Kylynn Welsh, 21, was in and out of the hospital as a child. She had frequent episodes of swelling all over her body that no one seemed to understand.
Martha Bryce, 42, was a healthy 32-year-old when she began having strange episodes of fainting while eating. Doctors believed she had epilepsy and told her not to drive anymore, but that diagnosis just didn’t feel right to Ms. Bryce, a registered nurse. Her symptoms were different than epilepsy.
Cheryl Marshall, 46, always knew there was something strange about her body odor. She took frequent baths and tried every deodorant on the market, but still classmates would tease her for her body’s smell. She saw countless doctors and specialists about this issue. Some prescribed strong deodorants, others suggested surgery to remove her sweat glands, and some dismissed her complaints entirely. Bottom line, nothing helped.
In the latest Patient Voices, you’ll hear from all three of these women, along with other people suffering from different rare diseases. Each patient eventually figured out the cause of his or her strange symptoms, but it took years of frustrating doctors’ appointments, treatments that didn’t work and a feeling of powerlessness over a strange set of symptoms.
“I was misdiagnosed with everything from lactose intolerance and leukemia, to just having bad luck,” said Ms. Welsh, who finally discovered at age 12 that her swelling episodes were caused by a condition called hereditary angioedema, which affects only 6,000 people in the United States.
Ms. Bryce’s condition is even rarer. After years of searching for an answer to her strange fainting spells, a heart specialist determined she had a condition called swallowing syncope that causes her heart to stop beating every time she swallows. There is no way to know exactly how many people suffer from this disorder, but Ms. Bryce’s research indicates there are about 50 people in the United States living with it.
“The hardest part was just getting to the correct diagnosis,” Ms. Bryce said.
Almost 40 years passed before Ms. Marshall, through her own research, learned about a metabolic disorder called trimethylaminuria, or TMAU. After contacting one of the three specialists in the United States who test for the condition, Ms. Marshall finally understood why she was constantly dealing with a strange body odor.
“There was vindication,” Ms. Marshall said. “Finally, I knew what the problem was.”
To learn more about living with a rare disease, watch “Patient Voices: Rare Diseases.” Then, join the discussion below. What do you think is the hardest part of living with a rare disease?
Por Karen Barrow
Martha Bryce, 42, was a healthy 32-year-old when she began having strange episodes of fainting while eating. Doctors believed she had epilepsy and told her not to drive anymore, but that diagnosis just didn’t feel right to Ms. Bryce, a registered nurse. Her symptoms were different than epilepsy.
Cheryl Marshall, 46, always knew there was something strange about her body odor. She took frequent baths and tried every deodorant on the market, but still classmates would tease her for her body’s smell. She saw countless doctors and specialists about this issue. Some prescribed strong deodorants, others suggested surgery to remove her sweat glands, and some dismissed her complaints entirely. Bottom line, nothing helped.
In the latest Patient Voices, you’ll hear from all three of these women, along with other people suffering from different rare diseases. Each patient eventually figured out the cause of his or her strange symptoms, but it took years of frustrating doctors’ appointments, treatments that didn’t work and a feeling of powerlessness over a strange set of symptoms.
“I was misdiagnosed with everything from lactose intolerance and leukemia, to just having bad luck,” said Ms. Welsh, who finally discovered at age 12 that her swelling episodes were caused by a condition called hereditary angioedema, which affects only 6,000 people in the United States.
Ms. Bryce’s condition is even rarer. After years of searching for an answer to her strange fainting spells, a heart specialist determined she had a condition called swallowing syncope that causes her heart to stop beating every time she swallows. There is no way to know exactly how many people suffer from this disorder, but Ms. Bryce’s research indicates there are about 50 people in the United States living with it.
“The hardest part was just getting to the correct diagnosis,” Ms. Bryce said.
Almost 40 years passed before Ms. Marshall, through her own research, learned about a metabolic disorder called trimethylaminuria, or TMAU. After contacting one of the three specialists in the United States who test for the condition, Ms. Marshall finally understood why she was constantly dealing with a strange body odor.
“There was vindication,” Ms. Marshall said. “Finally, I knew what the problem was.”
To learn more about living with a rare disease, watch “Patient Voices: Rare Diseases.” Then, join the discussion below. What do you think is the hardest part of living with a rare disease?
Por Karen Barrow
http://well.blogs.nytimes.com/2011/01/19/voices-of-rare-diseases/?ref=health
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