Navigating a Rare Diagnosis: Mitochondrial Disease

Our son Harold was diagnosed with ECHS1 deficiency in March of 2018. In the months leading up to his diagnosis, Harold had shown signs of delayed development with hypotonia, not rolling or sitting up, even with physical therapy. At 11 months old, he got very sick. It started with a viral cough, which led to an ear infection and a gastrointestinal bug that caused vomiting. Harold had a metabolic crash and became very acidotic, which is when he was hospitalized for the first time.

During his hospital stay at the Children’s Hospital of Wisconsin, Harold went through many tests—including MRIs of the brain and spine, muscle biopsy, spinal tap, MRS, a swallow study, labs, and x-rays. The MRI showed lesions on the basal ganglia and fluid on his spine. The spinal tap and muscle biopsy did not give a clear answer for diagnosis. His labs showed high lactic acid, which led doctors to suspect mitochondrial disease.

While at the hospital, doctors were only able to say that Harold had mitochondrial disease, and he had genetic testing done as a next step. We were sent home and waited to be contacted with the results for a possible diagnosis.

Harold’s genetic testing suggested he has ECHS1 deficiency, which causes a mitochondrial disorder due to the gene defect. Harold can’t break down protein, and it builds up as toxicities in his system causing damage to the brain, muscle, and other organs. Harold inherited the deficiency from both my husband and me, and unfortunately we were not aware that we were carriers.

Harold’s hospitalizations were very hard for all of us. From pediatricians to neurologists and geneticists, navigating the different specialists was overwhelming while trying to understand how we can best help our son, but there are resources and ways to get support.

Complex Care

Some hospitals may offer Complex Care. This service provides comprehensive, coordinated and centralized care for children with complex medical needs. Supporting teams can often include experienced pediatricians, nurses, social workers, and administrative assistants.

It’s a resource that helps parents of children that see multiple specialists navigate the health care system. They answer any questions, and if they can’t, they know who can best answer them. They are also knowledgeable about state and county services to help parents with financial or additional support. During my visit they particularly offered emotional support, as I was and still am processing my son’s diagnosis.

Parent-Driven Online Communities

After Harold’s diagnosis, I followed our geneticist’s recommendation and searched for online communities. Through Facebook, I was able to connect with families who helped me realize that although this is a rare condition, we were not alone.

Connecting with other families who are going through the same diagnosis helped us from feeling isolated. Being able to reach out to people who truly understand what you’re going through when you are scared or in need of answers is comforting. We are able to talk about what has helped our children manage their variety of symptoms, such as GERD and dystonia.

We also found Facebook to be a great platform to share frequent updates of Harold’s latest developments with friends and family. This has helped us spread awareness and understanding of the impact mitochondrial disorders and ECHS1 deficiency have on the lives of patients and families.

Research and Advocating

I always remind myself that I am my child’s biggest advocate. It’s important to keep pushing for a diagnosis and the best care. As caregivers, we are see our children every day and notice their developments, and know that we are critical to our children’s futures. For my husband and me, that’s what keeps us going forward.