CORD in Canada, NZORD in New Zealand, TZORD for Taiwan, Geizer for Argentina and the Japan Patients Association.

In parallel, EURORDIS and NORD will continue and grow their joint efforts to create International on line communities of patients and families, involving patient organizations from around the world when they exist, so to raise their disease awareness internationally, to ease exchange and mutual support across countries and continents, and to promote new patient generated knowledge.

This vision and step wise approach was presented by EURORDIS last month at the International Conference on Rare Diseases and Orphan Drugs (ICORD) in Tokyo, Japan, and welcomed by participants.

By dedicating a limited 1% or 2% of our respective resources to this international cooperation, we can make a huge difference to the hundred millions of patients living with a rare disease around the world while enhancing the effectiveness of our efforts in our respective remits.
NORD Announces New Cushing's Syndrome Patient Assistance Program
19/4/2012 8:53:24 AM



In partnership with Corcept Therapeutics Inc., the National Organization for Rare Disorders (NORD) has established a Cushing's Syndrome Patient Assistance Program for patients with endogenous Cushing's syndrome who need financial assistance with certain costs related to their medical diagnosis and/or care.

Endogenous Cushing's syndrome is a serious and debilitating rare disorder caused by over-production of cortisol, a steroid hormone that increases blood sugar levels, by the adrenal glands.  The syndrome most commonly affects adults between the ages of 25 and 40.

"It is especially appropriate that we are making this announcement just before Cushing's Awareness Day, which will be observed on Sunday," noted NORD President and CEO Peter L. Saltonstall.  "The Cushing's Support and Research Foundation (CSRF), a non-profit organization for patients and families affected by Cushing's syndrome, is a member of NORD.  We are pleasd to join CSRF and the entire Cushing's community in promoting awareness of Cushing's syndrome at this time."

The new program, which launches on April 11, will provide assistance with deductible and/or co-pay expenses to ensure patient access to Korlym, a drug developed by Corcept and approved by the Food and Drug Administration earlier this year.

The program will also provide financial assistance to eligible uninsured and underinsured patients for reasonable expenses required for diagnosis, direct treatment, and care that are not covered by insurance.  These would include incidental medical expenses such as lab and diagnostic tests, as well as related expenses such as travel for a medical consultation.

Patients seeking information about the program, or to apply, may contact NORD through a toll free phone number (            800 999-6673       Ext. 326) or by email (cushings@rarediseases.org).

Prior to FDA's approval of Korlym on Feb. 17, 2012, there were no approved medical therapies for the treatment of endogenous Cushing's syndrome.  Korlym is approved for use in patients with endogenous Cushing's syndrome who have type 2 diabetes or glucose intolerance and are not candidates for surgery or have not responded to prior surgery.

NORD is a nonprofit organization, established in 1983, that represents the 30 million Americans with rare diseases.  In addition to patient assistance programs, NORD provides programs of advocacy, education, awareness, and research.
    

 
 

NORD Announces New Cushing's Syndrome Patient Assistance Program
19/4/2012 8:49:33 AM



In partnership with Corcept Therapeutics Inc., the National Organization for Rare Disorders (NORD) has established a Cushing's Syndrome Patient Assistance Program for patients with endogenous Cushing's syndrome who need financial assistance with certain costs related to their medical diagnosis and/or care.

Endogenous Cushing's syndrome is a serious and debilitating rare disorder caused by over-production of cortisol, a steroid hormone that increases blood sugar levels, by the adrenal glands.  The syndrome most commonly affects adults between the ages of 25 and 40.

"It is especially appropriate that we are making this announcement just before Cushing's Awareness Day, which will be observed on Sunday," noted NORD President and CEO Peter L. Saltonstall.  "The Cushing's Support and Research Foundation (CSRF), a non-profit organization for patients and families affected by Cushing's syndrome, is a member of NORD.  We are pleasd to join CSRF and the entire Cushing's community in promoting awareness of Cushing's syndrome at this time."

