SMA Awareness: not just muscle weakness

A diagnosis of SMA means so much more than just “muscle weakness and wasting”. Aside from the feeding, swallowing and respiratory issues, there are many other issues that develop because of SMA. Many have orthopedic problems, GI dysfunction, and new research is being conducted regarding autonomic dysfunction in early onset SMA.

Orthopedic problems can also become a major issue for individuals with SMA. Issues vary with type of SMA. Individuals with type 1 can have limited range of motion and can develop contractures due to the inability to move joints within their normal range. They also have poor postural control and alignment because of their profound weakness. They often have progressive scoliosis and this can lead to the necessity for surgical correction. They are also at risk for hip dislocation, increased risk for pain, osteopenia and fractures. Proper postural support, orthotics/braces to prevent contractures, assistive and adaptive equipment and ongoing reassessment are very important.

Research is also currently being conducted to examine autonomic dysfunction in early onset SMA. Autonomic dysfunction is a broad term that refers to the autonomic control of basic bodily functions including heart rate, body temperature, breathing rate, digestion and other systems. It basically refers to the things that happen that you don’t have to think about. According to Dr. Bach, “about 20% of children with SMA type 1 and 2 have slowing of heart rate below 60 beats per minute. At times the slowing is to below 40 beats per minute and results in loss of consciousness.” He also explains that there have been several cases in which children have died suddenly because their heart rate drops to zero.

Most individuals with type 1 SMA are on special diets. While all children are different, and there is some variation, in general most do best on an amino acid diet. Unfortunately, because the research has not been conducted yet, many physicians and dietitians are reluctant and might refuse to right for this diet. It can often be yet another battle we as parents have to fight. And it is so important to do so!! This diet consists of an elemental formula that is easier to digest and has very little fat. Most parents using this particular diet have found their children to have slower/less progression of disease, fewer secretions, less constipation, improved respiratory health and overall improved. Too much fat can result in the baby working so hard to digest their food that they end up burning too many calories and actually struggle with weight gain. Many have found decreasing fat to less than “typically” recommended levels can result in healthy weight gain. Children do still need some fat in their diet. Breast milk is a well tolerated fat that provides calories and fat needed without added complications and side effects. Leo has been receiving donor mild for sometime. We are so thankful to have had friends, friends of friends and strangers reach out to provide Leo with this priceless gift. We have been running very low on milk, so I decided to post to a group on Facebook to see if their were any donors willing to donate to Leo. Once again we were blown away by the outpour of love and support shown to us and Leo. This has taken a stressor out of our lives. The thread is really something to read. So many moms coming together to help give Leo a gift than I can not. It brought tears to my eyes. We are so thankful.

Leo had a great weekend! We went to Charlotte to visit family. Leo loved the Whitewater center! He loved watching all the action and of course being outside! We also had a great trip to Freedom Park. Leo loved getting to play with his cousins and spend time with his family!