Houston Area Pediatric Specialists

Independent pediatric specialists aim to serve our community. We want to share news and analysis regarding our specialties and our practices.

Sunday, September 18, 2011

Screening for Jewish Genetic Diseases

Yesterday I attended a presentation by the Atlanta Jewish Gene Screen.  Important take-home points:

  1. There are now 19 known genetic diseases  that are common in Jews of European origin.  Some of these are common in all Europeans (e.g  cystic fibrosis, SMA). 
  2.  One in 5 Jews of Eastern European origin are carriers for one of these diseases. 
  3. If you have even one Jewish grandparent of European origin  or if your heritage is unknown, you should be screened for carrier state of one of these illnesses. 
  4. If your  partner is a Jew by choice (i.e a convert to Judaism) or if you are an interfaith couple, screen the Jewish partner 1st.
  5. Some of these illnesses are treatable.  In any case, knowledge gives you the power to prepare for the future.
  6.  If you have any questions, talk to a genetic counselor.
  7. Check if genetic testing is covered by your insurance. Sometimes it is not covered. In any case, the cost of screening has dropped to a few hundred dollars.  
Call my office for any questions.  
Dr. Josh Rotenberg. 
www.txmss.com 713-464-4107

We have made Eden's story public because we wanted to save other families from suffering this tragedy. If every prospective Jewish parent takes one simple blood test, we can make sure Eden’s story does not happen again. - Caroline & Andy Gold

Download the full list here

The Atlanta Jewish Gene Screen link is an awareness and community screening campaign generously funded by The Marcus Foundation. Spearheaded by the Victor Center for the Prevention of Jewish Genetic Diseases, the project is dedicated to building awareness among doctors, rabbis and our community about the genetic diseases affecting Ashkenazi Jews; the importance of genetic counseling and screening; the availability of preconception screening for all 19 preventable and many life-threatening disorders; and the need to update screening prior to each pregnancy. The Atlanta Jewish Gene Screen is also hosting two community screenings a year: one in the fall and one in the spring. Advanced registration will be required on this site.

Face the Facts, it’s not just Tay-Sachs!
Currently, there is carrier testing for 19 preventable genetic diseases affecting Ashkenazi Jews, most of which are life threatening. Below are brief descriptions of each disorder with the approximate carrier rate (the proportion of Ashkenazi Jews who have a single copy of the specific recessive gene mutation) in parenthesis.
Bloom Syndrome - Characterized by short stature, a sun-sensitive skin rash, an increased susceptibility to infections and higher incidence of leukemia and other cancers. (1 in 100)
Canavan Disease - A neurodegenerative disorder that presents with normal development until 2-4 months and then there is a progressive loss of skills. Those affected typically die in childhood but may live into adolescence. (1 in 40)
Cystic Fibrosis - Causes the body to produce thick mucus that accumulates in the lungs and digestive tract, resulting in lung infections and poor growth. (1 in 25)
Dihydrolipoamide Dehydrogenase Deficiency (DLD Deficiency) - Presents in early infancy with poor feeding, frequent episodes of vomiting, lethargy and developmental delay. Affected individuals develop seizures, enlarged liver, blindness and ultimately suffer an early death. (1 in 96)
Familial Dysautonomia - Causes the autonomic and sensory nervous system to malfunction, affecting the regulation of body temperature, blood pressure and stress response, and causes decreased sensitivity to pain. Frequent pneumonia and poor growth may occur. (1 in 30)
Familial Hyperinsulinism - Characterized by hypoglycemia that can vary from mild to severe. It can be present in the immediate newborn period through the first year of life with symptoms such as seizures, poor muscle tone, poor feeding and sleep disorders. Medical or surgical management can control glucose levels. (1 in 66)
Fanconi Anemia Type C - Associated with short stature, bone marrow failure, and a predisposition to leukemia and other cancers. Some children have limb, heart or kidney abnormalities and learning difficulties. (1 in 89)
Gaucher Disease Type 1 - A variable condition both in age of onset and symptoms. It may present with a painful, enlarged spleen, anemia, and low white blood cell count. Bone deterioration is a major cause of pain and disability. Treatment is available. (1 in 14)
Glycogen Storage Disease, Type 1a - A metabolic disorder that causes poor blood sugar maintenance with sudden drops in blood sugar, growth failure, enlarged liver and anemia. Disease management involves lifelong diet modification. (1 in 71)
Joubert Syndrome - Characterized by structural malformations of the cerebellar vermis. The most common features of Joubert syndrome in infants include abnormally rapid breathing, hypotonia, jerky eye movements (oculomotor apraxia), developmental delay, and ataxia. Kidney and liver abnormalities can develop, and seizures may also occur. (1 in 92)
Maple Syrup Urine Disease - A variable disorder of amino acid metabolism. Named for the characteristic maple syrup smell of urine in those with the disorder. With careful dietary control, normal growth and development is possible. If untreated, it can lead to poor feeding, lethargy, seizures and coma. (1 in 81)
Mucolipidosis IV (ML4) - A progressive neurological disorder with variable symptoms beginning in infancy. Characteristics include muscle weakness, severe intellectual disabilities and eye problems. (1 in 125)
Nemaline Myopathy - This is the most common congenital myopathy. Infants are born with hypotonia and usually have problems with breathing and feeding. Later, some skeletal problems may arise, such as scoliosis (curvature of the spine). In general, the weakness does not worsen during life but development is delayed. (1 in 66)
Niemann-Pick Disease Type A - A progressive neurodegenerative disease in which a harmful amount of fatty substance accumulates in different parts of the body leading to death by age two to four years old. (1 in 90)
Tay-Sachs Disease - An apparently healthy child begins to lose skills around 4-6 months of age and there is a progressive neurological decline leading to blindness, seizures and unresponsiveness. Death usually occurs by the age of 4-6. (1 in 25)
Spinal Muscular Atrophy (SMA) - A group of diseases affecting the motor neurons of the spinal cord and brain stem, which are responsible for supplying electrical and chemical signals to muscle cells. Without proper signals, muscle cells do not function properly and become much smaller (atrophy), leading to muscle weakness. Individuals affected with SMA have progressive muscle degeneration and weakness, eventually leading to death. (1 in 41)
Usher Syndrome Type 1F - Characterized by profound hearing loss which is present at birth, and adolescent-onset retinitis pigmentosa, a disorder that significantly impairs vision. (1 in 141)
Usher Syndrome Type III - Causes progressive hearing loss and vision loss. Hearing is often normal at birth with progressive hearing loss typically beginning during childhood or early adolescence. Often leads to blindness by adulthood. (1 in 107) 
Walker-Warburg Syndrome is a severe muscle, eye, brain syndrome. It presents with muscle weakness, feeding difficulties, seizures, blindness with eye and brain anomalies and delayed development. Life expectancy is below 3 years. The carrier frequency in the Ashkenazi population for one Ashkenazi founder mutation is approximately 1 in 149 and the detection rate is >95%.