Haley Hayes is a normal pre-teen, yet she suffers from Pompe disease. Pompe disease is a genetic condition, which causes muscle and organ impairment. Early diagnosis and enzyme replacement therapy could have helped mitigate these symptoms, since they’re far more effective when used on a younger patient. Many struggles Haley faces may have been avoidable if newborn screening tests were in place for the rare disease, reports WTKR.
Experts suggest that this is true for many rare diseases– they could be treated or reasonably managed if diagnosed upon birth, but it becomes harder once the disease has time to manifest and is discovered later in life. Now, a new bill have been introduced that might add tests for Pompe disease and MPS I (Hurler syndrome)to the screening for newborns in Virginia.
Haley, who suffers from muscle deteriorations and other severe symptoms, could have been spared this battle if she lived in another state. Immediate treatment for a patient with either rare disease could possibly save their life, and most definitely increase their quality of life.
Pompe disease limits muscle and organ function because of an excess build up of glycogen that the body can’t process. MPS I results in potential tissue, organ and cell deterioration because of a mutated gene that prevents the needed break down of glycosaminoglycans.
Delegate Todd Pillion didn’t know much about these diagnoses until a child from his House was diagnosed with one. Ruby Kate Leonard, born in Tennessee, was diagnosed right away with MPS I. Luckily for Ruby, in Tennessee they test for her condition and were able to start treatment just nine days after her birth. Ruby is from Virginia, but because she was born in another state, her life was significantly changed. Now Pillion wants to do something to help other children who didn’t have that opportunity in Virginia.
While Ruby was spared, this wasn’t the case for Haley who went 6.5 months before she received her diagnosis and treatment. If they had known earlier, a lot of the issues she’s facing today could have been avoided.
