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Moyamoya, 22q11.2 and Genetic Testing: Jody Tells her Story

Moyamoya, 22q11.2 and Genetic Testing: Jody Tells her Story

Released Saturday, 3rd September 2022
Good episode? Give it some love!
Moyamoya, 22q11.2 and Genetic Testing: Jody Tells her Story

Moyamoya, 22q11.2 and Genetic Testing: Jody Tells her Story

Moyamoya, 22q11.2 and Genetic Testing: Jody Tells her Story

Moyamoya, 22q11.2 and Genetic Testing: Jody Tells her Story

Saturday, 3rd September 2022
Good episode? Give it some love!
Rate Episode

One daughter was diagnosed with Moyamoya which led to the whole family getting genetically tested. Angelica was having mini strokes. As a mom, it was hard to convince doctors her 5-year-old was having mini strokes. There had to be a series of tests before the one test that confirmed Moyamoya. Mom says to trust your gut feeling don’t stop fighting. Don’t give up.

Trust your mother’s instinct. Nothing is wrong but something just isn’t right.

Second daughter, Marjorie,  has a genetic duplication, 22q11.2

Eye shape and hairline were indicators and additional genetic testing was suggested.

Later, there was an ADHD diagnosis along w a report with recommendations. However, getting her evaluated by the school, for services other than her current speech services was harder and longer than expected. Once Marjorie got more services, she became happier, less frustrated and reports from school and home are better.


advocacyforthespecialones.com

https://www.youtube.com/watch?v=QHSOse2hKwk


#moyamoya

#22q11.2


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