Advancing research to develop treatments for KCNH1-related disorders
KCNH1 genetic disorders are rare neurological conditions that cause seizures, profound intellectual disability, severe movement and speech disorders, and various medical complications. Cure KCNH1 Foundation is a patient advocacy organization dedicated to raising awareness about KCNH1 genetic disorders and improving the lives of children and families by advancing research in the search for better treatment options and a cure.
My husband and I were thrilled to welcome our fourth and final boy to the world on November 26th, 2019. After a scary 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 unfazed 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. We were completely crushed and overwhelmed as we envisioned Tristan's future, and the loss of the life we had imagined for our son. I was angry at the unfairness of it all, and how one randomly-mutated incorrect nucleotide (out of 3.2 billion!) could change everything and keep us from ever getting to know who he would’ve been. I was heartbroken, and I wasn’t ready to accept this fate for him. Knowing that the technology exists for gene therapies, I wondered if we could somehow create one for Tristan. I started emailing researchers and doctors and rare-disease advocates 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: raised millions of dollars to fund the development of treatments for their kids. If it could be done, I was absolutely determined to do it for Tristan, so we started the foundation and are on a mission to find a cure for him and all the other KCNH1 kids.