Naomi was born July 14, 2009 to our already little family of three. We had some issues with decreased fetal movement during the pregnancy, but otherwise she came out a big eyed, smiley little elf. We were doing so well post c-section they talked about an early discharge, until the neonatal pediatrician came to talk to us. They wanted to keep Naomi for another day or so because they believed she had bilateral hip dysplasia and would need leg bracing.They finally sent us home though and had us return for a hip ultrasound when she was two weeks old, which she passed with flying colors. We didn’t know that the first two signs of her disease just went over all our heads.
Shelby completed our family on December 8, 2011, big, beautiful and seemingly healthy. However, when she was a month old, the pediatrician kept going back to her eyes during a visit for what we thought may be an ear infection. I was born with congenital glaucoma in one eye and consequently lost my vision in that eye due to lens detachment, but had been told that it was very rare and that I wouldn’t pass it on to my children. We were sent to a specialist at Wills Eye Hospital in Philadelphia, who confirmed our worst fears. He scheduled Shelby for surgery the following week to help relieve the pressure in the affected eye. When he came to talk to us after surgery, he had some bad news. The disease wasn’t in one eye like he thought, it was in both. The Dr. then told us that I should seriously consider leaving my job as a Cardiac Technician. He said that it was going to be a rough time getting Shelby’s eye pressures under control and to stay stable, and that him and I were going to become best friends. I never went back after my maternity leave. And he was right, there were times I was in Philadelphia multiple times a week for visits and Evaluations Under Anesthesia (or EUA’s). When she was 6 months old, we got more devastating news, that her lenses detached just like mine. Terrified, the Dr. sent both of us for testing for another rare genetic disorder, which not only causes lens detachment, but also sudden death due to heart issues as well. Thank goodness we were cleared for that, but the Dr began his search for our rare condition.
It wasn’t until recently that he finally diagnosed us with a disease that doesn’t even have a name yet, it’s called LTBP2. Big eyes, congenital glaucoma, followed by lens detachment are the features. Shelby is closely monitored by three eye Dr’s every 3 months to ensure that her pressures remain controlled and that her optic nerves and retinas are healthy and intact. On top of being visually impaired, Shelby has cognitive delays, ADHD and will be undergoing testing for Autism. But she couldn’t be a sweeter more loving girl. We always say she’s the ”Mayor of Shelbyville” and greets everyone she meets with a big Shelby-bear hug.
Things with Shelby had calmed down for the time being, so in July of 2013 I signed Naomi up for 
ballet. During her recital, we all realized there was something wrong with Naomi. We had been asking her pediatrician since she started walking about her constant falling and he always told us it was normal for a toddler and that she was just clumsy. Naomi, now 4, was now not only falling all the time, she couldn’t get up off the floor, stairs were hard for her, and she couldn’t hop or skip. We were sent to CHOP to see a Neuromuscular Specialist and a year later after countless appointments, tests, false leads, a muscle biopsy and finally a full DNA panel she was diagnosed with Bethlem/Ullrichs Myopathy, a rare form of Muscular Dystrophy. It’s a progressive disease, and each year we see her strength wane and her abilities become fewer and fewer. Naomi needs a wheelchair to walk longer than a few minutes, stairs are impossible and she needs help with all the little daily tasks we all take for granted. She wears day and night leg braces, uses a chair lift to access the stairs and has a hospital bed to elevate her at night. Her type of MD affects the lungs, so we have to be vigilant for sleep apnea and anytime she’s ill it’s all hands on deck with round the clock nebulizer and cough assist treatments that clear her lungs of fluid to keep her out of the hospital. Thank goodness, having already left my job gave me the ability to be Naomi’s full time care taker. Naomi doesn’t let this get her down though. She’s lived up to the nickname “Elf”, as she’s mischievous and, as one Dr. put it, precocious! But she’s also very sweet and kind hearted and no home is dull with her in it.
I recently read a beautiful article comparing special needs parenting to an unexpected trip to Holland instead of Italy and I couldn’t have agreed more with it. We hadn’t planned on going on this special needs path, with having seen over two dozen specialists in three different states between them. But we’ve seen and learned things, as well as met some amazing people that we wouldn’t have without our “detour”. We love our two tour guides more than life itself. We want to give our most heartfelt thanks the Shannon Daley Fund for their kindness and dedication to special needs families like ours.