tscireland.org | info@tscireland.org

TSC Ireland provides information and support to individuals with Tuberous Sclerosis Complex (TSC) Ireland and their families.

dravetsyndromeireland.org/ | info@dravetsyndromeireland.org

Dravet Syndrome Ireland provides support and information for families affected by Dravet Syndrome and other severe genetic epilepsies in Ireland.

sicklecellsociety.ie/ | info@sicklecellsocietyireland.org

Sickle Cell Society Ireland provides patient, parent and carer support and advice and provides referrals, education and training.

orpha.net/

Orphanet aims to provide high-quality information on rare diseases. The website allows you search for information on a rare disease and also provides information about expert centres, patient organisations, clinical trials and research projects related to that disease.

mdi.ie | info@mdi.ie| 01 623 6414

MDI provides support for people and their families who are living with muscular dystrophy and related neuromuscular conditions.

rareconnect.org/en/ |

A safe, easy to use platform where rare disease patients, families and patient organizations can develop online communities and conversations across continents and languages.

facebook.com/IrishEDSandHSD/ | annedmicks@gmail.com| 087 602 5361

The Irish EDS Foundation raises awareness and offers support for those diagnosed with Ehler Danos Syndrome or Hypermobility Spectrum Disorder or seeking a diagnosis in Ireland

https://www.nfaireland.ie | info@nfaireland.ie| 085 702 0024

The Neurofibromatosis Association of Ireland provides information and supports for patients diagnosed with Neurofibromatosis and their families.

Facebook Support Group

A Facebook group where adults with Omphalocele/ Exomphalos and parents of children with Omphalocele/ Exomphalos can support each other.

softireland.com | soft.contactme@gmail.com| 1800 213 218

Soft Ireland provides information and support for families with a diagnosis of Trisomy 13/18 (Patau's/Edward's Syndrome).

huntingtons.ie | info@huntingtons.ie | 01 872 1303

The Hun22tington’s Disease Association of Ireland provides information, support and advocacy to people impacted by Huntington's Disease and Juvenile onset Huntington’s Disease.

rettsyndrome.ie | Contact form | 087 615 2183
Rett Syndrome Ireland provides support and information to parents and families of people affected by Rett Syndrome and related disorders.

cystinosis.ie | mail@cystinosis.ie| 01 687 5758

Cystinosis Ireland provides support and resources to families with cystinosis, from the early stages of diagnosis through to adulthood.

tcgi.ie | info@tcgi.ie| 0818 887 637

Turner Contact Group Ireland provides information, resources and support for those affected by Turner Syndrome and their families

williamssyndrome.ie | info@williamssyndrome.ie | 087 2398055

Williams Syndrome Ireland provides support and practical help to people with Williams Syndrome and their families

fragilexireland.org | Contact form

The Irish Fragile X Society provides support and information for families caring for individuals with Fragile X.

angelman.ie | admin@angelman.ie

Angelman Syndrome Ireland provides information and supports for families and caregivers throughout Ireland offering practical and emotional support. p>

smaireland.com | info@smaireland.com

SMA Ireland represents people and families in Ireland affected by Spinal Muscular Atrophy. It is a registered charity dedicated to raising awareness of Spinal Muscular Atrophy in Ireland and campaigning for access to treatment for all.

pku.ie | info@pku.ie

The PKU association of Ireland helps and supports those affected by Phenylketonuria (PKU), and other metabolic disorders that can be managed just like PKU.

sicklecellireland.ie | info@sicklecellireland.ie| 089 420 3682

Sickle Cell and Thalassaemia Ireland (SCTI) is a charity run by Sickle Cell and Thalassaemia families, carriers and volunteers to raise awareness of and support for Sickle Cell and Thalassaemia patients and their loved ones in Ireland.

22q11ireland.org | twenty.two.q@gmail.com| 087 7412856

22q11 Ireland aims to provide lifelong support for those impacted by 22q11/DiGeorge Syndrome. They provide information, peer support groups and information for patients and families.

pwsai.ie | info@pwsai.ie| 087 385 1387

The Prader-Willi Syndrome Association of Ireland provides supports and information for people with Prader-Willi Syndrome and their families.

alpha1.ie/a> | alpha1@rcsi.ie| 01 8093871

Alpha-1 Foundation Ireland provides information and services for people living with Alpha-1 Antitrypsin Deficiency (Alpha-1), and their families.

cfireland.ie | info@cfireland.ie| 1800 832 022

CF Ireland provides information, supports and grants for people living with Cystic Fibrosis and their families.

debraireland.org | info@debraireland.org | 01 4126924

DEBRA Ireland provides support services to patients and families living with epidermolysis bullosa (EB).

Rare Ireland What Comes After A Diagnosis

Advice and personal stories from parents of children with a rare diagnosis

facebook.com/swan.ireland.77 |syndromeswithoutanameireland@gmail.com

SWAN Ireland is a new Irish support group, specifically dedicated for people who have a syndrome with no known diagnosis, and their families, living in Ireland.

rdi.ie/ | advocacy@rdi.ie

The Rare Diseases Ireland website has useful information about rare diseases, undiagnosed conditions, clinical trials and and how to connect with patient organisations in Ireland and abroad

hse.ie/NRDO | rare.diseases@mater.ie| tel:01 854 5065

The National Rare Diseases Office (NRDO) provides current and reliable information about genetic and rare diseases to patients, families and health professionals.

rareireland.ie | rareireland@gmail.com

A charity supporting families living with a rare condition.

View Leaflet | soft.contactme@gmail.com| 1800 213 218

SoftIreland has prepared a leaflet for parents who have received a fatal fetal or life-limiting diagnosis during pregnancy