The story of Marci
My son, Ian, was diagnosed with PCH1A caused by a mutation of the VRK1 gene. After years of regression, tests, doctors appointments, hospital stays, really just watching his body turn against him, he was finally diagnosed. We knew getting a diagnosis would not change the prognosis for him but it would change things for others. Just knowing about the disease, helped our family to accept where we were headed. What we did not expect was for this to be so rare, to our knowledge he is one of 7 in the world. Just like other rare diseases, PCH1A is terminal. There is no cure, no treatment…we just treated the symptoms and hoped to keep him as happy and comfortable as possible. As Ian’s mom, I know we did everything we could to make him happy, comfortable, smiling and laughing until he could not do it any more. On September 15, 2016, Ian took his last breath, leaving us with many happy, joyful memories. Since his death, his father, sister and I have done everything we can to raise awareness for rare diseases, especially PCH1A. We are out here, looking for others to help not feel isolated and alone…to know that there are others around makes a huge difference. To see our journey, check out my blog:Â Treasure Yesterday Dream of Tomorrow Live for Today.
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