April 25, 2015

After 33 years of a cerebral palsy misdiagnosis, woman is 'cured' after two days of treatment with medication.

Jean Sharon Abbott spent nearly all of her life believing she had an incurable condition that left her feeling "trapped" in her own body -- unaware that many of her symptoms could be easily treated with a pill.
The 38-year-old Minnesota mother of three was diagnosed as a child with spastic diplegia, a form of cerebral palsy, a neurological disorder that appears early in life and permanently disrupts the brain's ability to control movement and balance.
For more than three decades, Abbott says she suffered from debilitating symptoms. "I could barely move my arms or legs to due to the countless hours of spasms, stiffness and cramping through out my body," she wrote on her blog. She underwent "countless doctors visits, medical procedures, unnecessary medications and surgeries."
Despite the physical challenges, she says she was able to "make friends, go away to college, marry and have children," and she notes with pride that she managed "to maintain a positive attitude and be a joyful person throughout this whole ordeal."
But it turns out the diagnosis was wrong. She never had cerebral palsy.
In 2010, a new doctor recognized that her symptoms, which never quite fit with the classic signs of cerebral palsy, were actually caused by something else: a rare but treatable condition called dopa-responsive dystonia.
Celebrating our 5th anniversary of a correct diagnosis. My husband has been my rock since day one.
Posted by Rainy Day Friend on Saturday, April 4, 2015
Similar to cerebral palsy, dopa-responsive dystonia can cause involuntary muscle contractions and tremors. However, unlike cerebral palsy, these symptoms can be virtually eliminated by medication.
The National Institutes of Health says dopa-responsive dystonia -- which affects just one in a million people -- may be frequently misdiagnosed because its symptoms are similar to other, more common movement disorders.
For Abbott, the new diagnosis made a world of difference. Treatment with a drug called L-Dopa largely resolved the symptoms she had struggled with since childhood.
Abbott received the correct diagnosis on Good Friday in 2010, and she told theDaily Mail Online that just two days later, on Easter Sunday, she stood up without assistance for the first time.
She says she still suffers occasional flare-ups, especially when she's under a lot of stress or depleted by a cold or flu, but she exercises to keep her muscles strong and says she's doing "so much better than the 'old days.'"
"Every day I do so many things that weren't possible such as: walking my daughter to the bus stop, cooking dinner, vacuuming, driving the kids to all their after school activities and so much more!" she writes.

1 comment:

  1. Wow. Actually some good news..."miracles do happen." Good for her!