Maura's Battle with MPS

Maura is a beautiful 7-year-old, who always has a smile on her face and is the perpetual clown. She loves You Tube and Nickelodeon singing star Jo Jo Siwa and wears a lot of Jo Jo Bows. Maura lives up to the Jo Jo song "Every Girl is a Super Girl" every day. She was presented the "Do the Right Thing Award" by her school district for helping and being kind to other classmates. Maura is our "Super Girl." You would never know that her body is deteriorating and she lives in constant pain. Maura was diagnosed with MPS I when she was 4.

Mucopolysaccharidosis I (MPS I), pronounced mew-ko-pol-ee-sak-ah-ri-doh-sis one, is a rare genetic disorder that affects many body systems and that leads to organ damage. It is caused by a mutation in the gene that makes an enzyme called alpha-L-iduronidase (pronounced al-fa el eye-dur-on-i-dase). Because of this defect, cells either produce the enzyme in low amounts or cannot produce it at all. The enzyme is needed to break down substances called “glycosaminoglycans” (GAGs), pronounced gly-cose-a-mee-no-gly-cans, which are by-products of chemical reactions in the body’s cells. If GAGs are not broken down, they build up in the cell, eventually leading to cell, tissue, and organ damage. Maura has been receiving weekly 6-hour-long Enzyme Replacement Therapy (ERT) infusions for years. However, she has built up an immunity and now they are no longer effective.

Blood and marrow transplantation (BMT) is used successfully to treat a number of cancers, blood diseases, and immune disorders that were once considered incurable, including MPS I. Maura will be receiving a blood and marrow transplant (BMT) sometime in May. To prepare her body, she will begin receiving a weekly regiment of: 8-hour-long infusions of Rituximab (an immunosuppression medicine that stops the antibody production by her immune system) every other Wednesday, continued Enzyme Replacement Therapy (ERT) infusions every Thursday,  and 4-hour-long IVIG infusions of immunoglobulins (to boost her immune system with new ones so she can fight infections) every other Friday. Immunoglobulins may also help to dilute the effects of the neutralizing antibodies she has.  This will last 6-8 weeks, starting in March, followed by rounds of Chemotherapy. Chemotherapy, radiation therapy and other agents used in transplants can cause unpleasant side effects. Each child may experience these symptoms differently.

Maura will likely spend several weeks in the hospital to recover. Her father and stepmother will be taking a substantial amount of unpaid time from their jobs to be by Maura's side. We  believe we can play a part in easing the financial burden of the exorbitant  costs of household bills, car payments, gas, and meals that will be accrued in the coming months.  If you are able, please consider providing a gift to help keep costs manageable.       Thank you and God bless.