Think about debilitating rare diseases like ALS, muscular dystrophy, and epilepsy. Now imagine a world without them. There are nearly 6,000 rare diseases in existence and my passion is to imagine a world where they no longer exist.
I waited until my mid-30s to start a family so I would be established in my equity research career and able to enjoy motherhood to the fullest. My twin babies, Mr. Maxwell Norman and Ms. Riley James, were born in March of 2017, and I remember thinking life was perfect the day they came home from the hospital. They were and still are perfect in every way, and motherhood has exceeded every expectation.
At four months old, I noticed Maxwell wasn’t progressing at the same rate as Riley. Friends and family reassured me that I was simply a nervous new mother and kids progress at their own rate, but my gut said otherwise. Maxwell did not use his hands even though there wasn’t a visible physical limitation. He couldn’t bear weight, he couldn’t reach, and he never picked up a toy. Doctors began to prepare us for the worst as we entered the dark world known as the “diagnostic odyssey.” In early May of 2018, my husband and I were led to the calming parent room at Children’s Hospital where doctors met us with solemn faces. Maxwell was diagnosed with SLC6A1, a rare genetic disease that only affects 40 people worldwide. The disease doesn’t even have an official name other than the name of the gene. SLC6A1 causes developmental delay, intellectual disability, autism and a severe form of epilepsy. Doctors told us nothing could be done. Defeat would have been easy to accept in that moment, but we chose another path instead. I left my career to dedicate my life to improving patient outcomes, and I haven’t looked back.
Maxwell’s gene mutation renders half of the gene useless and prevents the most important inhibitory neurotransmitter in the body from flowing throughout the brain. The answer sounds simple – make the gene whole. Countless scientists, clinicians, and researchers have worked toward this solution for decades. Luckily for Maxwell, the time to employ the technology is now. Much like Napster transformed music, gene therapy is revolutionizing the medical field. The business model of medicine has always been based upon recurrent pharmaceutical sales, and gene therapy is a “once and done” solution. What does gene therapy mean to our family? Maxwell has the potential to have a functioning neurological system, never suffer from epilepsy and have a chance at life. Someday, this will be a distant memory for us.
Like any new technology, the cost is astronomical today but will decline as the process becomes more automated. However, Maxwell does not have the luxury of time, so the money needs to be raised now. I invite you to join our organization, hear our stories, and help us reach our goal.
CEO & Founder of SLC6A1 Connect