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Rare Disease Parents Must Fight Hard for a Miracle

Photos: Courtesy of Brad Livengood

What is the best moment of your life so far? For me, it was meeting my twins Maxwell and Riley when they were born in March 2017. Until then, I didn’t realize a human heart was capable of that much love. Their health and happiness became my life’s focus but I had no idea how hard I’d have to fight on Maxwell’s behalf.

When Maxwell was 4 months old, we noticed he wasn’t developing at the same pace as his sister. He showed intent, but couldn’t use his hands and would barely move. This otherwise happy boy showed little interest in grasping toys or exploring the world around him. 

Well-meaning friends and family assured us that children develop at their own pace, but my intuition as a mother told me a different story. I was suffocated with fear that something was terribly wrong.


Fear turned to panic in June 2018 when doctors led us to a cold diagnosis room at Children’s Hospital and our worst fears were confirmed. Genetic tests revealed Maxwell had a rare neurological disease, with only 34 confirmed cases in the world. It was called SLC6A1 and there was very little known about the condition, except that it causes developmental delay, a movement disorder, and speech ataxia, and that it progresses into a debilitating form of epilepsy that is refractory to existing drugs. 

All we were given was a five-page scientific article and a list of things Maxwell would probably never do. It was the worst day of our lives.

I couldn’t accept this nightmare for my son. I left my career in finance to determine the best path forward, starting with cold-calling 200 scientists across the globe in three months. I used UberEats to send snacks to researchers who wouldn’t return my calls, hoping to compel them to reach out. I began attending conferences and meeting with officials from the National Institutes of Health, the U.S. Food and Drug Administration, and other government agencies. 

Through perseverance and determination, I found a path toward a solution.

Developing treatment

Maxwell’s disease is due to one half of a gene not functioning correctly. The technology to restore part or all of his neurological function exists in the form of gene replacement therapy, a once-and-done solution where a good copy of the gene replaces the bad copy. 

A group of scientists at the University of Texas Southwestern in Dallas was willing to develop and test the therapy that would help Maxwell and every other child with this condition. The research would also help advance treatments in epilepsy, autism, and schizophrenia. 

My journey to help Maxwell has transcended my little family and we have the opportunity to impact many, but the reality isn’t so simple.

When it comes to funding, rare diseases are often termed “too rare to care.” Government and industry funding flows toward diseases with bigger patient groups, even when a cure is lightyears away. 

As a result, the biggest challenge faced by rare disease patient organizations, such as SLC6A1 Connect, is advocating research and raising the funds to develop potential therapies ourselves. In many cases, like Maxwell’s, we’re up against a ticking clock. Around 30 percent of children with a rare disease won’t live to see their fifth birthday.

Like other parents in my position, I am fighting for a miracle. I take solace in knowing the journey to a solution is underway and that all the hard work was worth it. Not only for Maxwell but for all the children like him. 

I can only hope this path will be easier for rare disease parents in the future.

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