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Mom who lost son to mitochondrial disease fights for better treatments, cure

Linda Ramsey didn’t discover the name of the terrible disease that claimed the life of her 1-year-old son, Kevin, until after he died in 1997.

Kevin was fine his first couple of months, but as he grew his body wasn’t giving him the energy he needed to prosper. He struggled to swallow and started missing milestones.

"He wasn't sitting up,” his mother said. “He couldn't hold anything. He never crawled. All of those were symptomatic of failure to thrive. We saw neurologists. We saw cardiologists, physical therapists. We met with every specialist there was."

A muscle biopsy later showed that Kevin succumbed to Leigh’s syndrome, a genetic condition tied to mitochondrial disease. Ramsey reached out in the months after her son's death to the United Mitochondrial Disease Foundation (UMDF), determined that – one day – no other family would know similar heartbreak.

It’s why she leads a monthly support group for those touched by mitochondrial disease, which damages the mitochondria designed to help cells bring the vast majority of energy to our bodies.

It is also why Ramsey and dozens of others will participate Saturday in the regional Energy for Life Walk. The walk starts at 1 p.m. in Cheektowaga Town Park, Harlem Road at George Urban Boulevard. Register online at energyforlifewalk.org/westernnewyork, or at noon at the Lion's Pavilion near the starting line of the walk.

Proceeds from this and similar walks around the world are designed to raise awareness and research money to fight mitochondrial disease. The effort has helped more children and adults with the disease lead fairly normal lives, according to the foundation, but, depending on where the illness strikes, some lose their hearing, sight or ability to talk. Others see drastic changes from an active lifestyle to a debilitating illness, and sometimes death.

“There are treatments but there's no cure,” said Ramsey, 50, assistant to the director of counseling services at the University at Buffalo and the mother of a daughter, Kate, 24.

Q: It's hard to diagnose mitochondrial disease?

Mitochondrial disease research also can help researchers better understand the causes of many more common diseases, says Linda Ramsey, who leads a Mito Support Group at 6 p.m. the third Thursday of every month in Williamsville United Methodist Church, 5681 Main St., in the village. Email lramsey47455@roadrunner.com for more info.

That's correct. The symptoms present differently in every individual. They also overlap with other autoimmune diseases. People often get diagnosed with other autoimmune diseases before they find the root cause being a mitochondrial dysfunction. Luckily it is becoming more understood and studied in the medical community. The name of my walk team has always been Ramsey's Silver Lining, because out of this whole tragedy for me, I've seen the growth of the UMDF, and watched people get diagnosed quicker and get treated quicker.

Q: Once you're diagnosed, what are the prospects for treatment?

Every individual is different. About half of those diagnosed with mitochondrial disease have a genetic component. The other half is from environmental factors.

When you have a mitochondrial dysfunction, somewhere in your metabolic chain, something breaks down. ... When the body isn't producing enough energy, sometimes that's going to result in severe muscle and overall body fatigue – at first. In some people, it's going to affect their digestive tract, and it will shut down. In other people, it will affect their heart; in other people, their eyes. The parts of our bodies that take the most energy are the major organs.

What's encouraging is that we know that mitochondrial dysfunction is at the core of many of the more common disorders: Alzheimer's, Parkinson's, ALS [amyotrophic lateral sclerosis, or Lou Gehrig’s Disease], autism and some cancers, because it's a metabolic breakdown – so research into this is research into a whole world of common, life-threatening diseases.

Q: What will the walk be like?

It is a wonderful day of support and a chance to meet others who share a similar bond. Everyone is welcome at our walk to come and learn about metabolic function and health. You don't have to walk or even have a team. You don't even need to donate if you aren't able. There are kids and families that you see each year there and you can catch up and see how they are doing. You share some tears and some smiles. There is a large basket raffle, live music, literature and resources, UMDF apparel, and snacks, fruit and pizza.

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