Student shares struggle with rare disease

At 12 years old, I couldn’t walk without staggering as if I was intoxicated.

My mom had noticed my difficulty walking as early as 3 years old. I’d lose my balance and run into walls. A departure from my earlier toddler self. The symptoms only got worse as I aged.

Finally, before I was even a teenager, I could not stand without swaying, and I’d have to keep my feet apart to keep my balance.

It was about 2007 when doctors realized I had Friedreich’s Ataxia (also called FA).

For most people, minor symptoms of FA can begin between the ages of 5 and 15, said Kimberly Schadt, a nurse practitioner. However, most people are not diagnosed with it until they are 18 to 20.

Friedreich’s Ataxia leads to impaired muscle coordination (ataxia) that worsens over time, causing nervous system damage and movement issues. This disease, which affects one in 55,000 people, does not stop a person from leading a normal life.

Originally described in 1863 by the German neurologist and pathologist Nikolaus Friedreich, the disease is caused by defects (mutations) in the gene for the protein frataxin. Frataxin normally acts as a storage depot for iron, which releases only when needed. Genes are recipes for making proteins, which provide structure to our cells and drive a chemical reaction inside them. When the frataxin is missing, the iron consumption in the body is very high. The body cannot get rid of the iron easily. An FA patient is frataxin deficient which reduces nerve function.

Although there is not a cure or medication, research continues and there is hope for the future.

“People that have this disease can live a completely normal life if they have a healthy diet and exercise regularly,” said Kimberly Schadt, a nurse practitioner.

Mitochondria acts as an essential energy source for nearly all of the cells in our bodies, which probably explains why FA affects cells of the nervous system, heart, and sometimes other tissues.

FA also affects the function of the cerebellum, a structure at the back of the brain that helps plan and coordinate movements. When a person decides to move an arm, nerve cells in the brain send an electrical signal to the spinal cord, and the peripheral nerves pass the signal to the arm muscles. As the arm moves, the person can feel it moving because nerve cells send an electrical signal back through the peripheral nerves and up to the brain.

Early on, when a doctor would check the reflexes at my knee, I never had any movement. Which showed damage to my body’s electrical system.

In FA, this flow of sensory information through the peripheral nerves and the spinal cord is severely affected. There’s also some impairment of muscle-controlling signals from the cerebellum and spinal cord.

Dr. David Lynch is the leading Friedreich’s Ataxia specialist in the United States, located at CHOP (https://www.chop.edu) in Philadelphia. He has been working with FA patients for the last 25 years. Although he’s in the United States, some of his patients’ live-in other countries.

Out of 450 patients, “20 of my patients (are) from other countries,” Lynch said.

Schadt said: “I have worked with Dr. Lynch for 18 years. and I see 10 patients from another country. I also do the vitals and the initial exams on the patients.”

McKenzie Wells is a counselor who works with Lynch’s patients.

“I’ve been working with Dr. Lynch for 16 years, coordinating his clinical trials. I do the hand-eye coordination work upon patients during the clinic,” Wells said.

Friedreich’s Ataxia patients’ symptoms are completely different. But the heart is what is one of the muscles that is affected.

“The atrium is affected early,” Lynch said. “The ventricle stops working later.” The left ventricle hypertrophy is the dominating cardiac finding.

Dr. Holly Novack of Prairie Cardiovascular in Springfield works with me because of my diagnosis.

“Other symptoms that may occur include heart palpitations and shortness of breath,” Novack said. “These symptoms are the result of various forms of heart disease that often accompany Friedreich Ataxia, such as enlargement of the heart (hypertrophic cardiomyopathy), the formation of fiber-like material in the muscles of the heart (myocardial fibrosis) and heart failure. Cardiac magnetic resonance imaging (MRI) is used to watch hypertrophic cardiomyopathy. As a cardiologist, these are some of the things we have to look for.”

Beyond the heart issues, all viruses and infections can be especially hard for FA patients. With COVID-19, I have avoided leaving my home. Even with a cold, I can become sick for weeks, when most people are sick for just a few days.

“FA patients have low immune systems, so any viral or bacterial infections hit their system twice as hard as the normal person,” said Dr. Randy Western with Springfield Clinic. “So, I stay in the loop for annual visits, medications, or any needed visits.”

Because FA patients having low or no immune system, it means they get sick easier and the illness for them is twice as bad as a normal person. This is why those who have FA are overly cautious and try to stay away from anyone sick. Some even take certain medications that help strengthen their immune system.

I am hopeful that researchers will find a cure. For now, I’m hopeful that my condition does not worsen, although I know that’s not the case. This is a progressive disease.