Snyder-Robinson Syndrome

What does a cure for SRS mean? When we talk about “curing” or “finding a treatment for” Snyder-Robinson syndrome (SRS), we mean specifically finding a remedy that will alleviate the medical complexities and symptoms caused by SRS. SRS is caused by a mutation in the SMS gene, which renders the gene unable to do its job of converting an enzyme in the polyamine pathway. The result is an imbalance of polyamines in people with SRS, which wreaks havoc on their bodies. Polyamines are present in every living organism. Polyamines are necessary for normal growth and development. When the polyamines are not functioning, survival is impeded in animal models. For example, in one study, very few fruit fly larvae with SRS survive. The few that survive are not able to climb, and stay at the bottom of the tube. Their survival is limited. Maybe it’s not surprising that very few people have been diagnosed with SRS worldwide. One of our advisors said that living without the essential balance of polyamines is a disease that is “not compatible with life.” There is a dearth of information about SRS, which means that it is impossible to know what a prognosis is until SRS is studied further and a natural history study is done. My son Connor was the 21st person ever in the world to receive a diagnosis of SRS. Since that time, a total of 66 people have been diagnosed with SRS worldwide. The Snyder-Robinson Foundation (SRF) has implemented a natural history study that is already changing the description of SRS and will continue to do so as more people participate. Additionally, the research studies funded by the Million Dollar Bike Ride, the SRF in the last three years are illuminating the disease pathway of SRS. Other studies, including one being done by the Jackson Labs, are creating SRS animal models to better understand SRS and its phenotype. In a drastically oversimplified explanation. What is understood about SRS is that the nonfunctioning SMS gene does not convert spermidine into spermine, which results in too much spermidine and not enough spermine in the cells. This imbalance creates a toxicity, and many bodily systems cannot develop normally under these circumstances. SRS is neurodegenerative. The nervous system is compromised, including the brain, and the signals the nerves send to muscles, which results in epilepsy and hypotonia for people living with SRS. Many people with SRS are not able walk, talk, or eat by mouth or do so with difficulty. Gross motor and fine motor skills are hampered and result in developmental delays. The brain suffers insult which results in intellectual disability. The development of the skeletal system is also impaired, resulting in low bone density, osteoporosis, scoliosis, and/or kyphosis. Many people with SRS have kyphoscoliosis and require intervention or oxygen to be able to breath when their internal organs become compressed due to the severity of the problem. People with SRS frequently experience broken bones, especially of the arms and legs, without a traumatic event. Other bodily systems are also compromised by the imbalance of polyamines and resulting oxidative stress. The gastrointestinal tract also is impacted, and gastroparalysis, constipation, and other severe disorders can result in the need for J/G tubes to get enough nutrition. Many people with SRS have serious respiratory problems. Some have kidney issues. The SRS Natural History Study is revealing other systems that do not function adequately because they are impaired by the polyamine imbalance. This is what a cure for SRS means to me: I wake up every morning not knowing if I will open Connor’s bedroom door and find him awake and happy or immobile and nonresponsive. When I have found him nonresponsive, his temperature was 95 degrees, he couldn’t talk or sit up, and it took all day for him to get back to his baseline. We were told he was in a post-ictal state, most likely after having a nocturnal seizure. His erratic EEG indicates he’s at risk for a multifocal seizure, so he takes anti-seizure medication twice a day. If SRS is cured, I would let Connor sleep through the night without constantly watching for a seizure. My heart would not sink when I walk into his bedroom in the morning and find him asleep, afraid to wake him up. If SRS is cured, I would not learn of any family losing their treasured child during the night to a seizure or unexplained event. This is what a treatment for SRS means to me: I try to make sure that Connor’s every move is guarded to prevent him from breaking a bone. With bone density that is far below even the bell curve for osteoporosis, he is at risk of breaking his bones from a simple fall. Before Connor’s SRS diagnosis, he suffered a fractured skull (and brain bleed), broken feet and a broken arm. Since his diagnosis, Connor’s already limited activities were severely restricted. He is no longer able to do recreational skiing, which he loved, therapeutic riding, which he also loved, and simple things like walk in the hallway during dismissal time