MISDIAGNOSED

This isn’t a new subject on my blog.  The fact is that children are misdiagnosed and under-diagnosed all the time.  A common time frame from first symptoms to confirmed diagnosis is eight to ten years.  But, what this woman has gone through will astound you.  This is one courageous woman!

This Woman Spent Decades Unable to Control Her Limbs. Then One Day Everything Changed.

The Mighty
April 22, 2015
Jean Sharon Abbott lived more than three decades trapped inside her own body. She could barely move her arms or legs, and she needed help with even the simplest of tasks. Then, one day, when she was 33 years old, everything changed.

When Abbott was around 4 years old, she was diagnosed with spastic diplegia, a form of cerebral palsy. Despite the fact that MRIs and CAT scans didn’t show symptoms of the disorder, she seemed like a textbook case. Her neurologist was considered one of the best in the field; whenever Abbott sought a second opinion, she was assured her physician was the most qualified pediatric neurologist around.

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Woman misdiagnosed for 33 years
Jean Abbott suffered from debilitating symptoms and could barely move her arms and legs for more than 30 years. Doctors told her she had cerebral palsy, but later found out she was misdiagnosed. She suffers from a rare but treatable illness called dopa-responsive dystonia.

So Abbott did what anyone in her position would do — she learned to live with it. She went to school near her home in Andover, Minnesota, she hung out with friends and she pursued her interests.

“I was a positive, optimistic, happy-go-lucky girl who just happened to be trapped in her own body due to cerebral palsy,” Abbott wrote in a blog for The Mighty.
This Woman Spent Decades Unable to Control Her Limbs. Then One Day Everything Changed.
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When she was 12, Abbott underwent a muscle transfer. Doctors detached the muscles from her hips and then reattached them so her knees wouldn’t hit each other when she tried to walk. She was in a full-body cast for a month, but her stride was slightly improved afterward.

“Things were always more difficult,” Abbott told The Mighty. “I couldn’t keep up with my older brothers. I never played sports or anything like that. It was challenging.”
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When she was in her late 20s, Abbott had a pump for medicine implanted in her body, but something went wrong, and she ended up overmedicated. She visited a doctor specializing in these pumps. This new doctor wasn’t convinced Abbott had cerebral palsy and recommended she see another neurologist.

Abbott agreed, mostly just to be nice.

After asking Abbott some questions, the new neurologist donned a huge smile on her face when she announced, “I think you have dopa-responsive dystonia.”

She explained that dopa-responsive dystonia (DRD) is a disorder characterized by involuntary muscle contractions and tremors. Its symptoms are often misinterpreted as other disorders, including cerebral palsy. It’s called dopa-responsive dystonia because the symptoms typically improve with sustained use of a medication known as L-Dopa.

Basically, Abbott was told most of the symptoms she’d lived with her entire life — spastic, cramping muscles, weakness, etc. — would disappear with just a simple pill.

“I thought she was crazy, I really did,” Abbott told The Mighty. “I wasn’t even going to fill the prescription.”

After some persuasion from her husband, Abbott did fill the prescription and took her medication. Three hours later, she felt a little bit stronger. When her husband went to help her stand up from a chair that day, she surprisingly didn’t need his assistance. Still, she didn’t think much about it.
A day later, she was waiting for her children in their church parking lot. Her husband went to get the kids, and Abbott feared her legs wouldn’t support her on her own while she waited. She was fine.

“I hadn’t stood without help for a decade,” Abbott told The Mighty. “It was at that moment I realized the medication was working and my life had changed.”

“It was surreal,” Abbott told The Mighty. “It didn’t feel like this was actually possible because stuff like this just doesn’t happen to people. More often than not, they have what they have forever.”

It wasn’t long before the misdiagnosis was confirmed. Abbott was told as long as she took the L-dopa, she’d continue to live with only minimal symptoms, including cramping and balance issues.

The misdiagnosis led to countless unnecessary procedures and three decades of near immobility, but Abbott harbors no anger toward her pediatric neurologist.

“I’m not angry. Not in the least,” she told The Mighty. “When you live your whole life not able to do things, the day you start being able to do them, you can’t be anything but grateful.”

Abbott has no regrets about getting her correct diagnosis so late in life. She believes that if not for her disability, she would’ve gone to a different college, which means she would never have met her husband or had her children.
At her 10-year wedding anniversary, Abbott and her husband decided to retrace the steps of their first honeymoon — a 1,200 mile road trip around Lake Superior. The first time around, Abbott had to be carried to many of the lookout points and touristy spots. This time, two months after getting her correct diagnosis, she completed a 10-mile hike.

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About eight months ago, Abbott decided that she wanted to record video of herself walking, both on and off her medication. She wanted to do it to help other people who are misdiagnosed to recognize the signs of DRD. Because she never liked how she looked on camera when she had difficulties with mobility, Abbott had no home video of herself before the DRD diagnosis. Weaning herself off the medicine would be the only way to demonstrate the difference.

The video below shows the drastic difference in Abbott’s mobility and body shape on and off the medication. Within just a few days, her legs became stiff and her back bowed. She was unable to continue the experiment as long as she wanted to because of the pain, but the transformation in just three days is still starkly evident.
Since publishing the video online in September 2014, Abbott has received several emails from people who told her they recognized the symptoms in themselves or a loved one after seeing it and were later correctly diagnosed with DRD.

“It is so rewarding,” Abbott told The Mighty. “If I can just help one person, it’ll be worth it.”

In the last five years, Abbott says her family has pushed her to experience things she never dreamed she’d be able to do — things as simple as getting dressed on her own, doing the family grocery shopping and riding a roller coaster. She remains grateful for every newfound ability and experience.

“I’ve always been a believer in everything happens for a reason,” she told The Mighty. “I think it helped me get through what I needed to get through, thinking that this is my journey. I think all of our challenges that we face in life, everything that we go though, leads us to who we are today. And I like who I am today.”

By Melissa McGlensey for The Mighty

 

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