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

Thank you everyone for your e-mails and messages of support for Deion and what’s been going on. A few people are asking me what is wrong with Deion with regards to the new tests.

The simple answer is, “we don’t know.”

Deion’s elder brother passed away from a muscle wasting condition three years ago. At that time Deion was tested for similar conditions as he was also a wheelchair user and ‘vulnerable’, but nothing was picked up.

Deion’s condition was always separate from Aaron’s because Deion was a preemie and had a brain haemorrhage resulting in cerebral palsy. Yes, there were physical disabilities, but we were not expecting anything new to show up…

Well, life just isn’t that simple is it?

About 18 months ago Deion developed a squint right out of the blue. At first the doctors thought he was having small absences, so ordered tests for epilepsy…all negative. The squint got worse, and then was in both eyes, so they had to correct it.

Then he started getting headaches, so the tested for brain swelling or tumours…still negative thank goodness.

Next Deion began to have trouble chewing and swallowing. Normally Deion could reduce a man size meal to a mere smudge on a dinner plate in seconds, but he was taking half an hour or more to eat small portions, and was having to swallow six or seven times for each mouthful to get the food down. More tests, which showed the doctors that chewing was becoming unsafe, then he had some weight loss, so food supplements were prescribed and now we have to closely monitor all his food and textures.

And now Deion seems to be losing some of the use of his trunk muscles. His head is a little floppier, his legs are weaker when doing his exercises, and sitting straight is harder. So his wheelchair has lots of added support and a head rest for him.

Deion has always been incontinent, but he used to have some sensations in his lower abdomen, now he doesn’t seem to have any.

But we still don’t know why.

The doctors are testing for ‘myasthenia gravis’ (literally meaning grave muscle weakness) ‘muscular dystrophy’ and ‘mitochondrial myopathy’ (which Aaron had).

Now, we don’t particularly want any of these illnesses, but if we had a choice (I know, I know, we don’t…) but we will take the myasthenia, as it can at least be controlled and isn’t necessarily life shortening.

Now it will seem outrageous to many of you to hope for an illness, but any parent in our position will understand. There has to be a reason for the change in Deion and his abilities, so we want the reason to be as non-life threatening as possible…simple…if only.

So Deion is still undergoing tests, he is due to go back into hospital on the 17th Feb for tests on his central nervous system, and we will see what they tell us.

One thing is for sure, Deion is Deion, he’s strong and determined and whatever we have to deal with, we will…because lets face it, we have no choice. And although it feels a little de-ja-vu, we are staying positive that we are not going down the same road we did with Aaron. We have to believe Deion is here to stay, no matter what any test or doctor tells us, because to live any other way is not living, it’s waiting for something to happen…and that’s not what we do!

So thank you for your support, I know there are many, many families in our position, so I am wishing everyone of them well. I know how hard it is to stay strong, but look in your child’s eyes, see the love in them and tell me that is something that you will ever stop feeling!

Fight, fight, fight!!!

Take care

Sal xxxxx