with his peers. To prevent further demineralization of his bones, Connor has infusions of bisphosphonates every three months. The infusions make him feel nauseated, cause bone pain and fever. However, we don’t even know if the infusions are helping his bone density. His spinal compression fractures were getting worse. His doctor explained that she only had one tool in her toolbox to combat his spinal collapse, so we elected to try it. He gets infusions meant for elderly women with post-menopausal osteoporosis. Connor is a child with a disease that is poorly understood, for which there is no treatment. We could be unknowingly exposing his bones to greater harm by using a treatment that may worsen his condition. If we find a treatment for SRS, we would know it would be effective at helping the osteoporosis caused by SRS, and we could protect people from SRS from the horrible pain and suffering caused by multiple broken bones. I selected Connor’s seizure disorder and his osteoporosis as examples of some challenges people with SRS have. I want to emphasize that these challenges pale in comparison to the challenges other people with SRS face. Because Connor is my child, I can describe these well from my first-hand observations. What I have heard from other parents who watch their children suffer is at times harrowing and heart-breaking. If you had a child who you saw struggling in the water and didn’t know whether they were able to swim, would you try to rescue the child? Would you get them a life vest? Dive in and save them? When we say we want to #CureSRS, it means that we want to put a life vest on our children and if that doesn’t work, we’re diving in. We realize that no one knows what fate holds in store for any of us. But we want to give our children a fighting chance. That’s it. Any parent would want to remove these horrible obstacles from their children’s lives. Our life vest happens to take years to create and the help of many people to accomplish in the shape of research, donations to fund the research, and a community of people coming together to make it happen. We are diving in. #CureSRS does not mean: Alleviating the complex medical issues from people with SRS would not change what we love about our ‘SRS Stars.’ Connor has become, through all the trials his body and spirit has endured, a fiercely determined person. He worked so hard to be able to walk when he was younger. Though he had many setbacks, he took his first steps and the look of joy on his face was indelible. Though he wasn’t able to talk much at the time and tell us, we could tell he was proud of what he had accomplished – he had managed to go from not being able to lift up his head to standing up and walking over the course of almost five years. In so doing, he had to overcome not only his low muscle tone, but his overwhelming fear of getting hurt. Connor has the ability to look through the difficult and painful experiences and see the bright side. When he finds out we are going to spend the day at the hospital, he looks forward to the ice cream he will have afterwards and never mentions the pain and discomfort that he will feel while he’s there. He has a wonderful sense of humor and is able to bond with many people telling jokes and he warms their hearts with his laughter. He has impeccable manners that charm even the most grumpy person. Sometimes, Connor catches me off guard and thanks me for being such a “good carer” for him. He frequently tells me that I’m the “best mom a boy could ever have.” Connor is empathetic and able to understand the right thing to say to lift a person’s spirits. Connor has a capacity for love that is remarkable. He frequently expresses his love without reservation. He worries when other people are sad or hurt and tries to make them feel better. He compliments people and makes them feel happy because it’s so often unexpected and it’s always appreciated. For example, he once told a nurse who was administering his medication that she was “doing a great job.” She was so taken aback and tickled by his comment that she told me it made her not-so-good day much better. Connor is not able to participate in most physical activities because he is not able to run, jump, climb, hop, swim, etc. He often remains on the sidelines while other children run and play, jump and swim in the pool. Connor has never once felt sorry for himself for his body’s limitations. He does not complain. He sits and claps and laughs when he sees the children playing. Recently, he was very sick with the flu and he, for the first time, expressed his unhappiness with feeling so poorly. He said, “I wouldn’t have chosen this for myself.” None of this would change if there is a cure for SRS. I believe that Connor’s spirit has been challenged by his body’s limitations, and that it has risen to meet the challenges. I want to #CureSRS because I want my son to stick around for as long as he can. I want to put a life vest on my son and all the people who ever have been or who ever will be diagnosed with SRS. I am diving in.

