Two Siblings Get the First Bone Marrow Transplant to Treat a Rare Genetic Condition

Multiple sulfatase deficiency (MSD) is an extremely rare genetic condition passed along to children when both of their parents have the specific genetic mutation. Termed an ‘ultra rare’ and ‘one in a million’ condition, it had no available treatments even though those diagnosed with the condition typically don’t live to their teenage years. The condition leaves its patients without several enzymes needed to carry out key reactions to rid the body of waste, resulting in issues with cognitive development, skin conditions, and hearing loss. 

A team of researchers at the University of Minnesota, including Paul Orchard, MD, Professor in the Division of Pediatric Bone and Marrow Transplant & Cellular Therapy at the University of Minnesota, performed the first-ever bone marrow transplants on MSD patients in hopes it would be an effective treatment. Bone marrow transplants have been used in other similar conditions, but have yet to be tried specifically for MSD as the condition is so rare. Dr. Orchard and colleagues’ first patients were 10-year-old Grace Goodin and her 8-year-old brother Grant. Their treatments were a couple of weeks apart and they both had to be monitored for 100 days post-treatment. Even with the risk of being the first two patients to receive this treatment, doctors are still hopeful considering bone marrow transplants can be tricky. It’s still early and doctors can’t for sure tell how big of an impact the treatment had, but testing early on is showing promising results as their bodies are receiving the treatment well. To read the full article about this groundbreaking medical treatment, follow this link

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