At HuffPost, Lauren Weber reports on how “fighter parents” like Amber Olsen (parents whose children have rare diseases) are getting scientists and profit-hungry pharmaceutical companies to do research, conduct clinical trials, and develop treatments for life-threatening, yet little-known ailments. How do they do it? With sheer determination and unrelenting superhuman efforts to raise money and awareness for their child’s cause.
Amber estimates that about 100 children in the world currently have MSD. The disease kills most of its victims before their tenth birthday and there is no known treatment ― at least, not yet.
As she watches her daughter head off to kindergarten, Amber thinks about the $2.6 million she needs to raise, the scientists she has to fund, the lobbying of Congress she must do ― all to make sure that a gene therapy to halt the disease’s progress will be created in a ridiculously short time.
If she fails, MSD will steal her daughter’s life, too.
Amber and Tom had known something was wrong with their surprise third baby ― she was slower to reach developmental milestones, had frequent ear infections and had never talked ― but the news of her diagnosis with MSD on May 9, 2016, seemed beyond comprehension.
One gene mutation plus one gene deletion means Willow’s body is unable to break down toxic materials, hindered by an enzyme deficiency that undermines this metabolic process. As Amber describes it, the “garbage man” present in most people’s cells never shows up to take out Willow’s trash. White matter builds up in the brain and cellular trash builds up throughout the rest of the body, inexorably suffocating the cells, destroying neurological and bodily functions, leaving MSD patients unable to walk or talk ― and eventually unable to swallow or breathe on their own.
When Willow was diagnosed, the doctors told her parents there was no treatment or cure for this fatal disease ― there was nothing at all they could do besides give their daughter palliative care as she slowly lost all of her faculties.
Amber knows she sounds like a broken record – but she has to say something or no one will.
“I find myself in between shock and horror and fighting back tears, like I can’t do this, I’m in over my head,” Amber said. “Why does this mother of a sick child have to worry about this? But if she doesn’t, who will?”
So she puts on her “Cure MSD” T-shirt, pastes on a smile, goes to Rotary Club meetings, high schools and community colleges ― all with Willow in tow ― and explains over and over and over again that without help, without a treatment, without something Willow will die.