I had the chance to chat with Amber Olsen, the founder of The United MSD Foundation, and mother to Willow. This is their story.
Willow had been a seemingly healthy baby. She was a normal birth weight and, though she developed a little slower than her two older siblings had, she still learned to roll over, crawl, walk, and run. The only thing that truly stood out to her mother was that Willow never spoke. Then, at about 18 months, Willow began to have some balance issues. She was still able to walk and run but would frequently stumble and fall.
Willow’s pediatrician referred her to a neurologist.
When Amber told the neurologist how Willow was regressing, he immediately ordered a genetic panel. MSD was not on the panel, nor were other lysosomal storage diseases, but he found a deletion that Willow had inherited from her parents. Willow’s doctor had never seen a patient with MSD.
“Most doctors have never heard of it.”- Amber
Most people who have a lysosomal storage disorder are deficient in one enzyme. People with the LSD Multiple Sulfatase Deficiency are deficient in seventeen. Six of those are in the lysosome. Amber says it is as if her daughter has six lysosomal storage disorders at once.
She describes the disorder as being very similar in its presentation to the late infantile form of Metachromatic leukodystrophy (MLD, also called arylsulfatase A deficiency). MSD has a spectrum of severity; patients with the neonatal form often don’t live past one year of age, those who have the late infantile form, like her daughter, tend to lose skills between ages three and five and don’t live past ten. Those with the late juvenile form are developmentally delayed and are often misdiagnosed with autism. Their correct diagnosis typically isn’t found until they develop balance issues between the ages of six and ten.
There are no FDA approved treatments for MSD. Once there are, families and advocates will work to get MSD on newborn screening panels. For now, many are diagnosed through a test for one of the six overlapping conditions with a secondary confirmation test. Willow wasn’t diagnosed as an infant because no LSDs were on the newborn screening panel for her state when she was born.
When Willow did receive her diagnosis, her family was told that it was a very rare condition and they were referred to a metabolic geneticist. They looked it up online and remember reading that there were only fifty known cases in the world and that most children didn’t survive past age five.
Amber’s only real familiarity with serious childhood conditions was cancer. She had the expectation that her daughter would receive a treatment, maybe one that would be rough, like chemo, but something that would help combat the condition and lead to improvement.
At the appointment with the metabolic geneticist, they were told that there was nothing to be done for Willow. Even the geneticist had only seen one other patient with MSD. That patient sadly had not lived very long, and Amber was told her family’s job was to take care of Willow until she passed.
After that difficult day the family researched everything they could. They found another MSD family in Ireland and communicated with them. Amber mentioned MSD in her business group and a colleague mentioned another family with a child with MSD. Amber got in touch with them and found that sadly, that family’s child had recently passed away. The connections Amber made included some painful conversations, but they educated and empowered those on both sides of the conversation.
Determined to learn even more, Amber and her family flew to Europe to attend a conference for physicians two months after Willow was diagnosed. They were able to meet with some of the few experts and researchers and discuss options. In some ways, Amber considers the MSD community fortunate; the genetic mutations have already been identified and some experiments with gene therapy had already been done in mice. Regardless, much of her early interactions with researchers and physicians were very discouraging.
Unfortunately, the rarity of MSD makes the development of research and treatment lacking in funds.
Amber was told she probably wouldn’t be able to help her daughter, regardless of what she did, because of the length of time therapy development tends to take. Amber was not to be deterred. She would try her best to help her daughter, and to commit to the journey it would take to help other MSD families.
Amber founded the MSD Foundation in 2016 and brought doctors and patients together to create a resource for families everywhere. The organization was designed to spearhead research and accelerate the development of an effective gene therapy.
Willow has been declining almost every day, according to Amber. She was diagnosed May 2016, she had stopped walking by December 2016. By April 2017 she could no longer sit up and in July 2017 Willow had to get a feeding tube. As of December 2017 Willow was no longer able to mover her feet or hands. Her muscles are slowly tightening and she is now on muscle relaxers to prevent contractures. She has respiratory issues which make the common cold a serious illness for her. Willow now has home nursing care, as she can’t do anything on her own anymore, and unfortunately will continue to decline.
“There are moments she smiles and she’s aware, but the lights are going out. She’s not in any pain right now, but eventually, she’ll have to be on pain medication.” –Amber