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To Add or Not to Add, That is the question.

  • The views and opinions expressed in this post are those of the author and do not necessarily reflect the official policy or position of Genetic Alliance.

    Many factors are considered by the Department of Health in any state to add a condition to the NBS list.  Is it a disorder that could result in death or serious medical situation, will early treatment make a difference, is reliable testing available for the condition, and are follow-up tests available for this condition?

    If NBS were to identify conditions with uncertain impairment and no medical treatment required early in life, what is needed to support these children and their families? Concerns of expansion of NBS, especially of "untreatable conditions", can be alleviated if families are provided specific support, including: understandable information, professional and parent support, active surveillance of the child, and general and targeted intervention.           

    In summary, the test or report is only the first step for families; meeting professionals, learning new vocabulary, handling uncertainties, accessing information, and obtaining emotional and functional support would be needed as well.

    A condition that would be in the category of "untreatable" or deemed "clinical care" later by the primary care provider (PCP) is Fragile X syndrome (FXS).  FXS is the most common known cause of inherited intellectual disability. FXS symptoms range from learning disabilities to more severe cognitive or intellectual disabilities. Delays in speech and language development are common, as are a variety of physical and behavioral characteristics. - See more at: www.fragilex.org.

    The time of diagnosis of FXS has greatly improved from 36 months to about 24 months in the last ten years. Mostly because of the genetic implications in the family, national and state newborn screening programs should consider this condition more seriously. This information could cause families to delay another pregnancy because of risk to a future child, realize their child may have been misdiagnosed with autism (even though 6% of persons with FRX have autism too), receive a diagnosis of Fragile X associated premature ovarian insufficiency (FXPOI), which can cause pre-mutation carriers to go through early menopause. This information could even prevent the possible misdiagnosis of Parkinson in male pre-mutation carriers that may have a condition called Fragile X associated tremor/ataxia syndrome (FXTAS).

    Many families would make decisions differently knowing this information immediately after the birth of their child with Fragile X. This information can answer many questions of the family and through all generations of the extended family.

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