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.

lpi.ie | info@lpi.ie

Little People of Ireland (LPI) is the national charity in Ireland for people with dwarfism related conditions, providing information and support.

pituitaryireland.ie/ | pituitaryireland@yahoo.ie| 086 193 2611

The Pituitary Foundation of Ireland provides support and information for pituitary patients, their families, friends and carers. They provide support to people affected by disorders of the pituitary gland such as acromegaly, cushing's, prolactinoma, diabetes insipidus and hypopituitarism.

https://haemophilia.ie | info@haemophilia.ie| (0) 1 657 99 00

The Irish Haemophilia Society provides supports to people living with haemophilia, von Willebrand's and other inherited/inheritable bleeding disorders, and their family.

sicklecellsociety.ie/ | info@sicklecellsocietyireland.org

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

Marfan Ireland Facebook | info@marfan.ie|

Marfan Syndrome Support Group provides information and support for people living with Marfan Syndrome and their families.

metabolic.ie | metabolic@cuh.ie | 01 878 4317

The National Centre for Inherited Metabolic Disorders (NCIMD), also known as the Metabolic Unit, is located at Children’s University Hospital, Temple Street. It is the tertiary care referral centre for the investigation and treatment of individuals suspected of having a metabolic disorder in Ireland.

diabetes.ie/ | info@diabetes.ie| 01 842 8118

Diabetes Ireland provides support, education and advocacy to people living with diabetes in Ireland, and their families.

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.

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.

afi.ie | info@afi.ie | 087 361 6616

Ataxia Foundation Ireland provides information, support and activities for individuals with Friedreich's Ataxia and other Ataxias, and their families.

brittlebone.org  | admin@brittlebone.org| Contact form

Brittle Bone Society provide information for people with Osteogenesis Imperfecta (OI) and their families in Ireland and the UK.

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.

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.

downsyndrome.ie | info@downsyndrome.ie| 01 4266500

Down Syndrome Ireland provides information and supports for individuals with Down Syndrome and their families through their network of 25 branches throughout 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.

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.