Stephanie Deady is a little apprehensive about attending her first MitoAction Energy Walk & 5K. It’s been a whirlwind year since her son, Logan, was diagnosed with Related to the mitochondria. disease and she still hasn’t processed it all.
“Being around so many people with similar issues makes it so real,” said the North Providence, RI, mom.
“I wake up and I just do it. I just move forward, because I have to. When I stop and think about it, the tears will come. I want to meet other people, but I don’t want to cry.”
Stephanie will find support and friendship at MitoAction’s 10th annual Energy Walk & 5K, presented by America’s Compounding Center, on Sunday, Sept. 14, 2014 at DCR’s Mother’s Rest in South Boston, MA. Register today at www.mitoaction.org/energywalk.
Stephanie heard about MitoAction while Logan was at Mass General. She saw a flyer for Mito Support of New England and looked up MitoAction and found information about the walk. Because she was so swamped with Logan, Stephanie’s sister, Stacy, started the team Logan’s Heroes and has run with it.
Mitochondrial disease is an inherited chronic illness that can be present at birth or develop later in life. It causes debilitating physical, developmental, and mental disabilities with symptoms including poor growth; loss of muscle coordination; muscle weakness and pain; Episodes of abnormal electrical activity in the brain.; vision and/or hearing loss; GI issues; learning disabilities; and heart, liver, or kidney failure. About 1 in 2,000 people has Mito. It’s progressive and there is no cure.
Logan’s Mito journey started when he was about 8 months old. When Stephanie stopped breastfeeding and Logan was introduced to regular food, he acted like “a drunk baby,” his mom said. He started waking up from naps in a state of terror. He would just shake. Everything started going downhill at age 15 months. During bath time, his body would lose control and it would take two people to bathe him. He couldn’t even hold his head up. He lost muscular control and his neurological system was under attack. He also experienced body jerking, convulsions, projectile vomiting, and seizures. He actually shrunk in height and weight. Stephanie said he almost died several times.
Logan, now 2, was hospitalized for long periods of time. Doctors did every test they could think of. Stephanie even went through all the products in her home. By this time, Logan had a team of about 30 doctors, who finally determined that Logan had mitochondrial disease, specifically a vitamin deficiency (thyamine). When Stephanie asked the group what Mito meant, they all got quiet, she said. “I knew it was bad news coming.
“They said the outcome for kids with Mito is not very good. They don’t normally live past childhood.” Stephanie started shaking, it felt like the walls were closing in, and she ran out of the room. “Part of me died that day. I’ve never cried so hard in my life,” she said.
It wasn’t until about 5 months later, in March 2014, that Stephanie learned that Logan has pyruvate dehydrogenase deficiency of mitochondrial etiology, hemizygous variant of unknown significance in the X linked PDH1A gene. He also has Condition in which both eyes do not align simultaneously when looking at the same thing. in both eyes associated with low muscle tone as well as lactic acidosis and hypotonia.
Logan is on a ketogenic diet as well as various medications. He also sees a speech therapist, Someone who gives advice related to nutrition. Depending on the state, nutritionists may or may not be licensed healthcare providers and the level of training needed to be called a nutritionist varies..., occupational therapist, social worker, and more.
He’s actually walking now, even running. He doesn’t speak much yet but he’s very vocal. He loves kisses. He understands everything. He’s really smart and a great problem-solver. And he’ll hopefully be at the walk. But he also is frequently hospitalized at Hasbro Children’s Hospital for spontaneous illnesses that take him down hard and fast and take him longer to recover.
“MitoAction is the voice of the mitochondrial disease patient community, and we are inspired by the teams, families, sponsors, and individuals who come together each year to support this event,” said Cristy Balcells, MitoAction’s Executive Director. “For us, celebrating the 10th anniversary of the MitoAction Energy Walk & 5K signifies much more than excitement about an annual event. September 14th is a celebration of the heroes in our community, of our shared successes and frustrations, and of tremendous growth. We are proud to walk together and to raise awareness in Boston about mitochondrial disease.”
While Stephanie is anxious about the walk, she’s looking forward to the community coming together for awareness.
And according to team captain Stacy: “This event allows those who have been diagnosed and their family members to not feel alone, brings awareness to the public, and helps propel research. I’m proud and excited to join this group to support a cause that is unknown to most.”
The event is presented by America’s Compounding Center and sponsored by Stealth Peptides, Courtagen Life Sciences, Inc., ThriveRx, Acton Pharmacy, and Deep River Snacks.
Proceeds from the walk/5K benefit MitoAction, a Boston-based 501(c)(3) dedicated to improving the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, and clinical research initiatives. Learn more at www.MitoAction.org.