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Fragile X Syndrome

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Information About Fragile X Syndrome and Possible Misdiagnosis

What is Fragile X Syndrome?

Fragile X syndrome is the most common cause of inherited mental retardation and autism. It occurs in both sexes and in all racial and ethnic groups. The syndrome is associated with a wide range of mental and emotional problems, including mental retardation, autistic like behavior, attention deficit, depressed affect, aggressive tendencies, language difficulties and developmental delay. Boys are generally more severely affected than girls, but not always. Unfortunately, Fragile X syndrome is incurable.

Fragile X syndrome is an inherited disorder. People who simply carry the Fragile X gene may not be affected or have any symptoms, but they can pass the gene for the syndrome to their children. A simple blood test can determine whether or not a potential parent is a carrier of the Fragile X gene. If positive, several different tests can be performed on the fetus to determine if the fetus is affected with the syndrome.

Standards of Care for prenatal diagnosis of Fragile X Syndrome

A detailed history should be taken from all pregnant women wishing to identify risk factors for genetic disorders. Information collected should include the health status and presence of genetic disorders or carrier status of parents and relatives, as well as inquiry into ethnic and racial background. According to established guidelines*, testing should be offered:

  1. If either parent has mental retardation, autism, attention deficit, depressed affect, aggressive tendencies, language difficulties or developmental delay;
  2. If any relatives (alive or deceased) of either parent have mental retardation without a known cause;
    * ACOG Practice Guidelines, October, 2005 (Vol. 7, No. 8)

Your Rights in the Event of a Fragile X Syndrome Prenatal Misdiagnosis

In order to recover, parents must prove that a medical provider’s negligence prevented them from learning that there was an increased risk that the fetus had a significant birth defect or genetic condition. They must also establish that they would likely have terminated the pregnancy had they been advised of the problem. In doing so, they are not in any way calling into question their love and devotion to their child – that relationship has already been established and will continue forever. Instead, they are merely acknowledging that if told of the defect or disease during the pregnancy, they would have likely chosen not to undertake the financial and emotional hardships involved in parenting a severely disabled child with a lifelong disability. Because the child would not likely have been born if the medical provider was not negligent, these claims are often referred to as “wrongful birth” claims.

The New Jersey Supreme Court has held that if a wrongful birth claim is established, the negligent medical provider is required to provide compensation for the needed medical expenses and any other expenses related to the child’s condition over the child’s lifetime. In addition, compensation must be provided to the parents for the emotional injury and anguish suffered in being compelled to take on the lifetime tasks and burdens of parenting a disabled child.

What to Do After a Fragile X Syndrome Misdiagnosis

Fragile X syndrome can vary greatly in severity, with symptoms ranging from mild to severe and debilitating. The expenses involved in making sure a child with Fragile X syndrome gets the best care and education possible can be enormous. Such children may not be capable if living independently as adults, and supervision may be necessary throughout the child’s lifetime. There may be a significant difference in the treatment and services that private medical insurance, a public school system, or such programs as Medicaid will cover, and the most desirable state of the art treatment and education. If your child has Fragile X syndrome, and you did not learn of this diagnosis in time to exercise a choice as to whether to continue the pregnancy, you may be entitled to compensation. Proceeding with a claim may be the only way to ensure your child has the financial resources to access the best available care.

Collectively, New Jersey medical malpractice lawyers Michael L. Weiss, Esq. and Robert E. Paarz, Esq. have presented over 30 prenatal misdiagnosis, wrongful birth type cases to juries, helping many families obtain the financial assistance needed to lessen or eliminate the financial burden caused by birth defects and genetic diseases. If you would like to discuss possibly pursuing a claim, contact Weiss & Paarz, P.C., today.

Resources to find out more about Fragile X Syndrome

More information about Fragile X syndrome can be found from any of the below websites affiliated with the National Institute of Health:


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