A Mother's Race to Find a Treatment for Her Daughter's Ultra-Rare Condition
When Amber Olsen’s daughter Willow was diagnosed in 2016 with an ultra-rare lysosomal storage disorder known as multiple sulfatase deficiency, the diagnosis was grim. There is no treatment for the disease and most children with the condition don’t live past the age of 10. Unlike other lysosomal storage disorders that have been treated with enzyme replacement therapies, MSD involves a lack of multiple enzymes. It also includes significant central nervous system involvement that makes delivery of therapies that much more challenging. We spoke to Olsen about MSD, the United MSD Foundation she founded to drive research toward treatments, and how she enlisted one researcher to pursue a potential gene therapy.
Former Licensed Massage Therapist/retired, Ehlers Danlos Syndrome Advocate
7 年Contact Genzyme, they manufacture some enzyme replacement therapies. They may be able to help get u contacts.I havent looked up this condition yet, but pls dont be insulted by any ideas. I am a parent who stays up late every night looking for answers, too. Our answers ended up being Fabry and EDS plus its accompanying conditions. So, u mentioned this condition involves multiple enzymes. So couldnt we target at least the ones that are known, that we DO have ERT for and see if they help, even a little? Also, has she been tested for some of these other LSD's? My thinking is based on our daughter, & some.others. some of their diagnoses have treatments and some don't. But we treated every possible thing we could and she went from near bedrest in hischool to attending university several hours away. Its very tough, and some days we wonder if she is doing way too much, but. Back to the theory, test her for what Can be trested. Try the treatments just to see if they will help, even a little. Its better than doing nothing. Look me.up on FB, I am there all the time. LOL, If you ant to, sorry. Linn Ash, Bucyrus Ohio Admin of Closed Ehlers Danlos Syndrome Group
A person who is training to be the best advocate for the disable and nursing home residents
7 年When i see these cases it really sad because unless someone like this take it up most likely there not much can be done.