The dreaded day we received the news that Maxwell was diagnosed with SLC6A1 was the worst day of my life. Mark and I sat at Children’s Hospital and listened to a never-ending list of things Maxwell would probably never do. I wanted to cover my ears and sing so I couldn’t hear the doctor’s words. The hope that every parent has for their children slowly trickled away. The dreams I had for Maxwell felt like they were slipping through my fingertips and I was totally helpless.
The most unsettling realization was that if anyone was going to help Maxwell, we had to do it by ourselves entirely.
Rare diseases fall into the bucket, “Too Rare to Care” for government and industry funding.
A limited amount of funding for rare diseases like SLC6A1 is available from the National Institute of Health (NIH), which funds a large share of the basic biomedical research in the United States. What funding is available is divided among 7,000 or so rare diseases — then subdivided among a disease’s subtypes. That ever-smaller pot leaves families like us with the task of raising awareness, advocating research, and funding potential therapies ourselves. Our scientist, Steven Gray, PhD, has said, “In these cases, advocacy almost plays a stronger role than the science does.” The statistics are staggering. Around 50% of rare diseases affect children and 30% of children diagnosed with a rare disease will not live to see their 5th birthday.
Bloomberg recently featured Maxwell’s story in an article, “Some Patients’ Best Hope for a Cure is to Develop it Themselves.” In our situation, the only choice I was given was to spend countless hours becoming an expert in SLC6A1 and to spearhead the treatment myself. Maxwell doesn’t have time to wait for traditional science to develop a treatment on its own. We were left to bypass the pharmaceutical industry entirely and fund the research ourselves. Gene therapy is the hope for children with SLC6A1 and I am fully focused on progressing a Phase 1 clinical trial as quickly as possible.
I would never use “luck” and “rare disease” in the same sentence, however, SLC6A1 does have a silver lining. Our prevalence is much greater than originally thought. The disease is newly discovered and intuitively, you can’t be diagnosed with a disease that does not exist. SLC6A1 was added onto genetic testing panels around the time of Maxwell and Riley’s birth. Prior to that time, there was not a way to be diagnosed with the disease. With all of the light SLC6A1 Connect has shed on the disease, we now know that SLC6A1 is not as rare as we thought. The disease is the 10th cause of autism, 6th cause of epilepsy and plays a major role in many psychiatric disorders.
One thing is for certain. God has a plan for Maxwell and he was put on this Earth for a reason. In his short two years of life, he has already profoundly impacted many lives and will impact so many more. I am so blessed to be this little joy’s mother. Maxwell and Riley put life into perspective for Mark and I in the absolute best of ways, and I am determined that we will achieve our goal, not only to improve Maxwell’s life, but the lives of all other children with SLC6A1.
The Bloomberg article can be found Here.