Even though spinal muscular atrophy (SMA) is the number one genetic killer of children under the age of two and is estimated to occur in 1 in 6000 births, all too often parents tell of a long and stressful path to their child’s SMA diagnosis. Many times this is simply due to a physicians inexperience with SMA and so the signs of the disease are not immediately recognized. But, the story of the Hoskins family of Greencastle, Indiana seems particularly burdensome. It involves ignored symptoms, lost medical tests, a misdiagnosis, and months of unnecessary intravenous treatment.

Thankfully, Zion Hoskins, just short of his second birthday, is doing well. His mom, Chelsea said, “It’s hard to watch him struggle. He’ll fall over, but he gets back up and keeps trying.” Even though Zion’s parents know that the future will likely include feeding tubes, breathing machines, and wheelchairs, they are optimistic that their son will have the opportunity to enjoy many of the same experiences as his peers. “It’ll be interesting to see how things progress,” Paul, Zion’s father, said. “I like to think Zion is going to prove all the doctors wrong.”

Read their story by clicking here.

If I had my way, there’d be a swimming pool in everybody’s backyard. - Dr. Bob Leshner, M.D.

In this preview of the new FightSMA / Metro Productions sponsored webisodes, “Fighting Back,” FightSMA President Martha Slay interviews Dr. Alex Mackenzie (Children’s Hospital of Eastern Ontario) and Dr. Robert Leshner (Children’s National Medical Center), asking a few questions that are on the minds of spinal muscular atrophy (SMA) parents everywhere.

Click the above video to watch the interview, and keep logging on to FightSMA.org for more interviews, video content, and more!

Thank you to Metro Productions, our partners in this fight, for their generous gifts of time and expertise in the pro bono production of these videos.

Genzyme Genetics, a part of Genzyme Corporation, has announced that “it is the first national laboratory specializing in reproductive testing to provide population carrier and prenatal diagnostic testing for spinal muscular atrophy (SMA)….This test will enable couples who are planning a pregnancy, or who are already pregnant, to determine if they are carriers and at risk of having a baby with SMA.”

From the company’s press release:

The Genzyme Genetics SMA test offers results in approximately 7 to 11 days and is expected to have an approximately 94 percent detection rate of carriers overall and approximately the same detection rate for the most common and severe types of SMA in affected fetuses. SMA is characterized by progressive muscle degeneration of motor neurons, resulting in severe muscle weakness. In 60-70 percent of cases, children with SMA die from respiratory failure by age two.

Greater than 94% of SMA carriers have a deletion of one SMN1 gene. Genzyme’s new test utilizes quantitative PCR (polymerase chain reaction), a technology that can determine the number of SMN1 genes. An individual with one SMN1 gene is a carrier of SMA; a fetus with no SMN1 genes will be affected with SMA. SMA is caused when both parents have only one SMN1 gene. Approximately one in 41 people is a carrier of the SMA-causing gene, resulting in an incidence rate of 1 in 6,000-10,000 births. If both parents are found to be carriers, prenatal diagnosis by chorionic villi sampling or amniocentesis is available.

Genzyme Corporation was a sponsor of the 2007 FightSMA Annual Conference and is scheduled to participate in the 2008 conference next week.

To read the full press release, click here.