Mucolipidosis IV Foundation
ML4 is a genetic disease causing mental retardation, retinal degeneration, and limited lifespan. The mission of the Foundation is to fund, promote, and support medical research dedicated to developing treatments and a cure for ML4.
Genetic Counseling
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The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of pre-natal testing, is before pregnancy.
- Prospective parents can be screened for being carriers of ML4 with a simple blood test.
- If both parents are found to be carriers of ML4, or any other genetic disease, they should consult a genetic counselor. The carrier rate in Ashkenazi Jews is 1 in 100.
- A genetic counselor can provide important information and support, which may be helpful in making family planning decisions.
- Pre-implantation Genetic Diagnosis (PGD) maybe an option for prospective parents who are both carriers of ML4.
- If already pregnant, and both parents have been identified as ML4 carriers, amniocentesis can be performed. This is usually performed at approximately 15 to 18 weeks gestation.
- ML4 is an inherited autosomal recessive disease. If both parents are carriers, then each child has a 25% chance of inheriting the disease, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected (not even being a carrier).
Randy Gold, ML4 Foundation Vice President, was named the 2011 Jewish Community Hero sponsored by the Jewish Federations® of North America for his efforts around promoting awareness of the 19 known preventable Jewish Genetic Diseases.
