Thursday, September 16, 2010

SMA Blog Party! What is SMA?

What is SMA?

SMA stands for Spinal Muscular Atrophy. A disease my husband and I had never heard of until our daughter was diagnosed more than three years ago. Spinal Muscular Atrophy Type 1 (SMA1) is a genetic disorder that occurs in 1 in 4 children born to parents who both carry a recessive gene for it. (1 person in 40 carries such a gene.) There are five main types of SMA, type 1 being the most severe and the most common. SMA affects one in every 6,000 live births. This disease is degenerative and affects the motor nerves, resulting in muscle wasting and weakness. Children born with the disorder gradually lose strength in their nervous systems and become paralysed. The paralysis includes the chest and therefore Type 1 children die from repiratory related illness, usually by the age of two. There is no known cure or long-term treatment.

After learning Kaitlyn’s diagnosis we went home and researched anything we could find on the internet about SMA. The information was overwhelming for us and there were no options given to us from our local hospital about approaches we could take in caring for our daughter. There are really three options when caring for a type 1 child:
-Let nature take it’s course
-Using NIV approach (the method we chose for our daughter)
-Tracheotomy

Kaitlyn has been through a great deal in her short life. She has become dependant on machines to help her breathe, to keep her lungs cleaned out, to feed her, to monitor her 24/7, and to help her move. She has had four surgeries and was intubated for each. One intubation was for major bowel surgery to repair a torn and perforated bowel from a misplaced J-tube. Kaitlyn has never been intubated for an illness (a bit of a rarity for Type 1 children). She has a port-a-cath, an internal catheter, placed for venous access. She has a blood disorder that causes her blood vessels to form clots. She has two holes in her heart (also a bit rare, so we are told).

And in light of all this.....she laughs. Kaitlyn laughs because she is happy, because she is smart enough to know she has a reason....a right to be here! She is precocious, she is determined and she is strong. We adore how strong she is and how she never gives up (AKA stubborn). She is a joy and we are enjoying each and every moment with her!

But what would Kaitlyn wish for....what would she most want, if she could tell us? I think she would ask us for a cure. A cure for this horrible disease! She would ask each of us to do what we can to spread the word about SMA, raise awareness, and help fund a cure for SMA. Well guess what folks...Here's an easy way to help Kaitlyn in our quest for a cure!! Go to: http://www.voteforsma.com/ and vote for the Gwendolyn Strong Foundation in the Jimmie Johnson Helmet of Hope Contest as they are trying to win $20,000 towards a CURE for SMA. Please vote every day until the 29th of September. Ask your friends to join us in voting and feel free to join our blog party and tell your readers about SMA. You can talk about Kaitlyn :)

Thanks for your time, and happy voting :)

3 comments:

Carol said...

Hi - Mom (Margaret Macomber) sent me the blog link to vote, which I'm doing and forwarding. I'm enjoying reading your blog. I have one too, about training my horse.
Kaitlyn is a very brave little girl. I'll look forward to reading updates.

hong_hai_long said...

Absolutely brilliant post guys, been following your blog for 3 days now and i should say i am starting to like your post. and now how do i subscribe to your blog?
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Anil Rajanala said...

Wow that was odd. I just wrote an very long comment but after I clicked submit my comment didn’t appear. Grrrr… well I’m not writing all that over again. Anyways, just wanted to say wonderful blog!
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