Only 100 children known to have Multiple Sulfatase Deficiency worldwide
By Jim Bloch
It’s hard to imagine a six-year-old girl fighting against a deadly and extremely rare disease.
It’s even harder to imagine that she’s your own little girl.
That’s the daily reality faced by Mississippi couple Amber Olsen and Thomas Canaan, who have a link to the Blue Water Area, and their daughter Willow Canaan, who has Multiple Sulfatase Deficiency. The disease is so rare that the doctor in Jackson, MS who diagnosed the disease in Willow in 2015 had never seen it; the medical literature on the MSD was scant.
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“Multiple Sulfatase Deficiency is a very rare hereditary metabolic disorder in which all of the known sulfatase enzymes (thought to be seven in number) are deficient or inoperative,” according to the National Organization for Rare Disorders. “Major symptoms include mildly coarsened facial features, deafness, and an enlarged liver and spleen (hepatosplenomegaly).”
“Her cells are slowly dying because she lacks certain enzymes,” said Olsen. Without them, cellular wastes build up throughout the body and affect nearly every bodily function. “Her cells are dying.”
In 2002, researchers found that a single gene, known as SUMF1, causes MSD.
“We both carry the gene,” said Olsen. “It’s auto-recessive.”
That means each parent has a mutated version of the gene and a dominant, healthy version of the gene. To get MSD, a child must receive a mutated version of the gene from each parent. The chance of the disease being expressed — i.e., receiving two recessive genes — is one in four. Amber and Tom also have two teenage daughters who do not have MSD. But they know a family in California in which all three children have MSD.
“If you have the recessive gene, it’s one in a million chance that you’ll marry someone else with the same gene,” said Amber. “That’s why it’s so rare.”
Willow was fine when she was born. She appeared happy and healthy until she was 18 months old, smiling and walking. Then Amber and Tom realized that their little girl had elicited no signs of being verbal. When she was two, they took her to a neurologist who noticed slight abnormalities with her thumb and eyes. He ran a genetic panel on Willow and discovered the MSD.
The disease is terminal, the doctor told Amber and Tom. Willow will die before she’s 10, he said. There are no doctors in the U.S. who know anything about the disease. You can do palliative care and make her comfortable until she dies.
What about all the hospitals in the country that specialize in childhood diseases, like the Shriners Hospitals or St. Jude? Surely we’ll be able to find someone to treat her, Olsen thought.
She was wrong. Willow soon regressed to crawling.
“By age three, she couldn’t move at all,” said Olson. “Today she needs total care, including a feeding tube. Cognitively, she’s declining. She smiles and laughs, but she’s dying before our eyes.”
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Olson is a franchisee of staffing and recruitment agency, Nextaff Gulf Coast, in Ocean Springs, MS.
Husband Tom worked with Port Huron resident Dave Everett at two informational technology companies.
“We were business partners in Nerds on Site and ThunderCurrents and worked together for several years,” said Everett, now the director of GBS Media, which produces Blue Water Healthy Living. “We had a pretty special bond.”
Everett saw a recent story about Willow on Good Morning America online and suggested that BWHL help get the word out.
Olson and Canaan started a foundation called the United MSD Foundation, which has raised $2.3 million, but needs at least $620,000 in additional funds to make the gene therapy medicine that offers the hope of a cure and to conduct the clinical trials necessary to bring the treatment to market. It is the only foundation in the U.S. dedicated to finding a cure for MSD.
The foundation is a 501(c)(3), which means all donations are tax-deductible.
Amber and Tom work with Alan Finglas, of Ireland, whose son Dylan has MSD, and their MSD Action Foundation.
The two groups met with doctors in Europe who advised them that it was likely too late for the work they were doing to save their children.
They are only too aware of that. Their commitment to finding a cure is for all children with MSD, now and in the future.
Largely through social media, the foundations have located about 100 children with MSD worldwide. Olsen estimated that the total could be 10 times that number. There are currently no known children with the MSD in Michigan. Or Canada. Or Australia.
Together, the two foundations have funded a gene therapy trial in which mice with MSD were cured.
Olsen reminded potential donors that Giving Tuesday is Dec. 2.
To make a donation, send a check to United MSD Foundation, 2112 Bienville Blvd., Suite B2, Ocean Springs, MS 39564. To donate online, visit http://curemsd.org/donation/ and click on “Donate Now.” For details, call the foundation at 228-295-7084.
What about Willow’s fate? “She may not make it to a clinical trial,” said Olson. “All I can do is hope.”