This was a story I never expected to tell - as I'm sure most of us who write one of these often feel. Our silver lining is that this will have a happy ending, made even happier by your willingness to help ease our family's burden.
On April 8th, my brother Nathan and his fiance Lisa got the call that all of us were dreading. My beautiful, joyful, and heart-warming niece was diagnosed with Mucopolysaccharidosis I - Hurlers, also know as MPS IH.
MPS IH is the most severe form of MPS, which is a lysosomal storage disorder. In essence, Alexandra's little body doesn't make the enzymes she needs to rid her cells of the waste they create. So, the enzymes build up, around her joints, her heart, her brain...It may affect her eyes, and her ears, her liver and spleen, nearly every joint in her body. Hydrocephaly is common; physiological and psychological degradation is a certainty without treatment. It is a genetic disorder passed through mutated genes, the same mutated gene, in both the mother and the father. The chances of two people meeting, falling in love, having a beautiful baby girl, and this baby girl being born with this genetic disorder is less than 1 in 100,000. It's rare - rare enough that our families had no idea we had this mutation. And, rare enough that there is no cure.
At 13 months old, we have new hopes and dreams for my dearest Alexandra, which include being able to outlive her parents and her grandparents, and to be happy, in spite of the surgeries she will likely need, to manage the pain and limited mobility she will likely experience. We are all facing a new, life-long normal.
Alexandra will be starting Enzyme Replacement Therapy (ERT) in the next couple of weeks. It's a infusion of the enzyme that her body so desperately needs, in an outpatient pediatric facility, that will take approximately 6-8 hours, every single week (much in the same way that cancer patients receive chemotherapy). Nathan and Lisa will be taking their sweet baby to the University of Minnesota to meet their MPS Center team, and to start the process of finding Alexandra a match for her Hematopoietic Stem Cell Transplantation (HSCT). We are told that the center there is one of the best in the nation and have the entire team of specialists on staff that Alex will need to be evaluated by. After meeting the team, evaluating Alex, and starting the process of finding her a stem cell match, Nathan's family will be returning to Phoenix to continue ERT until the call comes through that a match has been found. From there, they will travel back to Minnesota for the transplant, which will keep one or both of them up there for 4-6 months, possibly longer, depending on recovery. We are hopeful the transplant will most certainly take place before Miss Alex's 2nd birthday. The sooner, the better.
ERT and Stem cell transplants cannot cure MPS IH. ERT helps with the soft tissue issues that arise from MPS, but it cannot stop the psychological degradation as it cannot pass the blood-brain barrier. This is where the HSCT comes in, which can stop a significant portion of the damage the disorder would normally do to her little body, before it occurs. Alex will likely require additional treatments later, as science has not yet found a way to address the skeletal issues she will experience.
There is many blessings in this. Alex is blessed with wonderful parents that will go to the ends of the Earth and beyond for her. She has a wonderful extended family who will do anything and everything in their power and means to make sure she and her parents have what they need, to try to ease this emotional burden as much as possible. We are blessed to live in a big city, with wonderful, compassionate, knowledgeable doctors. The fact that ERT and HSCT exist, is a blessing that we cannot begin to express our thanks for. A successful transplant will save Alexandra's life.
While health insurance will help significantly to provide Alex the bulk of the care she will receive, there are other associated costs that families with these kinds of long term medical needs are all too familiar with - Annual out of pocket expenses, travel to/from Minnesota, specialist appointments (opthamologist, audiologist, pediatric ortho, cardiologist, etc.), medication...the list goes on. The Robertson family, the Cortese family, and all of the extended family would be incredibly grateful for any bit of help that you would like to contribute, financially or even with meals for ERT days spent in the pediatric infusion center, or activities to help Alexandra get through the long days at the hospitals and during recovery. Any thing at all, including kind words and encouragement, would be graciously accepted and appreciated.