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Roisin is such a happy, silly, friendly child; she always has been. She brings a smile to everyone's face that meets her. She loves books, balls, her kitchen set, being outside, and taking care of her babies. She also loves to watch herself in mirrors or cameras while she makes silly faces. She is an absolute glutton for tortilla chips and pretzels, and will 100% steal your food and your drink, with a cheeky smile on her face. Roisin has a stubborn streak to rival a mule, and I absolutely love it. 

Around 16-18 months, I noticed she wasn't meeting certain milestones, and I pushed to be seen by pediatrics in Ireland. They ended up ordering genetic testing, and we found out that she is missing a part of chromosome 17 that encompasses the Neurofibromatosis Type 1 (NF1) gene. 

NF1 is a genetic disorder that causes tumors to grow on the nervous system throughout the body. It is characterized by café au lait spots, neurofibromas (small growths) on/under the skin, and freckling in the armpits/groin. Optic pathway gliomas, scoliosis, tumors in the brain and spine, and learning difficulties are also associated with NF1. Most tumors are benign, but there is a small chance of malignancy. NF1 presents differently patient to patient with a range of symptoms across the board. Currently, there are only 2 FDA-approved drugs on the market for NF1.

Roisin has NF1 Microdeletion Syndrome, which is a severe form of NF1. Characteristics of this are: developmental delays, facial dysmorphism, an increased risk of tumors (benign and malignant), along with the typical NF1 characteristics. So far, she has delays in speech and walking. She recently had an MRI that shows bright spots typical of NF1 in her brain, but no tumors!!!! She currently is in physical therapy, speech therapy, and occupational therapy. She is under NF1 pediatric care at the WashU/Children's NF Center. We have been back in the States since December, and the improvements she's made with communication/walking are astounding. She is absolutely flying it, and I honestly couldn't be prouder of her. 

The Neurofibromatosis Network, along with the Children's Tumor Foundation, work tirelessly raising funds for NF research, clinical trials, and patient/family education. Take a look at their websites for more information if you'd like!