“Friedreich’s ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function.”
The statement above is not what you want to hear from your doctor. If it sounds serious, you are correct — it’s very serious.
A Slater family has been living with this diagnosis for their daughter, and it doesn’t get easier with the years.
Fifteen-year-old Abby Johnson, a sophomore at Ballard High School, has Friedreich’s ataxia. Her classmates have been her friends since they all started kindergarten together. Abby loves school, and her teachers.
“School is really fun,” she tells. “I have really nice teachers that are both helpful and supportive of me.”
Abby has had a very active life…so far. She lives in Slater with her parents, Amanda and Seth Bailey. She has two younger brothers. She loves art and choir and in particular, show choir. For now, show choir in her life has been put on hold.
Recently, Abby has slowed down. Mom Amanda explains just what has happened.
“When Abby was 11 and 12 years old, we noticed that she was clumsy, always tripping over her own feet,” explained Amanda. “By the time she was 13, it was even worse. She would run into walls, and one fall produced a fractured wrist. At her checkup, I asked if that was normal. But it wasn’t until she was 14 that she was falling into everything.
Abby was then sent to a neurologist in Des Moines, where tests and an MRI were run. Amanda knew that something was really wrong.
“We were sent to the Mayo Clinic in Minnesota where some genetic testing was done,” said Amanda. “Abby was diagnosed with Friedreich’s ataxia.”
Amanda explained that it is a neuromuscular disorder, something that Abby has always had, where the symptoms present themselves anytime between the age of five and 15. One in 50,000 people has the disease, which involves both parents being a carrier.
“We had no clue that I was a carrier as well as Abby’s father,” said Amanda.
Amanda explained that Friedreich’s ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs; muscle stiffness (spasticity); and impaired speech, hearing, and vision. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle and can be life-threatening. Some affected individuals develop diabetes or an abnormal curvature of the spine.
A lot to deal with, but even more frightening to hear is that life expectancy is 30 to 40 years and there is no cure.
Abby receives therapy — consisting of physical therapy for strengthening her muscles.
“If my muscles are stronger, the disease has a harder time attacking them,” said Abby. “I also am working with occupational therapist to improve my fine motor skills. I love to draw and I love art class at school, so my art is great therapy.”
Although there is no cure, there is research taking place. Amanda explained that currently there are four clinical trials taking place at the University of Iowa Hospitals in Iowa City and two more at the Mayo Clinic.
It was just last week that Abby started walking with a walker. She said that she was concerned how the students at Ballard High School would react to her new necessity in order to get to and from classes.
“The MDA stepped in and helped us out,” told Amanda. “The Muscular Dystrophy Association came to our house and produced a video that was shown to the student body and teachers at school. We are hoping that this helps explains to everyone what is going on with Abby and why the need for a walker.”
Medicine is not an option for Abby; there isn’t any that can be used for treatment.
“There isn’t medicine that Abby can use to help her,” tells Amanda. “But our hope is that we can spread awareness to help with a cure as well as treatment. Abby tires easily, it would be nice to have something to help with her energy level. There is nothing that can help with the symptoms.”
Abby has hope as well.
“I have some hopeful thoughts,” she explained. “With more people being affected by this, I am hopeful that there will someday be something that will help. I also hope that if people see me on the street or at school using my walker that they won’t treat me different. I am like any other person — my muscles may be dying on me, but my personality is not. My new walker is just an extension of my body now. In time, I might have to be in a wheelchair or I might not. It will just be my way of getting around.”
“This is not easy,” tells Amanda. “She was a child that was able to run around for the past 13 years and now all of a sudden she can’t even walk. It’s a struggle for Abby to do things. When most mothers are teaching their children at this age to drive a car, I am teaching Abby how to use her walker.
When asked, Abby responded to what she will see herself doing five years from now.
“I will be five years older, so I will be 20 years old,” she commented. “I would hope to be in college, probably at Iowa State, and I will be majoring in and enjoying music and the arts. I hope that means that I would have graduated from Ballard High School and that I would have walked across the stage, on my own, to receive my diploma.”
Fighting through depression with the help of Dan and Phil on YouTube, love from her family, therapy from ChildServe and a trip to the nation’s capital this summer has helped to keep this 15-year-old on the right track.
Next hurdle to cross?
“Our house is not handicap-accessible,” tells Amanda. “That will be the next obstacle that we will have to take care of.”
And that video that was shown at school. According to Amanda, there was very good feedback about it after it was aired. She said that Abby was anxious while it was airing, but felt good about it. She thinks her peers have questions, but don’t know how to ask.
Like Abby said in her own words, to not treat her different. Same friend and classmate, just more difficulty getting around.