NRDO Rare Disease Information Service

NRDO Rare Disease Information

The goal of the RD information service is to provide comprehensive information within an estimated turnaround time of a few days. The office provides current and reliable information about genetic and rare diseases to patients, families and health professionals between 09:00 and 1:30 Monday to Thursday through a standard telephone line, email and website. The Office is staffed by healthcare professionals who have significant experience working with people affected by rare diseases. If you have a question, or if your organisation works with rare diseases and you would like to share information with us, please contact us: by telephone 018545065; email: rare.diseases@mater.ie; RD Information is also available on the NRDO website www.rarediseases.ie.

The RD information service assists:
 People who have a rare or genetic disease, or an undiagnosed, likely rare disease (Syndrome Without a Name)
 Parents, family members and carers of someone with a rare or genetic disease
 Doctors, nurses, genetic counsellors, other health care professionals, social workers and teachers who work with people with rare or genetic diseases
 Scientists who are studying rare or genetic diseases and need information for their research or for people taking part in studies
 Policy-makers and other government agencies

We provide information on:
 Rare diseases
 Clinical expertise available in Ireland and Europe
 Patient support groups
 Social care supports
 Research projects and clinical trials in Ireland and abroad
 National and European RD healthcare policy

What we cannot do
The NRDO does not operate a RD clinic. We cannot diagnose, treat or co-ordinate care for people with RDs. Our role is limited to help people access reliable RD information. For enquiries that request assistance or information that is not within our remit, we will attempt to signpost a more appropriate agency or pathway to resolve the query.

Disease-specific information
People are welcome to share information they have found elsewhere and NRDO can comment on whether this is in line with the information found through our sources.

Disease-specific information
People are welcome to share information they have found elsewhere and NRDO can comment on whether this is in line with the information found through our sources.

The following are the main sites that NRDO use for disease-specific information:

Online Mendelian Inheritance in Man
It should be noted that Orphanet information tends to be geared towards medical professionals and may not be fully understandable by individuals who do not have medical knowledge. However, Orphanet does link to external information (below the disease summaries), which may be more reader-friendly.

Recommended websites that provide more patient-orientated information are:
Genetics Home Reference:
Unique-rare chromosome
Contact a family:
Mygene2

Information service users must be made aware that information provided from sites abroad (particularly American sites) may have treatment guidelines that are different from those used in Europe.
Clinical centre information
Orphanet contains the list of centres that are recognised multidisciplinary centres for RD expertise. Where no information for Ireland exists on Orphanet, NRDO may have information about centres with recognised expertise that have yet to register on Orphanet. Team clinicians and other clinicians from recognised centres of expertise may offer further guidance for Information Scientists.
Patient support organisation information
For many conditions, no Irish support group will be available. Orphanet may have support groups listed in the UK or further afield that may be helpful. All Irish patient organisations listed on Orphanet are registered charities in Ireland and have been checked to ensure that they provide patient support and are not solely a fundraising body. Orphanet data from other countries will have undergone a similar quality check by their national country coordinators.

Data sources:
contact a family for families with disabled children
Orphanet
Eurordis
Rareconnect

Research and clinical trial information
Collection of research study data by Orphanet Ireland is principally from public funders and should not be considered complete. Irish clinical trial data is registered on Orphanet with a time delay, you may also want to consult www.clinicaltrials.gov and https://www.clinicaltrialsregister.eu/

Service Gaps and Complaints
We recognise that sometimes patients and families have difficulty accessing services because of long waiting lists, gaps in services or for other reasons. If you are having difficulty accessing services, you must first contact your GP. The next step would be to contact the Patient information services in the relevant hospital. If you are still having difficulty the next step would be to contact yoursay@hse.ie.

I am having difficulty accessing hospital, community or specialist services
If you are experiencing difficulty accessing a specialist doctor or hospital-based services you may wish to contact Patient Information Services in your local hospital.

For general issues on service gaps and complaints that are not relevant to rare diseases contact HSELive 1800 700 700 to direct you.

I wish to make a complaint or provide feedback to the HSE
Your feedback is very important to us. You may wish to inform the HSE of your experiences with services or to make a complaint.

What if I can’t find the information I’m looking for?
Reliable information about rare or genetic diseases is often hard to find. If you cannot the information you need on our web site, you can phone or write to National Rare Diseases Office, and our Information Scientist will try to assist you contact us.

Orphanet is a database of rare disease resources that provides summary information on rare diseases. Also available is information about rare disease expertise by country in Europe. You can find more information on Orphanet beginners guide. A specialist within Ireland for your specific condition may not be listed in Orphanet. This does not necessarily mean that there is no expertise in Ireland for this condition – it may mean that the full range of services may not be available or that the service is in the process of being evaluated for inclusion in Orphanet. You can contact us Rare Diseases Office for help finding an expert centre or rare disease specialist in Ireland.