Searching for a diagnosis: Life with Rett Syndrome

LAPEER (WJRT) (10/11/2019) - It's a parent's greatest fear -- knowing something is wrong with their child, but not being able to find a diagnosis.

That fear became a reality for first-time mother, Mallorie Stump.

"You always talk about, 'Hey, I want to get married, I want to have kids, I want to do this, I want to do that,'" she said. "But you never talk about what if they're born with a disability or a disease. You just don't talk about it."

For almost a decade, Mallorie and Nathan Stump had been planning their lives. After they got married, their dream of having a little girl became a reality.

Maylee was perfect when she was born. She was healthy and happy, but that changed a few months later.

"Certain things that she used to always do, it was hard to get her to do them," said Mallorie. "I would always tell myself it was OK, and then a few days later I would be like, OK this is not normal."

Shortly after her first birthday, Nathan and Mallorie decided it was time to see a neurologist.

"She was ringing her hands, she was hardly even using her hands," said Mallorie.

Her neurologist suggested testing for Rett Syndrome, which is rare genetic mutation affecting brain development in girls.

The symptoms don't appear until about 6 to 18 months old. That's when they begin to miss developmental milestones or lose abilities they had gained, like Maylee.

"Every time I hear my neurologist's voice, I know it's something that I'm probably not going to want to hear," said Mallorie.

Maylee tested positive for the incurable syndrome.

"When Mallorie called me from work and she said, 'It's OK. It's not the end of the world.' Well, as soon as I got off the phone with her I was on my phone and was like, this is the end of the world," said Nathan.

Good or not, it was their life and they were determined to make the best out of it.

"Nate and I say everyday, OK when she wakes up and she's happy and she's smiling and she's walking and she's breathing, then OK, on to the next day," said Mallorie.

Because they weren't just in this fight for Maylee, Mallorie was also 23 weeks pregnant with another little girl.

"Immediately, I was like, 'Oh my gosh, is this going to happen again,'" said Mallorie.

Luckily, the chances of a sibling also being born with Rett Syndrome is even more rare and Mollie tested negative.

"She's exactly what our family needed -- what Maylee needed," said Mallorie. "She'll look over and Mollie, she'll go and do her thing, then come back and you'll hear her whisper 'baby.' So, it's amazing to see that sister bond and that's what we wanted."

While the worries for the future are always with Mallorie and Nathan, they refuse to let it change their days with Maylee.

"I don't want to live worrying about what's she's going to be like at 8, worrying about what she's going to be like in high school or anything like that," said Mallorie. "I want to focus on where she is now, so then we can enjoy her."

As for her and Nathan, her dreams of a big family in a farm house are still there too.

"I try not want to let what happened with Maylee scare us from having more, and I think the more the merrier," said Mallorie.

While Maylee is doing well and continuing to make progress, they still have a big fight ahead of them.

Mallorie and Nathan continue to work towards a cure through fundraisers and supporting others with Rett Syndrome.

Click here to learn more about Rett Syndrome and how to help find a cure.