Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common "rare disorder": approximately 1 in 6000 babies born are affected, and about 1 in 40 people are genetic carriers.
SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one’s body - i.e. shoulders, hips, and back) are often most severely affected. Weakness in the legs is generally greater than in the arms. Sometimes feeding and swallowing can be affected. Involvement of respiratory muscles (muscles involved in breathing and coughing) can lead to an increased tendency for pneumonia and other lung problems. Sensation and the ability to feel are not affected. Intellectual activity is normal and it is often observed that patients with SMA are unusually bright and sociable. Patients are generally grouped into one of four categories, based on certain key motor function milestones.
Stella had and EMG and genetic testing which confirmed her diagnosis. Soon after, she lost her swallow which required the gtube, as well as a bipap at night/naps since she cannot exchange her CO2/O2 well on her own. She also uses a cough assist, suction, and we eventually switched from a bipap to a trach.
There is no treatment for SMA but proper management of respiratory care and diet (and a whole lot of prayer) have gotten Stella to where she is today!
More info can be found at fsma.org.
Stella was born on March 28, 2007 weighing in at a healthy 9 lbs 11 oz. At one month of age, she lost all muscle tone and we started our journey with Spinal Muscular Atrophy (Type I). They said she would live weeks or maybe months . . . but look at her now!
I'm so thankful to tell you that Stella will be celebrating her 5th birthday in a couple months! She attends preschool and drives her powerchair with just the use of her fingers! She has two brothers that love her more than anything and she's a blessing to all she meets!
Stella's story is that of a little "star" (that's what her name means!) who has touched so many lives. While there are some bumps in the road, we hope that Stella's life is a story of hope and the miraculous power of God. Through her, we have learned much about strength, courage, and the incredible healing power of our Lord. You can almost SEE the angels that are always wrapped around our little girl through all that she has been through. She handles it with ease and will ALWAYS be our little star.
Contributed by MOM Sarah Turnbull - to read more about Stella check out her Carepage