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Sunday, September 23, 2007

Twins With SMA - Spinal Muscular Atrophy

Donations Welcome

On Line Sports Auction

Several Premiership and Championship Football Clubs as well as Derbyshire Cricket Club donated memorabilia – signed shirts, photos, a cricket bat, stadium tour, match tickets and a signed pennant were sold online and raised just over £100. Many thanks to Derbyshire Cricket Club, Middlesbrough FC and Leicester City FC.

Sunday 16th September 2007 – Watercolour Exhibition/Sale

The exhibition held by the twins Grandma (Pat Wilson) raised just under £800. The day was a great success with Pat selling 39 of her 51 paintings. Money was also raised from the sale of postcards, greetings cards and prints as well as a raffle. Thank you to everyone who came and spent!!!

Monday 17th September 2007 – Evening of Mediumship

Tamworth Spiritualist Church held a special evening to raise funds for Sam and Alex and raised nearly £350. Many thanks to all those who attended as well as the special guests who gave their time free of charge. Particular thanks to Sonia Cherrington and Cindy Heath.

Forthcoming Events

Sarah’s friend Charlotte Hunter and her sister Zoe Crosby are taking part in a parachute jump in October (exact date to be confirmed) to raise funds for the boys. If you would like to sponsor either Charlotte or Zoe please email us to sponsor. Two brave ladies!!!!!
What is spinal muscular atrophy?
Spinal Muscular Atrophy (SMA) is a neuromuscular condition causing weakness of the muscles.

Is SMA Hereditary?
The gene for SMA is passed from parents to their children, but SMA can only affect a child if both parents carry a defective gene (this is called an autosomal recessive pattern). Genes come in pairs, one from each parent. If a person has one normal and one affected gene they do not show the symptoms of SMA but are carriers. If both genes are affected they will have SMA.

How Spinal Muscular Atrophy is Inherited.
Each child of carrier parents has a 1 in 4 chance of being affected by SMA, a 2 in 4 chance of being a carrier themselves, and a 1 in 4 chance of being completely clear of SMA. Boys and girls are affected equally.

Is There More Than One Type SMA?
There are several types of SMA. These differ in the age at which they have an obvious effect, how severe this effect is, and which muscles are most affected. The intermediate form described here starts in infancy. However, it does not have such a severe effect as Werdnig-Hoffmann Syndrome with which it is sometimes confused.

Types of SMA
All ages of onset are approximate
Type 1 (Severe) Also known as Werdnig-Hoffman Syndrome. Onset before or shortly after birth. Unable to sit. Do not usually survive past 2 years old.

Type II (Intermediate) Onset between 3 months and 2 years. Able to sit, but not stand without aid. Survival into adulthood possible.

Type III (Mild) Also known as Kugelberg-Welander Disease. Onset usually around 2 years. Able to walk. Normal lifespan. Adult Onset SMA Number of forms differing in age of onset. Degree of weakness is variable.

How do Normal Muscles Work?
Muscles contract, moving parts of the body, when signals from the brain pass down the spinal cord through the anterior horn cells. Each anterior horn cell is responsible for passing a signal down another nerve to a muscle. The group of structures made up by one anterior horn cell, the nerve fibre and the muscle it supplies, is known as a motor unit.

What Happens in SMA?
In SMA, it is the anterior horn cell, which is abnormal. Not all nerve impulses can be passed from the brain to the muscles. This results in some of the muscles becoming weak and wasted (atrophied).

All of the above details have been taken with permission from the Jennifer Trust website, the UK’s only existing website driven towards Spinal Muscular Atrophy.

For more information, why not visit the Twins with SMA website?

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