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My name is Catriona Humphrey and I have been a parent to four beautiful children for almost twenty years. However, I’ve spent the last couple of months now knowing that I am a parent to a child who will never grow up, most likely won’t even reach her sweet 16…and she’s already 8. My youngest, Fiona, was diagnosed with Sanfilippo Syndrome Type A, or MPS IIIA, a rare lysosome storage disorder. This horrific disease will rob her of her ability to talk, then walk, then eat. It will take her vision and hearing; cause her to have seizures, and give her dementia, before finally claiming her life in her early teens. There is no cure.
Unfortunately, Fiona isn’t the only one in our family with a rare syndrome. On July 30, 2013, long before we learned about Fiona’s disease, I was diagnosed with Loin Pain Hematuria Syndrome (LPHS), a rare kidney disorder which is fortunately not life-threatening, but causes debilitating pain. This has left me permanently disabled. At the time, LPHS turned our world upside down, it tore us away from our beloved home and community in Michigan, to the warmer climates of Florida, as the cold weather makes my pain worse. It wasn’t our dream situation, but things were falling into place and life was as good as it could be.
After the move, we began to learn a lot about Fiona, although she had previously been given a diagnosis of Autism, she was developing behaviors which were concerning. We saw multiple Doctors who ran a barrage of tests and added the diagnoses of Cerebral Palsy and a seizure disorder. We still weren’t convinced these matched and wanted a better answer as to why Fiona was getting older, but not changing cognitively. One Doctor suggested genetics, which eventually got us Fiona’s diagnosis on November 25, 2016. Ironically, the day after Thanksgiving, Black Friday, was the day a countdown started on Fiona’s life.
My husband, Randy, is trying so hard to hold this family together. He is an incredible man. He works full-time in the evenings to ensure that during the day he is available to take Fiona and me to all of our appointments, since I can’t drive due to my medications. Most days I am unable to get out of bed for more than a couple of hours, which also leaves Randy to do all of the household chores, and raise our other 3 children as well as Fiona. Although he is only able to get a few hours of sleep each night, he is always full of energy and determined to find all the things to smile about. No matter what has happened in his life, he has always put his family first. Randy is the kind of person who would literally give you the shirt off his back. In the midst of all of this, he still opens our home to friends in need, and is always happy to give coworkers rides home after work. I really don’t think it’s in his vocabulary to say no. It’s who he is. It’s just in his nature. So why has his family been cursed with not one, but two rare diseases? One that causes chronic, debilitating pain to his wife and the other that will end his innocent child’s life before the world has gotten a chance to know her.
Throughout our lives we lock important dates into our memories for the purposes of celebration; birthdays, weddings, anniversaries, etc.. My family, however, has two devastatingly life-altering dates burned into our memories, with a third looming on the horizon. We need a good date in our lives, and I am writing to ask you for help with that. Fiona doesn’t have the luxury of time. We need to raise funds for research, for clinical trials, and for medications developed through those trials, and we need it now. Without it, that third date on the horizon will be that of our sweet Fiona’s death. Please help me avoid that by sharing our story and helping raise awareness. Help us have the next date to remember be that of our sweet Fiona’s CURE!
The mission of the National MPS Society is to fund research and provide support for families affected by MPS and related diseases.
Please help our family and support the National MPS Society. Every donation will make a difference in the lives of those affected by MPS and related diseases. Please visit www.mpssociety.org for more information.