GRDO calls for establishment of National Rare Disease Office

Survey of patients highlights urgent need for development of co-ordinated healthcare pathways and a central information point on rare conditions

28 February 2012 - On the eve of international Rare Disease Day, the Genetic and Rare Disorders Organisation (GRDO) Ireland’s national rare disease alliance, is calling for the urgent establishment of a National Rare Disease Office to address serious shortfalls in health and social care for the estimated 6% to 8% of the population affected by rare conditions.

Results of a survey of individuals with rare conditions, published by GRDO today, reveals significant difficulties in the areas of access to diagnosis, information and to treatment, as well as a lack of coordination in delivery of services. 13.3% of respondents report waiting more than 10 years for diagnosis and 37.2% report receiving an incorrect diagnosis before the correct one. 73.1% of those surveyed report attending more than one hospital consultant or other medical professional for treatment yet 44.8% report not having a specific point of contact to go to with questions about their condition. 62.5% of respondents list the Internet as their main source of information.

The establishment of a National Rare Disease Office in Ireland and the development of co-ordinated healthcare pathways are the two changes to the healthcare system that respondents would most like to see  (82%), followed by more information about their conditions (73%).

A national office would act as a focal point for the development of a national registry of rare conditions, and a vitally needed information portal for patients and medical professionals. It would help patients to access Centres of Expertise, whether in Ireland or abroad, and ensure the best model of care for patients with faster diagnosis and access to treatment. It would also be cost efficient.

Speaking ahead of Rare Disease Day on 29 February, Chairperson of GRDO, Avril Daly, stressed that “the lack of a central co-ordinating point of information on rare conditions, and the lack of clearly defined healthcare pathways for those affected, puts this already marginalised group of people at even greater disadvantage. There are also hidden costs to the state associated with delayed diagnosis, inappropriate interventions and lack of co-ordinated care for people with rare conditions.”

“What must be prioritised, without further delay, is the establishment of a clinically led National Rare Disease Office as part of the programme for clinical care.  A business plan has been submitted to the HSE demonstrating  that providing high quality services to rare disease patients in a cohesive way through a central office can be cost-effective and will lead to better management of services and, most importantly, better outcomes for patients and their families.

“Ireland is on track to develop a national rare disease plan by 2013, in keeping with the 2009 EU recommendation. There is great solidarity among the rare disease community globally and at national level. Patient representatives, medical professionals, researchers, and policy makers have been working hard together to develop a National Plan for Ireland, and we look forward to seeing the public consultation process taking place in April this year,” Ms Daly continued.

For more information on the survey conducted by GRDO see below.


Notes to editors:

About Rare Disease
A rare disease affects fewer than 1 in 2000 people. There are more than 6000 rare diseases. Between 6% and 8% of the population are affected by a rare condition – that’s 270,000 + people in Ireland alone.

Genetic and Rare Disorders Organisation (GRDO)
GRDO, the Genetic and Rare Disorders Organisation, is the national rare disease alliance in Ireland, working on behalf of individuals and voluntary groups, to provide a strong voice and achieve better services for all those affected by rare conditions.

Rare Disease Day 2012
To mark Rare Disease Day 2012, GRDO collaborated with European Rare Disease Alliance, Eurordis, to produce a short awareness-raising video. The video features six people from Ireland, each with a different rare condition. To watch the video and find out more see or

Further information:
Kathy Tynan, Genetic & Rare Disorders Organisation
Tel 086 022 9262

Rare Disease in Ireland – Your Experience

Overview of Interim Results of Survey Conducted by the Genetic & Rare Disorders Organisation (GRDO) into Rare Disease Patient Experiences

28 February 2012

Respondent Profile

Of 116 responses to the survey to date, one quarter (25.9%) are directly from patients who have a rare disease.  75.9% of responses furnished are from those who describe themselves as “caring for someone with a rare disease”.  A total of 15 respondents also describe themselves as family members or “at high genetic risk of developing a rare disease.”

