Thursday, March 7, 2013

Ouch, Rare Disease - Muscle Moves Bones

Ouch, Rare Disease - Muscle Moves Bones:
A student at New York experienced a rare disease that is only experienced by about 800 people around the world. This disease makes the muscles turn into bone. Doctors difficult to cure because not much research done to understand this disease.

Joey Suchanek (20 years old) were still actively studying at Marist College, New York. He suffered from a disease called fibrodysplasia ossificans progressive (FOP), a rare disease that can not be cured and cause connective tissue turns into bone in her body.

"My left arm petrified with an angle of 90 degrees and locks into the side of the body. Well my right arm in a 90 degree angle, but I can fold it to grab and eat their own face can not be stretched though. When I was a baby, growing bones near ribs lock my arms until I grew up, "Joey said as reported by CBS News.

According to Joey, no matter when he was born. Until one day, he had a lump on her head. Initially doctors suspected the lump was cancerous and picked it up, but bumps up again a few months later. Upon further inspection, it turns out the lump is not cancerous.

Because when the internet was not yet widespread, Joey's father every night to go to the bookstore to find out the strange symptoms in children. Suspect a rare disease, Joey and taken to a geneticist at the age of 2 years old and was diagnosed with FOP.

This disease affects the growth and cause severe scoliosis. Uneven hips and left leg grew shorter than the right leg. He also had pain for 8 weeks until the bones stopped growing. When this happens, Joey was not able to walk.

"The most painful part is the swelling, swelling really intense.'s Really unexpected. Doctors can not do much. Yet able to estimate how long the symptoms will last," said Joey.

Until now, there were 2 people in the world who are considered experts on the disease, namely Dr. Frederick S. Kaplan, head of the orthopedics division of molecular medicine at the University of Pennsylvania School of Medicine in Philadelphia, and Dr. Eileen Shore, also from the University of Pennsylvania.

According to Dr. Kaplan, FOP is a very rare disease and only affects about 1 out of 2 million people. All patients with FOP are born with abnormalities of the bunion, the bump on the joint at the base of the big toe. The foot is the last part that grows in the embryo.

Newborns usually do not indicate a problem, but parents can be suspected if the child can not look stiff or crawl. Around the age of 2-5 years, a painful swelling and look like tumors can appear suddenly. It is the response of the immune system that attacks the skeletal muscles, tendons and ligaments and ultimately destroy the network.

"Instead of forming scar tissue from muscle destruction, something in the immune system triggers the formation of stem cells that have the potential to connect with the nearby cartilage, converting cells into bone, muscle is not new," said Dr. Kaplan.

Because the disease is very rare and not well understood doctors, Suchanek was willing to become the face of a campaign to raise money for research. He also decided to tell his condition to the public Internet through a social site Reddit Ask Me Anything by program (AMA).



Sources:
second.

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