Familial dysautonomia, or " Riley Day Syndrome"

Familial dysautonomia, or

" Riley Day Syndrome"

Facts

• FD almost specifically affects people of Jewish descent with roots in Eastern Europe.
• 1 in 27 Ashkenazi Jews is a carrier of the gene that causes the disease.
• In order to inherit the gene, both parents have to be carriers.
• With each pregnancy, they have a one in four chance of having a child with FD.

("Familial Dysautonomia ARare Disease" 1).

It was not until February 2006, the New mother learned that her son was born with familial dysautonomia, a rare genetic disease, there are fewer than 350 people in the world with FD - with at least seven of them living in Rockland and Westchester.

"This is an incredibly rare life-threatening disease that most people have never heard of," said David Brenner, executive director of the Dysautonomia Foundation, which has its offices in Manhattan.

("Familial Dysautonomia ARare Disease" 1).

The story of Jack Posnack

What is Riley Day Syndrome?

The disease is autosomal recessive. This means two copies of the abnormal gene must be present in order for the disease to develop. The mutation impairs the growth, development and survival of autonomic as well as some sensory neurons.

( "Familial dysautonomia" 1).

By: Abby Zahra

When Jack Posnack was born on Dec. 7, 2005, his mother noticed something strange. When he was hungry, got shots Or when he was circumcised he never cried. At most, he whimpered.

He was born premature, but would not drink more than an ounce of milk,. He was then force fed through his tiny nose. A tube was inserted into Jack's chest and he was put on a respiratory machine to help him breath. His body temperature and blood pressure were erratic.

Doctors could not figure it out

("Familial Dysautonomia ARare Disease" 1).

Symptoms

FD

The image on the right, represents the absence of fungiform papillae on the tongue

Treatment

The highly vascularized fungiform papillae on the anterior third of the tongue are absent resulting in a smooth and glistening tongue tip.

There is only medications given to help manage the symptoms caused by Riley-Day, there is no cure.

• Medicine to prevent dry eyes
• Anticonvulsant therapy for seizures
• Protecting against injury
• Medicines to control vomiting
• Treating aspiration pneumonia

( "Riley-Day Syndrome" 1).

( D'Amico, Robert "Familial Dysautonomia Work up" 1).

Symptoms

The Mutation

• Dry Eyes
• Decrease in sense of taste
• feeding problems
• Poor growth
• Seizures
• Trouble breathing, tend to hold their breath for too long
• Skin blotching
• Lack of tears
• Inability to feel pain
• Inability to detect changes in temperature
• Poor coordination and difficulty balancing
• repeated fevers
• Sweating while eating
• unusual smooth, pale tongue surface
• Severe Scoliosis

( "Riley-Day Syndrome" 1).

• The disease is caused by a mutation in the IKBKAP gene which can be found on the ninth chromosome. It is a very rare mutation.

( "Riley-Day Syndrome" 1).

Thank You!

Citations

"Familial Dysautonomia." Dysautonomia Center. N.p., n.d. Web. 06 May 2014.

"Riley-Day Syndrome." U.S National Library of Medicine. U.S. National Library of

Medicine, n.d. Web. 06 May 2014.

D'Amico, Robert A. "Familial Dysautonomia Workup." Medscape. N.p., n.d. Web 07

May 2014.

"Familial Dysautonomia ARare Disease." Familial Dysautonomia a Rare Disease. N.p., n.d.

Web. 07 May 2014.

Diagnosis

• In order for one to find out if he/she has Riley-Day syndrome, one can be tested to confirm if they have the mutation IKAP FD gene.
• Genetic DNA testing is very accurate to diagnose Riley-Day Syndrome

( "Familial dysautonomia" 1).

Inherited

Prognosis

• Because of the advancements in both diagnosis and treatments, the survival rates of those who are victims of this disease are rising.

• Studies have shown babies who are born with the genetic mutation Riley-Day Syndrome has a 1 to 2 chance of living till the age of thirty.

( "Riley-Day Syndrome" 1).

• The disease is inherited.
• Most who have inherited this rare condition have had a parents of Ashkenazi Jewish ancestry
• Both parents have a history of being Eastern European.

( D'Amico, Robert "Familial Dysautonomia Work up" 1).