The new program, which launches on April 11, will provide assistance with deductible and/or co-pay expenses to ensure patient access to Korlym, a drug developed by Corcept and approved by the Food and Drug Administration earlier this year.

The program will also provide financial assistance to eligible uninsured and underinsured patients for reasonable expenses required for diagnosis, direct treatment, and care that are not covered by insurance.  These would include incidental medical expenses such as lab and diagnostic tests, as well as related expenses such as travel for a medical consultation.

Patients seeking information about the program, or to apply, may contact NORD through a toll free phone number (            800 999-6673       Ext. 326) or by email (cushings@rarediseases.org).

Prior to FDA's approval of Korlym on Feb. 17, 2012, there were no approved medical therapies for the treatment of endogenous Cushing's syndrome.  Korlym is approved for use in patients with endogenous Cushing's syndrome who have type 2 diabetes or glucose intolerance and are not candidates for surgery or have not responded to prior surgery.

NORD is a nonprofit organization, established in 1983, that represents the 30 million Americans with rare diseases.  In addition to patient assistance programs, NORD provides programs of advocacy, education, awareness, and research.
    

 
 

Get Involved - How can you help?
19/4/2012 8:44:08 AM
.A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.
A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.

One rare disease may affect only a handful of patients in the EU (European Union), and another touch as many as 245,000. In the EU, as many as 30 million people alone may be affected by one of the 6000 to 8000 rare diseases existing.

    80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
    50% of rare diseases touch children.


Characteristics of rare diseases

The 6000 to 8000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.

Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.


Common problems faced

The lack of scientific knowledge and quality information on the disease often results in a delay in diagnosis. Also the need for appropriate quality health care engenders inequlities and difficulties in access to treatment and care. This often results in heavy social and financial burdens on patients.

As mentioned, due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition symptoms differ not only from disease to disease, but also from patient to patient suffering from the same disease.


How can things change?

Although rare disease patients and their families face many challenges, enormous progress is being made every day.

The ongoing implementation of a better comprehensive approach to rare diseases has led to the development of appropriate public health policies. Important gains continue to be made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most “recurrent” ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures.

However, the road ahead is long with much progress to be made.

Get involved!
Some easy ideas

    Display posters, images or other awareness raising media such as ballons
    Distribute stickers and flyers
    Organise rare diseases events around topics paramount to patients
    Organise a competitive event focused on rare diseases
    Coordinate letter writing or email campaigns to local policy or national policy decision makers
    Arrange to meet with local and national authorities

A bit more planning

    Send a press release to the media
    Award advocates of rare disease patient causes
    Organise interviews with the media
    Organise fund-raising events
    Invite a VIP to endorse the Day
    Implement a help line providing information about rare diseases
    Organise a visit to a rare disease research lab by an MEP or Health Minister


Nord Press Release
12/4/2012 4:41:51 PM
. NORD Press Release
NORD Applauds SSA For Expanding Compassionate Allowances List

Program Provides Expedited Review for People With Severely Disabling Diseases

Washington DC-----Peter L. Saltonstall, president and CEO of the National Organization for Rare Disorders (NORD), today thanked the Social Security Administration (SSA) for expanding the list of "Compassionate Allowances" to provide fast-track disability decisions to Americans with the most seriously disabling medical conditions.

Saltonstall's comment was in response to an announcement yesterday by Michael J. Astrue, Commissioner of Social Security, that 52 new Compassionate Allowances conditions would be added to the list.  The new conditions primarily involve neurological disorders, cancers and rare diseases.

"The Compassionate Allowances program allows patients with certain very disabling conditions to receive disability decisions within days rather than months or years," Saltonstall said.  "This is very important to the patients and families NORD represents.  We appreciate the commitment of Commissioner Astrue and the SSA staff to improving the disability application process."

