Local family gets answers through IU Rare Disease Clinic

INDIANAPOLIS — A local family said they now have important answers about their daughter thanks to the work of the Indiana University Rare Disease Clinic.

Maddie Hardman is a fourth grader who has a big smile, is a little shy with new people and loves spending time at the library with her parents. Her young life hasn’t always been easy.

Sarah and Jeremy Hardman said Maddie had some developmental issues from the time she was a baby.

Maddie had feeding issues and was falling behind on her developmental milestones. She also had struggles with speech and walking on her own. She was eventually diagnosed with hypotonia, which means she has low muscle tone.

“She had all these tests come back normal after pokes and prods,” said Sarah Hardman. “We went through that for three years.”

At that point, they decided to give Maddie a break and do what they could to help her through physical therapy, occupational therapy and speech language therapy.

When Maddie was nine years old, they were referred to the IU Undiagnosed Rare Disease Clinic, which opened at Riley Children’s Hospital in 2020.

In a last ditch effort, they went through another round of tests. Last August, the Hardmans got an answer.

Maddie had variants on the DOCK3 gene inherited from both parents that resulted in a neurodevelopmental disorder.

According to a blog from the IU School of Medicine, when she had originally gone through testing, DOCK3 had not yet been “discovered”, meaning scientists didn’t know if defects in that gene could result in a specific syndrome.

“I bawled,” Sarah Hardman said when asked about her reaction to the news. “I had genetics come across my phone, and I knew it was about that year mark, and they were gonna be checking in with us. And she’s like, so I’ve got some news for you. I was like, all right. She’s like, I have an answer.”

“I was relieved to just know what was actually going on and hopefully work toward some sort of solution,” said Jeremy Hardman.

Like many of the diagnosed cases at the Rare Disease Clinic, this answer is only the first step and often times leads to more unanswerable questions.

“Immediately, he and I jumped on the phone, started looking it up,” said Sarah Hardman. “There’s nothing.”

Maddie is one of a few children in the world who have been diagnosed with this, but she is an important piece to the puzzle for future cases.

“People know that this is what’s going on with her,” said Jeremy Hardman. “Maybe the disease clinic can look into it and find even more answers to help more families.”

“I hope, it gives people hope that not to give up,” said Sarah Hardman. “Take that suggestion of, hey, we’ve got this out there.”

Now at 10-years-old, Maddie has overcome many of the obstacles she faced in her early years. Her parents describe her as funny, caring and animated.

They said she loves to cook, go on hikes, go fishing with her dad and she loves Taylor Swift’s music. Some of those are things they never thought she’d be able to enjoy.

“It’s those little things for her that means so much more for us,” said Sarah Hardman. “She didn’t walk until she was four. She used a walker. Her speech has been almost non-existent until the last couple of years, and even now, it’s very little. So those couple words, or we went hiking last year, and she was able to get up and over a tree branch was huge, and she was so proud of herself. And so those little things mean that much more for us.”

Click here if you want to learn more about the Undiagnosed Rare Disease Clinic.