By Suzanne Sprague, KERA 90.1 reporter
Dallas, TX – Suzanne Sprague, Reporter: Just a month shy of her third birthday, Lanie Hannah of Weatherford seems just like any other toddler.
[child starts to sing "Jesus Loves Me"]
Sprague: ...except when she walks...
[sound of leg braces and walker]
Sprague: Lanie gets around either in a wheelchair or with leg braces and a walker because less than a year ago, when she quit standing and crawling up stairs, a doctor diagnosed Lanie with Spinal Muscular Atrophy.
Lanna Hannah, Lanie's Mom: Even when he told me we were testing for SMA, it meant nothing to me. Nothing.
Sprague: Lanie's mother, Lanna, says hearing the diagnosis felt like getting hit by a truck. About 1,000 American children are born with SMA each year. They've inherited a defective gene from each of their parents. Many die before they're two years old. And, the ones who survive are often confined to a wheelchair and ventilator because their muscles are so weak. Today, Lanie Hannah's a bit smaller than other children her age. But she's bright and witty and very eager to grow up.
Hannah: What's hard now is the emotional and social. She's older and she notices the other kids. I get a lot of, "Mom, when I'm five can I play soccer?" because her brother played soccer. "Mom, when I'm five, can I dance?" because her cousins take dance. So that's hard. But they're making strides every day. I just tell her, "Lanie, they're working on medicines, so maybe when you're five you can take dance."
Sprague: The foundation for the all-important clinical trials that would test those medicines is being laid here in Dallas at Scottish Rite Hospital.
[computer beep, "OK, breathe!" Computer noise. "Go. Go. Go. Just one candle left." "I always get them except for one."]
Sprague: Ten-year-old Bradley from Hope, Arkansas, makes the trek to Scottish Rite once a month so a technician can check the strength of his lungs with a computer.
[breathing in and out. "Come on! Deep. Deep. Deep."]
Sprague: Bradley is one of 80 SMA children at five U.S. hospitals participating in a pilot drug project. The project isn't testing a drug to cure SMA. It's developing a methodology for determining how effective the drugs in development might be. Some kids take a placebo. Others are given Creatine, a nutritional supplement that's thought to increase muscle strength. Then they're run through a battery of tests to find out which tests are best at detecting changes in the children. Doctor Susan Iannaccone, a pediatric neurologist at Scottish Rite and UT Southwestern, is in charge of the study.
Dr. Susan Iannaccone, Neurologist: We hope as a result of the basic research that's being done right now that there will be a drug available for what's called Phase 3 trials within the near future.
In phase three trials, drugs that have proved safe and effective in lab animals will be given to children.
Dr. Iannaccone: That's why our project is so important, because it means we will be ready immediately to plug something into a Phase 3 trial.
Sprague: Many researchers are guardedly optimistic that a suitable drug for a Phase 3 trial could be available in two to three years.
Dr. Kenneth Fishbeck, NINDS: And I think that that goal is within our reach. It's like a light at the end of the tunnel at this point.
Sprague: Dr. Kenneth Fishbeck is with the National Institute of Neurological Disorders and Stroke in Bethesda, Maryland.
Dr. Fishbeck: What's being done now is to identify drugs that work in correcting the defect, the genetic and biochemical defect of SMA without harmful side effects. The pieces are all coming together. The drugs are all coming through the pipeline. The treatments are being developed. And at the same time, the clinicians are coming together, ready to take these drugs and try them in patients.
Sprague: The critical breakthrough came in the late 1990s, when researchers discovered which gene causes the disease. Dr. Susan Hesterlee is the director of research development at the Muscular Dystrophy Association.
Dr. Susan Hesterlee, MDA: The gene that is defective in spinal muscular atrophy is called SMN. And even if the SMN gene is defective, there's a backup version. It doesn't work quite as well as it should, but it's there. So instead of having to replace the whole gene, maybe we can just stimulate that backup gene. And that's what's really got people excited. It's such a good target for therapy.
Sprague: One of the problems right now is toxicity. The drugs that are effective are also too dangerous to use in children. Finding a less dangerous drug, say doctors, means finding a new source of money. Again, Kenneth Fishbeck.
Dr. Fishbeck: What's really needed at this point, I think, is more funding in this area, more support from the government as well as from the voluntary organizations and support, ultimately, from the public.
Sprague: The National Institutes of Health spend about $5 million a year for SMA-related research. Compare that to the $30 million for ALS, or Lou Gehrig's Disease, a similar illness that primarily affects adults. Advocacy groups are shopping the halls of Congress now for a legislative sponsor of a bill that would increase SMA funding. But Martha Slay, president of Andrew's Buddies, one SMA advocacy group, says public awareness is a big obstacle.
Martha Slay, Andrew's Buddies: It is of course disappointing for someone to met you and they've never heard of SMA but it's not surprising. I mean, even though 1 out of 30 people carry this gene, it has been relatively obscure. There have been, I would say, waves of interest in SMA and our intention right now is to catch the next big wave for SMA at this point in history when the science is so promising.
Sprague: The question lingering for the Hannahs of Weatherford is whether a drug will be found in time to reverse the effects SMA has already caused in two-year-old Lanie. As she drives her daughter home from Mother's Day Out, Lanna Hannah says she's determined to provide Lanie with the same future as any other child.
Hannah: We're starting piano lessons tomorrow. I just told her, you might not be able to do that other stuff, the dance, but we can do piano, so we're going to piano lessons, starting tomorrow.
Sprague: In the meantime, she holds out hope for a cure. For KERA 90.1, I'm Suzanne Sprague.
To contact Suzanne Sprague, please send emails to ssprague@kera.org.