Kistler Helps Family Map Out Their Future
by Donna Payne
There is no roadmap for parenting. For many, it’s little more eventful than a casual Sunday drive with occasional potholes and pit stops. Other parents feel as if they are traveling at breakneck speed in a car with no steering wheel.
Jessica and Thomas Peavy are raising three girls: Allison, 14; Kristin, 12; and Cynthia, 5. He is an over-the-road truck driver and she is a clerk with the U.S. Postal Service. All three girls excel at an online virtual school at their home in Barling.
Sunday drive, right?
Things appeared that way to the Peavys also until they noticed Cynthia was not progressing physically. Even at a year old, she wasn’t crawling. “She wasn’t trying to stand,” Jessica said. “She wouldn’t support her weight. We had a walker and the only time she would use her legs was when she was in it. She would propel backward.”
In addition to her motor deficits, Cynthia required hospitalization with almost every respiratory illness. These were red flags for the three-time mom.
At 20 months old, blood tests revealed Cynthia has spinal muscular atrophy, a genetic disease affecting the part of the nervous system that controls voluntary muscle movement. Originally, the doctors thought Cynthia had the most severe form, type 1. Her mom got the doctor’s call at 6 p.m. on a Saturday.
“I knew this was fixing to be rough. I didn’t even know was SMA was,” Jessica said. “They told us there was nothing they could do. There was no treatment.”
Doing nothing wasn’t an option. While wrapping her mind around what she had heard, she also stepped on the accelerator, doing her own research on clinical trials. Her roadmap was filled with pushpins: Little Rock, Orlando, Dallas, Fort Worth.
Armed with new knowledge, she emailed a Dallas hospital involved in a clinical trial. A nurse called Jessica the next day and said, “Bring her down here.” Cynthia qualified for the trial and Jessica was handed a 30-page booklet to further educate herself. She took it home, read it, talked it over with Thomas and they quickly decided it was their best option – their only option. When Jessica called the clinic back, the enrollment was full.
For the next several months, Cynthia was followed by the medical team in Dallas as her mom and dad kept a close eye on the drug trial. The FDA approved the medication on Dec. 23, 2016, which also happens to be Cynthia’s sister’s birthday. The day after Christmas, Jessica said, “I was on the phone and said, ‘Let’s start it!’”
After filling out all the paperwork, the hospital put on the brakes because of the medication cost, limited insurance coverage and the strict criteria.
“I started looking for another hospital and had her ready to go to Orlando,” Jessica said. “I was going to drive her to Orlando to get the medicine and I found out Fort Worth had it. There was a doctor in Fort Worth who was dosing and she was his second child.”
Continued treatment with nusinersen is allowing many babies and children with SMA2 to reach and maintain age-appropriate developmental milestones, including sitting, crawling and walking. Breathing problems, nutrition problems and hospital admissions also decrease in general. The medication is administered every four months through a lumbar puncture and Cynthia has to be sedated. After a year, her mom said the difference has been major.
“When she gets it, it’s like you just gave her a Monster energy drink,” Jessica said. Cynthia no longer requires daily breathing treatments and the respiratory illnesses she had every three months or so – often pneumonia— are gone. But that’s just the beginning.
The Peavys started to look farther down the road. They knew quality physical therapy would be necessary for their 5-year-old to reach her potential. A co-worker told Jessica about The Gregory Kistler Center. After a tour, not only did Jessica and Thomas know it was the right place for Cynthia, she knew it.
“As soon as she saw that pool, that was it,” Jessica said. “She was in; she was ready.’’
The place and the people had the same effect on Jessica.
“They’re really just great people. I don’t think we would have stayed in this area if we hadn’t found it,” she said. “We would have packed up and moved to Texas.” Instead, they relocated to Barling to have easier access to the Kistler Center.
Cynthia has two appointments a week: one aquatic and one land. Thomas usually makes his days off during the week to be available and Jessica’s sister lives nearby and helps out. The older girls also play a role in making this family function. “It’s just a big team effort,” Jessica said.
Cynthia describes herself as “a kindergartener that does not take naps” and contributes her successful therapy to the “power of the unicorn.”
But her mom has another idea: the therapists at the Kistler Center.
“They have taught her a lot of things that I didn’t think were going to be possible,” she said. “Just simple things I didn’t think were going to happen. But they know how to teach her to do these things. It amazes me.”
“They’ve got that perfect middle ground, whereas a mom – if she says, ‘I don’t want to,’ it’s hard for me to convince her to.”
Access to equipment also is a big part of going to the Kistler Center. “It’s equipment I never even thought of before. I think she’ll be able to help take care of herself eventually.”
“Without therapy, I think I would be seeing the lungs part but not the legs part,” Jessica said. “Thanks to everybody here, she’s got hope that one day she’s going to be able to stand.”
Spinal Muscular Atrophy
What is spinal muscular atrophy?
Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement. Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease. SMA is muscular because its primary effect is on the muscles, which don’t receive signals from these nerve cells. Atrophy is the medical term for getting smaller, which is what generally happens to muscles when they are not active. SMA involves the loss of nerve cells called motor neurons in the spinal cord and is classified as a motor neuron disease.
In the most common form of SMA (chromosome 5 SMA, or SMN-related SMA), there is wide variability in age of onset, symptoms, and rate of progression. In order to account for these differences, the chromosome 5 SMA often is classified into types 1 through 4.
The age at which SMA symptoms begin roughly correlates with the degree to which motor function is affected. The earlier the age of onset, the greater the impact on motor function. Children who display symptoms at birth or in infancy typically have the lowest level of functioning (type 1). SMA onset in children (types 2 and 3), teens or adults (type 4), generally correlates with increasingly higher levels of motor function.
What are the symptoms of SMA?
SMA symptoms cover a broad spectrum ranging from mild to severe. The primary symptom of chromosome 5-related (SMN-related) SMA is weakness of the voluntary muscles. The muscles most affected are those closest to the center of the body, such as those of the shoulders, hips, thighs, and upper back. Special complications occur if the muscles used for breathing and swallowing are affected, resulting in abnormalities in these functions. If the muscles of the back weaken, spinal curvatures can develop.
There’s a great deal of variation in the age of onset and level of motor function achieved in chromosome 5-realges SMA. These are roughly correlated with how much functional SMN protein is present in the motor neurons, which in turn is correlated with how many SMN2 genes a person has. Sensory, mental, and emotional functioning are entirely normal in chromosome-5 SMA. Some forms of SMA are not linked to chromosome 5 or SMN deficiency. These forms vary greatly in severity and in the muscles most affected.
To learn more about SMA, go to https://www.mda.org/disease/spinal-muscular-atrophy.
“Spinal muscular atrophy.” Muscular Dystrophy Association
https://www.mda.org/disease/spinal-muscular-atrophy. Accessed 14 September 2018