Diagnosing Tay Sachs in impacted embryos prior to IVF

Tay Sachs is no welcome guest to any family’s gene pool. Known to be almost always fatal,  it is a cruel genetic disorder passed on primarily with those of Jewish or Irish decent.

Children with Tay Sachs appear normal at birth, yet soon start to lose physical and sensory functions as well as cognitive skills. A child who once crawled will more than likely become “limp” and in need of constant care by the age of two.  Babble and words will be replaced by silence, cries or the sounds made by one in pain.

Tay Sachs has no cure. There is no magic pill or treatment. Most children with the disease will die by the age of five. Some variants of Tay Sachs develop later, thus having some survive to their teen years, but the results are always tragic.

While there are many efforts to screen couples for this disease prior to conception, it is possible that a couple will become pregnatay-sachsnt  before knowing that one or both parents are  carriers of the Tay Sachs gene, therefore starting the game of genetic roulette.  In effect, for every dual carrier family (both mom and dad) there is a 25% chance that the child will born with the active Tay Sachs disease.  (See the infographic).

For others,  proactive options such as Preimplantation Genetic Diagnosis  (PGD),  a specific fertility IVF procedure,  can be utilized to determine healthy from unhealthy (Tay Sachs impacted ) embryos.  This is a new innovation in the world of reproductive medicine and one that is available in the United States and very little elsewhere. It also is a reason why couples seeking to ensure healthy babies will visit the US from abroad to avail themselves of  PGD.

In closing, passing on  Tay Sachs disease to a child is now preventable thanks to to modern medicine.  Science has evolved and perhaps now we are finally able to  put an end to the heartache of this disease and others with similar tragic outcomes.

RESOURCES
For more information about Tay Sachs Disease click these links:

http://kidshealth.org/parent/medical/genetic/tay_sachs.html#
http://www.ntsad.org

 

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