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Inspiration for Families Who May Pass on Inherited Genetic Diseases

PGD: Genetic Disorder

a blog by Laurence A. Jacobs, M.D., Fertility Centers of Illinois, March 5, 2012

As a fertility doctor, many of the articles I have written and topics I discuss with patients revolve around the issues of genetic screening, diagnosis and treatments.

When talking about these issues, I am not only advising from the perspective of a medical professional. I am also a father. My daughter Miriam has Tuberous Sclerosis, a serious genetic disorder that causes tumors to form in many different organs, such as the brain, eyes, heart, kidney, skin and lungs. The disease affects people in many ways, with some so mildly affected it goes undiagnosed, while most may experience frequent seizures, developmental delays, mental retardation or autism.

It is estimated that there are 50,000 people in the United States with Tuberous Sclerosis; however many people have never heard of the disease. This is the way it often is with many genetic diseases caused by single gene defects.

Reproductive Decision-Making

Tuberous Sclerosis is hereditary. Two genes have been identified that can cause the disease: the TSC1 gene, located on chromosome 9, and the TSC2 gene, located on chromosome 16. If one parent has Tuberous Sclerosis, children have a 50 percent chance of inheriting the disease. However Tuberous Sclerosis may also be caused by a spontaneous genetic mutation, and in the majority of cases in which a child is diagnosed with Tuberous Sclerosis, neither parent has the condition.

Preimplantation genetic diagnosis (PGD) offers families with a high risk of Tuberous Sclerosis or another genetic disease a way to help prevent these diseases when trying to build their families by testing embryos for a specific genetic mutation. PGD involves extracting one or more cells from embryos created via in vitro fertilization and sending the biopsy to a lab to test for the genetic defect. Once the results are known, the fertility doctor only transfers embryos with no known genetic abnormalities into the woman's uterus for implantation.

For families with a high risk for having children with a genetic disorder who wish to avoid making a decision about elective pregnancy termination after prenatal testing, PGD may be an excellent option in their family-building journey.

Parenting Inspiration

Being a father of a daughter with special needs for the past 25 years, I know first-hand about the emotional challenges of parenting.

I highly suggest that parents of children with special needs or parents who may pass on a genetic condition to their children read: "The Broken Toy: A Story of a Fragile X Syndrome Child." The short book is available for download on your iPhone, iPad or iPod Touch with iBooks and on your computer with iTunes.

Fragile X syndrome is a condition that causes a wide spectrum of developmental and behavioral problems that tend to be more severe in males. The condition occurs more commonly in men than women. It is the most common form of inherited intellectual disability.

Fragile X syndrome typically causes moderate intellectual disability in males, although the severity of intellectual impairment varies.

"The Broken Toy" is an emotional story about a child with Fragile X Syndrome and details the trials and triumphs of raising a child with special needs. The story is about a mother’s fight to gain the best for her son, who was born in 1977. The book takes us through the various stages of his life, from infancy to adulthood, and paints an honest picture of a young man who achieves much despite adversity.

"The Broken Toy" is inspirational for all parents and future parents.


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