Thursday, 27 February 2014 07:04

EthansCure Supports Rare Disease Day 2014

Written by Bonnie Hazen
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HOWLAND - It's not just a handprint on a poster. It's a mark of support for people who suffer from diseases most people never knew existed.

Students at North Road Intermediate School in Howland joined painted hands to help raise awareness of conditions such as Bartter Syndrome.

There's only a one-in-a-million chance that someone will be affected by Bartter Syndrome, a rare type of kidney disorder for which there is no cure. Their classmate, fourth-grader Ethan Hoffman, deals with it every day.

His parents, Lilia and Daniel Hoffman, said they went from specialist to specialist and didn't get a diagnosis until Ethan was 4 years old. Before the diagnosis, they nearly lost him twice.

"There is very little research, very little support," Lilia Hoffman said.

The Hoffmans are reaching out to other families whose relatives may suffer from Bartter Syndrome or other rare diseases. They only know of one other child with Bartter Syndrome in the Mahoning Valley. They formed the Bartter Syndrome Foundation to address, educate, coordinate and promote research of Bartter Syndrome.

"The rare ones, like ours, don't get enough support," Daniel Hoffman said.

"Perhaps it will help other people diagnose this illness. It may save a life," Lilia Hoffman said.

Bartter Syndrome is a group of similar kidney disorders which cause an imbalance of potassium, sodium and chloride, among others. It is an inherited condition that affects the kidneys' ability to reabsorb salt. Failure to reabsorb salt results in failure to reabsorb sodium and leads to excessive salt and water loss from the body.

Some symptoms of Bartter Syndrome include not growing or gaining weight, dehydration, constipation, increased urine production, muscle weakness, cramping and fatigue. In some cases, the syndrome can be apparent prior to birth if the mother has an increased volume of amniotic fluid (polyhyramnios).

Hoffman's teacher, Lori Yacovone, said she had never heard of the disease until she was told one of her students had it.

"I wanted to see what I could do to support him in the classroom. He knows what to do. He monitors everything himself. When he needs something, he gets it," she said.

Ethan Hoffman takes 30 pills a day and must always remain hydrated.

Yacovone said it is never disruptive to the class and the other students are aware of the fact that he needs to stay hydrated with his condition.

The Hoffmans said they are grateful for the support of the school staff for taking special care with their son.

They are also hoping that Sens. Capri Cafaro and Joe Schiavoni will succeed in getting the Senate to pass legislation to create a Bartter Syndrome Awareness Month and eventually Bartter Syndrome Awareness Day in Ohio.

"Please come to us," Lilia Hoffman said to other families in need of support.

Despite their son's condition, the Hoffmans say he leads a happy life and is an excellent golfer, having won best golfer of the year at a recent competition.

"You inspire us," she said of him and other children who suffer from rare diseases. "Here we are, we support you and good things will happen."

Read 155894 times Last modified on Monday, 29 December 2014 20:14

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