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FD UK

P.O. BOX 17679

London,

NW4 1WS:

Email: Committee@fd-uk.org

UK registered charity number 285399

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WHAT IS FAMILIAL DYSAUTONOMIA?

 

FD or Familial Dysautonomia (pronounced "Dys-auto-NOmia")is a genetic disease that affects male and female Jewish babies, primarily causing dysfunction of the autonomic andsensory nervous systems.

 

The autonomic nervous system controls bodily functions which are often taken for granted, such as:

• Regulation of blood pressure and body temperature.

• Normal swallowing and digestion.

• Ability to respond to stress.

 

Children with FD may drink fluids and be unaware that abnormal swallowing is misdirecting the fluid into theLungs, rather than the Stomach, causing Lung problems.Sensory abilities are needed to protect the body from injuryby ensuring prompt recognition, so that proper treatmentcan be given.

 

Children with FD often do not feel pain and may break abone, or burn themselves, without any awareness of the injury.

 

All FD people are different, here is Janes story:

PHYSICAL SYMPTOMS

 

Crying without tears is one of the most striking symptomsof FD.Other symptoms which may be present are:

• Poor suck at birth, drooling or feeding problems.

• Hypotomia (poor muscle tone) or "floppy baby" signs.

• Delayed developmental milestones such as walking or speech.

• Inappropriate temperature control with very high feversor very low temperatures.

• Wide swings in blood pressure.

• Episodic vomiting.

• Frequent lung infections or pneumonias.

• Decreased reaction to pain, or no reaction at all.

• Poor weight gain or growth.

• Excessive sweating.

• Blotchy reddening of skin with excitement or eating.

• Cold hands and feet.

• Smooth tongue (diminished number of taste buds).

• Early spinal curvature i.e. scoliosis.

 

Intelligence is normal despite delays in walking and speech

 

HOW IS THE DISEASE INHERITED?

 

It is estimated that one in thirty individuals of Eastern European Jewish ancestry is a carrier of the gene for FD.


All parents of children with FD are carriers of the defective gene that transmits the disease. The affected child has
inherited a double dose of the defective recessive gene, one from the mother and one from the father.


A parent has no symptoms or warning signs of being a carrier. When two carriers marry there is a 25% chance with
each pregnancy that the recessive genes will pair and produce FD in the child. Thus the first clue for most
individuals that they are carriers is the birth of a child with FD.

 

FD GENE IS IDENTIFIED

 

In 2001, the FD gene was identified by 2 research teams. There is now a prenatal diagnostic test for known carriers.
Lack of family history, however, is not a guarantee. We need to warn people that they might be carriers.

 

HOW CAN YOU HELP

 

• Provide grants to FD children to obtain additional therapeutic treatment,medications and medical and other
equipment they require, not provided by the NHS.


• Provide grants to FD children to travel abroad to obtain expert advice, diagnosis,treatment or surgery, when the same is not available in the UK.


• Provide grants for British speech therapists, physiotherapists and other health auxiliaries to go on advanced training programs in the treatment of FD.


• Provide grants for specialists from the Dysautonomia Centres in New York and Israel to visit and lecture to medical
specialists, therapists and nurses in London.


• Support the society's self-help group for FD families.