On December 31, 2009, Oscar, then 14 months old, was diagnosed with type II SMA.
The Oscar-Go website was created in 2010 to help raise awareness for SMA (spinal muscular atrophy), to keep people informed of the goings-on of Oscar, and to provide a platform for support in times of need. Most of all we hope that Oscar-Go is helping break barriers between the able-bodied community and the other-abled community and helping to build community awareness around disability issues.
What is SMA?
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease, which causes severe weakness throughout the body. The weakness begins concentrated in the muscles closest to the spine but it can and will effect most skeletal muscles throughout the body. This is a rare disease. Approximately one in 6,000 people are born with SMA. In addition to affecting mobility, respiratory health is of the utmost importance to folks with SMA. Weakness in the chest wall makes it difficult to clear secretions in the lungs that accompany a common cold. This can lead to respiratory infection, which ultimately could be fatal.
Are there different types of SMA?
There are four types of SMA. The most common type is also the most severe: type I. Babies are usually diagnosed before six months, and never gain enough strength to sit up on their own. Type I SMA is the number one genetic killer of infants.
Folks with type II (what Oscar has), are usually diagnosed by eighteen months and never walk, though some do crawl or pull up to stand (Oscar never did). For any amount of independent mobility, a power wheelchair is required at an early age.
Folks with type III do walk at an early age. Some maintain this ability and simply weaken, preventing them from traveling long distances by foot, or from carrying heavy objects. Others do require manual or power wheelchairs at an early age.
The most rare type of SMA is type IV, or adult-onset.
For more information about SMA, please visit www.fsma.org
How is SMA inherited?
One in forty people are genetic carriers of SMA. In order for a child to be affected by SMA, both parents must be carriers. If both parents do carry SMA, there is a one-in-four chance their offspring will have SMA.
What causes it? How does it occur?
SMA is the absence of the SMN1 gene, or the survival motor neuron gene, which is responsible for about 80% of motor function. A person unaffected by SMA has two copies of this gene. A carrier of SMA has only one copy of this gene and has completely normal motor function; many carriers have no idea they carry SMA. There is a back-up gene, SMN2. What little motor function a person has with SMA comes from this gene. The more copies (4 is maximum) a person affected by SMA has of SMN2, the better. Oscar has three copies, which is generally considered good news.
What is the life expectancy?
The range is too great to put a number down. Prognosis for type I is not good. Most die before age two. However, many type I children have defied the odds and lived long enough to go to school, even into their teens or twenties. Folks with type II (what Oscar has) have been known to live into their fifties, though many do not make it past childhood. There are too many variables to give a guess. Respiratory infection is the leading cause of death among folks with SMA.
Will Oscar ever get better? Is there a treatment or cure?
There is no known cure or treatment for SMA. There are many therapies (physical therapy, occupational therapy, respiratory therapy) which all help improve the quality of life and potentially improve longevity, but there is no cure. However, SMA is on the radar of the National Institutes of Health and the National Institute of Neurological Disorders and Stroke, as a rare disease they have some hope for finding a treatment or cure for. The genetics and chemistry of SMA are well understood by researchers, so there is a great deal of hope in gene therapy and/or stem cell research. Despite this amazing advantage, it could still take hundreds of millions of dollars and decades before a cure is found.
What kind of care does Oscar need now? What kind of care will he need in the future?
Oscar is followed by six doctors: his general pediatrician, two neurologists (one locally and one SMA specialist at Johns Hopkins), a pulmonologist, an orthopaedic doctor, and a sleep medicine doctor. He receives physical therapy, occupational therapy, and aqua therapy every week. He has a twice-daily respiratory therapy regimen which includes nebulizer, chest PT, and cough assist machine. He requires daily stretching to keep his muscles from becoming too tight. He uses a stander, a manual wheelchair, and a power wheelchair. In the future we can expect to add on a bi-pap machine for sleep apnea, spinal fusion surgery to correct the scoliosis that he will develop, and a whole host of other unknowns.
What can Oscar do? What can’t he do?
Oscar can feed himself with a small, lightweight spoon and fork. He uses shallow bowls to help reduce the effort of getting food out of the bowl. Oscar’s neck muscles are weak so if leans his head too far forward (toward his food or a toy or a book or in the joyous movement of a young child) his head flops forward and he often can’t lift it back up himself. Oscar can lift small books, legos, and other light-weight toys to about chest level. Empty-handed Oscar can raise his hands to shoulder height and in certain positions, when he’s feeling energized, he can raise his hands right over his head. When in his power chair Oscar can reach light objects off shelves at hand height but his grasp is weak and many things he attempts to get do fall to the floor. He has been holding a pen with an advanced pincer grasp since he was fourteen months old. His fine motor skill is exceptional, but is sometimes hindered by his muscle weakness. He can’t crawl, or stand on his own. He can usually roll from side to side unassisted, unless he’s really tired, but he can’t roll from front to back with out help.
Keep checking back here, and to our home page/blog for further updates. Please share this site with friends and family to help raise awareness for SMA and disability issues!