Many rare disease patients also care for other rare disease patients in their families (e.g. an affected parent whose child/children have inherited the condition). Many respondents also answered jointly on behalf of several family members with the same condition.

69 distinct rare conditions are listed by respondents . The subjects of the survey (i.e. those affected, who either responded themselves or whose carers responded for them) have an average age of 24 years. Almost three quarters of them (72.4%) reported that their rare condition is genetic, although 13.8% “don’t know” whether their condition is genetic as well as rare.
13% say they are registered with the National Intellectual Disability Database (NIDD) and 15% with the National Physical and Sensory Disability Database (NPSDD). While more than half of respondents say they are not registered with either, over one third “don’t know” whether or not they are registered.

Diagnosis and Referral

Waiting time for diagnosis was reported as more than 10 years by 13.3% of respondents. Just over one third (35.4%) were diagnosed within six months of the onset of symptoms. 1.8% of those who took the survey said that they still do not have a definite diagnosis.  37.2% received an incorrect diagnosis before receiving the correct one.

70.4% of respondents report having to wait less than three months after diagnosis for referral to a consultant or specialist. 6.5% waited more than 18 months. Among the patient comments on referral are statements that no specialist is available in Ireland in the relevant condition and so there was no referral in these cases.

Treatment and Care

Almost three quarters of respondents (73.1%) are receiving treatment from more than one hospital consultant or other medical professional for their condition. Over half of these (52.6%) report attending between 2 and

5 different medical professionals, and 5.1% report attending more than ten different medical professionals for their treatment.

17% of patients have accessed medical care for their condition in another country. 23% have accessed genetic testing abroad.

The five most common services for which people are waiting to access are: occupational therapy; respite; speech and language therapy;  benefits advice; and specialist clinics. Incidences of very long waiting times for essential treatment and care are common, and a small number of patients report paying privately for certain services, most frequently counselling, while waiting to receive them.

41 % of respondents do not consider that they have access to the best medical care for their condition. A further 31% only “somewhat agree” that their medical care is as the best available. 29% “disagree” or “strongly disagree” with this.  Of those who offer further comments on this topic, many state that medical professionals have little or no knowledge of their condition or that appropriate care is simply not available in Ireland.

Others report long waiting times for appointments and the need to pay privately to be seen within a reasonable timeframe.  In some cases the paediatric system for a condition is effective but difficulties exist in obtaining good adult services for the same condition. It is common for patients and families to feel that they are left to lead the search for information and treatment relating to their condition.

When asked about changes in the health system that would make a great difference to them:
-          82% of respondents choose “The establishment of a National Centre for Rare Diseases in Ireland”
-          82% list “All health and social care professionals I interact with talk to each other about me and my care plan”
-          73% opt for “More information about my condition”
-          67% say “Easier / quicker access to financial support and benefits”
-          64% choose “Access in Ireland to medicines / treatments available in other countries”
-          61% list “Shorter waiting time for referral”
-          55% say “Shorter waiting time for diagnosis”

Information and Support

68.8% of respondents state that they do not feel that they were provided with sufficient information on their condition following diagnosis. Many comment that they did all the information gathering themselves, mainly using the Internet. Others report relying on patient support organisations for all information.  Lack of genetic counselling or long waiting times for genetic counselling is also a major issue.

55.2% of respondents state either that there is no patient support group in Ireland for their condition or that they do not know of one.

When asked who is their main source of information on their condition, respondents listed as follows:
-          Internet 62.5%
-          Other individuals / families with the condition 37.5%
-          Hospital Consultant 35.4%           
-          Patient organisation 29.2%
-          Social media (e.g. Facebook, Twitter) 26%

Fewer than 10% of respondents list a member of the genetics team, a GP or a nurse as being their main source of information on the condition.

62.5% consider that patient support groups provide an “essential” service in giving information and support to those affected by rare disease, and a further 31.3% consider the service they provide either “very important” or “important”.

