COVID-19 Restrictions Buy Society Time, but this Rare Disease Patient’s is Running Out

As reported in Vox, Amber Freed set into to motion when she learned her son Maxwell’s genetic disorder made him just the 34th in the world to be diagnosed with the disease. While Riley, Maxwell’s twin, was born healthy, Maxwell’s disease, SLC6A1, was severe, causing him movement difficulty and robbing him of speech. Doctors expected him to progress into debilitating epilepsy without treatment. Though they were told there was no treatment, Amber had hope that with her own dedication, there could be.
She describes her reaction when the family learned about the diagnosis:
“Every instinct in my body said ‘You’ll have your whole lifetime to cry for yourself. At this exact moment, you put your feelings and sadness aside. This isn’t about you. This is about Maxwell. And you fight like the third monkey on the loading deck to Noah’s Ark, and it’s starting to rain.’”
Amber’s Efforts
 Amber would not take no for an answer, so in lieu of an existing research effort, she took to the books. She learned each step of advocacy. She taught herself microbiology to comprehensively understand what was malfunctioning in her son’s body. She fund-raised over a million dollars towards research.
She then found professionals to take on the research project. With ultra-rare diseases, there is rarely any headwind on research because of the difficult and costly nature, as well as lack of interest. For these diseases to get attention, there often needs to be a specific parents or family with resources and ability to pull together a project. She lobbied for scientists and with researchers in China she had mice engineered with the exact mutation to be used as test subjects in the lab.
Coronavirus and Lost Time

Amber’s goal was pressing, but she was progressing. The trials on the engineered mice were designed and about to be set into motion. This was the beginning of 2020 though and a momentous shift took place in the world over these months. In the process of a worldwide set of shut downs due to safety concerns over the coronavirus, most medical research that was not seeking a treatment or vaccine for the pandemic has been suspended.  

While restrictions buy time for pandemic treatment to develop, it’s costing Amber, who doesn’t have any to spare. Her son’s disease will progress as time goes on.

  “I never anticipated or thought something like this could happen, but also it was a state of devastation like I felt when Maxwell was originally diagnosed that lightning hit us. The unthinkable happened. And here, lightning has hit again. A black swan event for the world that no one could have anticipated.” – Amber

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