ORANGE BEACH — If you know Crawford McWilliams, you know just how stylish she is and therefore how many hats she wears. Wife. Artist. Advocate. Foodie. Interior decorator. Businesswoman. …
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ORANGE BEACH — If you know Crawford McWilliams, you know just how stylish she is and therefore how many hats she wears. Wife. Artist. Advocate. Foodie. Interior decorator. Businesswoman. Friend.
But her most cherished role? Mother.
Crawford is the mother of Shreve, a vibrant girl who adores the YouTube sensation "Ms. Rachel," has a soft spot for puppy dogs and is navigating life with CTNNB1 Syndrome, an ultra-rare genetic disorder requiring a parenting journey unlike most.
Like all parents, Crawford and her husband, Brenton, who she says is her rock, dream of a brighter future for their only child — one where struggles are eased and possibilities abound. If there's a chance to lessen the effects of CTNNB1 Syndrome — or one day find a cure — they'll stop at nothing to make it happen.
A year ago, Gulf Coast Media sat down with Crawford shortly after her family received Shreve's official diagnosis. We caught up with her again to hear how Shreve is progressing, what advances have been made in the fight against this rare condition and how Crawford's advocacy is inspiring change.
This is their story.
So first, what exactly is CTNNB1?
In 2012, researchers identified a rare genetic disorder that has since been diagnosed in fewer than 500 people globally.
CTNNB1 Syndrome is classified as a severe neurodevelopmental disorder. Its root cause is often, but not always, "de novo" in genetics — a term used to describe spontaneous genetic mutations that are not inherited from parents, which was the case with Shreve. At the heart of the disorder is a mutation in the CTNNB1 gene, which impairs the production of beta-catenin, a protein critical to many of the body's functions, particularly in the brain.
"So, that is a protein that all of us have... For Shreve, it's creating, from what I understand, I think around like a half of what it needs, maybe a little less," Crawford said. "So, that protein is apparently in everything. Your brain, it affects everything."
Symptoms are diverse and widespread. In addition to cognitive and speech delays, children with the disorder often face challenges with gross motor skills, vision impairments, tethered spinal cords, autism and even heart conditions.
"They estimate, I think, that there's like 250,000 people in the world that have (CTNNB1), but they're undiagnosed, because apparently CTNNB1 is one of the No. 1 genetic causes of cerebral palsy. So, they think there's tons of people walking around with cerebral palsy that don't know they actually have CTNNB1," Crawford said. "So, that's part of our accuracy of trying to spread the word, because it'll help to get our numbers up as far as making (a cure), but then we also want to help people and let them know that you can have some more specific treatment, I guess is what I'm saying. It would let them know that they needed to look into certain things they probably didn't have on their radar yet, that they might need to check, like heart health and stuff like that."
The rarity of CTNNB1 Syndrome compounds its challenges. Since its discovery is so recent, health care providers are still learning about its effects. Advocacy groups are working to provide families with resources and to raise awareness of the disorder's prevalence.
On Dec. 7, 2022, after a normal pregnancy, Shreve McWilliams entered the world five weeks early due to intrauterine growth restriction (IUGR), a condition where a fetus doesn't grow at the expected rate. Along with this, she was born with microcephaly, brain calcifications and a higher white blood cell count.
Her parents' lives were immediately filled with unanswered questions. Hospital doctors were concerned she might have cytomegalovirus (CMV) or toxoplasmosis, serious conditions that required immediate testing. After a spinal tap and 16 days in the NICU, those concerns were ruled out, and the family was finally able to go home.
But even as Shreve's first months appeared typical, her parents couldn't shake the feeling that something was amiss. Crawford and Brenton noticed she wasn't hitting certain developmental milestones, such as rolling over or crossing the midline.
Months later, when Shreve's neurologist suggested a "wait-and-see" approach to observe potential developmental delays, her parents decided they couldn't afford to wait.
"That's not how I like to do things," Crawford said.
They ordered a genetic testing kit from a direct-to-consumer lab in California. After three months of waiting, the results pointed to CTNNB1 Syndrome. However, without a definitive diagnosis from a medical provider, the family embarked on a new phase of their journey: confirming their findings through official medical channels.
Living in what they described as a "health care desert," unable to find genetics testing from Mobile to Pensacola, they were initially directed to Jacksonville, Florida, but ultimately transferred to the University of Alabama at Birmingham's (UAB) Children's of Alabama, which is closer to home. While they loved UAB, transferring meant they had to start the process over.
"To most doctors, this 'isn't even medical grade,'" Crawford said. "So, they didn't believe it was true. We got kind of gaslit by a few doctors in Mobile about that."
UAB gave confirmation through whole exome sequencing in November 2023. The diagnosis solidified their path forward.
"UAB's been phenomenal. So, we need to keep basically everything for Shreve there. We've got eyes, and now ENT will be at Philadelphia, at CHOP (Children's Hospital of Philadelphia)," Crawford said. "...We have a great medical team, great therapy team. So, we're just doing the best with what we can have."
The past year has been transformative. Shreve's schedule revolves around intensive therapies: occupational therapy twice a week, physical therapy twice a week and speech therapy three times weekly. She has also participated in three Dynamic Movement Intervention intensives.
"Sometimes, we both get burnt out with the grueling schedule," Crawford said as she smiled at her daughter who was eating Goldfish, "but she has made tremendous progress with her gross motor skills, and that is all thanks to her therapy regimen."
Crawford's commitment to raising awareness about rare disorders has extended beyond personal challenges, as she has become an active voice in Alabama's broader disability rights advocacy landscape.
