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MEET GRAHAM AND RILEY - Living with Spinal Muscular Atrophy
By Christina McGairk
Two Families Share Their Story
Spinal muscular atrophy is a variety of neurodegenerative disease that affects a person’s ability to control their muscle movement because of nerve cell loss in the spinal cord and brain stem.
Spinal muscular atrophy, also known as SMA, causes muscle wasting and weakness, which makes it hard for a person with SMA to stand, walk, control their head movements, and sometimes difficulty with breathing and swallowing.
According to the SMA Foundation, spinal muscular atrophy affects 10,000–25,000 children and adults in the United States. It’s also estimated that at least 6 million Americans are SMA gene carriers.
There are 5 types of SMA – Type 0, Type 1, Type 2, Type 3, and Type 4.
Type 0 is a very rare type of SMA. The symptoms for this severe type include poor fetal movement a few weeks before birth, followed by severe weakness, and difficulty in breathing, feeding, and swallowing after birth. Babies who have this SMA type have a low survival rate.
Type 1, also called infantile onset or Werding-Hoffman disease, is the most common form and is usually detected between birth to 6 months. Babies with this type experience muscle weakness, trouble swallowing, coughing, and breathing distress. Some may also need a feeding tube.
Type 2, is diagnosed between the ages of 6–12 months. Symptoms for this type include progressive muscle weakness and delayed or missed milestones.
Type 3, also known as Kugelberg-Welander disease or juvenile SMA, is diagnosed between 18 months and three years, or even in one’s teenage years. Patients with this type have poor balance and may have difficulty standing from a lying or seated position due to muscle wasting.
Type 4, like Type 0, is also very rare, but not as severe. This type mildly affects a person’s motor mobility. It can be diagnosed at 18 years of age, but the diagnosis usually comes at age 35 or above.
Nick, Adrienne, Ben(11), Graham(6) and Lucy(9)
Adrienne Vollmer and her husband Nick recognized something wasn’t right with their son Graham at about 4 weeks old. “He was a weak baby, unable to move his legs or arms, and unable to nurse,” said Vollmer. The doctors didn’t seem too concerned, but when their precious son started having breathing difficulties, the Westfield couple sprung into action and took him to Riley Hospital for Children to see a specialist. After seeing a pediatrician, physical therapist, and pulmonologist, little Graham was referred to neurology for further testing. That’s when he received his official diagnosis of Type 1 Spinal Muscular Atrophy at 8 weeks old. The odds of surviving SMA Type 1 were very slim at the time. Unfortunately, there weren’t any treatments or cures for SMA at the time. Graham wasn’t expected to live past his 2nd birthday. “We were told to take him home and love him,” said Vollmer.
Graham, now 6 years old, has defied all the odds. He was a part of a clinical trial at a children’s hospital in Chicago where he received the treatment drug called nusinersen. Two years after Graham’s initial trial, the drug name was given the tradename Spinraza after meeting FDA approval. “The drug is given via lumbar puncture where they draw out spinal fluid and replace it with 5ml of the drug and is repeated every 4 months,” said Vollmer. The wife and mother of 3 also said the treatment helps the body to create more backup motor neurons, which slows down or even reverses muscle loss in SMA patients. “While it was an expensive price tag, we believe this drug saved Graham’s life.”
Riley
Riley Smith, a 19-yearold Indianapolis native, was also diagnosed with SMA Type 1, but on her 1st birthday. Like Graham’s parents, her Mom noticed a few signs that something wasn’t right with her child. “When I was a baby, I didn’t scream as loud as the other Riley babies,” said Smith. “She also noticed that my hip flexor movements had decreased after a few months.”
Smith also tried the SMA treatment drug Spinraza, but due to her severe scoliosis and rods in her back, it was extremely painful. “During the 2nd dose, the doctors were unable to give me the entire dose. So they decided I was unable to take Spinraza.”
Now she takes a new treatment called Evrysdi once a day by mouth. The medication was approved by the FDA in August 2020. According to the drug manufacturer website, Evrysdi is supposed to help make and maintain survival motor neuron protein, which allows the nerves and muscles to work properly.
Graham still needs assistance transferring between chairs and moving in and out of bed. He is also fed through a g-tube and requires airway clearance and respiratory treatments to make sure his lungs are clear. Riley has several health issues due to her SMA. She can’t move her hands to type and her voice is hard for people to understand. Yet, with the use of mobility aids and specialized devices, both Graham and Riley are still able to do some things independently. “In his power chair, he’s showing more independence as his head and neck control continues to improve and arm movement as well,” said Vollmer. Riley uses a Tobii Dynavox device, which generates speech through eye movement. She can also use the device to control her phone or computer with her eyes. “I am about to get a new power chair that I can control with my eyes,”
Even though both their lives are affected by SMA, there is no doubt that the love and support they receive from their family also carries them through. Riley has her mom, younger sister, and a wonderful nurse who helps her during the weekday. Graham has his parents and two older siblings, Ben (11) and Lucy (9).
Both Riley and Graham’s family are actively involved in Cure SMA, an organization that spreads awareness about spinal muscular atrophy, helps fund research on the disease, and provides support for families of individuals affected by SMA. Vollmer, who is also Cure SMA’s Indiana Chapter leader, spearheaded the effort to make SMA screening a requirement for all newborn babies in the state of Indiana. “We worked closely with our state representative and we were able to advocate at the statehouse and get “Graham’s Bill” passed, which requires screening of every newborn baby in the state of Indiana,” said Vollmer. “With early diagnosis and intervention, the path of the disease is distinctly altered and these children can live a next to normal life with little to no physical symptoms of SMA.”
Vollmer and her husband Nick knew they wanted to use their son’s story to educate and give back to the community. So they started an annual fundraiser event in 2017 in honor of Graham “The Cure SMA Walk for Graham brings about 800 local Westfield and surrounding area people, and is a great family-friendly event to help us spread awareness,” said Vollmer. “We have been able to bring in on average $100K per year.”
The walk went virtual due to COVID in 2020 but will be held this year at Coxhall Gardens in Carmel on Friday, August 20.
To learn more about SMA and about the Walk for Graham, please visit www.curesmal.org
