RARE Revolution had the pleasure of speaking with Justin West, an Orange County surgeon, husband, and father of three. Justin’s youngest, his five-year old son Andrew, was diagnosed with KCNT1-related epilepsy—an ultra-rare, infant-onset seizure disorder—at just six months old. After being told by medical professionals that there were no treatment pathways available for Andrew’s condition and very limited lab research being untaken, Justin made it his mission to engage the healthcare community to help accelerate the discovery of a disease-modifying treatment. Justin’s journey has come a long way, and he is now one of the three founders of the KCNT1 Epilepsy Foundation. Justin speaks with us about his journey to diagnosis with Andrew and the amazing work of the foundation. He candidly explains his persistence in supporting clinical efforts despite knowing it’s likely therapeutics will not be available in time to help his son

By Charlotte Cooper

The journey to an ultra-rare diagnosis

When Andrew was born, Justin and his physician wife, Lisa, had no health concerns about their child, who appeared as any happy, healthy baby would. However, this changed when Andrew was just three months old. “I got a text from Lisa while I was at work, asking me to take a look at a video she sent of Andrew. I didn’t understand what I was meant to be looking for exactly; I could just see very subtle movements in Andrew’s foot,” Justin explains. Lisa took to social media and posted the video in a physician’s Facebook group. Members of the group were quick to respond and encouraged her to seek immediate medical attention. 

“After arriving at the hospital, Andrew was given a standard first-time seizure workup. They ran all the lab tests, and everything came back as normal. They explained that it could have been caused by a fever or infection,” Justin explains. The couple were given a follow-up appointment with an epilepsy specialist, just for peace of mind. Sadly, there was no such peace, and Andrew over the ensuing weeks began to develop more prominent seizure signs. Despite Andrew’s worsening symptoms, Justin and Lisa were told that although there may be a very focal area of malformation, Andrew was going to grow up to be a “very normal kid”.

“The months following our first consultation were turbulent. The seizures went from being subtle movements to more dramatic arm posturing, and Andrew ended up being admitted to hospital. We probably spent about 100 days of the first year of his life in various hospitals in Southern California, gathering multiple opinions from different specialists. During which time, the seizures continued to get worse.”

Now having an average of 50 seizures a day, Andrew was trialled on various medical interventions, but nothing worked. Medical professionals were at a loss, and they sent Andrew home, asking Justin to let them know if anything changed. “I thought, how is it acceptable to send us home when he is having this many seizures a day? We kept being told, it’s not genetic, there is nothing going on here, we are not going to gene panel test him. I didn’t understand.”

Eventually, when Andrew was six months old, a doctor agreed to send Andrew for a gene panel test to rule out a genetic cause. “The doctor told us that there was a 98% chance the test wouldn’t show anything because Andrew looked ‘too normal’.” After a considerable wait for the results, finally an epileptologist called: “I answered the phone and they told me that it was good news and that they had a diagnosis,” Justin explains, “the epileptologist then rattled off these letters, which at the time, meant nothing to me. My first question was what treatment is there available? And that’s when they told me that there is no treatment, and very limited research being done. So I replied, ‘how is that good news?’

Post-diagnosis and becoming a founding member of the KCNT1 Epilepsy Foundation

“When researching Andrew’s condition, every article I read started with ‘this is a devastating diagnosis’. It was soul crushing.”

After months of going back and forth to various hospitals to no avail, Justin and Lisa made the decision to take care of Andrew at home as much as possible and give him the best quality of life they could: “We read that one in five children with Andrew’s condition die before they reach five years old, and so we started preparing ourselves.”

At this point, Justin felt they had already started to lose Andrew in other ways: “We watched him disappear. I mean, you can see it from month to month in his photos, which go from him having strong eye contract and looking at the camera to being completely absent. His brain just hasn’t developed.”

After two years of keeping Andrew as comfortable as they could, Justin and his wife decided they were not ready to give up, and they began to hunt for articles and any information they could. “I kick-started my journey of being a physician–dad, reaching out to people and connecting through LinkedIn to find other physicians, researchers, drug discovery programmes… just anybody and everybody in the epilepsy space,” Justin explains. 

At this point, Justin connected with Seth Greenblott, whose daughter also had a diagnosis of KCNT1-related epilepsy. Seth explained to Justin that he had been advised to start a foundation, as this was the best way to get a seat at the table and attract researchers, so Justin and Seth decided to collaborate to build upon and shape Seth’s newly established foundation. The foundation then met with Genetic Alliance and Biogen to discuss how a patient registry could help support drug development efforts. 

Soon after, the pair invited their third and final founding member, Samantha MacMechan, whose daughter is diagnosed with migrating partial epilepsy of infancy (MPRI). Now a dynamic team of three, the founders have transformed the KCNT1 Epilepsy Foundation into a successful, registered foundation with a science advisory board and a host of innovative initiatives. 

The KCNT1 Epilepsy Foundation’s patient registry

“We are lucky in that, for such an ultra-rare group, we have an active community and a surprisingly high number of people that are trying to find answers.”

“One of the biggest parts of the foundation is that it has a pretty robust patient registry,” Justin explains. “There are about 260 cases worldwide, and our registry has around 150 of those patients so far, which is over half.” Justin shares that they also have a contact database for patients, an ongoing natural history study and a partnership with Invitae for patient-entered data. The Invitae programme pools data from patients to create a digital natural history study, and Justin has high hopes that these data can be used to support INDs (investigational new drug applications) with the FDA and accelerate treatments and cures for KCNT1. “The hope is also that from a practical point of view, parents will get insights that can help them with managing their own child’s epilepsy, by virtue of this communal pool of data,” Justin explains. “Parents can also give portal access to their physicians so that they learn more about their patient and the wider affected community.”

Justin is passionate about the benefits of data sharing, collaboration and networking in the rare disease space and wants to prevent, as much as possible, researchers working in silos: “I feel it is a major loss to our community and to other rare communities alike when there is no collaboration. We could all benefit from much more transparency and better communication.” 

Justin’s motivation to keep advocating for research and support clinical efforts

“We have a spectrum of things that may become available within the next six months and the next six years,” Justin shares. “We hope that year after year we have new treatments that are better, and that over time perhaps a cure may be found,” Justin explains. “Unfortunately, Andrew is at an age where our window may be closing, and we may not benefit from any of that work. It is something you have to accept as a parent doing this.”

“I put hours a day into this work, knowing full well than none of this may translate into change for Andrew, but if it helps the future generation of parents to not have to deal with the pain, suffering and indignity of having this diagnosis, then that is something that we can do in Andrew’s memory, to honour him.”

Justin also says that his two other children are a huge part of his motivation: “A lot of what I do is so I can be a role model for them, because I want them to be able to look back and say that we did everything we could for Andrew—that’s a huge driver for us.”

A note from RARE Revolution

It was an absolute pleasure speaking with Justin and it is an honour to share his story. His commitment to finding new treatment pathways for the KCNT1-related epilepsy community, despite knowing there is a high probability these therapeutics will not be available quickly enough to help his son, is incredibly moving. We look forward to watching the KCNT1 Epilepsy Foundation flourish further, and we wish the very best for the founding team and their families.

The KCNT1 Epilepsy Foundation

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