ORANGE BEACH — A local family is determined to raise awareness about a rare disorder that has affected their family.

After finding out that her 1-year-old daughter, Shreve, had CTNNB1 syndrome, Crawford McWilliams knew she wanted to bring awareness to this rare disorder.

CTNNB1 was first discovered in 2012, and there are only 430 known cases around the world. It refers to either a deletion, partial deletion or mutation of the CTNNB1 gene that is responsible for the creation of a protein called beta-catenin.

Beta-catenin is a dual function protein that is involved in regulation and coordination of cell-cell adhesion and gene transcription.

Common signs and symptoms of CTNNB1 include degrees of intellectual disability, delays in reaching developmental milestones, speech delays, abnormal muscle tone, vision impairments, distinct facial features and behavioral problems.

"Shreve was born with brain calcifications and a condition called microcephaly, which basically just means that her head is small, but basically, small head equals small brain so it's something we have been closely keeping an eye on for her first year of life," McWilliams said.

After conducting research and finding a consumer genetics testing lab in California, the McWilliams family was eager to learn what exactly their daughter was experiencing.

"We got our results in early August," McWilliams said. "They were very overwhelming and obviously it was a lot to take in, but it picked up the CTNNB1. Of course we had no idea what that was that when you started clicking on all the links on this website and going through all the reports that they generated about our DNA, we started seeing scary words like developmental delay, retardation, all these things."

Shreve's diagnosis is called de novo, meaning that it was not hereditary.

When discovering her daughter had this rare disorder, McWilliams explained that it was a very emotional time, but she joined a Facebook group that allowed her to connect with other parents around the world who are experiencing the same thing.

"I did a little welcome post and introduced ourselves," McWilliams said. "They said, 'Don't freak out. I know it's overwhelming right now, but it's going to be OK.' It's been a process. It was a little bit of grieving of what we thought life would be like, but now we realize it's just all part of God's plan, and she is just as special as she was the day before we got her diagnosis."

While this disorder is rare, McWilliams believes that shedding light on CTNNB1 is important to move forward with learning more about it.

"One of the kind of taglines that I've seen in the community just in the last month that I've really been involved in is their little hashtag is 'care about rare,'" she said. "Just because it is rare does not mean it doesn't hugely impact a certain family. It may not be something common like Down syndrome or leukemia or something like that, but it's just as huge in our world. I want to spread awareness to help fundraise so that we can come up with a cure, so that the 430 people so far that are diagnosed, and there's probably hundreds, if not thousands more that haven't been diagnosed yet, that we can start kind of helping those people and getting the ball rolling and all of that."