Sally's World

Many people are e-mailing and asking me about Aarons medical conditions. Especially my newer followers. I have tried to be informative here about the conditions themselves.

What is Smith-Magenis syndrome? (Aaron was born with this.)

Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features are mental retardation, distinctive facial features, sleep disturbances, and behavioural problems.

Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people have trouble falling asleep and awaken several times each night.

People with Smith-Magenis syndrome have endearing, engaging personalities, but also have behavioural problems. These include frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness, and difficulty paying attention. Self-injury, including biting, hitting, head banging, and skin picking, is very common. Repetitive self-hugging is a behavioural trait that may be unique to Smith-Magenis syndrome.

Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia) and other problems with vision. Heart and kidney defects also have been reported in people with Smith-Magenis syndrome, though they are less common.

To read more go to...
http://www.medic8.com/genetics/smith-magenis-syndrome.htm

What is Mitochondrial Myopathy? (Aaron was diagnosed with this when he was seven.)

Mitochondrial myopathies have many different faces. There are dozens of varieties of mitochondrial diseases, with a complex array of symptoms. Some symptoms are mild, while others are life-threatening. The mitochondrail cells are what give our muscles energy, when they don't work, the body over produces lactic acid, which along with the lack of energy, casues the muscles wither and die.

Aaron's strand of the disease caused muscle weakness, muscle cramping, fatigue, lack of endurance and poor balance, a wheel chair and then progressed so he couldn't swallow, chew and eventually breathing became hard and he was oxygen dependent. Each case is unique.

To read more go to....
http://www.mda.org/Publications/mitochondrial_myopathies.html