If you know our son, River, you know he's a complete ray of sunshine and happiness to all. River was born early on December 2nd, 2020 at 34 weeks. Despite being premature, he came into this world a happy and joyful baby, who brightens up our day with his infectious laugh and ear-to-ear smile.
At just 5 months, we recognized that River was behind in his development, most specifically that he wasn’t able to hold himself up. He seemed floppier than his same-aged peers, and he wasn't entirely responding to age appropriate cues or following typical developmental trajectories. After speaking with River’s pediatrician and doing our own research, we quickly set out to uncover the cause of his hypotonia (low muscle tone) and other delays. Through intensive genetic sequencing, River was, devastatingly, diagnosed with ATRX Syndrome, the result of a completely random mutation.
This exceptionally rare genetic disease (less than 400 known cases worldwide) is the cause of River’s hypotonia, global developmental delays, including intellectual disability. It is such an extremely rare condition that most doctors, other than River's geneticist, hadn't even heard of it, let alone knew how to begin advising us on getting treatment and help. And to further highlight the rarity, River is the only one with his specific documented mutation.
As a result of this mutation, River will always have low-muscle tone, which makes it extremely difficult for him to learn to walk, talk, and it impedes his fine motor skills. The hardest punch-to the-gut for us is that, based on his current functioning, he has, and will continue to demonstrate an intellectual disability. It even impacts his airway making it harder to breath whenever he has a minor cold. Sadly, River has had more trips to the ER just in his first 2 years than most will ever experience in their lifetime.
Never ones to just sit and take it, we immediately set out to discover the leading ATRX experts in the world. One of whom, Dr. Allison Bradbury in Columbus, OH, is designing a complete genetic cure for all suffering from ATRX. While a full genetic cure is years if not decades out, Dr. Bradbury hypothesized that a cutting edge technology called Antisense Oligonucleotides (ASOs) could be designed and used to mitigate River’s specific mutation.
After months of diligent research, Dr. Bradbury’s work using River’s DNA has been remarkably fruitful and provides us with hope. However, no matter what way we slice it, it will be costly.
We are now urgently raising funds for the tremendous cost to bring River’s developed ASO’s through the entire testing and FDA process so it can safely be used safely on him.
As you might imagine, it is a complete race against time. With every passing day, River's genes replicate the mutation and his delays grow more permanent. By the time he is 5, much of it will be set. He will be 3 in December of 2023. The sooner he can receive the ASO technology, the sooner we can give this remarkably playful and loving little boy his brightest possible future.
When our baby was born, we imagined a future that included watching him excel in school, attain a career he loved, and discover whatever and whomever made him happiest. We remain optimistic and hopeful as we navigate the many challenges ahead of River, and we recognize this is no small or quick task.
We are reaching out to you, our friends, family, and neighbors during this time sensitive journey to help raise funds that will be used directly to accelerate all procedures, necessary travel, and optimal care for River so he can be the happiest, healthiest version of his bright loving self.
It is unlikely he will be able to do it alone without genetic intervention. You can make a difference.
We truly appreciate any and every donation. If you aren’t able to donate, please consider passing along River’s story to others so that we can bring more awareness and focus to his cause.
With Loving Hearts,
Ross, Robyn, and River