In March and April 2010 we started seeing a doctor in the genetics department at Vanderbilt Children’s Hospital. They did a lot of blood work and the doctor diagnosed Hunt with “Lactic Acidosis.” The doctor prescribed giving Hunt Biotin three times a day and CoQ10 three times a day. At the time Hunt could only take four ounces of formula at a time without getting sick so we fed him every two hours.

The medicine helped some, but Hunt continued to get sick. We started seeing a nutritionist at Vanderbilt who recommended higher calorie formula to help him grow. He follows his own curve, but he is still in the 5th percentile for height and weight.

In July 2010 we called Tennessee Early Intervention Services (TEIS) to get Hunt evaluated. He qualified since he was essentially “behind” and not crawling or eating baby food. We started taking him to food therapy at Bill Wilkerson Center at Vanderbilt once a week and High Hopes Pediatric Therapy Clinic every other week for physical therapy. His food therapist has helped him to eat baby food and he is starting to eat small bites of other food. His physical therapist helped him to crawl and then walk with braces on his legs and a walker. At 19 months he started walking on his own. This was a huge milestone!

In October 2010 at Hunt’s one-year check up the pediatrician sent his records to other children’s hospitals to get a second opinion. We found a DNA, genetics, and mitochondrial disease specialist in Atlanta, GA. We got an appointment with her in December 2010 and drove to Atlanta for a visit. She recommended a series of tests including a brain MRI, chromosome microarray studies, and thyroid function tests which were all normal.

In February 2011 the specialist from Atlanta diagnosed Hunt with an energy disorder called “mitochondrial disease”. Mitochondrial disease or “mito” is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function. Mitochondrial disease is progressive in nature, but it is not an auto-immune disease. It is caused by a change in a gene that alters the energy pathways.

The good news is that Hunt’s brain MRI was normal and he does not have signs of other organ problems such a thyroid disease, and liver or renal problems. We will continue to do multi-system screens involving blood and urine tests every six months to check on his status. We currently have a wonderful genetics specialist at Vanderbilt Children’s Hospital so we can now do these tests in town without traveling back and forth to Atlanta.

Mitochondrial disease is associated with growth problems, low muscle tone, and developmental delays. Hunt is now in physical therapy, occupational therapy, feeding therapy, and speech therapy at High Hopes Pediatric Therapy Clinic every week. We also give him a “mito cocktail” four times a day which provides him with natural co-factors and supplements which help his body produce and use energy appropriately. These include CoQ10, Biotin, Vitamin B1, Carnitine, Alpha Lipoic Acid, etc.

Children with mitochondrial disease need to eat smaller amounts more often, fatigue faster, and get sick easier than other children. We will do all that we can to keep Hunt as healthy as possible and let him be our guide to setting realistic expectations for his capabilities. We want to protect him, but also want him to have a good quality of life so I am sure we will learn this balance in time.