Our son Connor Francis Raymond was born on December 4, 2007, the youngest of our three children. Shortly after his birth, Connor began developing medical problems, one after another, including failure to thrive, camptodactly, torticollis, plagiocephaply, low muscle tone, global developmental delays, a heart defect, a seizure disorder, visual disturbances and severe osteoporosis.
As these issues arose, Connor underwent an endless battery of testing, scans, doctor and specialist visits. He was seen by experts at four large research institutions. No one could figure out what was causing his challenges. Connor spent the first five years of his life undiagnosed, a medical mystery. But Connor was not a mystery to his family. He was an open book – a sweet, lovable little boy who was engaging, happy most of the time, and a joy to be around.
When Connor was five, genetic testing revealed that he had a spontaneous gene mutation in a gene that really matters – the SMS gene. He was the 21st person in the world ever to be identified with Snyder-Robinson Syndrome (SRS). SRS is an ultra-rare disease with fewer than 100 people diagnosed worldwide. We were the 3rd family to be diagnosed in the United States. Once we had a diagnosis, we had the ability to help our son fight a disease we, and most everyone, knew nothing about.
We started to research SRS. Incredibly, soon after Connor’s diagnosis, we learned that Dr. Charles Schwartz and Dr. Roger Stevenson at the Greenwood Genetic Center were the leading SRS experts in the world. We traveled to Greenwood, SC to meet them and to meet the first family to be diagnosed with SRS in the United States. We also met with Dr. Cornelius Boerkoel at the National Institutes of Health, who was also researching SRS. He advised us to form a foundation for SRS research and to start a Natural History Study to document the disease.
Within a year of Connor’s diagnosis, we, along with the parents of five other boys with SRS, formed the Snyder-Robinson Foundation (SRF). Our mission was to advance medical and scientific research of SRS with the ultimate goal of developing a treatment or cure for SRS.
In the past seven years, the SRF has helped to fund ten SRS research grants and a pre-doctoral fellowship, created a Natural History Study, built two mouse models and received a Chan Zuckerberg Initiative Rare as One Grant. We have created an online community of people with SRS from all over the world. There are currently approximately one hundred people diagnosed with SRS in over twenty countries.
Along our journey, we have been fortunate to find members of the scientific community who took an interest in SRS and helped us move closer to our goal of curing SRS. We now have an amazing team of researchers and doctors who are working tirelessly to investigate SRS. They have published scientific papers that further illuminate the SRS disease mechanism. We are on the verge of testing potential SRS treatments in our mouse models.
Our journey has brought us in touch with so many incredible people – especially the boys and men living with SRS and their families. Though we speak many different languages, we all share the same goal – to improve the health of our loved ones. We have shared in the grief of losing loved members of our community to SRS. These losses have propelled us forward with more resolve. Time is of the essence, and we are grateful to everyone who has helped us along our journey.