Spinal muscular atrophy (SMA) is the leading genetic cause of death in babies under the age of two.  It affects families of all ethnic predilections, often with no prior history of the disease. Newborns with SMA appear healthy, but over time their lack of muscular development is debilitating.  While intellectual development remains normal, muscle weakness often leads to respiratory failure and generalized failure to thrive. There are three types of SMA, each with varying degrees of severity and limited treatment options. With as many as 1/40 individuals unknowingly carrying the recessive gene for SMA, genetic screening for parents-to-be is the best option for prevention.

The American College of Medical Genetics (ACMG) recommends that all couples planning a pregnancy be offered SMA carrier testing.  The purpose of this recommendation is to give families adequate time to make informed reproductive decisions.  Unlike the ACMG, the American College of Obstetrics & Gynecology (ACOG) has not yet made a formal recommendation regarding SMA screening.  The discrepancy between these two highly-respected professional bodies leads to inconsistent practices among physicians —some offer it and some do not —leaving the onus of prevention on patients.  It is for this very reason that awareness about SMA and the availability of carrier screening is so important.

Deb and Chris Heine gave birth to their daughter Claire in 2004. At 8 weeks of age, the

pediatrician noticed that Claire was “floppy” and referred her to a pediatric neurologist. Over the

next week, the family had multiple visits with specialists in physical therapy, respiratory therapy,

pulmonology, and gastroenterology. A feeding specialist visited the home several days per week, and eventually, oxygen machines were set up in Claire’s room. All the while, the family struggled to keep life as normal as possible for their 4-year old son. After several bouts of pneumonia, Claire died at nine months of age, surrounded by loved ones at home. “I don’t mind that I am a carrier of SMA,” says Chris. “I just mind the way I found out.”

The desire for a healthy child is universal.  Without question, children born with SMA have a compromised quality of life.  Any parent of a child with a chronic health problem can attest to the fact that family and social dynamics change in response to the needs of the child.  As parents of children with SMA prepare for the insertion of feeding tubes, multiple surgeries, therapeutic care and the like, their personal relationships shift.  One parent may have to stop working to care for the child, and healthy siblings sometimes take on larger responsibilities.  Anecdotally, parents of children with SMA report that the experience changes them forever.  Though strength and courage come out of love and devotion to these children, emotional and financial stress are inevitable.  The lifetime cost of caring for a child with SMA ranges from $260,000 to $3 million.

In retrospect, it is difficult for any parent to state that they might have done things differently if they had known their risks ahead of time.  After the loss of a child to a disease like SMA, many parents use their genetic status to inform future reproductive decisions.  They may also advise relatives of their potential risk to bear a child with the same disease. As SMA awareness month comes to an end, think about anyone you know who is planning to start a family and remind them to ask their doctor about SMA screening.  More importantly, in honor of every family that has ever lost a child to SMA, start spreading the word.

Shivani B. Nazareth is RARE Blog contributor and a board-certified genetic counselor with Counsyl, Inc. For more information about carrier screening for rare disorders, visit www.counsyl.com.