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Our Story

My husband and I were thrilled to welcome our fourth and final boy to the world on November 26th, 2019.  After a terrifying delivery, everything seemed to be stable, but once all the doctors and nurses had left the room I asked my husband if he thought Tristan was okay because something about his eyes didn't look quite right; my husband agreed, but nobody at the hospital mentioned anything so we didn't think too much more of it.  When Tristan was about four months old, however, we started having concerns about his development since he wasn't reaching for things or bearing weight on his legs like his brothers had.  By five months it was clear that he had some developmental delays, but we got him into physical and occupational therapy and hoped that he could "catch up" with early intervention, as many children do.  We started the lengthy process of seeking a diagnosis, never imagining how severe it could be since he wasn't that far behind physically.  Tristan was 15 months old when we finally got the genetic test results back, and it was absolutely shattering.  The geneticist seemed completely un-phased and uncaring as he delivered the verdict: KCNH1 gene mutation, characterized by profound intellectual disability and severe epilepsy.  This was the first case he had ever seen (there are only 50-100 known in the world) so he didn't have any information for us other than an article he had printed out; he told us "You'll go on Facebook, you'll find a group, and you'll learn more than I'll ever know."  Basically, "You're on your own here."  As soon as we left the office, I started looking up everything I could find about KCNH1, and the more I learned the more devastating it was.  Most of the kids with these mutations don't progress beyond the developmental level of a toddler, and need constant supervision for life and assistance with every aspect of daily life.  They can't self-feed or potty-train, and it completely broke my heart to learn that the majority are non-verbal and I might never be able to have a conversation with my sweet boy.  The KCNH1 kids also suffer from hard-to-control epilepsy, gum issues that require repeated surgeries, all kinds of GI problems, and sleep disturbance.  On the more severe end of the spectrum, many are wheelchair-bound and dependent on feeding tubes, and tragically some have died from seizures and other complications.  I was completely overwhelmed as I envisioned Tristan's future, and the loss of the life I had imagined for my son.  Knowing that the technology exists for gene therapies, however, I was not ready to accept this fate.  I started emailing researchers all over the world, and gradually began to learn that this was not a complete pipe-dream, there were actually families who had done this.  If it could be done, I was absolutely determined to do it, so we started the foundation and are on a mission to find a cure for Tristan and all the other KCNH1 kids.


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