Finding Answers for Katie

Laurel’s daughter, Katie, had battled a compromised immune system and irregular blood levels for nearly 18 years, but it was the spring of 2017 when Laurel, mother of eight, first noticed something was seriously amiss with her daughter Katie. She had her tested for thyroid antibodies since autoimmune thyroiditis runs in the family. After seeing her high thyroid levels, Katie went on a dairy and gluten-free diet, and the family went about their day-to-day lives.

But later that year, during a camping trip on Labor Day weekend, what Laurel expected to be a relaxing, fun family trip took a turn when she noticed Katie was struggling to walk the short trip to the campground. She was pale and had no energy. That’s when it hit Laurel that there was more going on, and it was something they needed to figure out fast.

They cut their camping trip short and took Katie into their doctor the next day. There, they learned she was incredibly anemic, and her white blood cell count was dangerously low. Doctors wanted to do a blood transfusion to bring up her white blood cell count, but they quickly learned that Katie was at too much risk of going into anaphylactic shock given the high levels of antibodies in her system.

Over the next few months, Laurel took Katie to doctors across Wichita, where she was prodded and poked many times over by many different specialties, until a rheumatologist finally recommended they find a hospital where specialists could work together to help Laurel find answers for her daughter.

Laurel recalled a friend telling her, many times over the years, how wonderful Children’s Mercy had been for their family. So after a year of searching for answers, Laurel and Katie made the drive to Kansas City, where they met with HemOnc specialist, Dr. Hetherington and began their journey with Children’s Mercy.

After their initial appointment, Dr. Hetherington was able to connect them to other specialists in Children’s Mercy. Katie saw specialists from internal medicine, hematology/oncology, pulmonology and immunology, which turned out to be a huge part of Katie’s healthcare picture. Doctors across the specialties worked closely together to provide comprehensive care for Katie while also working diligently to find a diagnosis.

Finally, after multiple trials and tests, Katie’s team of doctors referred her to the genetics clinic. While clinical testing came back negative for any diagnosis, Katie’s sample was entered into the genetics registry, as were samples provided by her parents.

Laurel and Katie had made the journey to Children’s Mercy multiple times now in search of an answer for Katie. And little did they know, they were finally going to have one.

One day, during a typical day at home, the phone rang. Laurel answered, and on the other end was their genetic counselor, Caitlin.

After 18 years of struggling with Katie’s immune system and blood levels, and years of working with doctors across the region to search for answers, they had finally found a diagnosis and an explanation for Katie’s myriad of symptoms. Through a new flagship program of the Children's Mercy Reseach Institute, Genomic Answers for Kids, doctors at Children’s Mercy were able to pinpoint Katie’s rare disease: Roifman syndrome. A disease that impacts so few people that any information on it is hard to come by – it is estimated Katie is one in 50 people in the world affected by Roifman syndrome.

Having a diagnosis – finally – was a relief, but also brought up more questions for Laurel. After Katie’s diagnosis, she had a hunch that Katie may not be the only one in their family with Roifman syndrome, so she worked with Children’s Mercy to run genomic tests on two of her other children as well. Her motherly instincts were correct, and through the Genomic Answers for Kids program, Laurel now has a diagnosis for three of her children.

“It is really heavy sometimes and can feel really overwhelming. But we’re thankful to have a team that has walked with us through it and been very steady and persistent in not giving up in trying to search for what’s going on beneath the layers,” said Laurel.

Learn more about Genomic Answers for Kids at Children's Mercy Kansas City. 

Read Celia's story.