Christina's interview
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How did all start?
My daughter was diagnosed with Microcephaly with Pontine and Cerebellar Hypoplasia due to a mutation on her CASK Gene when she was about a year old.
Do you already have a diagnosis? How long did it take you to get it?
Yes. From the time we noticed a delay in her development to the day she was diagnosed was about 6 months.
For what medical specialties have you been treated? What has been the most useful specialty for your?
My daughter has been seen by a variety of specialists, including a neurologist, opthalmologist, cranial surgeon, geneticist, and multiple therapists, among others. Her neurologist has definitely been the most helpful for treating her symptoms.
What has been the most useful thing for you so far?
Definitely the wheelchair. Her chair has lots of trunk support which allows her to sit up comfortably, which she is unable to do on her own.
