Pilot Conditions

RareCareUK is currently piloting care for two diseases.  We are still at the fundraising stage, which will help us achieve all our aims, however some projects are already underway

Familial Dysautonomia

Familial Dysautonomia affects fewer than 20 people in the UK and there are estimated to be fewer than 1000 people worldwide.

It is a rare genetic disease causing dysfunction of the autonomic and sensory nervous systems, there currently is no cure for FD and death occurs in 50% of the affected individuals by age 30.

There are only three treatment centres in the world

  1. New York University Dysautonomia Center, New York, USA
  2. The Familial Dysautonomia, Hadassah Medical Centre, Jerusalem, Israel
  3. FD Now Centre at Fordham University, New York, USA

The charity in the UK which supports this condition- FD-UK, provides supplements and financial assistance to those affected and their families

RareCareUK will supplement the work of FD-UK by

  • providing access to the Rare Disease Specialist nurse, when required
  • encouraging interaction and knowledge transfer between international experts and UK professionals
  • establishing a research program

Chromosome 7 Abnormality

Tadgh, who lives in Dublin, is the only known child in the world with a duplication short arm of chromosome 7 at band 7p14.3.  This disorder is so rare that it has not even been named.

RareCareUK is

  • Raising awareness of Tadgh’s condition to enable him to raise funds to visit specialists in the US
  • Creating a forum for international specialists to meet and discuss the disorder
  • Creating a liist contacts who will help with respite

and in the long term, we will provide access to the Rare Disease Specialist nurse.

 

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