On October 12,2000 my world was changed forever. After a long search my husband, Edward, and I finally knew what was wrong with our three beautiful children. On that day, our son Jordan, age eight,and our two twin girls, Samantha and Maxine, age seven, were all diagnosed with a rare genetic disease called familial dysautonomia, or "Riley-Day syndrome". 

All three of my children had been sick with chronic pneumonia from birth to about age four and a half. They got so sick, but their doctors couldn’t find any congestion. They had high fevers and febrile seizures. 

They were all delayed developmentally, in speech and language, and in gross and fine motor control. They were each diagnosed with epilepsy, asthma, and attention deficit disorder. While my children seemed to eat very well they always stayed small and thin and something seemed wrong with their digestion. 

For almost 8 years my husband and I searched for answers. We went to countless doctors and hospitals — some were helpful but admitted they just did not know what was wrong; others felt we should stop looking for an answer. Then a dear friend connected us to another doctor who told us to call Dr. Felicia Axelrod at New York University Hospital. 

When Dr. Axelrod asked me, "When your children cry, do they have tears?", my heart sank. I asked my husband to confirm. "No," I  responded, "my children do not have tears." 

Dr. Axelrod continued to ask me many questions about our children’s birth and early years. As she listened to our answers the pieces began to fit together like a puzzle. 

The kids had feeding problems. They often choked and sputtered on their bottles. They had syncope (fainting). Jordan, Samantha, and Maxine don’t feel pain like you and I. They don’t feel the sensation of heat until it is too late and they are already burned. 

They do not feel cold as you and I do. Jordan cannot control his body temperature when playing outside, even on a cool day. He easily overheats and may faint on the ground. The girls’ faces get bright red and they get very hot. My children’s eyes do not shed a tear. 

The puzzle Dr. Axelrod pieced together on that October day is called familial dysautonomia, or FD. Familial dysautonomia is a genetic disease present from birth that does not necessarily have a happy ending. Half of the children with FD who are alive today will not live to be 30 years old. 

Familial dysautonomia results in an incomplete development of the nervous system and ultimately a decreased number of nerve cells. The nerve cells affected are those that control certain sensations and autonomic functions. 

The sensory nerve cells most severely affected are those responsible for the perception of pain, heat, and taste. Autonomic nerve cells control bodily functions such as sweating, swallowing, regulation of blood pressure, regulation of body temperature, and the ability to cry with tears. 

While all children with FD have the same basic problem — incomplete development of the nerve cells — some children also have what are considered secondary problems, such as feeding problems, vomiting, poor growth, spinal curvature, and lung problems. 

As with other genetic diseases, FD may occur in more than one child in a family, and the degree to which a particular child is affected with both primary and secondary problems may also vary within a family. 

I am writing about my children in order to help others as well as ourselves. Familial dysautonomia is a recessive genetic disease, which means that both parents carry the gene despite a lack of outward signs. As such, the affected child has received a double dose of FD recessive genes, one from the mother and one from the father. 

One of the most distressing parts of the disease is that the recessive gene that causes familial dysautonomia occurs with a remarkably high carrier frequency in individuals of Eastern European Jewish ancestry. In fact, it is estimated that one in 30 individuals with Eastern European Jewish ancestry is a carrier of the FD gene. 

Now don’t cry for us yet — my children are warm, friendly and loving. And because of recent advances in research (see sidebar) we now have hope — hope that doctors and researchers will find a cure and hope that we will all live to see the day the disease is eradicated. 

For our dreams to become a reality, we need your help. Due to the small number of identified individuals with FD, there is little government support for research. In fact, it is likely that you had never even heard of this disease before reading this article. Subsequently, most research is funded by private donations. Together we need to fight this deadly disease both by donating funds for research and by educating everyone about it. Please raise your awareness and join the fight. 

Sondra Mallow is the mother of three children living with FD. She and her family live each day as a blessing in their Florida home. 

If you wish to obtain any additional information about FD, you can contact Sondra Mallow at home (11643 Magnolia Estates Road, Jacksonville, FL 32223) or contact the National Dysautonomia Research Foundation directly by using the web (www.ndrf.org), or calling (651) 267-0525. 

If you would like to submit a personal story for a future issue, email it to beingjewish@aol.com.  

If someone told you  your unborn child had a one-in-1,000 chance of having a birth defect, it’s likely you would do anything possible  to get more information, to be tested ahead of time, and to be prepared.  The truth is that if you are from Ashkenazic Jewish ancestry your chances of being a carrier of at least one genetic disease are considerably greater than that. You’ve probably never heard of all of the diseases before, nor seen the carrier statistics and the potential threats they pose to you and your family.  Below you’ll find estimated carrier statistics for some of the most serious Jewish genetic disorders. Disorder Gaucher Disease Tay Sachs Disease Familial Dysautonomia Canavan Disease Niemann-Pick Disease Fanconi Anemia Muclolipidosis Type 4 Nesisioblastoisis Bloom’s Syndrome Ratio 1 in 13 1 in 27 1 in 30 1 in 35 1 in 73 1 in 87 1 in 100 1 in 100 1 in 120 These statistics were gathered via a special section in the August 16, 2002 edition of Forward. Being Jewish’s three-part series on Jewish genetic disorders is an effort to educate our readers on the potential risks of simply being Jewish and having Jewish babies. Please direct all questions to your physician, and most importantly, be smart — get tested!

On Wednesday, January 10, 2001, by way of the Internet, Dr. Berish Rubin told the familial dysautonomia community that his team at Fordham University had identified the cause of the genetic disease. 

This discovery now allows people to be tested to determine whether they are carriers and will allow for genetic counseling. Also, once the genetic basis for any disorder is known, it is possible to pursue a cure. That will be the next step in research efforts both in the U.S. and Israel. 

All people of Jewish heritage, whether practicing or not, need to be tested. The gene does not know or care if you have changed religions or consider yourself a secular Jew. If you are a carrier, your children could be carriers and thus future generations could be affected. It only takes one parent to pass the gene along, although it does take two with the FD gene mutation to produce a child with this terrible disease. 

Genzyme Genetics, the largest provider of genetic services in the United States, as well as several other testing sites, now offers testing for familial dysautonomia. Testing can be ordered as a stand-alone test or part of its Ashkenazi Jewish Carrier Testing panel.Your blood will be tested for both genetic mutations that are known to cause FD. Many insurance carriers nationwide now cover testing for familial dysautonomia. Ask your doctor to call toll-free at (800) 255-7357.  

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