I’ve struggled a little with how much to share about Anna’s story and how and to whom. I want to respect her privacy and that of our family, but I think our friends and extended family should know who she is. She’s beautifully unique and we couldn't love her more. And, ultimately, it was so helpful when we were first navigating her hospitalizations to find other families who had traveled a similar path. Too often, we hide our challenges away. So here we are. Transparency is powerful.
Like her brother before her, Anna was very small in utero. She was diagnosed with fetal growth restriction, monitored to make sure she was growing and receiving enough nutrients via the placenta, and induced to come into this world at 37 weeks. At a few of her routine weekly ultrasounds, a doctor or two mentioned the possibility of dwarfism instead of growth restriction, but we thought nothing more of it and wouldn’t have received test results back before she was born anyway. Once induced, she came quickly. She was small and strong and healthy, but soon had what the doctors euphemistically called “apnea events,” prompting a stay in the NICU and then an ambulance ride across the street to Nationwide Children’s Hospital in Columbus. An aside: we’ve never considered the proximity of a children’s hospital when choosing which jobs to take and where to move, but I couldn’t imagine how much more difficult this would be without such incredible health resources nearby. And good health insurance that pays for such resources. Two weeks and every imaginable test later, we were cleared to come home.
At three months, Anna remained small, with short limbs and a larger head that she still struggles to control. We started noticing short “episodes”; 20-30 seconds where she freezes, stares slightly to the right, and clicks her mouth. In retrospect, similar events had been happening for a while, but it was only as she became more alert and active that they became more noticeable. Her brave and resourceful au pair videoed one such episode, which her pediatrician sent to the neurologists at the children’s hospital (“just in case”). An EEG confirmed an underlying propensity for seizures and we were prescribed a low dose of Keppra, a common anti-convulsant, as we waited to see a neurologist in clinic. Before that could happen, Anna’s seizures escalated to one per hour or so. This led to an emergency room visit, an extended stay back in the children’s hospital, more tests, and finally some answers.
In short, Anna was diagnosed with a form of dwarfism called hypochondroplasia. Often referred to as a “mild” form of achondroplasia, the most common type of dwarfism, hypochondroplasia is characterized by short arms and legs and a relatively large head. It also often results in epilepsy. In Anna’s case, the genetic mutation that causes her bones to grow more slowly also caused her hippocampi to be shaped atypically, which is causing the seizures. She has a de novo mutation, meaning it’s new to her. Any children she has will have a 50% chance of inheriting the mutation.
For now, we’re still working to control Anna’s seizures, which are difficult for us to watch but not actually doing any damage– as her team of neurologists assures me every time we’re back in the hospital adjusting her medications. They do make it challenging for her to meet typical milestones, especially considering the effects of the medications and her other physical challenges. At five months, she still cannot control her head, but is working hard every day– with the help of her au pair and physical therapists– to gain a little more independence. She can roll over and compensates for any physical delays with an infectious personality and constant chatter.
I don’t want Anna’s diagnoses to overshadow her. She is the friendliest baby I know. She seems genuinely excited to meet each new doctor, nurse, and therapist, even those that bring discomfort. She is the most talkative baby I know. She coos and “sings” constantly, and we are convinced she says “hi,” “hello,” and– in Portuguese– “oi,” at the very least. She is also the most stubborn baby I know. Life has not been easy for her, but she fights through and does more than I ever think possible. We’re settling in to new understandings of parenthood (and life!), proud of the best big brother imaginable, grateful for the advantages we can offer her, and increasingly aware that these privileges are not accessible to all. We hope that Anna’s story can bring attention to these challenges and disparities.
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