Treatments for Tristan

*****UPDATE: We have received our 501(c)(3) nonprofit approval from the IRS!  Please visit our foundation website if you would like to make a tax-deductible donation: https://www.curekcnh1.org/ *****

***You can now follow Tristan's story on Instagram @Treatments4Tristan , or Facebook, Cure KCNH1 Foundation!***

Kevin and I were thrilled to welcome Tristan, 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 Kevin if he thought Tristan was okay because something about his eyes didn't look quite right; Kevin 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, though, 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 long 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 gave us the verdict: KCNH1 gene mutation, Zimmerman Laband Syndrome, characterized by profound intellectual disability and severe epilepsy. This was the first case the geneticist had ever seen (there are only about 50 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 of course 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.

 

 

When we first got the diagnosis and started learning about the severity of the disorder, we were in complete disbelief and thought Tristan must have a milder case, since he hadn’t had any seizures and didn’t appear to be as severely affected as the cases we were seeing online; but in getting to know the other families affected by KCNH1, we realized that many of their kids had a similar developmental level as Tristan at his age, and that many aspects of the disorder progress as the children get older, while development slows drastically. Then, about a month after we got the diagnosis, Tristan had his first seizure and it was by far the most terrifying and traumatizing thing I’ve ever experienced. He went completely stiff, started foaming at the mouth, and stopped breathing for what seemed like an eternity as his face turned blue. He’s since had two more seizures, and each time it takes weeks for him to recover and get back to himself. The fear of seizures hangs over us every day and drastically affects our lives, since the thing that triggers his seizures is sickness; Tristan absolutely loves people and going places, but we hardly take him anywhere since even the most minor cold could land him in the hospital.

 

 

As we started to come to terms with the severity of the prognosis, we were completely crushed and overwhelmed as we envisioned Tristan's future, and the loss of the life we had imagined for our little boy. 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 learned that there are currently only a few gene therapies on the market, but many more in the pipeline…but of course the ones being developed by the pharmaceutical industry are for the most common disorders. As far as traditional drug development companies are concerned, KCNH1 is “too rare to care.” However, I started emailing researchers and doctors and rare-disease advocates all over the world, and gradually began to learn that my idea 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 are starting a KCNH1 patient-advocacy organization and are on a mission to find a cure for him and all the other KCNH1 kids. We’re extremely lucky that KCNH1 is thought to be an excellent candidate for a particular type of gene-expression therapy known as antisense oligonucleotides (ASO), and our scientific team thinks we could have a treatment developed within a year, but it’s incredibly expensive to do this type of drug development. We need to raise $1 million over the next year to fund the necessary research to develop life-changing treatments for Tristan and the other kids. We had hoped to launch our KCNH1 foundation months ago, but unfortunately the IRS is back-logged due to covid and hasn’t processed our application yet. Every day that goes by causes additional damage to Tristan’s developing brain and body, so we decided to start with a GoFundMe campaign while waiting for our foundation’s 501(c)(3) non-profit status. We’ll be launching our non-profit website and donation platform as soon as we're approved by the IRS, so please spread the word to any family/friends/colleagues who may be interested in a tax-deductible donation that can completely change the life of Tristan and other severely disabled kids. Thank you so much for joining in our fight for a better future, where one incorrect nucleotide doesn’t have to define Tristan’s entire life!