A Family’s Long Journey with Mitochondrial Disease

Kelsey is a unique child. Her story still doesn’t have an end or an answer. Only suggestions. Maybe mitochondrial disease. Brain atrophy. The two could even be connected. Kelsey’s parents want to share her story so they can find out if anyone else shares their experiences, and maybe they can find someone to finally discover the diagnosis. Keep reading to learn more, or follow the original story for additional details.

Kelsey’s parents don’t remember anything unusual about Kelsey’s earliest years. She was a happy baby. She smiled a lot, and interacted gleefully with other kids. It wasn’t until Kelsey enter her fourth year that differences began to appear. At first Kelsey experienced difficulties learning.

Kelsey began to fall behind in many early childhood landmarks. Walking, potty training, preschool performance. All of these became struggles for Kelsey and her parents. The gap between her and other children widened.

Kelsey’s preschool teacher reported Kelsey struggled to retain information. She suggested Kelsey be tested for a learning disability. After testing, doctors described Kelsey as having borderline intellectual functioning. They declared her to have an intellectual disability.

A psychologist reevaluated Kelsey when she was six. The psychologist asked if Kelsey ever experienced seizures. Her parents replied that she never had. The shadow of this idea, however, lingered in their minds.

In 2012, during the Super Bowl, Kelsey told her parents she had a pain in her stomach. She developed a fever. When her mother called for advice, the doctor advised Motrin. It seemed like a simple cold to the doctor. Later that night, as Kelsey slept with her mom, she suffered a grand mal seizure. Her body shook and convulsed for two solid minutes.

The seizure seemed to be brought on by a particularly high fever. Two weeks later, while in the back of her family’s car, Kelsey experienced another seizure. She began convulsing and vomiting. They rushed to the hospital.

At first, doctors reported Kelsey suffered from epilepsy. A few hours later the diagnosis changed: brain atrophy.

Overwhelmed by the diagnosis, Kelsey’s family asked the doctor for advice, recommendations, anything that would help. “What would you do if it was your daughter?” Kelsey’s mom asked the doctor. “I would pray,” the doctor replied.

The family began a quest for second opinions and more accurate diagnoses. Another doctor reported Kelsey’s condition as epileptic. No one seemed able to pin it down. No one could say with certainty that her brain was shrinking. Kelsey’s family decided to focus on controlling the seizures in the meanwhile.

For six months, Kelsey became seizure free and learned at an acceptable rate. Half a year later the seizures returned. However, in 2013 hope seemed on the horizon for Kelsey again. UCLA developed a test to see if seizures could be surgically stopped. After eight days of study and testing, however, doctors declared Kelsey could not benefit form the surgery. Her seizures originated from several different parts of the brain.

A visit to the Mayo Clinic then consisted of MRIS, CT scans, a spinal tap, EEG tests, and more. The results revealed a high likelihood that Kelsey had mitochondrial disease. The test confirmed Kesley’s brain atrophy. Furthermore, the results suggested the two may be linked.

Today Kelsey remains undiagnosed. She is 13 years old. Unable to walk, or talk, Kelsey relies on a custom fitted wheelchair. Her mother became her full-time caregiver, and Kelsey withdrew from school. Her seizures still continue. The family hasn’t, however, given up hope. Even now they wait on the results of a new UCLA study involving stem cells to see if it can help their daughter.

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