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RARE DISEASE DAY 2018

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Our lives were changed many times over the years because of a rare disease. First on Tuesday, April 22, 2003 at 12:29 p.m. and 12:30 p.m., our beautiful twins were born. Second on Friday, July 3, 2009, Ian had an episode which cased him to lose all his gross and fine motor functions. Third, in April of 2010, we traveled to Utah to see a specialists and learned that whatever was causing Ian’s regression was a rare motor neuron/neurogenetic disease 
which was progressive, non-treatable and terminal. Fourth, in March of 2012, the four of us, my husband, Brian; my daughter, Becca; myself, and my son, Ian had blood drawn for genetic testing (Whole Exome Sequencing). Fifth on, Monday, July 2, 2012, our genetic counselor called to tell us Ian had a mutation of the VRK1 gene, also known as Pontocerebellar Hypoplasia with Spinal Muscular Atrophy or PCH1A. 
At that time, according to records the doctors could find, Ian was the 4th documented case. Sixth, December 2012, Ian ended up in the hospita…