It Affects Males Only: So What is Barth Syndrome?
Posted: Monday, February 16, 2009
by Avis Ward
GeoVi's Home for Pregnant Teens
Parade magazine wrote about a family's struggle due to a disease known as Barth Syndrome. I was clueless about the disease and turned to the Internet to learn more.
The McCurdy family struggled for two years with the illness of their son and sibling Will, before he was properly diagnosed. The symptoms were textbook perfect after discovering he had Barth Syndrome. The gene called G4.5 or TAZ1 was only discovered in 1996. Will McCurdy was born in 1986.
Will's symptoms initially manifested as muscular weakness and heart problems. A visit to his Pediatrician sent them to the ER because Will was in heart failure and in need of a heart transplant. Further examination discovered he also suffered metabolism distortion, delayed motor skills, and stamina deficiency. Will's doctors researched his symptoms and were lead to a Dutch neurologist by the name of Peter Barth. Dr. Barth had written an article about all of these combined symptoms observed in the case of one family's history. Over 20 males were affected and all but one had died.
The disease can be fatal or debilitating. There is a wealth of information available about Barth Syndrome on the Internet. One place to look and help others dealing with the struggles faced by a family member affected by Barth Syndrome is to the foundation.
The McCurdy's started this nonprofit organization as a way of: " Saving lives through education, advances in treatment, and finding a cure for Barth syndrome." Although Will is now an adult and unable to work full-time, the Foundation gives his life a sense of purpose. Conferences with doctors and scientists all over the world are held to meet the mission of Barth Syndrome Foundation.
Some interesting facts about Barth Syndrome:
- Other symptoms may include hypotonia (reduced muscle tone), delayed growth, chronic fatigue, mouth ulcers, varying degrees of physical and learning disability.
- At least 50 families worldwide are affected. The syndrome is believed to be severely under-diagnosed and may be estimated to occur in 1 out of approximately 200,000 births.
- Because it is carried by the X-chromosome, on average 50 percent of children born to a carrier mother will inherit the defective gene, but only boys will have symptoms. All daughters born to an affected male will be carriers.
- Historically, patients with Barth Syndrome died of heart failure or infection by 3 years of age. This is changing with improved diagnosis and appropriate medical treatment.
Sources: Parade Magazine, Barth Syndrome Foundation, National Institute of Neurologic Disorders and Stroke and John Hopkins Medicine
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