Feb. 25, 2019
Posted by Christina Jensen
The following story was submitted by Katia Luedtke in honor of Rare Disease Day. In this story, Katia shares her family’s journey of searching for and receiving a diagnosis for their son, Connor, of Snyder-Robinson Syndrome (SRS).
Our son Connor was diagnosed with Snyder-Robinson Syndrome (SRS) in 2013 when he was five years old. When he was born, Connor appeared to be a completely healthy infant. However immediately following his birth, he started to lose weight and at two weeks, he was hospitalized for failure to thrive. This was the beginning of a host of medical issues that beset Connor, which at first seemed unrelated and later became undeniably intertwined.
Connor is a lovely child, with a smile that melts your heart and a laugh that sends it soaring. As he grew, it was clear that his muscles couldn’t do what he wanted them to do: he wasn’t able to walk, talk or move much at all. I was compelled to research late into the night to find doctors, institutions, studies, tests, anything that might provide an answer.
Nothing could definitively tell us what caused Connor’s hypotonia, scary high fevers, retinal eye lesion, camptodactyly, torticollis, febrile seizures, global developmental delays and why we found him unresponsive in his bed at times. The search for a diagnosis took over our lives for more than five years.
We took Connor to every to therapy we could, including physical, occupational, speech, aqua, integrative manual therapy and therapeutic riding. After several years, he started to walk just a tiny bit. Although unsteadily, it was amazing and humbling. The small things became huge and our world started to revolve around them. We moved to a different house so he could move around more easily. Connor began to talk more and we were absolutely over the moon with his progress.
One day, Connor walked out of Sunday school, lost his balance and fell to the floor. His arm was like rubber, his coat wouldn’t go on. The ER doctors asked, again, how did he fall? His arm was broken in half, just below the elbow, compound fractures of the two bones, which normally is caused by a car accident or falling off a jungle gym. When I took him to the orthopedist the next day, he howled and tried to hit me because he couldn’t understand the pain; the screaming and the look on his face still haunt me. I felt powerless to help him, and the times when he hurt the most or experienced a medical crisis reinforced that conviction.
Five days later, we met with his geneticist who had just received Connor’s whole exome sequencing results. “Your son has a random genetic mutation of the SMS gene, consistent with Snyder-Robinson Syndrome,” he explained. He handed us a copy from a book on X-linked genetic disorders, which said there were 11 documented cases of SRS. We read the description, and it included our son’s issues: seizures, developmental delays, difficulty walking and talking and, new to us, osteoporosis. We were relieved to finally have an answer, something to wrap our heads around.
Almost immediately, we began a new mission – to connect with doctors, researchers and other SRS families and to learn as much as we could about SRS. I was almost giddy when I realized that I could now focus all my efforts on helping Connor and others with SRS. We were facing a new challenge, but it didn’t feel so daunting because we were now driven by hope instead of by fear.
We now know a lot more about SRS. In the last five years, we co-founded the Snyder-Robinson Foundation with four other SRS families, our mission being to help researchers develop treatments for SRS. There are now approximately 65 people who have been diagnosed with SRS worldwide. We found one another through the doctors researching SRS, the Foundation’s website and our online support group for SRS families. The Foundation now has members in 10 countries and has funded eight research grants to scientists at leading universities, six through the Million Dollar Bike Ride in conjunction with Penn Medicine’s Orphan Disease Center. The Foundation has so far helped to generate two potential SRS treatments that are in the early stages of development and helped to develop a mouse model to test the drugs for safety and efficacy once developed. The Foundation implemented an SRS Patient Registry/Natural History Study, which has already begun to change the way in which SRS is understood.
We now know that SRS is a devastating disease. SRS causes an imbalance of polyamines, which are essential for normal brain and tissue development. The animal models demonstrate that SRS impedes normal development and survival. Most people with SRS have seizures, some have uncontrolled seizures; most have hypotonia; some are not able to walk, talk and/or swallow; most have osteoporosis, most have scoliosis and/or kyphosis; all have some degree of intellectual disability, distinct facial features, and most have other critical health issues.
Connor sees fourteen doctors and specialists, he has four therapies, and he will need assistance for the duration of his life. Most of his doctors have never heard of SRS before they met him. Managing his care is time-consuming and challenging. And yet, for a person with SRS, Connor’s health has been relatively stable. Others with SRS can face much greater challenges, requiring more extreme medical intervention for their stability. The most heart-breaking part of this journey has been losing our community’s beloved children and family members to SRS. Though we span the globe, we are an SRS family. We keep these brave and beautiful boys in our hearts and hold fast to our hope for a treatment or cure for SRS.
Our hope is that the research underway will yield important information about SRS and that it will result in a treatment to alleviate the unwanted effects of SRS. There is an incredible amount of interest in researching SRS as it shares a chemical pathway that could be very important for treating many other diseases. The SRS researchers are brilliant and will undoubtedly improve the lives of people with SRS.
Rare Disease Day is important to me because it is a time when SRS, an ultra-rare disease, joins with many other rare diseases. Rare Disease Day creates a feeling of unity with a larger community with the same interests – treatments for diseases for which there are none, awareness of diseases that most have never heard of and relief from the isolation of having a rare disease. Rare Disease Day is a day when we realize there are many who seek to implement changes that will help us all reach our goals more quickly by working together. As a NORD member, the Foundation has experienced fantastic synergy in working across diseases groups. NORD facilitates this every day and Rare Disease Day showcases it.