Bed for Isla

When Isla was diagnosed with Ventriculomegaly at 32 weeks, her doctors did everything they could to prepare us for the “what-ifs.” They informed us, that we would have to be admitted to the NICU so that they could monitor her brain and perform an MRI. They told us, that not much was known of VM, but that the “worst case scenario” would be that she may have some developmental issues. However; when Isla was born, the “worst-case scenario” became the least of our concerns. She immediately had to be put on oxygen and a heart monitor because neither her heart nor lungs were fully developed at 39 weeks. She was incredibly small for being full-term, and she had many features that did not fit the bill for what a child with VM would have. As she got older, the features became more apparent, and the “issues” became greater. It’s like we were constantly climbing up a mountain, and whenever we got closer to the top, it would just get steeper. Thankfully, our pediatrician back in Georgia was receptive to listening to our concerns and sent us to a pediatric geneticist in Jacksonville. And when she turned 6 months, we finally felt like this would be the answer to all of our questions. We waited months for that report, and finally, the office called us. The words “inconclusive” felt like we hit a brick wall. They informed us, that there was just not enough information in her results to determine anything. They told us that they would put a note in her file to retest at 2. The next few years came with more specialists, and with each diagnosis that we got, Mike and I became more determined to find what was causing everything. At this point, we knew it was more than Ventriculomegaly but with no definitive proof, it didn’t matter what we thought. In March of 2023, she was officially diagnosed with Cerebral Palsy, we had hope and a branch to hold onto with this diagnosis, but deep down, we knew there was more and this was just scratching the surface. So we pushed on. We looked up every “sign” and every “symptom” that our sweet girl presented with, but none of them told the whole story. In July, right before we left for our summer vacation, the time had come to meet with a new geneticist from Yale. He came into the room, carefully looked over every aspect of my daughter, and asked me every question imaginable. He spent close to an hour and a half with us, and at the end of our meeting, he shook my hand and said “I will find something, and you will get answers. I won’t stop until we do.” At that moment, I felt at peace, because the look on his face just showed me that he believed me, and I believed him when he said he wouldn’t give up. On December 12, just 4 days after Isla turned 3, I got a notification that new test results had come in. At first, I thought it was just a repeat of her X-ray from a few days prior. But as I scrolled down, and saw “extended gene analysis” my eyes widened. I opened it and saw “single mutation found.” At that moment, I felt vindicated. Deep down, we knew, we always knew that there was something deeper, and as grateful as I was that something was found, I didn’t feel any joy. Isla has a single mutation on the FAT4 gene, and it is linked to Van Maldergem Syndrome 2. She is 1 of TWENTY people in the entire WORLD who has been diagnosed with this. With that being said, because this is a newer mutation, there is very little information about it. However; we are confident in the information that we do have, that this is in fact what our sweet girl has. Because of the uniqueness of our sweet girl, all of her doctors and therapists believed it would be the best option to get her a medical safety bed, and we were sent to get to work with insurance for one. However, although our insurance has been great and provided many necessary medical supplies for Isla, they deemed he safety bed a "luxury." Currently, Isla sleeps in a large pack and play, but now that she has her knee fixed, we know that this can't be a long term solution. We are so appreciative of everyone's help and support for our family over the years, and we hate asking for help, but finically we just can't afford to buy her the bed outright. Of course, if you can't help, we completely understand and welcome continued prayers!