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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
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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
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With less than 2 months to go, the organisers of the 
ECRD 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.
