Emma was diagnosed with an extremely rare kidney disease in 2018. With care from one of the best nephrology teams in the country, she’s back to being a kid and has big plans for when she grows up.

Child Health, News | 5 months ago

Emma Faces Rare Kidney Disease With Hope and Courage

Emma was diagnosed with an extremely rare kidney disease in 2018. With care from one of the best nephrology teams in the country, she’s back to being a kid and has big plans for when she grows up.

When 9-year-old Emma Porter isn’t sitting on the tractor, she’s bailing hay and tending to the cows, pigs and chickens. 

Helping on her family’s farm requires energy and grit – two things Emma has plenty of. She’s come a long way since the summer of 2018, when she started having daily stomachaches, with occasional vomiting and lethargy. The symptoms would come and go, making it difficult to pinpoint the cause, but when her face and eyes developed a yellow tint, Emma was sent to Atrium Health Levine Children’s Hospital.

Very quickly, she was diagnosed with atypical hemolytic uremic syndrome (aHUS). “This is a rare kidney disorder with an incidence of only 1 per 2 million people,” explains Donald “Jack” Weaver, MD, Emma’s pediatric nephrologist at Atrium Health Levine Children’s.

Nothing shakes your world like hearing your child has an extremely rare, life-threatening disease, but Colleen felt confident they were in the right place. “From the moment we went in there, in spite of the fact that we had a very sick kid, we both felt like we were exactly the place we needed to be with the doctors we needed to be with,” says Colleen. 

Emma spent nearly 2 weeks at Levine Children’s Hospital – ranked among the best for pediatric nephrology in the United States. She underwent IV treatments, dialysis and multiple red blood infusions, until her kidney function and hemoglobin improved. Most of her time in the hospital was spent sleeping, but by the time she went home, she felt like herself again.

And for the first time in weeks, she had the energy to play.

Bright future ahead

Today, Emma’s kidneys are healthy. Although she’ll require medication for the rest of her life, major breakthroughs have already been made to treat aHUS. This is in large part due to Levine Children’s Hospital’s participation in clinical trials to get new drugs FDA-approved, including one that’s helped Emma go from infusions every 2 weeks to every 8 weeks.

Colleen is optimistic that Emma’s life will only keep getting easier as medications change and more drugs become available. In the meantime, she’s grateful that Emma gets the highest level of kidney care, in a kid-friendly environment. “Something like a 5-hour infusion shouldn’t be fun, but they make it so it is. Levine Children’s Hospital has created an environment people enjoy being in, despite that they’re there for treatment,” she says. 

When Emma was first diagnosed, Colleen was nervous. “I spent a lot of time worrying about what her future would look like,” she says. But now? “We have zero concerns, zero issues. She does anything she wants to.”

Right now, Emma wants to be a kid (and help on the family farm, of course). But she’s got big plans for when she grows up: She hopes to be a surgeon – to help children just like her.