A mum has shared how her child was born with a genetic disorder so rare that she is one of only 400 people in the world to have it.
Crawford McWilliams, 38, and her husband Brenton, 39, were delighted to discover they were expecting and, until the delivery, experienced a “normal” pregnancy.
But their baby girl, Shreve, was born five weeks premature due to intrauterine growth restriction (IUGR), which is when a foetus doesn’t grow as expected.
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Now 19 months old, she can’t walk or talk, but “squeals with joy daily” and smiles at everyone.
Her parents, committed to giving Shreve the best life possible, have shared their incredible journey from NICU to now.
“It was such a whirlwind when she was born,” Crawford, an interior designer from Orange Beach, Alabama, US, told Need To Know.
“I got to hold her for a couple seconds and then they took her quickly to the NICU.
“I didn’t even realise the severity of things at the time and didn’t really understand until I saw her in her incubator when I finally got to go in to see her hours later.”
A foetus with IUGR is usually smaller than 90% of other foetuses at the same age, so Shreve spent 16 days in intensive care when she was born.
During this time, she was also diagnosed with microcephaly, a birth defect that causes a baby’s head to be smaller than normal, and brain calcifications, where calcium and mineral deposits are found in the brain tissue.
She said: “After several blood panels and a spinal tap they finally confirmed that she did not have CMV or toxoplasmosis, both have similar symptoms to hers, so we were finally able to go home.
“They couldn’t give us answers of what caused this.
“We left feeling relieved to go home but not knowing was tugging at us for sure.”
After finally taking her home, Crawford and Brenton noticed their daughter was missing some milestones.
After finally taking her home, Crawford and Brenton noticed their daughter was missing some milestones, like rolling over or crossing midline.
She said: “She basically could only lay on her back.
“So when Shreve was around four months old, Brenton and I started looking for an answer to the cause of her symptoms and delays.
“Shortly after that we did some consumer genetic testing with a private company and found out that she has a very rare condition called CTNNB1 syndrome.
“She’s one of 430 diagnosed individuals in the entire world.
“Her condition was a ‘de novo’ case, meaning that it was just a freak occurrence and not passed down hereditarily.”
CTNNB1 syndrome is an extremely rare genetic neurodevelopmental disorder caused by changes, pathogenic variants or mutations, in the CTNNB1 gene.
Neurodevelopmental disorders are ones that impair or alter the growth and development of the brain and the central nervous system.
There can be delays in speech, language, standing, walking, and even the chance of seizures.
Crawford said: “She doesn’t have much mobility, and can’t crawl or walk independently.
“We spend our days juggling our new normal: physical, occupational, and speech therapy appointments mixed in with doctor appointments, testing, and procedures.
“Shreve has to work five times as hard as other children to achieve milestones months after her peers but she doesn’t let that get her down though as she is seriously the happiest baby ever.
“She squeals with joy daily and has a smile that will melt your heart.
“Her future is very uncertain, and we don’t know if she will ever walk independently or talk.”
And as any parents would, the two have found it a very hard and emotional time.
Crawford said: “I joined the CTNNB1 Facebook group the day we got the preliminary diagnosis and that has allowed us to connect with other parents around the world who are experiencing the same thing.
“I did a little welcome post and introduced ourselves and they basically 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 realise 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.”
Shreve is now taking part in various therapies to help her condition, including occupational therapy three times a week, physical therapy two times a week and speech therapy three times a week.
As well as DMI intensives a few times a year, these are therapy sessions for two weeks at a time.
She is now able to walk with the assistance of her gait trainer.
She said: “We try to be hopeful and positive while still preparing for more severe side effects of the syndrome.
“Meaning we’re always preparing for the worst and are thinking ahead to making accommodations to our home for accessibility.
“I want to be prepared and we expect her to be our buddy and live with us for the rest of our lives.
“We have to think about things that most parents don’t like who will take care of her once we pass away, how will she live financially?
“Some days it’s hard because you hear parents complaining about how wild their child is or how annoying they are when they’re being talkative and we’re sitting over here wishing our child could be running around getting into trouble or say one word much less a complete sentence.
“It just really puts things into perspective.
“We celebrate every little milestone, no matter how small.”
For now, the family are appreciating every moment together.
Crawford added: “Brenton, Shreve and I are three peas in a pod.
“We love spending as much time together as a family as possible and we love travelling and experiencing different cultures, dining out and cooking, and enjoying the local beaches.
“We learn from Shreve daily. She is hard-working and strong, and she brings so much joy to everyone she meets.
“She is a constant reminder to see the good, be the good, and enjoy the good things in life.
“Shreve is our biggest joy and is so happy every day despite the challenges that she has faced since she was born.”
There is also the possibility of Shreve being entered into a clinical trial, starting in July 2025, if all goes well.
The family are currently fundraising for the charity Dragonfly Donations, which aims to find treatments for CTNNB1.
Crawford said: “The gene therapy would correct the amount of the protein beta-catenin that her body doesn’t produce.
“It won’t correct any brain damage done already but it could prevent any future damage and hopefully help correct a lot of her motor function and behavioural issues.
“They are only able to choose 10-15 children out of 83.
“We are praying that the treatment is successful no matter if we’re in the trial or not.
“If it helps the children in phase 1 then we know there will be a phase 2.
“We just have to raise the money.
“The burden of raising funds for research and treatment for rare disease often falls on the backs of parents.”
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