Help Ace Attend the RyR1 Family Conference

My name is Adrienne and I have the honor of being Ace's mom. Ace is an amazing, determined, creative, funny, brilliant kid that happens to have a rare genetic muscle condition, RyR1 Congenital Myopathy. We are incredibly fortunate that Ace's symptoms are currently not life-threatening, but they do require additional medical attention and therapies. Ace's symptoms are also visible and therefore can cause him to stand out among his peers. While he has never let his limitations stop him from trying new things or making new friends, we would love to be able to learn more and meet other families in the same situation.

I created this fundraiser so Ace's dad and I can bring him to the RyR1 Family Conference in Pittsburgh this summer. Since we received Ace's diagnosis, we have not met anyone else affected by this condition. It has been a long and emotional journey working to find answers to Ace's symptoms and learning more about what having an RyR1 gene abnormality means for his future. This conference will provide us our first chance to meet other families going through the same experience, learn from medical professionals researching RyR1 conditions, and hear about the newest therapies and studies being done. It will also give Ace a chance to meet and play with other kids like him.

"For a rare condition like RYR-1-RD, providing a forum for affected individuals and families to meet others like them has significant psychological value. When an affected individual or their family members seek to find someone else who understands what they are experiencing, a Family Conference becomes an invaluable and necessary resource. It is a goal of The RYR-1 Foundation to enhance and enrich these relationships within the RYR-1-RD community by hosting Family Conferences every other year." (https://ryr1.org/family-conferences)

Unfortunately last year we experienced some unexpected additional expenses that we hadn't budgeted for (a flooded basement, multiple ER visits and a hospital stay for Ace, and additional out of network therapies for Ace). This means that a trip like this is not financially an option at this time. We are humbling ourselves and swallowing our pride to try and raise at least a portion of the funds needed to get Ace to the RyR1 Family Conference this year.

Thank you for your continued support and love of Ace and our family!

If you would like to learn more about our journey with Ace continue reading below:

Ace has RyR1 Congenital Myopathy. He inherited three faulty RyR1 genes from me, his mother, and one faulty RyR1 gene from Rob, his father. We believe these four faulty genes are what is causing his gross motor symptoms. The three genes from me are also associated with Malignant Hyperthermia (MH), a deadly reaction to certain anesthesia drugs. Jude, Tess, and I also have the MH genes. The one gene from Rob is currently undocumented and unstudied. We have been told that Ace is the only recorded case, globally, of having these four abnormal RyR1 genes.

At Ace's one year check-up, his pediatrician noticed some gross motor symptoms that she felt should be addressed by Early Intervention. After our first session with Early Intervention, we were referred to a orthopedist who immediately referred us to a neurologist. Thus began our multi-year journey to figure out what was causing Ace's symptoms. After years of tests, MRIs, x-rays, appointments, multiple doctors, several rounds of DNA testing, physical and occupational therapy, and countless trips to MGH and Boston Children's Hospital our wonderful neurologist, Dr. Krishnamoorthy referred us to his colleague at the National Institute of Health (NIH). Dr. Carsten Bonnemann invited us to the NIH for an evaluation. It was at the NIH that we learned more about RyR1 conditions. The RyR1 gene sequence has only been studied for about 10 years, and therefore there is still so much that is unknown. But through the work Dr. Bonnemann, the NIH, and the RyR1 Foundation is doing we are hopeful that in our lifetime we will see some wonderful progress in understanding and treatments of RyR1 conditions. Because Ace's gene abnormalities are so rare we have agreed to allow his case to be published and studied. It is possible that Ace will help provide researchers with more information about RyR1 conditions and even lead to a breakthrough in this field of research.