At 6 months of age I noticed a ‘lump’ on LB’s back. After pointing it out to the pediatrician, I was informed that although it was probably nothing to be concerned about an Xray was recommended. The Xray results changed our lives forever. LB was diagnosed as having a gibbous deformity in his spine which was a leading symptom of MPS diseases. Ultimately, after weeks of genetic testing, LB was diagnosed as having MPS I (also referred to Hurler Syndrome).
In an attempt to give my son the best quality of life, and to save him from this awful disease, I moved to Minnesota to receive treatment at the Children’s Hospital at the University of Minnesota, while my husband stayed in our home town of Saratoga Springs working to maintain our medical insurance coverage. At 10 months of age LB was being prepared for his transplant. By 11 months he had begun the transplant process which included MRI testing, Xray testing, EKG testing, vision tests, hearing tests, neurological testing, 12 days of chemotherapy, blood transfusions, platelet transfusions, and the actual transplant.
My son’s smile lit up the entire community. He, like all MPS children, was strong and brave. He fought long and hard through a rigorous treatment plan. Although he was physically suffering he continued smiling through his entire treatment. It was only after twenty-six days without white blood cells, liver failure, lung failure, and kidney failure that he lost his battle against Hurler Syndrome. In order for you to see his true strength, I have attached a photo of LB.
What is MPS?
MPS is a complex disease. There are seven different types of MPS diseases, all of which offer little treatment. Children with Hurlers lack (or produce very little of) the enzyme known as alpha-L-iduronidase. This results in an inability to breakdown mucopolysaccharides, or sugar molecules. The symptoms of the disease include coarse or rough facial features (including a flat nasal bridge, thick lips, and enlarged mouth and tongue), short stature with disproportionately short trunk (dwarfism), dysplasia (abnormal bone size and/or shape) and other skeletal irregularities, thickened skin, enlarged organs such as liver or spleen, hernias, and excessive body hair growth, short claw-like hands, progressive joint stiffness, carpal tunnel syndrome, recurring respiratory infections, obstructive airway disease, obstructive sleep apnea, heart disease, corneal clouding, hearing loss or deafness, communicating hydrocephalus, and others. Although this disease is rare, it is very serious; without treatment children usually do not live past five years.
What is the available treatment?
There is currently some treatment available. The best treatment is a Bone Marrow Transplant, which, as you can imagine, is an extremely risky procedure including days of chemo in an attempt to bring these children as close to death as possible, and then attempting to bring them back to life with their donor’s stem cells. A transplant can be effective treatment, but many children are not diagnosed early enough to be eligible for a transplant because the disease is not recognized. Also the enzyme which these children lack has been artificially produced and can be administered to them through weekly enzyme replacement therapy sessions. Neither treatment is a cure.
Our MPS Friends
LB's Battle Against MPS I
You can learn more about MPS diseases at www.mpssociety.org.
Sat., September 10 @ 10AM
Saratoga Springs, NY
