Adrian is currently a 13 month old big brother who is thriving in his own unique ways! He has the happiest and kindest spirit, and he is so brave and resilient. He reminds me in many ways to slow down, breathe, and give ourselves grace. He was diagnosed with TUBB3 c292 G>A a few weeks ago. The first symptom appeared while he was still in the womb. During his 20-week anatomy scan, they noticed his left-brain ventricle was enlarged, however, after multiple follow up ultrasounds with Maternal Fetal Medicine, we were told that his ventricle was not enlarged and that it had just appeared this way because he was moving during the scan. Adrian was born 4 weeks early via an emergency c-section because I had developed worsening preeclampsia. The neonatal medical team were present at delivery although cleared him of any major concerns right away. He failed his newborn hearing screen and immediately presented with vision and eye movement abnormalities which we now know is a form of CFEOM. Throughout his first months of life, Adrian had frequent vomiting, extremely slow weight gain, excessive sleep and the back of his head began to flatten due to torticollis. We were reassured by multiple providers there were no concerns, and he would grow out of these things. At 6 months his eyes were still crossing and were sometimes unable to move past midline. The back of his head had progressively gotten flatter, and he was struggling to reach almost all of his developmental milestones. At his 6-month well-child-check appointment, his pediatrician decided to refer him for a cranial helmet, physical and occupational therapy evaluations and to an ophthalmologist. She also ordered a swallow study and a brain CT. When the CT came back with abnormal findings, a follow-up MRI was completed which also came back with abnormal findings and quickly led to the end of normalcy as we knew it. As it turned out, Adrian’s left-brain ventricle was enlarged and there was a problem with the development of his white brain matter. We spent most of his first year in doctor offices completing many different evaluations, tests, procedures and treatments. In a 6-month period, he had a total of 24 appointments not including well-child visits and twice a week therapies. It seemed like every time we’d go to one provider, we’d leave with recommendations and referrals to several other ones. This often resulted in leaving appointments in tears because we never received any real answers or solutions- just more problems. On Adrian’s first birthday he had his initial appointment with his neurologist who gave him the diagnosis of Cerebral Palsy and ordered genetic testing to find more definitive answers. We received the results about a month later-TUBB3 c292 an ultra-rare genetic disorder. Due to the limited research and understanding of this condition, we still have a lot of unanswered questions and unknowns about Adrian’s future, but we are so blessed to be able to virtually connect to others around the world who share the same or very similar challenges and experiences. Their stories have brought us a lot of peace of mind and clarity that we otherwise would not have today. Adrian absolutely loves to listen and sing along to music (especially Mickey Mouse’s Hot Dog Dance), read books with his mama, look at lights or black and white pictures. Physically he loves rolling all over our home until he gets himself stuck places and lately enjoys knocking ornaments off the Christmas tree. Adrian is currently at the developmental level of a 7-month-old baby. He babbles and sings but doesn’t say any words with purpose yet. He can sit up on his own but cannot stop himself from falling backwards when he starts to lose balance. He does not yet have the core strength to crawl or walk although in the last week or so, has begun practicing standing against the couch after being assisted into position. Adrian continues to reach new goals and gain skills every week. His diagnosis may be a part of him, but it will never be all of him. We will be meeting with a geneticist at Riley’s Children's Hospital, in Indianapolis, Indiana in March of 2025. We plan to pursue Adrian's current Treatment Team and Care Plan to learn different ways we can help him reach his full potential. Some Days are easier than others but no matter the challenges we face, the love and support we have for Adrian is infinite every step of the way.
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