I recently watched the movie “Extraordinary Measures,” which is based on a true story about a family desperately searching for a cure for their children’s rare disease. I was riveted by how closely the plot mirrored my experience as a parent of a child with a rare disease. Although the entire movie resonated with me, one scene clearly illuminated a moment that I have not yet allowed myself to envision: the moment they know the treatment is working. My son was diagnosed with Snyder-Robinson syndrome (SRS) when he was 5.5 years old, in the spring of 2013. Upon his diagnosis, his geneticist handed us a short summary of SRS. The small bit of information we received that day somewhat calmed my fears about our son’s prognosis because we were familiar with the disease as it presented in him. We already knew he had global developmental delays, difficulty walking and talking, seizures, and a few other medical issues. Although we did not know about his severe osteoporosis, our son had already broken his feet, his arm and his skull, so it wasn’t too surprising. What was absolutely shocking, however, was that at the time of his diagnosis there were only 11 other people in the world who had been diagnosed with SRS. We got home from that appointment and immediately began to research SRS. To our surprise, we found several medical journal articles on SRS and we read every one. We quickly learned that there were a few researchers interested in SRS and that they were in contact with the other families across the world. That summer, we were able to visit some of those doctors and researchers, and to connect with the other two families diagnosed with SRS in the US. Within a year, the parents of six boys diagnosed with SRS formed the Snyder-Robinson Foundation (SRF). Our mission was to advance medical and scientific research of SRS. Three years later, the SRF has helped to fund four SRS research grants and a pre-doctoral fellowship and we’ve launched a natural history study (NHS). The SRF also was able to, through its website and social media, bring people with SRS together from all over the world. There are now approximately 50 people diagnosed with SRS in over 16 countries. Initially, I failed to grasp that my son’s life expectancy may be different than anyone else’s. With so few people ever to be diagnosed, and only a handful ever followed or studied, a prognosis for SRS was impossible. I am slowly beginning to understand that my son’s challenges in life are enormous — he has a degenerative disease which is not well understood and for which no treatment or cure currently exists. I witness the battles most of the children wage with SRS, daily sometimes, to stay alive. I’ve seen the unfathomable heartbreak when they lose their battle. Like the disease in “Extraordinary Measures,” SRS is an ultra-rare monogenetic disease. Both diseases are caused by a mutation in a gene, albeit a different one, that results in the failure to produce a critical enzyme, leading to multi-systemic cellular degeneration. A key difference is that, unlike Pompe disease, SRS has no clearly delineated prognosis. However, current SRS research in fruit fly and mouse models indicates that sudden death occurs frequently and inexplicably. As I began to absorb this new information, I watched “Extraordinary Measures.” I found so many scenes in the movie fascinating. The family upends their lives to pursue a cure for their children, who were both nearing the end of their shortened lifespans. Their urgency was motivated by the lethal disease, with little time to spare. As I witnessed the steps necessary to develop a treatment for Pompe disease, I was in awe at what a colossal undertaking finding a treatment was for the researchers and the family. Towards the end of the movie, there is a scene in which their children receive the enzyme therapy for the first time. Watching this scene was transformative for me. I was in tears, knowing exactly how I’d feel if that were my child in the hospital bed and I realized for the first time that the treatment was working. I wept with joy for the parents and their children. I realized that, though I’ve been working side by side with other parents of children with SRS toward our common goal of a treatment or cure, I hadn’t allowed myself to really imagine what it will be like when that day arrives. Perhaps this is because there are so many hurdles to overcome to get there. Funding research for a disease so rare is daunting, running a foundation with all-parent volunteers can feel Herculean when we are also caring for children with complex medical needs, and finding researchers can be formidable. The enormous step of developing a treatment and conducting trials still seems a far-away dream. And yet our hope continues because, despite these challenges, we are making significant progress. We have many incredibly dedicated and brilliant researchers who are studying SRS from several angles. I can now somewhat imagine a day that we will rejoice in the fact that people with SRS will no longer struggle in the myriad of ways that I’ve seen them struggle. These beautiful, brave children, whom I have come to love like my family, and children diagnosed with SRS in the future, may actually have the chance to overcome this devastating disease. We are trying our best, and our collective effort is also extraordinary and may one day make a difference in so many lives. For now, I have to believe we will be so fortunate. For now, I must hold onto hope. We want to hear your story. Become a Mighty contributor here . Getty Images photo via Shinyfamily

A new pest control company came today to give an estimate. My son and I were the only ones home at the time. My son is 8 years old and was born with a rare genetic condition called Snyder-Robinson syndrome. Fewer than 30 people have ever diagnosed with this disease. I usually do not explain to strangers how or why my son is different than almost everyone on the planet. A man in his late 50’s named Tyrone came to the door and I immediately felt relief because he was very personable and seemed very understanding of our dog’s out-of-control reaction to strangers. I had done my best to make sure my son was occupied so I could talk to Tyrone about our pests. However, it wasn’t long before my son was asking for various things, and then attempted to go up the stairs without assistance. I instantly rushed to my son to help him up the stairs, apologizing as I left Tyrone alone in the kitchen. Tyrone told me to please take care of my son, adding that he didn’t mind waiting at all. It’s not that I felt I had to explain, but I did. My son can’t safely go up stairs by himself because he is unsteady when he walks, and if he falls he can break (and has broken) his bones. After about five minutes, I was able to settle my son in his activity chair with a snack and his drink. Tyrone and I spoke uninterrupted for about three minutes. I heard a crash from the adjoining room, and saw that my son’s snack was scattered on the floor. He then broke his glasses (which is why they have flexible frames), popped the lenses out and was loudly telling me he couldn’t see. Tyrone waited patiently again while I attended to my son. Afterward, we wrapped up our pest conversation and I signed the contract for pest services. When he was about to leave, Tyrone turned to me and said: “I admire what you’re doing for your son. I turn on the TV and see such sad things every day. People having to bury their loved ones. I recently decided that I would praise people when I admire them. You are giving him a beautiful life. You may not realize it now, but one day you will see what a good thing you are doing. I am close to tears, but I need to tell you. You don’t know how many homes I go to where the parents just throw money at their children and think they’ll turn out OK. You are making a difference.” He really was close to tears and so was I. I wanted to hug him, but thought that may not be appropriate. I wanted to tell him how much his words meant to me, so I did. I will always look back on that moment as a ray of sunshine in my life, when a stranger came into my house, got a glimpse of what goes on day in and day out, and praised my husband and me for doing what I wish to believe any parent would do for their children – love them unconditionally, take care of their needs, and try to keep them safe and happy. One of my son’s best friends is a stuffed animal named Tyrone from “The Backyardigans.” He’s got great intuition.

