We can all fondly remember some of the best moments of our life — a wedding, graduation, or the birth of a child. I will never forget the feeling of meeting my twins Maxwell Norman and Riley James for the first time on 27 March 2017, in the wee hours of the morning. I didn’t know a human heart was capable of that much love. At that moment, my entire life’s focus became my family. I no longer cared about my career, current events, or even a really bad haircut. I would give my life unconditionally to protect them. My prayer to God, that they grow up to be healthy, happy and fulfilled members of society with every opportunity life can provide.
At around four months of age, we noticed that Maxwell wasn't progressing in his development at the same pace as Riley. Maxwell showed intent but could not use his hands and could barely move. It was so strange to watch this happy little boy unable to grasp a toy with little-to-no interest in exploring the world around him. Well-meaning friends and family would tell us that boys are slower than girls and every child develops at their own pace. We were reassured that everything would be fine, but my mother’s intuition was telling me a much different story. Riley's milestones became bittersweet as it felt like Maxwell was slipping away in my arms. I was helpless, frantic and suffocating with fear that something was terribly wrong with our dear baby boy.
This fear turned to sheer panic as doctors searched desperately for answers along with us. In June of 2018, my husband and I were led to a cold, sterile diagnosis room at Children’s Hospital where doctors confirmed the unspeakable. My worst fears were confirmed. Mark and I sat before a group of doctors with solemn faces. Genetic testing revealed that Maxwell had a rare neurological genetic disease with only 34 confirmed cases in the world.
It didn’t come from Mark or me, it just spontaneously occurred. It was called SLC6A1 and there was very little known about the condition.
SLC6A1 is a rare neurological disease that causes developmental delay, a movement disorder, speech ataxia and progresses into a debilitating form of epilepsy that is refractory to existing drugs. Doctors could not give us more details other than that because there were so few patients, no patient registry or studies done of the natural history of disease. We were given a five-page article written by a group located in Denmark and told that the hospital would be interested as we learned more about the condition.
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 realisation was that if anyone was going to help Maxwell, we had to do it by ourselves entirely. We had to create our own miracle.
I was not about to accept this nightmare for my son. I left my promising career in finance and cold-called 200 scientists from across the world over the course of three months to decipher the best path forward. I survived on four hours of sleep, coffee, and cold pizza. I have sent snacks via Uber Eats to researchers that wouldn’t return my calls until they felt compelled to thank me for the gifts. I have attended conference after conference, met with officials from the National Institute of Health, the Federal Drug Administration, and other government agencies. Through perseverance, determination and a self-admitted (albeit small) amount of craziness, I found a path forward.
Maxwell’s disease is due to one half of a gene not functioning correctly. Current technology exists to cure this disease via gene replacement therapy which could restore part or all of his neurological function. Gene replacement isn’t a daily drug, it is a once and done solution where a good copy of the gene replaces the bad copy of the gene. A group of scientists at the University of Texas Southwestern in Dallas were willing to test and develop the therapy that would not only help Maxwell, but every child with this condition. This research will also directly advance treatments in epilepsy, autism, and schizophrenia. My journey to help Maxwell has transcended my little family and we have the opportunity to impact a multitude.
The patient organisation, SLC6A1 Connect, must raise $4,000,000 to complete a clinical trial. The non-profit has already raised $1,000,000 in just one year. We are in a race against time and our goal is to develop a treatment within the next 18 months. The opportunities I long for Maxwell to have are now within arm’s reach.
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 leading cause of autism, 6th leading cause of epilepsy and plays a major role in many psychiatric disorders.
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Rare Revolution Editor