November 2017 Writer / Janelle Morrison Photography / Matthew Doudt and Courtesy of the Vollmer family What is Spinal Muscular Atrophy (SMA)? SMA is a disease that takes away a person’s ability to walk, eat or breathe. This genetic disorder affects the motor nerve cells in the spinal cord and is the number one genetic cause of death for infants. According to Cure SMA, SMA affects approximately 1 in 11,000 babies and can affect any race or gender. Approximately 1 in every 50 Americans is a genetic carrier for SMA. Because it is a recessive condition, generally both parents must be carriers for a child to inherit the condition. Individuals can be tested to see if they are a genetic carrier. Cure SMA is a national organization that has directed and invested in comprehensive research that has shaped the scientific community’s understanding of SMA since 1984. Is there a cure? At this time, there is no cure for SMA, but in December 2016, the FDA announced it had approved SPINRAZA®, the first-ever approved therapy for SMA. Ongoing research has shown that beginning therapy as early as possible is critical. Studies indicate the SPINRAZA® therapy is most effective when it can begin in the first few months of life before significant motor neuron loss occurs. Furthermore, this research reinforces the need for newborn screening, which would eliminate long and costly diagnostic delays and allow pre-symptomatic therapy. Currently, SMA is not included in the standard newborn screening process, but State Representatives Doug Gutwein and Donna Schaibley, along with local SMA families and researchers, are working to pass a bill for SMA to be included in the state newborn screening. Schaibley is a Carmel resident and advocate for her constituents with SMA. When the legislative session begins in January, Gutwein and Schaibley will take the issue to the floor. Why is newborn screening for SMA a matter for the State? Unlike federal advocacy, legislation usually moves quicker at the state level. Legislative sessions can be much shorter, and if there isn’t any political gridlock, it can be easy to pass legislation through. In the case of SMA patients, time is of the essence. One of the faces of SMA who has already made an impressionable difference at the statehouse is 2-year-old Graham Vollmer who, along with his family and the aforementioned State Representatives, is shining a light on the awareness of SMA, and more importantly, the need to add to the state newborn screenings in order to provide life-improving therapies. We were honored to meet little Graham Vollmer at Riley Hospital for Children. Vollmer was being treated for pneumonia after battling it for more than four weeks. His mother, Adrienne, was gracious to allow us visitation to discuss what life is like for the Vollmer family, living 24/7 with SMA. “Graham turned 2 in May, and with SMA Type 1, 90 percent of children don’t make to their second birthday,” Adrienne shared. “That type of statistic, I think, will change over the coming years with the treatments that are now available. Historically speaking, children were diagnosed with no treatment and no cure, so the best thing to do was to help them have breathing support and do respiratory treatments. Even with those types of intervention, the children would eventually go into respiratory failure.” There are four types of SMA – I, II, III and IV – based on the age of onset and the highest physical milestone achieved. Type I is the most severe and most common, typically diagnosed during an infant’s first six months and is often fatal early on in life. Individuals with SMA have difficulty performing the basic functions of life; however, SMA does not affect a person’s ability to think, learn and build relationships with others. “When Graham was diagnosed at 8 weeks old, SPINRAZA® was still in a clinical trial phase,” Adrienne said. “Our neurologist, who diagnosed Graham, didn’t present it as an option. We had to go searching for options. We were told when he was diagnosed to take him home and love him and that we would be meeting with the pulmonologist, but there is no cure and no treatment . We were given all of the statistics pointing towards Graham not surviving past the age of 2.” Adrienne and her husband, Nick, found the then-clinical trial for SPINRAZA® and made the difficult decision to go forward for the sake of improving their son’s quality of life with the hope of increasing the length of his life. “At that point, we were like, ‘What did we have to lose?’ You already know that your child’s prognosis is not likely to live past the age of 2. Being given zero options is devastating, but if you are given one chance to do something, you’re going to do it. I would really find it hard to meet a parent out there that would get a diagnosis like this with this one available treatment option and not choose to do it. “Graham is beating the odds every day that he survives past the age of 2. We don’t know if he’s going to be with us another three years, five years, 10, 20. I just don’t really think about it a whole lot because this treatment drug is breaking new ground. We are just glad that we can have him here with us, and that makes it worth it, in our opinion.” Sara Custer, Ph.D., is a Zionsville resident and research assistant professor at the Indiana University School of Medicine. “I have a Ph.D. from the University of Washington in Neurobiology and Behavior, and throughout my career, I have studied hereditary neurodegenerative diseases,” Custer said. Sara Custer, Ph.D. “Since I moved to Indiana, I have switched to exclusively looking at SMA. SMA is the leading genetic cause of infant mortality in the United States and has been around for hundreds of years. It’s basically Amyotrophic Lateral Sclerosis (ALS) in babies. One in 40 people in the United States are carriers. There a quite a few people who can be a carrier. If two carriers have children, there is a one in four chance of producing an SMA baby. Most people find out they are carriers only when they have an SMA baby. Now, both parents can be carriers and not have children with SMA. That is totally possible. But with every live birth, it’s a 25 percent chance. There are families with no children with SMA, and there are families where all of the children have SMA, including some with twins.” Custer said SMA symptoms usually present between 6 weeks and 3 months after birth. The pediatricians recognize it as “floppy baby syndrome.” It’s a rapid onset of loss of muscle tone in the arms and legs. SMA has rather distinct physical symptoms but is confirmed, genetically, in clinics. The infants are placed on a feeding tube pretty much immediately and will end up requiring respiratory intervention fairly early in their lives. SMA patients require 24/7 care. In addition to her research, Custer is an advocate for SMA newborn screening. She is hopeful legislators will soon adopt the bill that will be presented by State Representatives Gutwein and Schaibley at the upcoming legislative session on behalf of children like Graham Vollmer and all of the other young faces of SMA in the state of Indiana. Custer concluded, “I hope that soon, we’ll be an example for other states and encourage global adoption of SMA to newborn screening panels.” For more information on Cure SMA, research and treatments, visit cureSMA.org/newbornscreening. To follow or become an advocate for SMA newborn screening in Indiana, follow the Indiana SMA Newborn Screening Coalition on Facebook.