5 years after a first-in-the-world transplant, siblings are living with hope
In 2019, Grace Goodin, then 8, and her brother Grant, 6, were diagnosed with an extremely rare genetic disorder called multiple sulfatase deficiency (MSD).MSD has no available treatments, so children with severe MSD don’t typically live past age 10.
MSD causes sulfatase enzymes, which break down sugars and fats in the body, to malfunction. This leads to the build-up of toxic by-products within the body. The condition affects the brain, heart, bones, and many other bodily organs and systems.
“We couldn’t wrap our heads around this diagnosis,” their mother Tonya remembered. “Our kids are beautiful, they’re thriving. How is it possible that they have this terrible disease?”
Grace had symptoms similar to those of autism spectrum disorder. Grant experienced growth hormone deficiency and sleep apnea. Both had extremely dry skin.
At home in Missouri, the Goodin family was told that their only option was to wait as the disease progressed.
That wasn’t an option the Goodins were willing to accept without a fight. They connected with the families of other MSD patients across the globe, advocating for research and supporting each other through the difficulty of a disease with no cure.
A difficult choice, but a choice
At a rare disease conference in 2020, the Goodins met Paul Orchard, MD, an M Health Fairview Pediatrics Pediatric Blood and Marrow Transplant Physician and a professor at University of Minnesota Medical School. M Health Fairview has one of the largest and most respected pediatric blood and marrow transplant programs in the country.
Orchard had never seen a patient with MSD before. It’s a rare disease that only affects about 1,000 people in the United States. But he is an expert in bone marrow transplants and believed that it could help Grant and Grace.
“There are 17 known sulfatase enzymes in the body. So far, we know that seven of them are associated with disorders,” said M Health Fairview Geneticist Nishitha Pillai, MBBS, FACMG, who also serves as an assistant professor at University of Minnesota Medical School. “Children with MSD can have symptoms of all seven different types of disorders. Among these seven, the treatment option for some is bone marrow transplant, but no one had tried it for MSD previously.”
The University of Minnesota and M Health Fairview have been on the ground floor of using transplant as the pioneering therapy for these rare, inherited disorders.
“The idea is that, for patients who have a missing enzyme deficiency or other problem, somebody else’s normal blood cells might help circumvent the problem by supplying the missing gene product,” Orchard said.
Finally, the Goodins had a choice to make.
“We didn’t know whether BMT might be effective, but we had a choice: Do we try, or do we sit back and let this disease take our children?” Tonya said. “In trying this option, we hoped to change the path for our family, and maybe for many families to come.”
In late 2020, Grace became the first ever bone marrow transplant recipient for MSD. Grant got his transplant a few months later.
Five years later
In 2025, 15-year-old Grace and Grant, almost 13, returned to M Health Fairview Masonic Children’s Hospital for follow-up visits. They are happy, healthy, and have a high quality of life, Tonya reported.
“With a transplant, we don't expect to recover what they previously lost,” Orchard explained. “The transplant is primarily to help slow or stop progression of the of the disease and we really haven't seen much progression at all for either of them.”
Grace is fun, determined, creative, and loves her pets and watching football. She enjoys dancing, gaming, and playing badminton.
Grant is the comedian of the family. He enjoys basketball, gaming, and playing his saxophone -- or any instrument he can get his hands on.
“Our family now lives with hope each day because M Health Fairview gave our children a new chance at life by performing this procedure that had never been done for MSD,” Tonya said.
