SALT LAKE CITY (ABC 4 News) New hope for and end to a disease that kills babies before the age of two. In severe cases of Spinal Muscular Atrophy, nerves stop working, muscles weaken, and children die. University of Utah researchers have found new treatments that can help.
Brynlee Liston is two years old, a medical miracle. Her mother Tara says” when she was diagnosed they told us that she probably wouldn’t make it to two. She’s almost thee now, and it’s just amazing.”
Brynlee has Type One Spinal Muscular Atrophy, which is the most severe form. She was diagnosed when she was five months old. Dr. Kathryn Swoboda, from University of Utah Neurosciences, says “by six months they have lost their ability to lift their arms up off the bed, to kick their legs. By a year, virtually all of them have lost their swallow. They have to have G tubes and they are never able to sit without support.”
But Brynlee can sit by herself and more. “She is able to use her hands, and she can actually communicate, she can talk. A majority of Type One’s can’t communicate. They are sort of trapped in their bodies.” Dr. Swoboda says.
She says the reason Brynlee is different is likely because of a clinical trial done at the University of Utah and seven other institutions across the country. Forty-two children with SMA were given a drug more commonly used to treat epilepsy. Dr. Swoboda says “it’s a special kind of medication that can actually regulate certain genes.”
Dr. Swoboda says it’s just one of five therapies for SMA currently being studied. Not all have proven effective for all children. “There are clearly kids that respond and kids that don’t respond. But the kids that respond have done well.” She says they have also learned in their studies of SMA treatments that time is factor. The earlier diagnosis is made, and treatment begins, the more effective it appears to be. “They are normal until the disease starts to progress so if we can intervene with some of these exciting therapies early on, we can probably cure, and that’s not something I say lightly.”
