Michigan boy with mitochondrial disease takes first steps, gives parents hope

Carter Buffum recently took his first steps.

This may seem like a typical milestone for all new parents. But Joshua and Sierra Buffum weren't sure it their four-and-a-half-year-old boy would ever walk.

Carter has mitochondrial disease, which, for him, has resulted in a loss of motor control and in cognitive impairment.

"It's been really uplifting for us and our family to watch Carter do stuff like this that the doctors said he might never do," Joshua tells MLive. "It gives us hope that he will break through more barriers. We’re pretty emotional about it."

Also see: Boston man quits job on a mission to cure wife's rare cancer

There is no treatment or cure for the disease. Most children diagnosed with it don't live into their 20s. Still, the Buffums are hopeful.

"We are definitely more hopeful," Sierra says of seeing her son walk. "We hope we keep seeing this kind of progress."

"His balance isn’t quite there yet, but we’re hoping that will progress," Sierra adds. "He's sleeping better because he’s wearing himself out more. And because he’s more active, he has his first boo-boos in four-and-a-half years."

The Buffums have established the Carter Buffum Fund to benefit mitochondrial disease research at Ann Arbor’s C.S. Mott Children’s Hospital. In January, a public birthday party for Carter raised $2,500 for mitochondrial disease research. A fundraising walk-a-thon is being planned for next spring.

Also see: Brain cancer survivor fights authorities to keep 'F Cancr' licence plate

Sierra chronicles her family's experience with the disease at mitowarriorsmomma.blogspot.com and on Facebook.

She hopes Carter's story will give hope to other parents of children fighting the disease.

"I always dreamed of being a mother, then I dreamed of my son meeting milestones and now my dreams are to see Carter to grow up! So many unexpected miracles in our lives. I wouldn't trade this life for anything," she writes in a recent post.

"Sure, there are sides to this life that are heartbreaking and devastating. Of course, I wish that Carter's life could be easier and pain free. But each struggle humbles us and reminds us how precious life is. To share these up's and down's with the 'world,' gives Carter's incurable disease some sort of purpose, if you will. I know that when I hear other families stories as they go through similar journey's, it gives me a hope and feeling of support. We are not alone."