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What is SMA?

If you guessed 1 or 10 you are right! #1 is our baby boy Logan. #10 is Chance, a little boy from KS who passed from SMA Type 1 this year as well. 

All of these babies are between 2 & 4 months old. Many parents (including ourselves) are oblivious of the terminal illness until the child starts showing delays. Our hint that something wasn't right was around 3 months of age. Logan couldn't hold his head up for more than 5-10 seconds before flopping back over.

Read all about Logan's journey on the tab to the left (Logan's Story). To learn more about SMA scroll down and for more on the different types, hover over the What is SMA? tab to select which type to read about.

- SMA ( Spinal Muscular Atrophy) is a group of genetic diseases 
characterized by progressive muscle weakness and atrophy. Muscles used for head and neck control, crawling, walking, swallowing and breathing are affected. SMA is inherited in autosomal recessive pattern, where a child has 1 in 4 chances of getting the disease when both parents are
carriers of a defected gene. 

- SMA affects approximately 1 in 6000 newborns and it is estimated that 1 in 40 are genetic carriers. It is the #1 genetic killer of childre under the age of 2. [1]

- SMA is caused by a mutation or deletion of a SMN1 gene (survivor motor neuron). SMN1 gene is responsible for production of SMN protein, which is necessary for survival of motor neuron cells in the spinal cord. With low levels or lack of SMN protein, motor neurons die, causing system wide muscle atrophy. Cerebral and central nervous systems are unaffected. Patients with SMA
often have above average IQs and high degree of intelligence. [2]

SMA is generally classified as types 0 through 4 based on the age at which symptoms appear. The mortality and morbidity rates depend on the type of SMA.

References:

1. What is Spinal Muscular Atrophy. Retrieved from
fsma.org/FSMACommunity/understandingsma/whatissma/
2. Brian Tsao, MD. n/d. Retrieved from emedicine.medscape.com/article/1181436

Could you be a carrier?

Yes! 1 in 40 people unknowingly carry the gene, which is over 10 million Americans.

You could be a carrier of SMA!! Even if no one in your family has SMA or you already have children without SMA.

Carriers of the recessive gene for SMA have no symptoms and are not sick.

How can I get tested?
First, ask your health care provider. A simple blood test can determine if you are a SMA carrier.
If you do not have insurance or your health care provider does not cover this genetic test, there are private companies that do offer this test.  It may be covered by insurance and it also may be an out of pocket expense.

Check out: Counsyl

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