Amber Freed and her husband Mark have been on a long, difficult journey to find a cure for their son Maxwell.
After his birth, Maxwell could not keep up with the normal child-development milestones of his twin sister, Riley.
Although well-meaning family and friends reassured the anxious parents that every child develops at their own pace, and one medical specialist after another could not explain why Maxwell experienced a delay in normal development, Amber had a gut feeling that something was seriously wrong.
In 2018, Maxwell finally received an accurate diagnosis to explain his bewildering symptoms.
The Diagnosis
After a battery of medical tests, doctors finally arrived at a diagnosis — Maxwell’s developmental delays were due to a rare genetic disease.
It is a genetic disease so rare that scientists have discovered less than 50 other cases in the world.
It is a genetic disease so rare that it didn’t even have a name and doctors simply refer to it by its genetic location: SLC6A1.
The Prognosis
SLC6A1 is a gene that affects the biggest inhibitory neurotransmitter in the human brain.
Doctors explained to Amber and Mark that the gene inhibited Maxwell’s brain neurons from firing properly. Each neuron was only transmitting half the necessary neuronal signals across the synapse, the gap between two nerve cells that messages must jump across.
The prognosis was alarming: the rare genetic disease would create lifelong developmental disabilities and movement disorders.
Maxwell’s developmental delays at age one were only the beginning. By three or four years of age, he would have a debilitating form of epilepsy. Extreme seizures would further regress his cognitive growth.
No Known Cure
Maxwell’s empathetic doctors could not propose a treatment plan for the boy because there was nothing the medical profession could do to stop the progression of the disease. The disease did not have a cure.
Although accepting the accuracy of the diagnosis because multiple medical tests confirmed it, Amber refused to resign herself to the idea that there was nothing medical science could do for Maxwell.
A Mother’s Crusade
According to a CNBC story by Jodi Gralnick and Meg Tirrell about Amber Freed’s story, Amber quit her work at Janus Henderson as a financial analyst and “decided to fight like a mother.”
She worked 80-hour weeks, learned as much as possible about her son’s rare genetic disease, and communicated with 140 scientists over the course of three months.
Finding the Right Person
When Amber found Dr. Steven Gray, who works at the University of Texas Southwestern Medical Center in Dallas, she finally reached someone with the knowledge and experience to help her son. She showed up at a conference where he was speaking and told him about Maxwell’s plight.
Gray has proposed a viable plan to treat Maxwell:
Use gene replacement therapy to replace the mutated SLC6A1 gene. This would end the neurological inhibition. In its current state, the gene only allowed half of the neuronal signals to send messages across neural networks. By replacing the mutated gene with a working copy, it would effectively open up full strength neuronal signaling.
Scientists could use a harmless virus called AAV9 to make the switch. The virus would transport the new gene through the spinal fluid into the brain. The gene knew how to bypass the blood-brain barrier and how to attach itself to the malfunctioning SLC6A1. Once the virus stacked the new, high-functioning gene over the old, low-functioning gene, it would unplug the neuronal inhibition and neural pathways would now work as nature intended.
An article by Buzzfeed news reporter Dan Vergano details the starring role viruses play in genetic engineering: “Viruses reproduce by infecting cells and hijacking their DNA machinery to reproduce their own genes, making more viruses. The gene therapy virus, in turn, leaves behind a corrected gene in the DNA of cells they infect. Injected into the spinal cord, Gray’s virus can travel straight to the brain, leaving behind the corrected gene after the virus has run its course.”
Doctors only have to do this medical process once because the working gene would replicate into new cells. A patient would experience a complete return to normal life.
Funding Research for a Cure
Although scientists now know enough about genetics to develop a cure, a lack of funding limits their research. Initially, researchers need a million dollars to begin the research. Then they will need 4 to 7 million dollars to advance clinical trials.
To date, Amber has created a GoFundMe project and received nearly $800,000 from more than 2,000 donors toward her goal of raising $1,000,000.
A Race Against Time
A cure is within reach, but a lack of research funding has held back progress. Amber is racing against the clock because once Maxwell turns three or four, the disease will develop into a severe form of epilepsy that will cause cognitive decline.
Meanwhile, Amber is hard at work to raise enough money through her fund-raising drive and Maxwell goes to a dozen therapy sessions a week to mitigate the symptoms of his disease.
Even if it is too late for Maxwell, Amber and Mark tell reporters covering their story, a cure will one day be available for other families whose child has this rare genetic disease.