In relation to patients receiving sufficient support, respondents most frequently highlighted insufficient support in the following areas:
-          Information services 69%
-          Genetic services / counselling 67%
-          Psychological support 66%
-          Financial support / benefits 62%
-          Family support services 61%

Furthermore 44.8% of respondents report not having a specific point of contact to go to with questions about the condition. Of those who have a specific person, these include hospital consultants, nurses, patient support groups, GPs, researchers and “other family members”

Education and Employment

55.2% of respondents report that the rare condition affects their ability to participate in full-time education or employment. 44.8% say that their condition either does not affect or only “somewhat” affects their ability to participate.

35.4% of respondents say that lack of support / flexibility in relation to the rare condition excludes them from education and employment opportunities. 29.2% say lack of support or flexibility “somewhat” excludes them and a further 35.4% do not feel excluded in this field due to lack of support / flexibility relating to their condition.

Research into the Condition

Only 12.6% of respondents are aware of a patient registry in Ireland for their condition. 10.5% are aware of a relevant patient registry in another country.  64% are not aware of any patient registry for their condition anywhere.

69.5% of respondents state that they are not informed of clinical trials or research relating to their condition. 75.8% have not participated in any research into their condition. A total of 21% say that they have participated in research, either in Ireland (14.7%) or elsewhere (6.3%).

Some Quotes from Respondents

“Found the whole process from receiving diagnosis to getting to see consultant very slow.”       

“One thing evident in all my 34 years is the general lack of understanding. It also frustrates me that doctors think I am mentally incapable based on my looks. I have met a few doctors that know about my condition and it’s always a pleasure not to have to teach the doctor about my syndrome.”  

“I would like to know parents who have a child with the same condition as sometimes I feel no one really understands.”               

“Rare diseases can have a huge impact on family life and this has a knock on effect on siblings. Where Irish medical professionals have no knowledge/experience of a condition there has to be support (including financial support) provided to assist families access medical facilities abroad.”           

“Decrease in our income has made life very hard for all the family and the uncertainty of continuance of benefits is very stressful, which adds to the misery of the illness.  Having to wait twelve months for an MRI is hard on the nerves as, after that, I still have to wait for treatment and, while I wait, I live with the pain which is constant. "

"No advice available from medical professionals on testing my children and siblings children. Three year battle to get treatment - no clear system to appeal decisions etc. Ministerial involvement required. No sense of urgency to stop the progression of the disease by anyone. Lonely place to be in!!!"

“I don't like the words "disease" or "patient" being used constantly.  These words should be replaced with "condition" or "disorder" and "client" or "member".  I am not sick - I have a physical disability.”

“Cannot stress enough the need for proper support on leaving the hospital with diagnosis.”      

“GPs don't seem to know enough about it.”       

“Had to go to UK to be fully informed and for them to help and explain what the future can hold or should hold for our son.”    

“… (the patient organisation)… have been essential in the support of our daughter …. However in the last few years the support we have received from the HSE in Ireland has fallen dramatically to the point where her symptoms have worsened due to the lack of care provided to her.”

“It impacts on the whole family, extended and nuclear.  Parents careers are limited and affected, children's options are limited.  It is hard having to always explain the condition to people.”

“The outcome of this disease is already a terrible and difficult prognosis for any person to digest in the pre-symptom stage of their life. The health insurance complications and obstacles to access of impartial and practical information from the HSE has made it even more difficult. I would refer to the …(patient organisation) before ringing the public health nurse as they are a lot more approachable and more willing to offer the help I need at this time.”

“Very simply we need centre of excellence that treats the whole person rather than shattered services if you are in the right place or if you know the right people.”

“Devastating! Families struggle to give love and support to their loved ones.  It can be a very lonely road as it is not so easy to talk about how painful it is to watch the person lose all their cognitive and physical functions.  The physical manifestations cause people to stare, talk over the head of the person and generally ignore them!  As a society we need be educated to be inclusive.”