Hannah's Story

Hannah was diagnosed with MPS Type I on June 30, 2008- one week before her first birthday.

MPS is an acronym for a rare genetic disorder called mucopolysaccharidosis. Hannah's body was lacking an enzyme necessary to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. Over time, these glycosaminoglycans collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning, and mental development.

There is no cure for MPS although there are some treatments that are proving helpful, if successful. The first is enzyme replacement therapy (ERT), where a synthetic form of the missing enzyme is given through an IV weekly. It is helpful in the physical aspect of the disease, but doesn't cross the blood/brain barrier so it doesn't help with the neurological breakdown that occurs with the disease.

The second treatment is a stem cell transplant. Since the enzyme is produced in white blood cells, a transplant of healthy, enzyme producing stem cells will produce enzyme producing white blood cells, which do cross the blood/brain barrier. We made the choice for Hannah to start enzyme replacement therapy as soon as possible and start the process for transplant. Hannah responded almost immediately to the ERT, her liver started shrinking and her facial features became softer. A stem cell donor match was found very quickly and Hannah started chemotherapy to prepare her body for transplant on August 25, 2008 and transplant day was September 4, 2008. Hannah did not respond to the first transplant and it was deemed unsuccessful in early November.

We made the difficult choice, again, for another transplant. She started chemotherapy again on November 10th and transplanted on November 15. Just a few days later Hannah went into respiratory arrest and 5 weeks later she passed away. The strong drugs necessary to break down her immune system prior to transplant were just to much for her little body and we had to make the difficult decision to let her go on December 27, 2008. She fought harder than anyone I've ever seen, and harder than anyone should have to. She was surrounded by loved ones throughout her life and as she passed. We are grateful for the time we had with her, we just wish he had more.

For more information please check out www.mpssociety.org