SMA *spinal muscular atrophy and what Nancy told me about it

I have had the term SMA (spinal muscular atrophy) on my mind a lot since last Dec and have shared a little of what I know --but Nancy did an outline that was reader friendly and helped me to understand it affects more, so I asked her if I could post it here. so read on if you want to have some answers to questions that Nancy is commonly asked ----------- ____________________________________________________

Nancy shared these questions and /answers

I can't thank you enough for your kind words, your prayers and your friendship. I have truly felt strengthened and loved because of the thoughtfulness of so many people!

Funny how 4 months ago Spinal Muscular Atrophy (SMA) was not even a part of my vocabulary and now I am trying to become at expert about it. When I was at Primary Children's with Kyle they had a mother of another child with SMA come down to talk to me. She started talking with Dr. Swoboda and throwing out acronyms that meant nothing to me. I got tears in my eyes and said, "I don't even know what you are talking about." "Don't worry," they replied. "You'll be using all this lingo in no time."

As I have been learning and as people have found out our circumstances, they have asked what having Spinal Muscular Atrophy means. So, I thought I would answer some FAQ. Feel free to scroll down (It is kind of long) and read what it is you want to know. Here is my best effort to answer some of the questions that I am still learning the answers to. Some of these are answered in my own words and some are copied and pasted from the website of the doctor we go to!

What is SMA?
A neuro-muscular disease.
The longest nerves are affected first (that is why Megan's legs were affected first.) Over time you lose the use of your arms, ability to sit up unassisted, and develop weakness of chest muscles involved in breathing. Scoliosis develops in virtually all children at some point, and they are prone to bone fractures. Contractures of the muscles and joints can limit function over time (Megan already has leg contractures, which is why she sleeps in the braces at night.) Children in may also demonstrate difficulties in swallowing and chewing, and require close monitoring of nutrition. Lifespan depends on the severity of respiratory muscle weakness, but many children survive well into adulthood.

How common is SMA?
Spinal muscular atrophy occurs in approximately one in 6,000 -10,000 live births. However, read the answer to the next question to see why the likelihood of Kyle and Megan both having it was so high.

What causes spinal muscular atrophy?
There is a gene called survival motor neuron (or SMN). Everyone should have 2 of this gene. If you have only 1 of this gene you are fine. When you have 0 of this gene you have SMA. In order to have 0 of this gene each of the parents has to have only one of this gene. Since Steve and I have only 1 of this gene (who knew? this is determined by the fact that our kids have 0 of this gene) then our children have a 1 in 4 chance of having SMA.

What are the Symptoms of Spinal Muscular atrophy?

We noticed with Megan around 9 months that she was still unable to bear any weight on her legs (If you stood her up to the couch her legs just buckled and she fell down, whereas most kids that age can cruise along the furniture, etc.) Read the answer to the first question about what SMA is to see the other symptoms.

How is spinal muscular atrophy diagnosed?

They collected blood and sent it to a lab in Ohio for genetic testing.

How does this affect us right now?
Right now both my kids are just at the beginning. So at this point in the progression it mostly has to do with meeting their physical needs of getting around and staying healthy.
Here is a list of a few of things I have to do now that I know they have SMA that I didn't have to do before or that you probably don't have to work into your daily schedule:
1. Give medicine. I run my own little pharmacy in the morning. Megan takes a daily vitamin and carnitin in the morning and then the carnitin again at night. In the morning for Kyle I mix 2 ounces of formula, ½ tsp. of his medicine, and 3 packets of sun crystals and pour the mixture into four bottles that I keep in the fridge and give 4 times throughout the day.
2. Keeping my kids as active as possible. The more they use their bodies the longer it takes them to lose the ability to do what they are doing. One example of this is in order to help Megan keep her ability to raise her hands above her head instead of just handing her the lego to make a tower, I hold it high in the air so that she has to reach up and grab it and then push it onto her tower. We play with a lot of toys that require resistance (legos, sit and spin, velcro play food, etc.)
3. Physical Therapy. A physical therapist (Kim) and an occupational therapist (Mary) come to my house twice a month (every Friday one of them comes) and then twice a month I go to the Payson Hospital Pool with Megan and Kim.
4. Megan also stands in her stander 1-2 hours a day.
5. Megan sleeps in braces at night. I lay by her while she falls asleep because if she wants to roll over she often needs help to do so when in her braces.
6. Megan has a wheelchair.
7. For Kyle we will go to Primary Children's every 2 months and for Megan every 6 months.

What is the good news?
They say that those who are blind make up for their loss of sight with other senses. With SMA the kids are usually very smart. This you can definately see in Megan. With everything she is not using to walk she is using to talk. She turns 2 next month but can already count to 20, sing lots of songs, express herself and has many of the books we read to her memorized.

Both my children are sweet little blessings from our Heavenly Father to our family.