If you read my post entitled “Weeping may endure for a night, but joy cometh in the morning.” then you are aware that our youngest son Gabriel is battling Spinal Muscular Atrophy or SMA. If you haven’t read it, SMA is the number one genetic killer of children under age two in the world.
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.
Spinal Muscular Atrophy (SMA) refers to a group of inherited diseases of the motor nerves that cause muscle weakness and atrophy (wasting). The motor nerves arise from the spinal cord and control the muscles that are used for activities such as breathing, crawling, walking, head and neck control, and swallowing. SMA is a rare disorder occurring in approximately 8 out of every 100,000 live births, and affecting approximately 1 out of every 6,000 to 10,000 individuals worldwide.
SMA affects muscles throughout the body. In the most common types, weakness in the legs is generally greater than in the arms. Sometimes feeding, swallowing, and respiratory function (e.g., breathing, coughing, and clearing secretions) can be affected. When the muscles used for breathing and coughing are affected and weakened, this can lead to an increased risk for pneumonia and other respiratory infections, as well as breathing difficulty during sleep. The brain’s cognitive functions and the ability to feel objects and pain are not affected. People with SMA are generally grouped into one of four types (I, II, III, IV) based on their highest level of motor function or ability. (1)
Gabriel is a Type 2 meaning unlike a Type 1 he has a longer survival rate. How long that rate is something we don’t know. Most Type 2s did sit up but never stood or walked. He did sit up and was trying to stand when at 9 months he started to regress. We had been told that he would never stand much less walk. We had accepted this fact and have been working with the Shriner Children Hospital in Lexington, KY along with National Seating and Mobility to order his very own wheelchair. This changed in July when his physiatrist talked to us about possibly using a special brace system called RGOs or Reciprocating Gait Orthoses. These are used to help people with lower extremity paralysis to possibly stand and walk.
Gabriel was first cast so they could make special molds so they could create the braces. After a few weeks we got the call saying they were ready. He was not happy when they first put the RGOs to make sure they fit him and make any adjustments that were needed. He wore them a little yesterday and last night with Daddy’s help he stood for the first time. Just like any proud Mamma I took photos of this special occasion.
We are so happy to share this special moment with you all my dear readers.
Until next time…