We were fortunate enough to know within days of Dax being born, that he had Pontocerebellar Hypoplasia (PCH), but it all depended on the genetic results to diagnose his type. There have been approximately 115 cases world-wide with PCH and there are a handful of genes that are “commonly” seen as a reason for PCH. There are 13 different types of PCH and within those types there are subtypes. After 8 weeks – we FINALLY know the details of Dax’s diagnosis. He has been diagnosed with PCH Type 8 which is specific to a CHMP1A gene mutation. It has only been seen in 6 people in the world, to date. Within this group of individuals Dax is the only person that has deletions in that gene as most mutations consist of a “typo” within the gene coding. The chances of this happening are literally less than one in a million. So rare that researchers have already reached out to our medical staff to inquire about adding it to medical literature as the first case found in humans. As we’ve searched for answers, we’ve learned that NO child can be compared, and each have their own individual journey.
Our next step will be DNA testing to confirm that it’s autosomal recessive. There’s always that chance it could be a spontaneous act of nature (de novo). We’re grateful for technology, we can pass this information on to the next generation in our family, and families across the world that find themselves in similar shoes. We’re grateful for the team of doctors that have worked endlessly to provide us answers. And most importantly, we’re grateful for Dax, he’s put everything into perspective on what matters most. We now find joy in the simplest things and we don’t stress about the small stuff. Dax’s diagnosis can’t be changed or cured. The doctors have recommended that we stay cautiously optimistic. But, we find peace knowing that he’s in control of his journey. When he’s ready to be healed, and ready to run and play up above, he’ll let us know.
The little guy turned 2 months old last week and it’s amazing how strong and healthy he is. He’s definitely living up to his name.
The Story of Dax Wilder 