|Although it was difficult in the beginning, Carol Abraham says she doesn't give wearing her braces a second thought anymore.|
Carol Abraham, 52, of Twin Lakes, Wis., is a retired occupational therapist who enjoys doing crafts and teaching at her church. She considers herself fortunate to have limb-girdle muscular dystrophy (LGMD) and not a more rapidly progressive disease. "It's not like one day you're walking and the next day you're not," she says. "The progression is so slow that it does allow you to substitute ways to do things, to problem-solve, which I think is a blessing."
She and her parents have known about her LGMD since she was 9 years old, but a more specific diagnosis wouldn't come for another 42 years. In March 2012, with the help of her MDA clinic physician in Milwaukee, she learned she had the type 2A form of LGMD, which is caused by a deficiency of a protein called calpain 3 that normally plays a role in the repair of muscle fibers that have been damaged.
A 'normal life,' with some accommodations
As a child, Abraham remembers falling frequently and not being able to keep up in gym class. By fifth grade, she could no longer get on and off the school bus and had to be driven to and from school. But, Abraham says, "I was completely independent in terms of dressing and activities of daily living."
By high school, her weakness and forward curvature of the lower spine — lordosis — made her balance precarious and stairs extremely difficult. The school district — in a small town in rural Wisconsin — wanted her to attend a special facility for disabled students, but her parents vetoed that proposal.
"I grew up in an era when mainstreaming really was just in the very beginning stages," Abraham recalls. But the special school was 25 miles away, and her parents objected. "They said there was no reason to pull me out of my circle of friends," Abraham says. "We just made accommodations and worked with the school."
Abraham learned to drive a car at 16 and generally had "a normal life, even though physical activities were more challenging," something she attributes largely to her parents' attitudes. "When I was growing up," she says, "my parents had the same expectations for me that they had for my sister. I never grew up thinking that my life was going to be that much different. I just grew up believing that the thing to do is complete high school, go to college, get married and get a job."
In fact, she did all those things, even as her LGMD progressed.
College and career
When it came time for college, Abraham chose a small school with underground tunnels between classrooms. "I didn't want to deal with weather conditions, as walking with ice and snow could be very challenging and wind could easily cause me to fall," she recalls.
She graduated in 1983 with a degree in occupational therapy, becoming a registered OT shortly thereafter. It was a job she loved, but it did pose some obstacles. "When I was working, I did need some job modifications," Abraham says. "I needed to work with an OT assistant, because manual muscle testing was a difficult task for me, and I couldn't transfer patients on my own."
A year later, Abraham shifted her professional focus from a physical disability setting to a community mental health setting. "It was less demanding on my body," she says. By the time she was 30, in 1991, she was using a power chair at work.
That year proved to be one for transitions — welcome and unwelcome. In May, Carol married Tim Abraham, marking the start of a strong 22-year union.
"Tim has been wonderful," she says. "I truly feel blessed. When I met Tim, he was aware that I had a progressive illness, and fortunately, he has been just wonderful. He's my primary caregiver."
But in September 1991, she fell, breaking an ankle, which had a permanent effect on her mobility.
"I was walking, wearing flat shoes, and I just slid off the side of the shoe about a quarter of an inch," she says of the life-altering fall. "From that point on, I've been using a wheelchair full time."
It was also at that time that Abraham began wearing metal lower leg braces that attach to shoes. "I have full ankle flexion," she says, "but they don't allow [my ankles] to roll out or in. When I'm standing, they give me support at my ankles. They go from the base of my shoe to just below my knee, and there's a bar that runs up each side of the lower leg."
The braces eventually became part of everyday life, but they were unwelcome at first. "I cried many an hour before I agreed to wear them," Abraham recalls. "To me, it was just an acknowledgment of being different and acknowledging that I'm disabled.
"But now I don't think twice about it. They're comfortable, and if I have to go to a wedding or something, I can wear sandals just for that event. But we always have the braces in the car just in case I need them. I now wear them anytime I stand and bear weight. I even put them on in the morning before I get out of bed for the transfer to the shower chair, just to be safe."
The ankle fracture also ended Abraham's driving. Until the 1991 fall, she had been driving a vehicle that was unmodified except for a built-up gas pedal. After the fall, she learned to drive with joystick hand controls but never got used to it. "I just didn't feel as safe and comfortable," she says.
|Abraham's service monkey, Sadie, did so much to make her life easier. But, due to changes in the Americans with Disabilities Act, Abraham was forced to return Sadie and is now on a waiting list for a service dog.|
Retirement came early
Abraham worked full time as an occupational therapist until 2002, when, at the age of 41, she sustained another fall while camping, this time breaking a femur (thigh bone). The accident ended her working life.
