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PCDH19 mutation

Geplaatst: 28 jan 2021, 15:35
door Malgorzata
Hello Everyone:)
A few months ago, our daughter was taken to hospital for seizures...
Yesterday, in a conversation with a geneticist, we learned about a mutation in our daughter. I would love to make contact with the parents of girls with a similar problem, at this point I am terrified of the diagnosis...

Re: PCDH19 mutation

Geplaatst: 14 jul 2022, 22:09
door Heidi2406
Beste,

Ik ben mama van 2 dochters met het PCDH19 gen mutatie. Mijn jongste dochter (9jaar) is sinds haar 5e verjaardag aanval-vrij en doet het zeer goed op school. Mijn oudste dochter (bijna 11 jaar) doet zeer geregeld aanvallen (minder zwaar dan vroeger) en heeft een mentale beperking, taalstoornis en autisme.
Hoe oud is uw dochter? Wat zijn haar symptomen?

Best,

I am a mother of 2 daughters with the PCDH19 gene mutation. My youngest daughter (9 years old) has been seizure free since her 5th birthday and is doing very well in school. My oldest daughter (almost 11 years old) regularly attacks (less severe than before) and has a mental disability, language disorder and autism.
How old is your daughter? What are her symptoms?