Maureen Cohen via Crowdrise
December 16, 2010
BENEFITING: SOPHIAS CURE INC
EVENT DATE: Dec 16, 2010
SMA is a degenerative terminal disease, there is no cure and there is no proven treatments to help slow the progression of the disease. The body slowly begins to fail. The body does not produce a particular protein which enables the motor neurons in the spinal cord to survive. Eventually the muscles that were produced while in the womb will start to atrophy without the motor neurons to control them. SMA is a deletion of the Survival Motor Neuron 1 (SMN1) gene. Eventually the child loses the ability to eat, swallow and breath on their own. The child will never be able to lift the head, sit up, roll over, crawl or walk like any other healthy child. Even though the body fails, the mind remains unaffected. SMA children require around the clock care, treatment and monitoring.
- SMA is the leading genetic killer of children under the age of two.
- SMA is estimated to occur in nearly 1 out of 6000 births.
- 1 in 40 people unknowingly carry the gene responsible of SMA.
- 2% of SMA type I cases happened when only one of the parents was the carrier.
- The chances for parents (SMA carriers) to pass the gene along and/or having a child with SMA is 25% or 1 in 4.
- SMA is a pan-ethnic disease and does not discriminate based on race, ethnicity or gender.
- Typically babies with SMA Type I will not live past the age of two.
- There is currently no treatment and no cure, but the National Institutes of Health (NIH) and the National Institute of Neurological Disorders and Stroke (NINDS) selected SMA as the disease closest to treatment of more than 600 neurological disorders.
- Researches believe the cure could be as close as few years, if properly funded.
- The cure for SMA will help treat and/or cure at least 20 other genetic diseases like Tay-Sachs, Alzheimer's, Cerebral Palsy, ALS and Cystic Fibrosis.
According to the NIH: “Spinal Muscular Atrophy was chosen because of the severity of the disease, its relatively high incidence, and the fact that the gene has been identified and the gene product is known, resulting in leads on possible treatments. There is a gap in funding to advance research on SMA, but if progress can be made, it would have implications for other diseases."
Unfortunately SMA is considered an “orphan disease”, which means all money raised is through families affected by this disease in their quest to find a cure for their children, and it is not profitable for a pharmaceutical company to invest money into finding a cure or treatment. It is often overlooked and forgotten about amongst much more “popular” diseases.