Della was the third child diagnosed with Bainbridge-Ropers Syndrome and her incredible parents started the first ASXL3 website and the BRS Facebook Group which would forever change the way BRS families learn and share. Here’s a little bit of their story, as told by Della’s parents, Chad & Caitlin …
We are Chad and Caitlin Calder, parents of Della Belle (who was diagnosed with BRS in 2012.) At this writing Della is 11. For the first 6 years of Della’s life, we didn’t know what she had. We had narrowed it down to an unknown genetic issue but that was all we knew. It’s very unsettling to not have a diagnosis; something is wrong, you just don’t know what it is. Your mind tries to predict what your child’s future holds but it’s impossible, and so your child’s future becomes this gaping hole of the unknown. It’s truly a terrible feeling.
We were so excited when Texas Children’s Hospital and Baylor College of Medicine asked us to be part of the first families to go through whole exome sequencing. At that time it took 6 months to get results and we were on pins and needles that whole time! When we went in for the results, the geneticist said that the sequencing had indeed turned up something significant - a mutation of the ASXL3 gene! We were so relieved to hear this news. But then he said they had no idea what the ASXL3 gene does. That was not easy to hear. We joined Dr. Bainbridge’s study that day and then left with a lot of the feelings we had come in with: the fear and anxiety of not knowing what our daughter’s future holds.
Before we had the genetic testing done, we had started addressing Della’s signs and symptoms when we first noticed them. When she was 8 months old she wasn’t sitting up on her own, she had a hard time controlling her head, and she wasn’t babbling the way she should have been. Our first pediatrician shrugged off our worries, so we finally got a second opinion. The new pediatrician was very proactive about starting physical therapy, and later when Della was 12 months, speech therapy. For most of her life Della had 5-8 appointments a week for speech, occupational therapy, and physical therapy. She also had at least two appointments a month on specialist or another: orthotics, neurology, genetics, pediatric dentistry, opthalmology, ear-nose-throat doctors, gastroenterology, and a metabolic specialist, The past few years, that regimen has slowed down significantly, but we credit all her gains to early intervention. She started the preschool program for children with disabilities in our school district on her 3rd birthday. Her wonderful teachers worked hard to help her develop new skills. So regardless of having a diagnosis with no therapy guidelines, we did all we could to ensure our daughter got the help she needed.
As Della made progress, all of those appointments took a toll on our family, our older son, our marriage, our personal emotional health, and our finances. The stress of our day-to-day life was backbreaking and it can’t be put into words. The only people who understood were families going through the same stresses, and unfortunately, we had not found anyone who had a child with the same diagnosis.
About a year after Della’s diagnosis, Dr. Bainbridge called us and said several children had been identified with the ASXL3 mutation (called Bainbridge-Ropers Syndrome) and asked if we could become a point of contact for other families. We jumped at the chance! We created a BRS email address, wrote an open letter to other families on our blog, put up hashtags, and just waited. The first time we talked to another family over the phone was an experience we will never forget. It was filled with “My kid does that too!” or “I can’t believe someone else knows what I’m talking about!” That first year we had maybe 5 families contact us. As we pooled our information, a loose profile began to emerge. There was definitely a spectrum with some children having more severe manifestations of BRS and some children having more mild symptoms. We made a spreadsheet and documented what we were learning. As more families began to contact us, we added more and more information. Now when parents contact us, we are able to give them more definitive answers about what to expect.
The two questions every parent asked was “How long is my child going to live?” and “Is my child ever going to talk?” We always answer as honestly as we can. We tell them the age of the oldest child we currently know about and inform them that the majority of children are not able to speak. Although it’s hard to talk to grieving parents, it is also very heartening. We want to be the resource that we wish had been available when Della was diagnosed. We started a very basic home-grown website and a Facebook group to try and connect other families to each other. Today in the group there are almost 200 families with a child with a clinical diagnosis of BRS. I look back and think about that first year when we had no one to talk to, and I never would have imagined that we would find this many children! The families in the group have absolutely become a dream come true for the newly diagnosed. They are welcoming, encouraging, and willing to share their stories. They offer advice, tips and tricks, validation, a listening ear, and truly celebrate the gains a child makes - no matter how small. We each know the work that goes into a child with BRS using a spoon or standing unassisted for a few seconds.
As for Della, she started middle school this year. She was diagnosed with autism when she was 10 and had a feeding tube placed in her stomach that same year after she fell below a healthy weight. Della does eat by mouth, but most of her calories are taken through her tube. She started walking with a walker at 3 and independently at 6. She can’t run and she can’t walk long distances, but she gets around school and home just fine. She doesn’t speak but she uses gestures, youtube videos, and her speech device to communicate with us. She has some repetitive movements that many children with autism have. She also has poor eye contact but she loves to snuggle and hold hands (but only on her terms).
Della is her own woman! She can’t speak but she certainly gets her point across when she needs to. She recently asked for pink highlights in her hair and of course we obliged. She listens to the Beach Boys Pet Sounds album as well as Katy Perry’s “Firework” and a Daft Punk remix dozens of times a day. She likes to boss the boys around at school but never gets after the girls in her class. She high fives her bus driver every morning and asks for a chocolate frosty every afternoon. She hates going to church and loves going to the movies. When her caregiver got a tattoo, Della made us put temporary tattoos all over her body so she could match. She also asks us to buy her a Ford truck almost every day. We enjoy seeing her personality emerge, even if she is a moody tween.