B’s Story
B is an 11-year old girl who loves unicorns, rainbows, fashion, anything that glitters or sparkles, Justin Timberlake, the mall, and all desserts. She can be 100% full with no room for a single extra bite of dinner, yet manage to eat a chocolate cupcake in 10 seconds flat. She’s witty and silly and loves jokes and talking. When she was a toddler and her speech was delayed, I remember promising myself that I would “never wish her quiet,” and to this day, when she exclaims “I love to talk!” my heart still flutters. Her giggle, creative ideas and clever comebacks never cease to delight us.
B lives in California with me (her mom), her dad, her little sister who she absolutely adores (it’s a mutual adoration), her service dog, and a new pet bearded dragon.
Variant: c.4031C>A (p.Ser1344.Tyr)
History
B was born 5 weeks early in 2008 after several weeks of preterm labor and bed rest. She was born in respiratory distress and had some trouble with her suck/swallow reflex and eating, so she spent 17 days in the neonatal intensive care unit before coming home. The doctors and nurses all felt confident that those struggles were simply the result of her early birth.
Over the next few months, we noticed that her head control seemed a bit delayed and that her eyes often seemed to wander upward, but each time we mentioned anything to our pediatrician (a seasoned doctor who had been practicing a very long time), he told me that I was just a first-time mom and not to worry so much.
When B was six months old, we happened to have an appointment with another doctor in that same practice, and she noticed that B’s eyes were not quite tracking how she would expect them to be. Though she too felt like it was probably just related to B’s early birth, she referred us to a pediatric ophthalmologist. And so began our years of specialists and testing.
As B missed gross motor milestones and her low muscle tone became apparent, we saw neurologists, geneticists, physiatrists, orthopedists, and more. I vividly remember the fear I felt leading to each appointment and as we awaited each test result, only to be told that the tests were “normal” and thus, provided no answers. We even traveled to the east coast to see a pediatric geneticist who specialized in hypotonia with no known cause. He told us he believed there was likely a genetic cause for B’s challenges and that science would catch up with her -- that whatever “it” was just had not yet been discovered.
Ultimately, B was given an umbrella Cerebral Palsy diagnosis. Having exhausted all testing at the time without any answers, and with B always progressing, we decided, with the support of her amazing team of doctors, to take a break from testing and to focus on our girl, our family, and experiencing life together . . . B had been through so many tests; we needed that reset.
As we focused less on testing and more on researching and doing intensive therapies and having rich life experiences as a family, B thrived and so did we. She continues to progress in all of her therapies (physical, occupational and speech). She did an intensive session of Cuevas Medek Exercise (CME) Therapy in Santiago, Chile at 6 years old, which she greatly benefited from and she continues to do weekly CME therapy in California. And her list of life experiences racked up as well: she’s done adaptive surfing, adaptive skiing, been ziplining in Costa Rica, participated in an adaptive Cirque du Soleil-style show where she got to fly above the audience (all of which she loved; she is a thrillseeker who seems to crave movement and speed!). She’s even sat second row at a Justin Timberlake concert and he gave her his guitar pick!
Today, B is unable to walk or stand independently though she propels herself in her manual wheelchair (for short distances). She can scoot, which has long been her preferred mode of getting around our house, and crawl. With minimal stand-by assistance, B is able to transfer from her wheelchair to other seats. She can also swim independently, which is such an incredible blessing. Water is an equalizer for her and she loves to throw a swim party for friends! She has chronic ataxia and some irregular movements (chorea-like movements), dysarthria of speech, nystagmus, and smooth pursuit tracking disorder. Her eyes still tend to deviate upward, particularly if she is tired or not feeling well. She is also near-sighted and wears glasses, and has had two strabismus surgeries.
Over the years, B also had a few episodes where she would seemingly lose the ability to speak and become extremely lethargic after a minor head trauma (like a minor fall or bump to the head) or when mildly ill. When it happened after head bumps, we would rush to the emergency room, worried she had a concussion; they would do a CT Scan, tell us all was fine, and send us home. Several doctors hypothesized that this was just B’s reaction to pain, which made sense, because she always bounced back. We even considered whether it was a form of selective mutism.
But then, at 10 years old, B suddenly got very sick and had a medical crisis that very much presented like a stroke. She was in the hospital for two weeks, and did not speak or really wake up for over a week. Doctors ran test after test, thinking it was something like viral meningitis or autoimmune encephalitis. We were terrified. But then she recovered and made it back to her baseline. During the hospital stay, however, we had additional genetic testing done, which ultimately (two months after the hospital stay and post-recovery) provided us with her de novo CACNA1A variation diagnosis and insight into these episodes -- which we now understand were hemiplegic migraines -- and so much more.
Education
After a bumpy first year of preschool where, for lack of a better description, she was unfortunately surrounded by educators who were not “presuming competence” and in a district that did not do inclusion well, we found a community preschool that truly, truly showed us what is possible in inclusive education. B now attends an inclusive charter school and is in a general education classroom, supported by a one:one aide and various therapies, and with some additional accommodations to allow her extra time to finish assignments. She is going into sixth grade next year, and we are so proud of her hard work, perseverance, and grit.
For Those Newly Diagnosed
It sounds trite, but this really is a marathon and not a sprint. On the days when you think it’s too hard and you cannot do one more test or one more assessment or one more therapy exercise, don’t. Grab your child and go outside and do a thing that makes you both happy and relaxed. Blow bubbles. Sing. Dance. Giggle. It’s easier said than done, but this is a stressful road full of questions and worrying and work to be done; don’t forget to make time for living and joy in the midst of it all. And while this path is a different one than you envisioned, you and your child really can not just survive it, but thrive in it. Find your community, find other special needs parents with whom you really connect and who understand and support you, and hang on tight. There will be hard and heavy moments, but they will be outnumbered by the beautiful ones.