I have SMA Type 1, which is the most severe.
I have a tracheostomy and I am on a respirator. I get my food and medicine through a tube called a Mic-Key. I also have to be suctioned to clear my lungs, nose and mouth.
Someone trained in my care has to be with me 24 hours a day, but I really don't think anyone minds because I am soo cute and I'm really good company!
My Mom and Grandma O'Neil are my main caregivers plus a few really great nurses! Aunt Sheri stays with me all night sometimes when I need her but Grandma is still my favorite night person because she knows just how I like to sleep!!
Read on for information about SMA.
All about SMA
There are 5 types of SMA,TYPE1-Werding-Hoffman (most fatal) This is what Andy has.Children are floppy,lack motor development,cannot sit unaided and have problems breathing ,sucking and swallowing. Affects: birth - 6 months
Type 2: Less severe than Type 1. Children may be able to sit unaided or even stand with support. They can eat and swallow. They are at risk for complications from respiratory problems. Affects: 6- 18 months
Type 3: Krugelberg-Welander (least deadliest) Children are able to stand and/or walk however, weakness will persist resulting in eventual use of a wheelchair. Affects: Anytime after 18 months
Type 4: Adult symptoms begin in hands,feet and tongue then eventually to the rest of the body. Affects: anytime after age 35
Adult onset X-Linked : Kennedy's Syndrome occurs in males. Only facial and tongue muscles mostly affected.
Facts about SMA
- Spinal Muscular Atrophy is the #1 genetic killer of children under the age of 2.
- 1 in every 6000 births are affected by SMA.
- 1 out of 40 people are carriers of this gene.
- Most people have never heard of this disease but it has stolen so many babies and children.
- Everyday 2 babies are born with SMA, 1 of those 2 will die before they are 18 months old.
- Children with SMA are not affected intellectually.
- The disease affects the nerves in the spinal column that control voluntary movement like crawling, sitting, head control and sometimes swallowing and breathing.
- SMA does not discriminate,it can affect anyone.
- Researchers are working very hard to find a cure.
- YOU CAN HELP!!!!
Researchers are working hard for a cure
A cure is within reach,thanks to the many breakthroughs from the OSU researchers. Through the leadership and dedication of researcher Dr.Arthur Burghes, the OSU labs have found the following for Spinal Muscular Research:
- Cloning of the SMA gene and isolation of the SMA protein.
- Discovery of the SMA protein called SMN of Survival Motor Neuron.
- Development of DNA blood carrier test and protein deletion test for SMA.
- Development of the Human SMA Mouse Model for Types 1,2 and 3.
- Proved and demonstrated SMA can be corrected by increasing the amount of SMN2 protein.
- Collaborating with Auronra Biosciences in initiating assay development and high throughput drug compound screening.
- The drug compound screening has yeilded several potential hits which will either activate or replicate the SMN2 protein.
- The SMA mice are playing a vital role in the final stages of the drug compound screening. The mice are also at John Hopkins University for stem cell research.
- The OSU Research for SMA may also lead to cures for other diseases such as Parkinson's, Alziheimer's, ALS,and Huntington's.
How you can help!
TO HELP ANDY HELP RESEARCHERS IN THEIR GOAL TO FIND A CURE PLEASE SEND YOUR 100% TAX DEDUCTIBLE DONATION TO:
SMA RESEARCH
1375 PERRY STREET
FIFTH FLOOR,ROOM 515C
COLUMBUS,OHIO 43201
ATTENTION LEIGH E. BRIGGS
PLEASE MAKE YOUR CHECKS PAYABLE TO:
OHIO STATE UNIVERSITY FOUNDATION
IN THE MEMO OF YOUR CHECK PLEASE WRITE:
ANDREW O'NEIL SMA RESEARCH
ACCOUNT NUMBER 311538
*OSU WILL SEND THE PROPER PAPERWORK FOR YOUR RECORDS
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