Ed Schwartz remembers when he first started having problems with his balance.
“This started close to 20 years ago,” remembers Schwartz, 71, who lives in Venetia. “I would get up at night to go to the bathroom and fall.”
Doctors first told him his inner ear was out of balance and affecting his equilibrium. Through the years, other changes emerged. “It started out being one thing and then another and we treated each one of these things,” he said. “The restless legs, the lack of sleep, the breathing. All of those we treated individually and not until about two years ago did we see them as a single entity.”
That’s when Schwartz finally got a diagnosis that solved the medical mystery that had been vexing him for two decades. The diagnosis was ataxia, which comes from the Greek word for disorder. The National Ataxia Foundation says it’s a term used to describe a group of neurological disorders that cause problems with balance and coordinated movement. It may also affect vision, swallowing and speech. NAF Executive Director Michael Parents said, “An estimated 150,000 Americans are affected by different forms of ataxia which can be hereditary, sporadic or caused by trauma. Ataxia can strike anyone at any time regardless of age, gender or race. Unfortunately, getting a proper diagnosis can take years.” Parent says that process involves a complete neurological examination, MRI, family history and gene testing.
What causes ataxia?
Ataxia can be a symptom of a number of neurological conditions or caused by an injury or environmental factors. NAF research shows about 50 percent inherit the condition with a gene defect or mutation and another 25 percent can attribute their disability to a known cause, such as a stroke or head trauma. The remainder may never know the cause for their condition.
Schwartz fits into the last category and said the final clue to his condition came with an MRI, which confirmed atrophy of his cerebellum. “Walking is difficult,” he admitted. “I walk with a wide gait. I fall regularly. I wear a special vest that is designed to help me counteract problems.” That vest holds 10 pounds of weights specially designed to counterbalance him.
Neuropathy contributes to his unsteadiness and has also weakened his grip. The retired engineer is still productive in his garage workshop but has had to make adjustments. “I used to like to work on cars,” he said. “There’s no way I could reach under a fender and try to turn a nut now.”
Other symptoms include difficulty sleeping and sleep apnea, which he’s controlling with a C-PAP breathing machine. All of this has been a challenge for Schwartz and his wife, Linda, who will celebrate their 50th wedding anniversary this summer. But both are avid researchers and found evidence that many ataxia patients also suffer from gluten intolerance. Schwartz eliminated gluten from his diet and says he noticed immediate improvement in digestion and his restless leg syndrome.
Providing resources and support
For those who are diagnosed, the NAF provides help and support.
“Not only does the foundation support worldwide ataxia research to help find treatments and ultimately a cure,” said Parent, “but it offers ataxia publications for physicians as well as attends various medical conferences to help better inform the medical community about ataxia.”
The foundation offers support groups for families, including one here in Western Pennsylvania. Donna Eiben of South Park started the local chapter two years ago. “We have less than 10 members in our group and Ed was the first member,” she said. Hereditary ataxia runs in Eiben’s family and five members have been affected.
“It has been a very difficult life for me and as far as I know I am not affected,” said Eiben. “There was no support group in my area and I decided we needed one here. It has been helpful for me and others in the group to share our experiences and feelings and feel that we are not alone.”
For Ed Schwartz, finally having a correct diagnosis has given him peace of mind. He gets physical therapy twice weekly to focus on eye exercises, balance and walking. His dietary changes have also helped alleviate symptoms.
“I’ve gotten so I can stand now, I can walk now and that is so significant,” he said.
“Thank goodness I know what it’s about now,” he continued. “I don’t like it but I know what it is and I’m learning more and more all the time. I have set a personal mission to tell as many people about this as I possibly can.”
Schwartz advised others to be their own advocates and wants to increase ataxia awareness. “I want to somehow get into the medical community and let these people understand what the symptoms are and what to look for so that when someone comes in with this they can recognize it and start helping them.”
More information is available at www.ataxia.org.