Genetic Therapy for River

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, and global developmental delays including his 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 any sort of treatment or help. And to further highlight the rarity, River is the only one in the world with his specific documented mutation.

As a result of this genetic disease, River will always have low-muscle tone. This made it extremely difficult for him to learn to crawl and now master walking with his physical therapists. It impedes his fine motor skills, causes severe constipation issues, and, frustratingly, is one of the three main reasons for his being nonverbal. It even impacts his airway, giving him sleep apnea at night, and making it harder to breathe whenever he has a minor cold. Sadly, River has had more trips to the ER in his first 4 years than most will ever experience in their lifetime due to his weak airway and compromised immune system. The hardest punch-to-the-gut for us, however, is that River is incapacitated with intellectual disability.

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 along with the help of Dr. John Watts at U-Mass has been remarkably fruitful and provides us with hope. However, no matter what way we slice it, it has been, and will continue to be costly.

We are now urgently raising funds for the tremendous cost to bring River’s developed ASO’s through the FDA and clinical research manufacturing process so it can safely be used safely on him.

As you might imagine, it is a complete race against time. The older River gets the more permanent his delays will be. By the time he is 5, much of it will be set. He is now 3 as of 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.

Genetic intervention can positively impact his entire life, and you can make a difference.

We truly appreciate any and every donation. If you aren’t able to donate, please consider sharing River’s story along your social media outlets so that we can bring more awareness and focus to his cause.

With Loving Hearts,

Ross, Robyn, & River