A bone infection followed, as did complications with a metal rod inserted to stabilize the leg. During a later surgical procedure to replace the malfunctioning rod, a bone in Abraham's hip broke, causing her to undergo a total hip replacement in 2010.
"Amazingly enough," she says, "I've regained pretty much all of my skills of standing and transferring and so forth, even with the hip replacement, through aquatic therapy."
Until recently, Abraham had another assistant in addition to Tim — a service monkey named Sadie. "For three years, I had a wonderful, specially trained monkey. She was adorable and could do so much more than a dog, because she basically had four hands," Abraham says. However, in 2011, the Americans with Disabilities Act changed its definition of service animal so that only dogs were included. Before that happened, Abraham says, Sadie could accompany her and Tim on all their travels. "She could go into a motel room with us; she could be in a state park if we were camping."
Unfortunately, there are now few places where a monkey is allowed to go, and they reluctantly returned Sadie to the agency that had provided her, Boston-based Helping Hands: Monkey Helpers for the Disabled. (Helping Hands now has a policy that its monkeys should not be taken out in public. See Service Monkeys Lend a Helping Hand.)
Abraham is now on a waiting list for a service dog. "It won't be as helpful, but just having the companionship would be wonderful," she says.
LGMD seems 'manageable'
These days, Abraham receives disability benefits, teaches adult religion classes and assists Tim with his document destruction business. "I try not to let my disability slow me down too much," she says. "In the summer, my husband and I enjoy being outdoors. We do a lot of camping. Two years ago, we purchased a camper and were able to have the door modified, so that, along with a portable ramp, I can drive my wheelchair into the camper. We just use a commode for the bathroom, since that space in the camper is small. Where there's a will, there's a way," she says.
Her declining respiratory status — caused by weakening breathing muscles, a feature of LGMD2A — is her greatest concern. "Fortunately, due to my low level of activity, I think I have accommodated very well," Abraham says. "If an average person had the lung function that I have, they would be completely incapacitated."
Abraham says she avoids crowds and people with colds or the flu as much as possible and has been fortunate that she's had few such illnesses to complicate her breathing. However, she does see a pulmonologist regularly, and her husband has been instructed in how to give her manual coughing assistance. "It's kind of like a Heimlich [maneuver]," she says. She now has a multipositional electric bed and often sleeps with the upper part somewhat elevated.
She says she's been fortunate in that so far her heart function has shown no signs of deterioration — a benefit that seems so far to be typical for LGMD2A, although more data need to be collected.
For the most part, she feels she can manage her LGMD. "The one beautiful thing that I am very thankful for is that, although limb-girdle muscular dystrophy is a progressive illness that I will have forever, the progression is very slow. I think it's very manageable. With my lordosis, the curvature in my lower spine, pain can be an issue. When you're sitting 18 or 20 hours out of the day, your joints hurt. But with the advances in the technology of wheelchairs, things have come a long way. Having a wheelchair that is able to tilt, recline and elevate my legs makes a huge difference in terms of positioning and comfort throughout the day.
"Because of being seated all the time, I get edema [fluid retention] in my lower extremities, so I wear supportive compression stockings every day. I even swim with them on. Once your legs puff up, it's so much harder to get the fluid out. I take the stockings off for sleeping and bathing, but otherwise I wear them all the time."
Abraham says she's also been fortunate to have a home that meets her needs. "We were able, with my OT background, to accommodate a number of features in the home that I needed in anticipation of my disease progressing — like wider 36-inch doors, a minimum of 48-inch wide hallways, a roll-in shower, a cut-out area underneath the bathroom sink so I can pull in, and ramped entrances into the house as well as on our deck."
During the week, she has an aide come in over the noon hour to help with lunch and the bathroom, but Tim is her mainstay. "This is the man who gets me up and dressed and showered," she says. "The routine takes two hours before he goes to work. Then the first thing he does after work is come home so I can go to the bathroom. He does everything around the house. I am just truly, truly blessed to have such a wonderful, caring, supportive husband."
LGMD2A diagnosis brought more benefits than expected
Abraham didn't expect to derive so much benefit from learning her precise diagnosis, but she has been pleasantly surprised.
"I spent the first 50 years of my life not knowing anybody else who had limb-girdle muscular dystrophy," she says. "Now, I've been able to connect on social networking with other individuals who even have my type. We're all at different stages of the disease, but it's a great place to share experiences, tips and resources, and seek peer support. It's been wonderful. If I hadn't had my subtyping test, I never would have connected with these individuals from around the world."
In addition, the LGMD2A diagnosis led her to a research study at Ohio State University, where she underwent a cardiac MRI (an imaging study of the heart) and had her history entered into a database for future studies. (The study is no longer recruiting.)
In general, she says, knowing her precise diagnosis has given her "a little bit more of a realistic outlook" about her disease and allowed her to plan for expected changes.