I have three children– boy, girl, boy. The oldest is 13. When he was 8, we moved him a few miles from his home into a new home. His bedroom in the new home is adjacent to a cemetery that’s over 200 years old. My older son hadn’t wanted to move. He didn’t want to leave his friends, his school, his neighborhood or his old bedroom. And now, in the new house, he was too afraid to go to his room by himself. He knew the reason we moved to this strange house that came with a cemetery — his little brother can’t walk. There was something wrong with his little brother, but no one knew what it was. Moving to a house that had no stairs would make it easier for his parents to move his brother from place to place. The swimming pool was good for his little brother’s muscles and may even help him to be able to walk one day. He accepted that explanation, but he didn’t welcome the changes. Five years later, we know that my youngest son has an impossibly rare genetic condition called Snyder-Robinson syndrome. As a result, he has an intellectual disability, difficulty walking and talking, seizures, severe osteoporosis, vision problems and sensory issues. There are not many places he likes to go, and many things are not safe for him to do because he’s so breakable. He requires constant supervision. He has time-consuming daily care needs, such as feeding, dressing, bathing and many therapy sessions. Most likely, he’ll always require this level of care. I’m well aware of the sacrifices my older children make for their little brother. I know they can’t do many of the things they see their friends doing. As a family, we rarely go to restaurants, vacations are few and far between, simple outings like to a movie don’t happen often. My children have come to understand that it’s the way it is, and they don’t often complain about the lack of luxuries in their lives. And it is, of course, not just the luxuries they miss; it’s many of the simple things. They’ve learned to do a lot on their own and only ask for help only when absolutely necessary. As their mother, I often swim in guilt. I wonder whether my older children are being scarred forever because their needs pretty much have to come after their brother’s needs in almost every situation. Sometimes one of my children will do something that stops me in my tracks, dispelling the guilt. The other morning I woke up and realized I couldn’t hear or see my youngest son on the monitor. Fear set in quickly — what if he had another seizure that left him unresponsive, or, God forbid, he might have somehow fallen out of his bed. He sleeps in a Sleep Safe bed, with railings that are high so he won’t fall and break his bones. But he’s grown a lot lately, and I’m not entirely sure he couldn’t flip out of his bed. I sprinted to his room. Almost there, I stopped, literally, in my tracks. I saw my older son sitting with my youngest son on the couch in the living room. Side by side, looking at an iPad. They didn’t notice me standing there staring with my mouth agape. Instead of finding the horrific scene I was dreading, I found a tranquil, peaceful, beautiful one. My older son looked up and saw me and said, “I got him out of bed so you could sleep a little longer. We’ve been playing on the iPad.” Many thoughts crossed my mind at this point. Like, how did he manage to get that 65-pound, more than 4-foot-tall boy with breakable bones safely out of his bed when I can barely manage it myself anymore? I was happy no one hurt. Then I felt gratitude because sleeping a little longer than usual is a gift I haven’t really experienced in quite some time. Finally, there was this sneaking thought that entered my mind. My 13-year-old son didn’t look scarred. He looked to me, instead, like a mature, competent person. He looked like a person full of love for his brother, with compassion for his mother, totally in control of the situation. For all of February, The Mighty is asking its readers the following: Describe the moment a stranger — or someone you don’t know very well — showed you or a loved one incredible love. No gesture is too small! If you’d like to participate, please send a blog post to community@themighty.com. Please  include a photo for the piece, a photo of yourself and 1-2 sentence bio. Want to end the stigma around disability? Like us on Facebook. And sign up for what we hope will be your favorite thing to read at night.