SMA

Our daughter, Gwendolyn, has Spinal Muscular Atrophy or SMA Type 1. SMA is the leading genetic killer of infants. It is a terminal, degenerative disease that results in the loss of nerves in the spinal cord and the weakness of the muscles connected with those nerves. SMA impacts the ability to walk, stand, sit, eat, breathe and even swallow. The mind and spirit are no different from that of a healthy baby, but the body eventually fails. Typical babies with SMA Type 1 have a life expectancy of between one and two years and they require around-the-clock medical assistance and monitoring.

SMA Statistics:

• SMA is the #1 genetic killer of children under the age of 2.
• SMA is estimated to occur in nearly 1 out of every 6,000 births.
• The gene mutation that causes SMA is unknowingly carried by 1 in every 40 people or nearly 8 million Americans.
• 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.
• Researchers estimate that we are as close as only a few years away from finding a treatment and/or cure.
• Because scientists know so much about SMA, SMA is considered a "model" disease with direct impact on research into many other diseases potentially benefiting millions of people.
  

Newly Diagnosed:

If your child has been newly diagnosed, please read the below information. You have care options. Nothing is a guarantee, but research shows the earlier the intervention, the better chance of lengthening lifespan.

• Consensus Statement for Standard of Care for SMA - Family Guide
• Consensus Statement for Standard of Care for SMA - Full Guide
• Laparoscopic Nissen Fundoplication During Gastrostomy Tube Placement and Noninvasive Ventilation May Improve Survival in Type I and Severe Type II Spinal Muscular Atrophy
• SMA Type 1 Caring Choices (FSMA booklet)
  
• Respiratory Care for Children with SMA (FSMA booklet)
  • Respiratory Care Links
  • Respiratory Care Video

SMA Support:

• SMASpace
• Fight SMA
• Families of SMA
• SMA Support
  
• SMA Foundation
• SMA Medical Supply

SMA Specialists:

• Dr. Ching Wang Pediatric Neurologist and Dr. Nanci Yuan, Pediatric Pulmonologist -- Stanford University
• Dr. Kathy Swoboda Pediatric Neurologist -- University of Utah
• Dr. Mary Schroth Pediatric Pulmonologist -- University of Wisconsin
• Dr. Richard Finkel Pediatric Neurologist -- Children's Hospital of Philadelphia
• Dr. John Bach
• Pediatric SMA Clinic -- Columbia University

Muscular Dystrophy Association (MDA) Clinics

Through 220 hospital-affiliated clinics, MDA offers quality medical care from doctors, nurses and therapists experienced in dealing with neuromuscular diseases. Click here to learn more and to locate your local MDA clinic!

Did You Know -- Carrier Screening?

Did you know there is currently a simple blood test that can be done to determine if you are a carrier of SMA, yet few know to ask for it. The American College of Medical Genetics recommends that SMA carrier testing be made available to ALL couples planning a family, regardless of ethnicity, family history, or prior children. For more information, please visit the Claire Altman Heine Foundation.