For those of you that are new to “Team Elena”, we wanted to share a little more detail about her medical journey thus far. If you have had the opportunity to meet Elena you know that she radiates joy with constant smiles and giggles, despite her complex medical needs. Her normal day-to-day life often includes: doctor visits, labs, developmental therapies, supplements, medications, tube feedings and a regimented schedule to support her health, growth and well-being.

For the first three years of her life, we did not know what was causing Elena’s ongoing health challenges. At birth, she had a thirty-day stay in the NICU, but she continued to struggle at home with low energy, feeding difficulties, and lagging below the one-percentile in her growth charts. At six months old she started working with various therapists (speech, feeding, and occupational) and had some minor medical procedures to improve her growth and development. Despite that, she continued to struggle with chronic acid reflux, fatigue, and had some additional health scares that lead to ‘dead-end’ explanations of her symptoms.

Unexpectedly at fifteen months, she was hospitalized at Children’s National Medical Center for an intensive diagnostic work up, treatment and monitoring. During this two-week stay her clinical team performed detailed examinations, diagnostics, imaging, and lab work for almost every organ and body system. This was a critical tipping point, which confirmed the suspicion of an underlying metabolic condition, kidney disease, liver disease, and physiological imbalance. Five months later, due to the continued growth delays, she was scheduled for surgery for a feeding tube, which dramatically improved her health and continues to be a critical part of her care today. Despite extensive genetic testing, at this point her doctors were unable to confirm the suspected diagnosis.

Eventually she was referred to the Undiagnosed Disease Network at the National Institutes of Health to see if they could do further testing to determine her condition. Several months after an extensive clinic visit we finally learned that Elena was born with a rare genetic version of Mitochondrial Disease: Complex 1 Deficiency.  She is the only documented person with this version of the condition. This diagnosis largely explained the wide assortment of symptoms, conditions and health challenges she faced. With this critical information we continue to work with her doctors to target new medications, supplements, interventions, and monitor critical areas of her health.

As Elena’s Mitochondrial Disease progresses, her kidney function is likely to continue to decrease and we expect in the near future that she will need dialysis, a kidney transplant and potentially a liver transplant. We still do not know everything that may happen to her health in the coming years; when the geneticists told us about her rare condition, they said that Elena will write her own story in regards to her health. We are amazed at the strength, kindness, determination and resolve of our beautiful little girl. Thank you for supporting COTA in honor of Team Elena and joining Elena as she writes the story of her life.