Walking forward after 1960s heartbreak

Martel family fundraises for fatal childhood disease

Date Published: 
April 21, 2017

Coastal Point • Laura Walter: After losing two babies to a genetic disease, the Martel family continues to support research for spinal muscular atrophy. Pictured here are parents, Pat (front) and Ken (right), and their adult children, Brian and Anne.Coastal Point • Laura Walter: After losing two babies to a genetic disease, the Martel family continues to support research for spinal muscular atrophy. Pictured here are parents, Pat (front) and Ken (right), and their adult children, Brian and Anne.When baby Michael Martel was taken to the hospital in February 1962, his parents never imagined that he wouldn’t come home again.

Then living in Baltimore, Ken and Pat Martel said doctors couldn’t properly diagnose their firstborn’s genetic disease until he died a few days later.

While dealing with their grief, the Martels raised two healthy children, but then suffered another loss. Their fourth and final child, Scott, showed signs of the same disease, spinal muscular atrophy (SMA), which destroys muscle control and causes overall weakness.

Scott and Michael were both dead at about 8 months old.

But the family is using their grief for good. Now spread across Ocean View, Millville and Maryland, the Martels are coming together at Coastal Delaware Running Festival on April 22. “Team Martel Boys” are walking the Dewey Beach 5k race. It’s a full family of parents, children, spouses and grandchildren. But they still feel the void of dual tragedies, over 40 years old.

According to the Genetics Home Reference in the U.S. National Library of Medicine, SMA causes people to lose motor neurons in the spinal cord and brain stem. This causes weakness and wasting of the muscles, so babies usually cannot crawl, walk, sit up or hold up their heads. Breathing and swallowing can also be affected.

The doctors offered an oversimplified excuse: “‘He was slow,’” Ken said. “Nobody really knew what it was or what he had.”

In fact, pneumonia was Michael’s official cause of death. Babies have trouble breathing because of atrophied muscles, so they can’t cough out an infection or fight it off.

But Pat was scared. Already pregnant with their second child, Pat wondered what risks baby Anne would face.

“I really was surprised at how fast you were born because Michael took his time,” she now tells Anne Martel. “I knew the difference because, carrying her, she would punch and poke. She was lively,” but Michael had been more sedate.

About three years later, Brian Martel arrived healthy, too. And Pat was constantly checking. She poked and prodded the babies, to see if they’d respond by drawing their little arms and legs away from the offending pinches.

But in 1970, when Pat was preparing baby Scott for his baptism, she accidently pricked him with a pin. She was devastated when he didn’t immediately withdraw his leg.

Looking back, Pat remembers that neither boy cried very loudly or moved very much. Most infants appear to be born healthy, but their muscles weaken over time, Anne said. Their cognitive skills aren’t affected, so the kids are all there, mentally.

“[Scott] was a good baby. He had wise eyes,” Pat said. “You look at him and he just looked like he knew a lot of stuff.”

Brian remembers that Scott would smile and never complain, but jokes that the baby didn’t appreciate Saturday cartoons as much Brian did.

Brian was age 5 when his little brother went into the hospital. Anne was 8.

As children, they mostly remember asking which relative or neighbor would be picking them up each day, since their parents were always at the hospital.

Pat remembers seeing her youngest child with IV tubes connected to his ankles and head.

Scott died a few months later, in November of 1970.

“I had no idea he was never coming home,” Anne said. “I remember being in total shock, like not even believing it. I didn’t know that was an option,” since her parents were practicing with feeding tubes for home nursing.

“I thought about asking you guys to pray to God or Jesus, to let him come home [with us],” Pat tells her adult children. “But I knew he was going to go, and I didn’t want to have to explain that.

She didn’t want her kids to be disappointed when praying didn’t work.

Back then, the Martel boys were diagnosed with Werdnig-Hoffman Disease, which has been re-categorized as Type I SMA.

Both parents had the same gene defect, which produces a 25 percent chance of any offspring having SMA.

Years later, when grandchildren started to arrive in the 1990s, the family was watching their every move. How strong were the limbs? How strong was the neck?

Genetic testing is now available, so the grandkids will likely get tested if they ever consider having children, in case their partners also carry the same gene.

Walking for a cure

In the running festival, Team Martel Boys is using the 5k as a fundraiser for Cure SMA, a national nonprofit with a two-pronged approach: support SMA research while supporting parents and siblings who deal with it every day.

But as young parents, the Martels did not have that kind of support system. The disease was barely understood, and recent science has corrected many misconceptions since the 1960s.

“We got very little help,” Pat said.

“Well, nobody knew anything,” Ken said.

This weekend will be the first time Ken and Pat even meet other parents who lost children to SMA.

That’s why Saturday’s race is such a big deal, Brian said. Cure SMA brings people together, and his family has already raised about $3,200 for the cause.

Decades have passed, but will not erase the pain of losing two baby boys. Pat tears up at the memory.

But their death laid a path for Anne’s life. She became a pediatric nurse for kids with complex medical needs, and she now works in medical research.

Back in the 1970s, every Labor Day, the family hosted backyard carnivals or collected money door-to-door for the Muscular Dystrophy Association telethon, featuring Jerry Lewis.

Now, Anne’s children volunteer at the national Cure SMA conferences, helping other children who are dealing with the disease.

Make no mistake, this is still a brutal disease. Even with treatment, the life expectancy for Type I patients is often about 2 years. Without treatment, life expectancy is about eight months.

“Even today I think there’s a lack of awareness — because it’s so rare — with pediatricians to pick up the signs early,” Anne said. “Especially now that there’s a therapy, it’s so important to recognize and get a baby into the right [specialists].”

The disease can affect all ages, coming in four types, based on the age of onset, generally appearing in infancy, young childhood, young adulthood or middle age. Infants don’t sit up. Young children don’t stand independently. Adults lose the ability to walk.

Currently, there are efforts to improve screening, and Anne has heard of teenagers who have survived from childhood, but only with a respirator and much support.

The fundraising webpage for Team Martel Boys is http://events.curesma.org/site/PageServer?pagename=CoDelaware_Marathon_H....