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Strength in numbers
dbachman@observer-reporter.com
Pam Galiotto was diagnosed with polio in 1954, and for much of her 57 years, she has prided herself on the fact she never had to wear leg braces.
That changed, however, in 1996, when she began to experience weakness in her left leg. Even though the polio had affected her right side, doctors nevertheless said she was suffering from post-polio syndrome, and they prescribed ankle orthotics.
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Then she broke her toe, and when she told the orthopedic surgeon she had numbness in her foot, he became concerned, telling her that wasn't natural.
Nerve conduction tests confirmed he was right, and Galiotto's diagnosis was changed to Charcot-Marie-Tooth disorder.
"It was really an emotional adjustment to wear the supports," said Galiotto, who resides in Charleroi. "For at least two years, I camouflaged them. I wasn't ready to accept the story of my life that I was being led to lead.
"I'm a polio survivor. I kind of got out of it unscathed. Now, I'm dealing with a condition nobody's heard of, and they're telling me nothing can be done."
At least not yet.
Charcot-Marie-Tooth disorder, named for the three physicians who discovered the disease in 1886, is a genetic disorder in which nerves leading to the extremities slowly degenerate, causing muscle atrophy and leading to deformities in the lower legs, feet, arms and hands. It is often misdiagnosed and misunderstood.
While atrophied muscles cannot be restored, exercising and strengthening the surrounding muscles not affected by the disorder can help patients maintain mobility. The disease is believed to affect one out of every 2,500 people.
To better track the disease, the CMT Association teamed up with the John P. Murtha Neuroscience and Pain Institute in Johnstown late last year to conduct the nation's first comprehensive CMT Prevalence Study. The study, made possible by a grant from the Pennsylvania Legislature, is being conducted in eight counties: Allegheny, Bedford, Blair, Cambria, Clearfield, Indiana, Somerset and Westmoreland.
In addition, CMTA also has entered into an Accelerated Research Collaboration with researchers and scientists around the world. The goal is to find a cure within 10 years.
"The Accelerated Research Collaboration represents a gigantic step in the ongoing battle against CMT," said Charles Hagins, executive director of CMTA. "It represents a new and concerted effort to find out more about CMT's causes, and it provides hope for patients and their families that new treatments and an ultimate cure may be on the horizon."
An active person by nature, Galiotto has been forced to take life a little easier.
"The challenge is walking without tripping," Galiotto aid. "Occasionally I'll walk long distances, but if it's an uneven surface, I'll use a cane."
Since she tends to wobble, she avoids stairs as much as she can - and leans on Tim, her husband of 35 years - and she suffers from frequent charley horses. Galiotto also has lost her upper arm strength, and four years ago, she developed mitral stenosis, a narrowing of the valve between the upper and lower chamber of the heart.
Although her circulation is good, her nerves are sensitive to the cold, so winter can be quite hard on her.
CMT also tends to deplete the thickening agent in the tissue between the thumb and forefinger. Hence, Galiotto has trouble grasping items, and her penmanship isn't as neat as it used to be.
"I'm learning to live with this condition," she said. "I comfortably share with anybody what's going on with me. When I had polio, I tended not to share it. There was kind of a stigma about it. Now I say I have CMT."
CMT is primarily an inherited disorder, and according to the CMT Association, if one parent has CMT, there is a 50-50 chance of passing it along to each child. However, the severity of the disorder may vary significantly from patient to patient, even in members of the same family, and some people who carry the CMT genes have no apparent symptoms.
Today, 33 specific genes known to cause the disorder have been identified through DNA blood testing. A full examination includes a clinical evaluation of muscle atrophy, a test of muscle and sensory response and a comprehensive review of the patient's history.
Galiotto said she believes she inherited the disease from her late father, who was diagnosed with muscular dystrophy. However, after discussing the similarities in their symptoms with her mother, they decided he had CMT.
Galiotto is the only one of seven siblings who has CMT, and one of her three children has it. Her other two children have elected not to be tested.
Galiotto visited the pain clinic in Johnstown, and she has taken the advice of the physical therapist, orthopedist and nutritionist with whom she met. She works out on an elliptical machine - it's an easier form of therapy because Galiotto has a heavy step - and she watches her diet.
"My big problem in life is finding shoes that are stylish with no heel; I live in tennis shoes," Galiotto said.
As with all genetic disorders, CMT can appear as a mutation in those who have no prior hereditary record.
That may be the case for 16-year-old Samantha Sheriff of Bethel Park.
Her mother, Susan Headrick, recalls that Samantha had very low muscle tone when she was born, and she didn't walk until she was 2 years old. Nobody in the family of Samantha's father, David Sheriff of Carnegie, or Headrick's family carries the CMT gene.
Samantha was diagnosed with a severe case of CMT. She attends weekly therapy sessions at the Children's Therapy Center operated by Washington Hospital in McMurray, and she uses a motorized wheelchair to navigate the spacious Bethel Park High School campus.
"If she didn't have a motorized wheelchair, she'd have to stay in one classroom, and Samantha is not a special-ed kid," Headrick said. "She's very high-functioning. I just have to physically help her get in and out of the tub and getting dressed."
At home, Headrick encourages Samantha to use a walker - and not her wheelchair - so she doesn't lose her ability to walk, and at therapy, Samantha does exercises to improve the core strength in her hips and abdomen.
"I think it's helped her in the way of keeping moving," Headrick said. "Nothing is going to cure her. She's progressively deteriorating; it's just how fast it gets there."
Samantha loves to draw, listen to music and play video games. The family also owned a boat, but when Headrick could no longer lift Samantha in and out, they sold it and purchased an above-ground pool.
"I put her in every day when I get home from work in the summer," Headrick said. "She loves it. Her body's not weighing her down. It's freedom."
Bill Roberts of Upper St. Clair also believes he was born with CMT. As a youngster, he was unable to run the bases, and today, the 65-year-old still has balance issues.
"If you see me walk down the hallway, you're going to assume I have a flask in my pocket," said Roberts, who was diagnosed at Children's Hospital when he was 15 years old. "I can't stand in one spot for long periods of time without leaning against something. Once in a blue moon I'll have a charley horse, and I'll trip and fall here and there."
He has been evaluated at the Department of Neurology at Wayne State University in Detroit, and 10 years ago, he saw a neurologist at Frick Hospital in Mt. Pleasant who told Roberts the condition had pretty much arrested itself.
Roberts continues to work full time, and he exercises faithfully on a treadmill, circuit machines and bicycles.
"For me, it's a minor inconvenience," said Roberts, whose 41-year-old daughter - and eldest child - has a more pronounced form of CMT. She has problems with her hands and her gait.
"I did have braces that fit into the shoe, but they're so darned awkward, I just kind of set them aside. Since I'm always out in the business community, I try not to make it too apparent. Now the tendency for me is to spend more time scheduling appointments so when I go outside, I can get away without all the trappings."
For more information about Charcot-Marie-Tooth disorder, visit the CMT Association Web site, www.charcot-marie-tooth.org, or call 1-800-606-2682.
