On Tuesday, October 29, 2013, we were sent to a Pediatric Neurologist to find out the underlying cause of Ellie's hypotonia (low muscle tone). We did some research prior to our visit so we had some idea what we may be facing. Spinal Muscular Atrophy (SMA), Type 1 was diagnosed right away.
What is SMA?
Spinal Muscular Atrophy is a rare genetic disease of the motor neurons. Motor neurons are used for many daily activities such as head control, sitting up, crawling, walking, breathing, and swallowing. Respiratory function is eventually compromised which ultimately leads to death. There is no current cure or treatment for SMA and the prognosis for Type 1 babies is not good. Most type 1 cases do not survive to 2 years of age and some only live months or weeks after birth.
More facts about SMA
1 out of every 6,000 babies are affected by the disease
1 in every 40 people are carriers of the SMA gene
The brain's cognitive functions are not affected
Because we had never heard of SMA prior to a few weeks before Ellie was diagnosed, we feel it is so very important to raise awareness as this is the number 1 genetic killer of babies under 2 years of age. You can help by telling someone you know about this disease. The more people that are aware of SMA, the easier it will be to fight for a cure. We want people to know they have the option to be tested for the SMA gene in hopes that we may be able to prevent other families from this outcome.
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| This is Ellie's NJ tube, the safer way to consume her milk from now on. :-) |
Our New Path
Although this diagnosis can be devastating, we also realize just how
lucky we are to have such a special angel grace us with her presence. We
are determined to celebrate her beautiful soul and life every single
day. Please smile when you think of our Bellsy. She is always smiling and she brings so much joy.
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| The day we came home from the hospital, our adorable little pumpkin celebrated her first Halloween. |
