Help Reina and our family raise for a cure and for her care. Reina was diagnosed with MPSIVA- Morquio syndrome at 4 years old. What causes the disease? Mucopolysaccharides are chains of sugar molecules used to build connective tissues in the body. “muco” refers to the thick jelly-like consistency of the molecules “poly” means many “saccharide” is a general term for a sugar molecule The body constantly replaces used materials and breaks them down for disposal. MPS IV patients are missing an enzyme essential to breaking down the mucopolysaccharide keratan sulfate. These materials remain stored in the body’s cells, causing progressive damage. Babies may show little sign of the disease, but as cells sustain damage, symptoms start to appear. How common is MPS IV? MPS IV is one of the rarest of the MPS diseases in the United States. Reliable incidence figures are not available, but estimates find the disease in 1 in 200,000 to 300,000 individuals. How is the disease inherited? MPS IV is caused by a recessive gene. There is a one in four chance with every pregnancy that the child will inherit the defective gene from each carrier parent and will be affected with the disease. There is a two in three chance that unaffected brothers and sisters of children with MPS IV will be carriers. Is there a cure for MPS IV? There is no cure for MPS IV. In 2014, Vimizin was approved by the FDA as a enzyme replacement therapy for MPS IVA. Reina is now a happy, loving and sassy 7 year old. She has had 5 major surgeries, traveled to many specialist from Denver CO to Wilmington DE. Reina just finished surgery on Denver for her tonsils, adenoids, reduction of turbs and lingual tonsils laser surgery. Her next trip is back to Denver for her sleep study follow up, then Omaha NE for our bone dysplasia clinic, last stop til fall Wilmington in May for no lateral hip surgery. This is where Dr. Tomatsu and his team are working to find a cure, help us fund to cure and care!
