Caregiver support

Cristy knew something was wrong before Eva was even born. Already a mother of two, Cristy noticed that her third child was unusually still in her womb.

Born at full term, Eva was nevertheless tiny and frail. More problems accumulated from there: failure to gain weight, weakness, missed developmental milestones and debilitating fatigue.

Although Cristy and her husband are both medical professionals, pediatricians rarely took their concerns seriously. They didn’t receive a diagnosis until Eva was two years old, after months of being told, “She’s just a sleepy baby…she’ll grow out of it.” And like many families dealing with mitochondrial disease, they faced a series of misdiagnoses, including kidney disease and cerebral palsy.

“If it’s not something you can obviously see or hear,” Cristy explains, “you can’t pinpoint a diagnosis.”

When a specialist finally made the correct diagnosis (Leigh’s disease), Cristy was initially relieved – until she started reading about the dire prognosis for mitochondrial disease patients and the lack of effective treatments. She describes that time as “a period of terrible grief, one that some families never emerge from.”

Fortunately, Eva has survived into her teens and is now a happy and expressive 14-year-old. She is significantly impaired, though, and requires round-the-clock assistance to complete even the most basic tasks. Eva’s care is a team effort that involves her whole family and a small village of healthcare professionals and specialists.

Drawing from her experience, Cristy offers this advice to other mitochondrial disease caregivers:

•  Learn to be strong and resilient. Some healthcare professionals may be dismissive of your concerns, and others may pretend they have all the answers. But you know your loved one better than anyone else does. Use your power to advocate for their best interests.
•  Be selective. This is essential for determining which activities and situations are truly worth a patient’s energy. But it’s also important to be selective about whom you confide in and whose advice you value.
•  Carefully consider treatment goals. Some families aggressively seek out potentially life-extending treatments, while others chose to focus on supportive care to maximize quality of life. This is a deeply personal decision, and there’s no one “right” answer.
•  Make a conscious decision to stay positive. Be willing to live in the moment. Accept the reality of the disease but also embrace gratitude for what your loved one CAN do.

Cristy hopes that by speaking out about her experiences, she can make a difference. As for Eva’s future, Cristy’s hopes are what any mother would wish for her child: a chance to live a long life and do anything she wants to do.