In announcing the additions to the list, Commissioner Astrue said that "Social Security will continue to work with the medical community and patient organizations to add more conditions.  With our Compassionate Allowances program, we quickily approved disability benefits for nearly 61,000 people with severe disabilities in the past fiscal year, and nearly 173,000 applications since the program began."

NORD and other patient advocacy organizations, as well as the National Institutes of Health, have provided input to SSA for the Compassionate Allowances program.  Commissioner Astrue originally announced the establishment of the program at a NORD patient/family conference.

Launched in 2008 with a list of 50 diseases and conditions, the program is aimed at identifying medical diagnoses that clearly meet the statutory standard for disability.  When individuals with those diagnoses apply for disability assistance, they receive fast-track review so that they are notified of the final decision within days.

The 52 new Compassionate Allowances conditions, which will become effective in August, bring the total to 165.  The list is posted on SSA's website, with the new conditions highlighted in red.

Saltonstall said NORD also commends SSA for improving its online disability application process.  Starting April 21, adults who file for benefits online will have the option to electronically sign and submit their medical records authorization forms, so that they may complete their disability application in a single online session rather than printing, signing and mailing some paper forms.

------------------------------------

CONTACT:

Mary Dunkle (mdunkle@rarediseases.org)


Why we need the Undiagnosed Diseases Program
1/4/2012 2:00:47 PM
The NIH’s Undiagnosed Diseases Program (UDP) has so far discovered two new rare diseases

After its first two years of work, the Undiagnosed Diseases Program (UDP) of the National Institutes of Health (NIH) released a report highlighting its results: 37 cases received a diagnosis, and 2 new diseases were discovered.

The UDP has the daunting task of providing answers and diagnoses to patients with medical mysteries that have long gone unsolved.Clinical researchers at the UDP take advantage of the expertise of their NIH colleagues in numerous medical specialties to collaborate in finding answers for these desperate patients. And in addition to helping individuals, they also work to advance the field of medicine with knowledge about both rare and more common conditions.

The UDP called for applications back in May 2008, received 1,191 cases over time, and accepted 326 patients into the program. Each application requires a summary letter from a referring healthcare provider and complete medical records. Unfortunately, due to the overwhelming number of applications, the program currently has a backlog and since July 2011 has suspended acceptance of new applications.

These numbers indicate the serious need for this program and highlight the thousands of people who are struggling to obtain a diagnosis. Working in rare diseases, we often hear stories from patients about their struggle to find a diagnosis, frequently taking years. Here’s one example from a Siren colleague: The Journey to Diagnosis Is Often Bumpy.

The UDP report focuses on 160 of the 326 patients accepted into the program. More than half of the accepted patients had undiagnosed neurological problems. Other categories included gastrointestinal disease, fibromyalgia and chronic fatigue syndrome, immune-mediated and rheumatic illnesses, psychiatric conditions, pain, dermatologic disorders, and cardiovascular disease.

“The limited rate of diagnosis during the program is sobering,” said William Gahl, MD, PhD, National Human Genome Research Institute clinical director and UDP director, in a press release. “While we wish we could arrive at a conclusive diagnosis for each patient, the reality is that many of their conditions are likely new diseases and we continue to pursue clues long after patients depart the hospital here at NIH.” To increase the success rate, the UDP plans to make case descriptions available to designated expert researchers, to both validate findings and enhance understanding of disorders.

Interestingly, of these patients evaluated at UDP, 23 patients were diagnosed with rare diseases, and of those 23, 15 cases involved extremely rare diseases affecting fewer than 10,000 people. As those of us who work in the rare disease space are aware, while these diseases may be identified, some lack diagnostic tests or medical definitions to describe them.

In February 2011, the program announced the first discovery of a new disease, called ACDC, or arterial calcification due to deficiency of CD73. A study on an additional new disorder is pending publication in a medical journal. Read more about the unique approach UDP takes to diagnose these medical mysteries.

Caryn Steinman is marketing coordinator at Siren Interactive

.

Source http://social.eyeforpharma.com/opinion/why-we-need-undiagnosed-diseases-program
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