.jpg)
Posts
Smith-Magenis Syndrome/Mitochondrial Myopathy
Saturday, 25 April 2009
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
25 April 2009 at 10:53
You know, it didn't even occur to me to wonder. It probably stems from having a disability myself.
25 April 2009 at 11:07
you have a very valid point ...for me, i find that if a child passes away people want to have the answers, i think i was like this before too...its almost a reasurance that your own child wont have the same issues...also i guess I talk about Aaron and people wonder what happened to make me the way I am, so many people ask me how i can still be positive and grateful, but when a doctor has sat you down and told you that you have less than six months left with your 7 year old...and you are celebrating his 13th birthday with the dolphons, his 14th in Florida...you get to feel hugely grateful and positive.
I also think its a way of people asking if deion has the same illness, but deion is simply a wheelchair user with cerebral palsy...i guess when we blog, it all comes out slowly, so a new reader suddenly feels like its coming in in the middle of a film LOL!!!
25 April 2009 at 18:29
God has blessed you with a great ability to make us all more aware. Not to mention--patience!
26 April 2009 at 10:46
An interesting blog providing more awareness to"Smith-Magenis Syndrome/Mitochondrial Myopathy" condition. Are you gonna explore this subject matter further in future post? This is would give your readers a fuller understanding of this condition in everyday life.
11 November 2009 at 03:27
Wow, you are the most amazing person! I stumbled onto your blog because my daughter also has SMS. You are beautiful and your children are all beautiful. Aaron is an angel and I have to say that although it is such an uplifting and beautiful story I can't help but to shed tears. Aaron reminds me of my baby girl Morgan, who is 8 years old. Your life is remarkable and I just wanted to say thank you.
1 January 2010 at 18:23
Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: http://www.accessdna.com/condition/Mitochondrial_Conditions/252. I hope it helps. Thanks, AccessDNA
12 November 2010 at 23:10
Wow Sally! First I am so sorry and in tears reading this. Second, you are an amazing person!! My daughter Taylor has SMS and we just officially opened a foundation for SMS in honor of her.
I was shocked at the combination of diseases that Aaron had. My husband and I met at summer camp for kids with Muscular Dystrophy and both of our children are named after our 'camper' that died. I know one other mom who has a child with MD and one with SMS. And one of my dear friends has a daughter with SMS and a daughter with CP (both adopted) and she lives in Scotland but goes to London often.
Bless you and your family!!!
Shannon