Doctors, therapists and teachers told us time and time again that Noelle (yes - she was due on Christmas Eve) did not "look syndrome-y". Why would she? We had no history of genetic disorders in our family, I had a perfectly normal pregnancy and she was born a full-term, healthy baby one year before the gene causing BPAN was discovered. But early on, we noticed she wasn't reaching milestones like her older brother who was only 20 months her senior.
Everyone stressed that children are different and that she would catch up as she grew older, but she did the opposite. Despite starting various therapies before her second birthday, she fell significantly behind in her ability to speak and perform fine and gross motor tasks. She started experiencing seizures and would gain and lose simple everyday functions that you and I take for granted. For months, we cycled through doctors until we found partners who would be aggressive in our search for answers. At four years old, after more tests than any toddler should have to endure, genetic testing led to the diagnosis of her X chromosome mutation, BPAN.
Learning that Elle suffers from an ultra-rare neurodegenerative disorder that has no treatment or cure was heart-stopping. Realizing that she (at four) was older than the disorder, seemed cruel and hopeless. How was it possible that our beautiful hug monster, bursting with love and song would have her potential cut so short? It took time to regroup, but with the support of family and friends, we realized that our only defense was to mobilize in an effort to save Elle and other children affected by this horrific disease.
The next few years were spent realizing just how unknown BPAN is, even in the medical community. The most well-intentioned doctors come to our first appointment almost embarrassed - they’ve attempted to research her diagnosis and, after reading the handful of paragraphs that exist, still feel uninformed. There is so little known about BPAN that medical protocols don’t exist. We guess at how often to schedule MRIs, EEGs, blood draws, etc. When we’re worried about a new issue, we throw every test plus the kitchen sink at it in an attempt to catch the root of the issue. Since so few people are diagnosed, BPAN has not been appealing to researchers, nor has it been seen as profitable for drug companies to invest in. Don’t Forget Morgan is working to bring awareness to BPAN and it’s links to more commonly diagnosed disorders in an effort to change both of these facts.
When Elle was five and half, she became a big sister. Our third child, Theo, does not harbor the BPAN mutation. Watching him grow has been incredibly disorienting. We absolutely celebrate his development, but it’s unnatural to watch a one-year old cognitively surpass a six year old. Seeing him achieve big milestones far ahead of Elle has been bittersweet time and time again. Answering his questions about why she is “big, but still a baby”, tugs at our heartstrings and hearing our oldest son explain “special needs” and the importance of being a “helper” is beautiful, but staggering.
Today, Elle wears thick glasses and ankle/foot braces. Many would say she does look “syndrome-y”. Her cognitive function is roughly one-third of her age… but she is still a hug monster bursting with love. She still befriends the surliest of strangers and she is still the beautiful daughter that we prayed for. Thank you for learning about BPAN - your support gives our community hope for a brighter future. Please help us save BPAN kids by making a gift to fund research today.