The Rare Disease Taskforce: Key priorities of the National rare Disease
Plan. Presentation to the joint Oireachtas Committee on Health.
Philip Watt: Chairperson Rare Disease Taskforce; Chairperson MRCG and
CEO of Cystic Fibrosis Ireland
What is the Rare Disease Taskforce?
Led by patient groups, but also bringing together academics and representatives
from science and Industry
The Taskforce includes the following networks:
Genetic and Rare Disorders Organisation (GRDO)
Irish Platform for Patient Organisations, Science and Industry (IPPOSI)
Medical Research Charities Group (MRCG)
Includes the following patient groups: that have a focus on rare diseases
•22q11 Ireland
•Alpha One Foundation
•Ataxia Ireland
•Bee for Battens
•Cystic Fibrosis Ireland
•Cytsinosis Foundation Ireland
•Debra Ireland
•Fabry Ireland
•Fighting Blindness
•Huntington’s Disease
•Irish Cancer Society
•Muscular Dystrophy Ireland
•Raynards and Scleroderma Ireland
Why we need an effective plan?
Emma is 28 and has Epidermolysis Bullosa (EB)
EB means skin is very fragile and delicate and easily damages. Like most rare
diseases it’s a genetic condition and affects 300 people in Ireland. If you knock or
a rub can cause skin to blister and come off. Emma requires High doses of pain
relief. Despite this Emma says: ‘I never let it get me down. Research into better
treatments and cures for EB is happening worldwide. It is important to have an
organisation (Debra Ireland) that fights on your behalf’.
Ciara is in her mid 20’s and has Huntington’s disease.
HD is an inherited neurological disorder. Each child of an affected adult has a
50/50 chance of inheriting the disorder. There are more than 500 people in
Ireland. Begins with involuntary movements/balance problems progressively
impacts on organisation and perception skills and can involve mood and
personality changes. Impact not just on health including mental health but
employment, relationships:
‘ It sent a shockwave through my family as we found out we are all at risk. We knew
so little about the disease’
Sarah is 16 year old with Rett Syndrome, a rare genetic neurodevelopmental
disorder that mostly affects females with only 3 diagnoses a year in Ireland. It
causes profound multiple mental and physical disabilities and requires round the
clock care. Sarah’s mother says ‘Her needs will only increase and the services are
just not there’
Problems with the present system
Diagnosis: Lengthy delays or misdiagnosis, thus delaying treatment or wrong
treatment given
Information: Parents and patients have difficulty in accessing accurate
information and support
Treatment: Many rare diseases require treatment by multi disciplinary team in
specialised centres: Major gaps and weaknesses
Access to new and innovative therapies: Additional challenges for rare
diseases: Research costs very high; Fewer patients – less return on investment =
expensive drugs.
Insufficient funding of basic health research in Ireland
Major gaps in data (urgent strategic planning and support for registries and
electronic patient records) on which to plan services.
In adequate support or recognition of Patient groups
The way forward: Some key Elements of an effective plan on rare diseases:
Resourced National Office for Rare Diseases to ensure:
 Effective access to diagnosis
 Help develop specialised centres
 Support development of rare disease registries
 Provide a one-stop shop for information/advice
 Ensure that drugs and new therapies for rare diseases are not
discriminated against
 Transnational Co-operation including treatment abroad
 Good cooperation with NI
 Mainstreaming of rare diseases into existing and forthcoming national
policy