Mitochondrial disorders affect children and adults alike

Marilyn Monroe

Julie Manley knew something was wrong with her youngest child when he could not nurse. His body did not have the energy to expend on muscle movement. Jude was diagnosed with mitochondrial myopathy.

Mitochondria, the tiny parts of almost every cell in your body, make the energy that cells need to grow. If mitochondria are damaged or malfunctioning, the cells cannot carry out their functions.

Some of the problems associated with the disease are developmental delays, mental retardation, seizures, dementia; weakness and/or pain in the nervous system; weakness, low tone, cramping and pain in the muscles; heart disease; twitching in the eyes and vision loss; kidney disease; and respiratory problems.

More than 4,000 children born in the U.S. each year will develop mitochondrial disease by age 10, according to the United Mitochondrial Disease Foundation.

The disorder can lie dormant in the body, and not everyone with the disease will show symptoms.

“One day these people can be doing really well and then they get sick or stress in their life or get in a car accident or have surgery. They just go straight downhill. They may never get back to baseline,” said Manley, who is a former resident of Sulphur, La.

“They don’t have cellular energy.”

Manley’s son Jude is fitted with a feeding tube but only gets those feedings if needed. He is able to eat by mouth, but Manley pointed out that there are still a lot of limitations for him, and things he will never do.

But with the right combination of medicine and a diet and exercise program, Jude is thriving.

“He can walk, he can talk, he can swim ... there is hope,” Manley said.

Symptoms of the disorder usually appear in the toddler and preschool years; however, adults also can be affected.

“Adults are affected alike. They just don’t really realize it. They are diagnosed with maybe diabetes and hearing loss. Well, diabetes and hearing loss are the most common presentations in one of the mitochondrial diseases,” Manley said.

Mitochondrial disorders have no cure and are generally thought to be hereditary. However, in Jude’s case, Manley said doctors are looking into environmental causes such as hormones in foods or pesticides.

Research into unmasking the causes of mitochondrial disorder, as believed by many scientists, may also lead to possible cures for other diseases.

“Whenever we talk about mitochondrial research, we find that it is extremely beneficial to Alzheimer’s, Parkinson’s, heart disease, cancer, ALS, Huntington’s, because as these powerhouses go bad, those organs become affected, and the disease processes itself involve mitochondria,” Manley said.

She also pointed out that mitochondrial disorders are as common as cystic fibrosis but doesn’t get near the amount of funding or recognition.

“Mitochondrial disease is just not as well known,” she said.

Southwest Daily News