What is Spinal Muscular Atrophy?
- SMA is a genetic and often fatal disease that destroys the nerves controlling voluntary muscle movement, which affects crawling, walking, head and neck control and even swallowing
- SMA is the number one genetic killer of children under the age of two
- 1 in 40 people carry the gene that causes SMA
- SMA effects all ages, races and genders
- SMA is classified into four types based on milestones achieved at the onset of SMA
- The patient with type III can stand alone and walk, but may show difficulty with walking at some point. Also, with type III, a fine tremor can be seen in the outstretched fingers.
- There is no cure or treatment for SMA, but research provides hope.
What causes SMA?
Spinal Muscular Atrophy is an autosomal recessive disease. In order for a child to be affected by SMA, both parents must be carriers of the defective gene, and both must pass this gene on to their child. When both parents are carriers, the likelihood of passing this gene along to a child and having an affected child is 25%, or 1 in 4. In each pregnancy, there is also a 50% chance the child will be a carrier and a 25% the child will be completely unaffected.
We can say with confidence that Brady's development was completely "normal" until around age two. He actually reached milestones early; there was never any type of delay. During the 3-4 months following Brady's 2nd birthday, we noticed two things. He seemed to trip over nothing when walking and just fall to his knees and then fall backwards and bump his head. We also noticed he wouldn't step down off a curb or step up without holding someone's hand. After observing Brady couldn't step up onto the scale by himself, the pediatrician suggested doing a physical therapy evaluation (March '05). The PT suspected Muscular Dystrophy and sent us back to the pediatrician for a blood test. Normal results. A month later (May '05), we visited a neurologist, who was not at all helpful or concerned about Brady (when comparing him to other conditions he sees everyday). He acted hopeless that we would ever have a diagnosis. Wanting answers, we chose to have a muscle biopsy performed (July '05, 33 months old). The results suggested SMA, but the diagnosis was confirmed with a blood test that tested the specific gene (August '05).
We were thankful to have an accurate diagnosis so we could move forward. Knowledge is power. To be the best parents we can be and provide for Brady's needs, we need to understand everything we can about Spinal Muscular Atrophy.
After relocating to Tulsa, OK from Overland Park, KS in December '05, we were able to find a house that better suits our needs. We now have bedrooms on the main floor, and there are no steps going in/out of the house, a big boost to Brady's independence. Although his muscles won't really get much stronger, routine physical therapy is very important to maintain function and range of motion. Brady is now in 1st grade at our public school, and he's doing great...even riding the bus with Hailey!!
Our little innocent chub bub. At the time of Brady's diagnosis, I was 14 weeks pregnant. We never would've guessed that whatever was going on with Brady was something genetic. Each pregnancy has a 25% chance of producing a baby with the disease (when the mother and father are both carriers of SMA). At 16 weeks, we chose to do an amniocentisis to find out if our baby was affected by SMA. The answer was yes. Currently there is no way to predict the severity of the disease, but usually siblings are similarly affected. The general categories of Type I, Type II, and Type III are based on what milestones have been achieved by the onset of weakness.
Colby was born February, 20, 2006. He is 4 years old and also Type 3 like his big brother, Brady. He does have some weakness (not able to jump or walk up and down stairs), but we think he's stronger than Brady was at the same age.
Hailey is 9 years old and in 4th grade. Like the rest of us, she wants the doctors and scientists to find a cure. She knows they are each God's creation, and He has a special plan for each of them.
Pray for a cure in 2010!
Apr 21, 2011 7:14am
A short story I shared on Facebook yesterday....
A Crazy Beautiful Act of Kindness
At the end of Brady's school day, there was an all-school assembly in the gymnasium. The assembly included at least 1st-4th grade, not sure if Kindergarten was included. You need to know that Brady goes to a B.O.S. - that means "Big. Ol'. School." There are close to three hundred 2nd graders, so, do the easy math, and picture the gymnasium packed full of these little darlings sitting on the floor. First of all, crowds of people = potential danger and risk to Brady. By his own free will and life experience, Brady will strategically avoid crowded, crazy clusters of people, knowing he is at risk to be knocked/pushed/inadvertently plowed down. Brady's class was positioned somewhere near the middle of this large cluster of eager-for-the-day-to-be-over children. For whatever reason, there was not an organized dismissal. The students were dismissed pretty much all at once, which of course, resulted in a mass exodus of the gymnasium. Brady's teacher wasn't with his class....she could only see them from a distance. She couldn't even get to them due to all the small bodies fleeing the scene. **Important Side Note: When Brady stands from a sitting/floor position, he uses the "Gower's maneuver," which is a signature move for children with Muscular Dystrophy. It involves the child pushing their hands against the floor to extend their legs to a locked position, then walking their hands up their legs to achieve a standing position. This means that Brady needs a "bubble" of personal space around him to stand safely without being knocked down in the process. End of side note.** When Brady attempted to stand in the midst of the chaos, he was indeed knocked down, but he was okay. It's what happened next that is amazing and perhaps quite unexpected. What happens next is what makes the story worth sharing. What happened next is absolutely beautiful. (Remember, Brady is in 2nd grade. His peers are 8 and 9 years old.) When Brady was accidentally knocked down by a 3rd or 4th grader, his entire class formed a circle around him that was two students deep. They were protecting him!!! They were keeping him safe! And. No. One. Told. Them. To. Do. It.
Merriam-Webster defines "empathy" as: the action of understanding, being aware of, being sensitive to, and vicariously experiencing the feelings, thoughts, and experience of another...
I am so thankful for Brady's incredible teacher. I have watched her create a sense of community in her 1st and 2nd grade classrooms year after year. She has blessed these children by teaching them life lessons, including empathy. You can never fully judge a teacher by test scores only (where there is too much emphasis and pressure nowadays). What happened today cannot be measured or quantified. It was simply a crazy beautiful act of kindness. We love you, Mrs. D. And we love Brady's classmates - way to go!!!
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XOXOXO --Brady & Colby
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