Pontocerebellar Hypoplasia
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Pontocerebellar Hypoplasia stories
My son had PCH1A, a mutation of the VRK1 gene.
Views: 364 Jul 10, 2017, 9:56 PM by Mlsbks0422
Our beautiful little girl was diagnosed when she was 4 months old when she became very sick and ended up in the hospital for a 2 week stay. She was diagnosed by MRI. We have yet to receive a genetic diagnosis. She is now almost a year old and she has...
Views: 323 Jul 11, 2017, 7:57 AM by Carlamoore22
Ben was diagnosed at the age of one and a half with PCH3 through MRI.
Ben's condition includes Optic Nerve Atrophy, Cortical Visual Impairment, Epilepsy, Microcephaly, Club Foot, etc. He was born in 2008 and is maintains a small stature (ap...
Views: 278 Aug 10, 2017, 5:03 PM by Benjamin Busque
It didn't take long after the wedding to find out we were pregnant ð¤°ð¼And expecting a little boy ð¶ð¼We couldn't be any more excited! The day finally arrived and labor and delivery was a breeze Luke came into this world on 7-...
Views: 271 Jul 10, 2017, 10:30 PM by Luke
We received Colton's genetic diagnosis via whole exome sequencing in September of 2015. He has PCH2 due to the TSEN54 mutation.
Views: 259 Jul 10, 2017, 9:28 PM by Colton Reynolds
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