The morning of may 2, 2016…
was when we finally got the news we were waiting for. The day our Neuro Genetics Doctor at the Children’s Hospital of Philadelphia told us he finally had an answer. After 9 years of appointments, numerous doctors, at different hospitals and a barrage of blood tests they found a mutation in the ASXL3 gene. It is called Bainbridge Ropers Syndrome and Dominique was 1 of 8 medically diagnosed worldwide. I remember we kept saying over and over, 1 of 8 WORLDWIDE. It was just so shocking and of course we had a thousand questions.
We left that appointment with a diagnosis, 2 paragraphs of information and contact info for another family. That was when I first talked to Caitlin Calder. After talking to Caitlin, and finding out more about Della, I realized how much our girls had in common. Facial features, delays in milestones, rapid head movements, non-verbal, all of it was a match. I felt so much relief knowing there was another family going through the same experience.
As a mother I think you just have an instinct that something isn’t right. I had a pretty normal pregnancy. Dominique was frank breech and I had low fluid levels, so that was something they kept an eye on but no major concerns. She was a c-section delivery at 38 weeks, no extended hospital stays, a birth weight of 6 lb. 1 oz. so tiny, but not too tiny.
It was when we got her home and started feedings that we knew something just wasn’t right. She vomited almost every bottle. Sometimes a little, sometimes the whole thing. We tried different formulas and did weight checks every week. While she was below the 5th percentile as a baby and a toddler, the weight held steady, so we just kept monitoring it. At about 3 months she was still floppy with no head control. She was diagnosed with Hypotonia and Failure to thrive and that was when the specialist appointments began. First with Neurology. We were told she was just a little slow off the starting block and would be fine in a few months. Uh, no. So, a month later we met neurologist number two. Followed by genetics, developmental pediatricians, orthopedic, ophthalmologists, gastroenterologists, ENTs, pulmonologists, clinical genetics, mitochondrial genetics, neuro genetics, swallow studies, sleep studies, MRIs, EEGs, lab work, etc. You name it, we’ve had it but still no answers.
At this point we didn’t care what they called it, we just knew we needed to get her some help. Her diagnosis was now developmental delay and at 8 months we started physical therapy. Shortly after came occupational therapy, speech therapy, special instruction and ABA therapy. Then at 18 months we did receive an Autism diagnosis. While she did check off most of the boxes, her doctors weren’t 100% convinced, and felt there was something genetic. Their feeling was right. At 9 years old, we received the BRS diagnosis.
We still don’t have a lot of definitive answers, but through other families, researchers and doctors we are working on getting them. For us, it was through early intervention and private therapy, that Dominique started to show progress. She sat up independently at 10 months old, scooted/crawled around a year old, cruised at 18 months and started walking at 3. But still no speech. She didn’t have the motor skills for Sign Language and PECS. Dominique started preschool at an Easters Seals location near our home. That was when we trialed a Dyno Vox. She did well although it wasn’t very portable for her. Around that same time, the iPad was being used as a communication device, so we decided to give it a try. 8 years later that is Dominique’s form of communication along with gestures.
Despite everything, and no matter how worried we were, Dominique was and still is, always happy. She is currently attending our local public school where she is learning to read and write through an adaptive Edmark program. Socially, she has made friends with her typical peers. They want to learn how to be her friend and how to communicate with her, which makes my heart beam. She taught herself how to play the piano at 3 years old and continues to take piano lessons. She is also a flyer for a special needs cheerleading team and loves to pray and attend church, drink Starbucks vanilla bean Frappuccino’s, go swimming, and listen to Beyoncé and Queen.
There certainly have been many tears shed over not always knowing what Dominique wants or needs. Questions like are we doing enough for her, what does the future look like for her. One piece of advice I always go back to was from Dominique’s very first physical therapist. She said, “don’t look too far into the future. You just never know what Dominique is going to be able to do.” With that, as she continues to amaze us, we live our best life. One day at a time, with a wonderful squad of family, friends, teachers, therapists and now, our growing BRS family.