Ep. 35 Abby and Amy's 22q Story

Abby is a fraternal twin and within her first few months of life her mom Amy could tell that something was a little different with Abby but she didn't know what. She had speech delays, gross motor delays but just didn't know what it could be. Then at the age of 7 Abby was going to get her tonsils removed with the doctor, who happed to have studied 22q, was able to look at Abby and tell that she had 22q. That is when she was sent for genetic testing which then confirmed his hypothesis.

This episode was recorded on May 17, 2023

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Within this episode we discussed:

• acid reflux
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• speech delays
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• gross motor delays
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• 7 had her tonsils removed and the doctor had studied with doctor who discovered 22q and suspected that Abby had VCSF.
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• Genetic testing confirmed that she had 22q.
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• Syracuse specialist to do a series of tests
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• Pharyngeal flap speech
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• Scoliosis
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• Spinal fusion surgery at CHOP

• ⁠22q Center Children's Hospital of Philadelphia⁠

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