For the first four years of his life, Ethan Hoffman showed all the signs of a sick child, but tests continually came back negative.
While most parents would be relieved by a doctor giving their children a clean bill of health, Howland residents Lilia and Daniel Hoffman knew something serious was plaguing Ethan.
"We were lost and isolated from other people," Lilia said. "When you as a parent know something is wrong but everyone else tells you it's OK, it is a helpless feeling."
Tribune Chronicle photos / Ashley Newman
Lilia and Daniel Hoffman read a book with their 10-year-old son, Ethan, at the family’s Howland home on Thursday. Ethan has a rare genetic kidney disorder known as Bartter syndrome.
Born prematurely, Ethan's symptoms included stunted growth, loss of appetite, sleeplessness, insatiable thirst and frequent vomiting. At 4 years old, Ethan's symptoms worsened, sending Lilia to the edge of hysteria.
That's when the family was finally given an answer. Ethan was diagnosed with an extremely rare genetic disorder, known as Bartter syndrome.
"When the doctor told me and explained to me what it was, I was in shock," Lilia said. "I was happy they diagnosed him, but I didn't really understand it."
Lilia was not alone. Bartter syndrome is so rare, a widespread understanding of the disorder's signs and symptoms have only become known in the last several years. Only about 300 people in the nation have been diagnosed with Bartter syndrome.
"Still, it was great to finally get an answer," Ethan's father, Daniel, said.
According to the U.S. National Library of Medicine, Bartter syndrome is caused by a defect in the kidney's ability to absorb sodium. As a result of this defect, the bodies level of potassium, sodium and calcium are constantly in flux.
There is no known cure for Bartter syndrome, but treatments can help get the symptoms under control.
Daniel and Lilia have devoted the past six years to working out a treatment regimen to best control Ethan's symptoms.
"He sees like eight different specialists," Lilia said. "They all work to keep him as close to normal as possible."
For his treatments, Ethan, 10, takes nearly 30 pills a day, ranging from zinc and calcium supplements to dangerous medicine such as potassium chloride.
"That's the same thing they use in lethal injections to put people to death," Lilia said. "Low potassium or high potassium can cause cardiac arrest."
In an effort to not feel so alone in their fight, Lilia and Daniel created a foundation devoted to the disorder, called Ethan's Cure. The foundation's website - www.ethanscure.org - has information about the disorder as well as a forum.
"We are all very close," Lilia said of the online community. "If someone is sick, we'll pray for each other. We also give tips and advice with the different medicines and symptoms. It helps having people you can talk to."
Daniel, who has a bachelor's and master's degree in molecular biology, works at General Motors Corp. Lordstown Complex. But, he said, if someone knowledgeable would be willing to help with the foundation, he'd love to get his Ph.D. and pursue a cure for Ethan.
"We've had a couple of fundraisers, but we have no experience with any of this," Daniel said. "It has just gotten to the point where it would be nice to have an interim or someone with experience step in and say, 'OK, this is how you do it.'''
Despite his early setbacks, Ethan has accomplished plenty in his young life. A good student, he was also named Trumbull County Under 10 Golfer of the Year in 2013. His father said he has always had a golf club in his hand.
"We can't wait for the weather to break so we can get back out there," Daniel said.