"I help with the U.S.-based 501(c)(3) CTNNB1 Connect and Cure. I've been helping them with social media for probably about six months, just coming up with content, working on fundraising campaigns, stuff like that," Crawford said. "I'm actually in the running for being the director of fundraising for the board for that foundation, which is a little scary, but you do things you would never know you could do for your child."
This past summer, the family traveled to Ljubljana, Slovenia, for the second international CTNNB1 Conference, an event that brought together 83 children from 19 countries. Shreve participated in the "Dragonfly Study," a natural history study designed to evaluate potential gene therapy clinical trials. As one of just nine U.S. families at the conference, the experience offered connection and hope.
"We're just a bunch of parents. Probably 98% of us don't have any kind of medical or science background, so we're just like, our minds are melting, everybody's face is glazed over, but they had lots of fun, silly entertainment to kind of let us shake it off at the end of the day," Crawford said. "But it was so good to be able to meet the parents that we've become friends with on social media and Instagram and Facebook and all that, so it was a really good experience, gave us a lot of hope, so we're really confident that they'll be a cure, I would hope, in the next five years, which is very, very exciting for our girly girl."
Crawford recently graduated from the Partners in Policymaking of Alabama (PIPA) program, a six-month disability advocacy training initiative designed to equip participants with the skills to drive change through leadership, policy engagement and collaboration with decision-makers.
She also serves on the Protection and Advocacy for Individuals with Developmental Disabilities (PADD) Advisory Council under the Alabama Disabilities Advocacy Program (ADAP). The council, comprised mostly of people with developmental disabilities or family, plays a crucial role in advancing the civil rights of Alabamians with developmental disabilities. It offers feedback on ADAP's PADD program priorities and meets three times annually across the state.
"It's a great resource for anybody. They have lots of good information on their website for navigating the Medicaid waivers and things like that, so basically, if you have a question, they can probably answer it. Same thing for the developmental disability council and all of the great things that the state has, and, surprisingly, we're pretty well off in Alabama," she said. "This is all about creating a better future not just for Shreve but for all individuals with developmental disabilities in Alabama."
In Baldwin County, Crawford's efforts have led to the creation of a playgroup for children with special needs hosted at Magnolia United Methodist Church.
What began as a small idea shared among a few mothers has grown into a crucial support network for parents of children with special needs in southern Alabama. The Coastal Alabama Mothers of Special Needs Children Facebook group started with just three members a year ago and now boasts about 275.
"We are pretty strict with who can join since we talk about very personal things and our children in the group, so we vet everyone that joins to make sure they have a special needs child. The mothers seem to be the default parent in the special needs world for who more than likely stops working and juggles the therapy and doctors' appointments, and it's a lot. Having a local group of moms that you can rely on for emotional support and help navigating this world that's so new to most of us is such a luxury," Crawford said.
Beyond camaraderie, the group has become a source of practical guidance. This includes helping families access resources like Medicaid's Elderly and Disabled Waiver, a program with notoriously difficult application processes.
"I get messages on social media weekly from mothers with questions or concerns. It is time consuming answering all of the questions, but the whole point of us being so open with our journey is to help others," Crawford said. "If I can save a mother time trying to navigate this crazy world of special needs care and ease her burden, then it is all worth it. I had a handful of mothers of children with cerebral palsy take me under their wing after we were diagnosed, and they helped me so much."
Beyond the social media group, she is a founding member of SHOW Baldwin Inc. – Special Humans Outreach & Wellness, and while she is not as involved with the nonprofit currenlty, she previously served as a board advisor.
Fundraising has become both a mission and a necessity for families like the McWilliamses.
From children's clothing trunk shows to family photography sessions, the family has tapped into community support. Other efforts included an interior design studio donating a portion of sales, a Botox and filler event and a cocktail party. One especially touching fundraiser came when a friend ran the New York Marathon in honor of Shreve.
In total, Crawford and Brenton have raised more than $50,000 for CTNNB1 Connect and Cure in 2024 alone.
"We couldn't have done it without the help of our friends, family and community," Crawford said. "We're so thankful for all of the support, but we have to keep going."
With the syndrome being so rare and therefore not being a priority for companies to funnel research funding to organically, much of the financial burden falls on parents of those diagnosed. The money raised is critical as teams approach groundbreaking milestones, including gene therapy and small molecule clinical trials.
Hearing a life-changing diagnosis for your child is an experience no parent can fully prepare for.
"The moment you hear a diagnosis for your child, you shut down. You're having an out-of-body experience, and nothing seems real," Crawford said. "Once you catch your breath from the initial grief, you will quickly realize there are so many beautiful and wonderful things to celebrate in your new normal."
One resource she recommended is Emily Perl Kingsley's poem "Welcome to Holland," a reflection on the unexpected journey of parenting a child with special needs.
She also urged parents to build a support system, whether through local groups, online communities or friends who can relate to their experience.
"The road as special needs parents isn't easy to navigate, and it can be very lonely," she said. "But finding your tribe makes all the difference."
Self-care, she added, is just as important as advocacy and caregiving. She said to "take a day for yourself."
"Make yourself a priority sometimes, so you can be the best for your child," she said.
Above all, she reminded parents to celebrate the small victories and cherish the simple moments.
"You still have a baby you want to spend time with and do typical mom things with," Crawford said. "It's easy to get wrapped up in being a caregiver, pushing therapy and memorizing doctors appointments. But don't forget to just be a parent. Take a day each week to do something fun with your child that isn't health-related. Enjoy motherhood."
Source: CTNNB1 Foundation
