By KEVIN CHIRI
Tammany news bureau
MANDEVILLE – Amber Olsen appears surprisingly calm as she tells the story of her attempts to beat the clock to find a cure for Multiple Sulfatase Deficiency (MSD), a rare gene disorder that has the clock ticking on the life of her 4-year-old daughter Willow.
But that’s only because she has told the story so many times, always with a focus of hoping others will help her achieve the goal that could save her daughter or other children. Her own emotions, she said, have to remain on hold as best she can.
Olsen and her husband Tom have three daughters, but after Willow was the final child born she began to show signs that something wasn’t quite right.
“She was a healthy 8-pound baby when she was born,” Amber said. “But after a year things all seemed to be happening slowly for her—she didn’t walk until she was 18 months old and she wasn’t talking at all.”
It took almost three years to realize the MSD diagnosis meant her brain would eventually stop functioning by the age of five, all unless research into gene therapy could confirm what scientists thought was a possible cure.
Amber and Tom have now spent the past year trying to get a cure on the fast track with the Food and Drug Administration (FDA), but it costs big money—as much as $300,000—to get approval for a new treatment. And that is what Amber is spending most of her life trying to accomplish in the hopes of saving her little girl.
The couple formed a non-profit known as the United MSD Foundation and began raising money, while Amber’s Red Water Staffing business is also contributing most of its proceeds to the effort. And in the end, Amber said “I’ll empty out my retirement money if that can save Willow.”
She has told the story to so many organizations and corporations that she relates the potentially tragic future of her 4-year-old daughter in a mostly calm way. But then, as it does too often, the reality of Willow’s future hits her and a mother’s true emotions show.
“We hate every second of this,” she said, suddenly allowing the tears to fall. “I don’t want to see any other parent have to go through what we’ve gone through so that’s why we have to find a cure.”
The question is whether it will come in time for Willow, something Amber admits is a longshot at best.
MSD is a disease that is so rare that only one child in the United States is born with it every four to five years. That is because it requires both parents to be carriers of the faulty gene.
The disease leads to cells being unable to cleanse themselves of waste, eventually leading to the brain slowly shutting down. Children live with extensive pain and eventually lose the ability to walk and eat, and go blind before dying.
However, Amber quickly discovered there has been research which suggested gene replacement therapy could provide a cure. However, due to the rare aspect of MSD there has been very little funding provided to advance the research. That is where she and her husband made the decision to push the research forward, even if it meant the help for Willow would come too late.
Amber said that when Willow began having a lot of ear infections and still wasn’t talking by 18 months of age they went to multiple doctors who tried tubes in her ears, taking out her adenoids and speech therapy.
“Nothing worked and we still were not believing it was anything too serious,” she said. “It’s amazing how parents and family don’t want to think the worst. Most everyone kept saying there was a good reason for what she was experiencing.”
But a visit to a pediatric neurologist in May of 2016 led to gene panel testing, confirming the diagnosis of the rare disease.
Since Tom and Amber formed the United MSD Foundation they are pressing research and the efforts to find a cure as hard as they can. They have raised over $120,000 so far and are very optimistic their work can bring about a cure for all the children who would be diagnosed with the disease in the future.
“I have probably talked to 150 doctors about this since we found out what she had,” Amber said. “I’ve talked to parents in other countries who have children with the disease.”
Currently, researchers are close to doing a clinical test with mice, something that will take close to $200,000 to get done by the Oct., 2017 deadline—the time at which she needs that total of money. Should they make that—and one previous test on a mouse proved successful—they will take the research to the FDA and seek approval. The process to get approval, and then create the gene therapy for someone with the disease, still takes months and Amber said she knows that a cure by late 2018 is still a challenge.
“It will be a miracle to find a cure in time to help Willow,” she said. “She has now stopped walking and crawling and every night when I go home and see her I just want to do anything I can to help her, or the other children who may get this.
“It has been exhausting, but Willow is my motivation to do all we can do for her, and any other children,” she added.
Tom is a 20-year retired Navy veteran who now takes care of Willow at home while Amber operates her Red Water Staffing business. If you would like to support the fundraising drive you can do so at gofundme/savewillownow.