Toddler struggles to fight rare genetic disease

I first learned of this rare recessive disorder mucopolysaccharidosis VI, or MPS VI from the story of 3-year old boy Trey Lane, who suffers from it.

Mucopolysaccharidosis VI, or MPS VI is a rare unpredictable disorder resulting from a deficiency of arylsulfatase B, thus preventing the degradation of polysaccharides. The excessive amounts of polysaccharides in the affected person’s body compresses soft tissues and bones and hinders proper growth of the bones. Most affected individuals have short stature, deformed facial structures, stiff joints, and corneal clouding.

Featured in the Arizona Central, Trey’s story captured media attention when his doctors told him that his $20,000-per-week treatment didn’t seem to be working (in delaying the progression of the disease). Trey hasn’t grown an inch or gained a pound in months. Trey soon met a 20-year old man who has been suffering from the same disorder and the two families found mutual support. Later, word got out about the young boy’s struggles and schools and other children began donating to his treatment. Next month, Trey will go back to Minnesota and try another round of treatments. The Arizona Central article didn’t mention the specific treatments for Trey, but a clinical trial for an enzyme replacement therapy using recombinant human arylsulfatase B (rhASB) recently found success.