Our youngest son has an ultra-rare disease.
He is one in approximately 300 million. However, it wasn’t until five and a half years into his life that we learned the name of his disease. From the time he was born, I was on a mission to find out the cause of his ever-increasing constellation of symptoms. An untold amount of testing and visits with dozens of specialists at four very well-respected institutions failed to reveal an answer. We were only able to rule out more common, albeit still rare, diseases. Finally, a geneticist agreed that whole exome sequencing would be worth a shot. He told us we would have a 30% chance of finding an answer, which were actually pretty high odds compared to the other testing our son had undergone.
The day our son’s disease was named I experienced a huge range of emotions. We found out that our son’s DNA had a spontaneous mutation that is associated with Snyder Robinson Syndrome (SRS). SRS is so rare that, according to available medical literature at the time, only 11 documented cases existed worldwide. Initially, I could not believe our son actually had a diagnosis. Then I felt relief, now I knew the cause of my son’s challenges. And then I was quite overwhelmed, when it sunk in that he does in fact have a life-long condition that results in significant disabilities. This is not something he will outgrow or overcome, as many people tried to tell us along the way. Perhaps most amazingly, the description of SRS described what we knew about our son – global developmental delays, difficulty walking and talking, hypotonia, seizure disorders, various physical attributes, and, as we had just the week prior discovered when my son broke his arm badly from a simple fall, severe osteoporosis.
With the knowledge of the name of our son’s disease, we became empowered. We met with the lead investigators of a potential NIH SRS study, who suggested that we create a website to help people with SRS learn from one another. I created a website and, though it is not yet finalized, my hope is that as more people are diagnosed with SRS, we can share medical information, the best ways of dealing with health and other issues resulting from SRS, and form a community of support. We met with the doctors who have seen almost every person with SRS, and who ultimately confirmed our son’s diagnosis through additional testing. We learned that our son is actually the 21st person to ever be identified with SRS. We also met with a biophysicist, who serendipitously is also studying SRS. Finally, my husband and I, along with the parents of 5 other boys with SRS, started a foundation to advance scientific and medical research related to SRS. We are now in a position to be able to do something to help not only our son, but also possibly many others. We discovered that what is in a name can be life-altering.
EDIT: Researchers are doing new work on this patient as covered by Fox Carolina here: