Awareness brings family's struggle to light on National Rare Disease Day

02/28/2022

By DJ Manou, WSBT

Only about 20-thousand Americans know what it's like to grow up with it.

On National Rare Disease Day, WSBT shares the story of how one South Bend family has battled with hemophilia.

At just three days old, the Kil family knew something was wrong when their son Alexander wouldn't stop bleeding. Luckily, they found the cause quickly and were able to get treatment.

Raising a young boy is a challenge in itself.

“As a little kid he would run with his tongue out and bite his tongue a lot. We had a lot of tongue bleeds, a lot of nosebleeds,” said Diane Kil, Alexander’s mom.

But Diane knew that each time he bled could be incredibly dangerous.

Dr. Kyle Davis says Alexander can't form blood clots.

“Even a single bleed into the joint, that can set up a cascade where you continue to have worsening bleeding again in the future,” said Dr. Kyle Davis, Indiana Hemophilia and Thrombosis Center.

That means the slightest bump or just brushing his teeth could send him to the hospital.

“They kind of were my lifeline because you're right boys are active and I did not want him to be defined by his disease,” said Kil.

But when dealing with a rare disease, even some doctors don't always have the answers.

“I took him to the ER once because he did one of those head over heels down the stairs. I actually had to make some medicine for him,” said Kil.

As a former critical care nurse, Diane and the team at Indiana's Hemophilia and Thrombosis Center in Indianapolis were able to get Alexander adjusted to infusing himself by the age of seven. Which was needed as he got older and began playing sports.

"At high school he probably had to do it three times a week just to prevent any injuries," said Kil.

A catch 22, where the activities that could potentially kill him, can also help him.

“When you have good muscle tone you don't injure as well. I had him swimming from the age of three,” said Kil.

Now Alexander is 26 years old and recently graduated from the University of Michigan. Since he was diagnosed a lot has changed medically and most patients start treatment before they turn one.

“The goal of a young person who is diagnosed with hemophilia in 2022 would be that they actually experience zero bleeds,” said Davis.

But bringing awareness is crucial because they learned you never know who may have it.

“I was a carrier and didn't know it. So, this was very interesting my sister is 14 years older than me and she has a son who is diagnosed at 10 with hemophilia,” said Kil.

Rare Disease Day is designed to help not only recognize illnesses earlier and develop more treatments, but also help connect families who are going through the same thing.

Making a hardship like this a bit easier by not feeling alone.

Source: WSBT