Storie di esperienza

A Closer Look at Genetic Testing: Claire


It took us 17 months and a roundabout way to receive a diagnosis. Claire presents more mildly and was misdiagnosed by two different genetic teams at major hospitals.

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We ended up 2,000 miles from home meeting with an endocrinologist specializing in a different syndrome who referred us to Dr. Ian Krantz at Children’s Hospital of Philadelphia (CHOP). Two days later, we were at CHOP, where she was clinically diagnosed with CdLS.

Claire’s diagnosis was in April 2005, a year after the NIPBL gene was discovered. Dr. Krantz asked if he could include her in his study and obtained a blood sample. She tested negative for NIPBL, but since they had her sample in the lab, her sample was tested each time a new gene was discovered.

I believe it was in the spring of 2010 that we received a phone call from CHOP saying they thought they had a gene match (it turned out to be HDAC8) for Claire and requested blood samples from my husband and I to see if the mutation was new to Claire, or inherited. It was new.

Doctors obtained additional information from us at the CdLS Foundation National Family Conference that summer in Dallas, and in the fall, Dr. Matthew Deardorff from CHOP obtained a tissue sample from Claire while traveling for work in our home state of California.

Fast forward to 2015 and you can often request genetic testing through insurance. More information about your child medically is usually a really good thing; it gives you a more complete picture. Sometimes people don’t want to know, but in this case, knowing opens up avenues for future treatment that might otherwise not be there.

It’s really useful to know what gene change your child has. As researchers gather larger subsets in each gene, it will improve the quality of information about what your child may be like, what complications might come up, and also give you specific information on how to treat your child’s medical, emotional and academic needs. Anything you can do to tailor treatments to enhance the quality of life for your child, in my opinion, is a huge advantage.

Not all of our questions were answered by testing, but knowing does explain some differences we see with Claire. Something that affects Claire may not be common to all people with CdLS, but it may be common to those with the HDAC8 change.
Knowing that it happened at conception also helps the “what could I have done differently?” question in the back of my mind. It releases me from any guilt because it’s the way my daughter was created. It let’s me take a deep breath and give my child the best life I can.

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Kimberly, Claire’s mother
Kimberly, Claire’s mother

It’s really useful to know what gene change your child has. As researchers gather larger subsets in each gene, it will improve the quality of information about what your child may be like, what complications might come up, and also give you specific information on how to treat your child’s medical, emotional and academic needs. Anything you can do to tailor treatments to enhance the quality of life for your child, in my opinion, is a huge advantage.

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Ultima modifica di Gerritjan Koekkoek il 2021/04/08 13:38
Creato da Gerritjan Koekkoek il 2015/08/07 17:48

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