The Face of Bartter Syndrome: Ethan’s Cure

Imagine knowing something is wrong with your baby, but medical professionals cannot provide a diagnosis. Frustrated and scared, you spend every waking moment agonizing about your child’s health and quality of life; you feel helpless and alone. Nobody seems to understand, and some people even insist your child is fine and you are overreacting. Deep down, you know there is something wrong. That is what the Hoffmans experienced after the birth of their son, Ethan.

Lilia and Daniel Hoffman were elated about the upcoming birth of their baby boy. Their excitement quickly turned to concern when Lilia began to experience serious complications due to excess amniotic fluid around the fetus, placing her pregnancy at high-risk. At 36 weeks, Lilia was induced and gave birth to Ethan, who weighed 6.3 lbs and seemed like a healthy baby boy.

When he was just 6-weeks old, Ethan began to voluntarily limit his food intake, vomit or spit up whatever amount he ingested, and always looked tired. He was hospitalized several times for dehydration and was extremely lethargic, skeletal in appearance, constantly thirsty, and up every few hours at night.

At 4-years old, after being hospitalized for excessive vomiting and high fewer, Ethan was finally diagnosed with Bartter Syndrome by accident. This diagnosis came as a relief for the Hoffmans, but they still had a long road ahead of them. This disorder is genetic and incurable, prevalent in an estimated 1/1 million people (Emmett, 2013). The symptoms can easily be misdiagnosed as cyclic vomiting, acid reflux, gastrointestinal problems, and lactose intolerance. It is a group of rare conditions that affect the kidneys, and is present before birth caused by a defect in the kidneys’ ability to reabsorb sodium (NIH, 2011). Ethan takes nearly 30 pills per day, including dangerous medications such as potassium chloride – the same thing used for lethal injections and indomethacin ,that can cause stomach bleeding and ulcers. Low potassium or high potassium can cause cardiac arrest.

In an effort to break our isolation and promote awareness, we created a foundation called Ethan’s Cure. Their website, www.ethanscure.org provides information about the disorder and a forum for sharing experiences and advice. Today, 11-year old Ethan wants to bring awareness to this extremely rare condition. In May 2014, he boldly spoke to Senate officials at the Ohio State Building about Bartter Syndrome and according to Lilia, Ethan began his proposal with, “I am the face of Bartter Syndrome,” and confidently described the importance of awareness for those suffering with this condition. The State officials granted his request and officially made May the Bartter Syndrome Awareness Month in Ohio. The Hoffmans profoundly continue their mission to promote awareness and provide networking structures to eliminate the barriers of seclusion.