A three-year-old boy who was born with a tongue that is four times too big for his mouth is now facing a dangerous surgery as doctors fight to stop the ever-growing organ.
Owen Thomas, from Pennsylvania, suffers from an extremely rare disease called Beckwith-Wiedemann Syndrome (BWS), a condition that causes overgrowth in different areas of the body, and affects just one in 15,000 babies.
His mother, Theresa Thomas, 30, received the diagnosis for her toddler in 2018, just two weeks after he was born, revealing that the condition was putting her son’s life at serious risk, leaving him unable to breathe.
Three-year-old Owen Thomas, who suffers from a rare disease called Beckwith-Wiedemann Syndrome (BWS), was born with a tongue that was four times too big for his mouth
At first, doctors said Owen’s tongue was ‘just a little swollen’ but further tests revealed that the organ was obstructing the child’s airway – and he had to undergo lengthy surgery to reduce it
Owen’s mother Theresa, 30, from Pennsylvania, received her son’s diagnosis just two weeks after he was born
At first, doctors said Owen’s tongue was ‘just a little swollen’ but further tests revealed that the organ was obstructing the child’s airway, showing that it was four times too big for his mouth.
Owen underwent a lengthy surgery to remove two inches of his tongue, eradicating obstructive sleep apnea and leaving him with an organ that didn’t take up his entire mouth cavity.
Unfortunately, it’s not a permanent fix, and Owen’s tongue continues to grow to this day. Now, doctors are desperately trying to find a way to slow the growth, and operate on the young boy before it’s too late.
‘Owen was officially diagnosed at the Children’s Hospital of Philadelphia by their BWS genetics team,’ Theresa, who owns a small business, told Jam Press.
‘I knew in my heart that this is how Owen was made and that he had BWS but even though I knew it, it didn’t make the official diagnosis any easier.
‘I remember feeling sick to my stomach and I almost vomited at the appointment.
‘Before Owen, I had never heard of his syndrome. Even doctors I worked with at the time have never heard of it.
Theresa (pictured with her husband, Owen and his older brother Michael) had to use a digital monitor to track their son’s oxygen levels because his tongue blocked his airways
Plastic surgeons performed a lengthy surgery to remove two inches of Owen’s tongue and make it easier for him to breathe
Following the initial operation, Owen (pictured after the procedure) spent 10 days in hospital – however the surgery is not a permanent fix and the toddler’s tongue is still growing
What is Beckwith-Wiedemann Syndrome?
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that occurs in approximately one in 15,000 births.
BWS is variable, with some children having a number of features of the condition, while others only have one or two.
The most common features include:
- Increased height and weight at birth or in childhood
- Asymmetry of growth – for example one arm or leg larger than the other
- Large tongue size
- Low blood sugar in the first few days or weeks of life
- Umbilical hernia or other abdominal wall defect
- Some children are at risk of Wilms’ tumor of the kidney
Other features include subtle alternations in the shape of the ears and more rarely a cleft palate or a congenital heart defect.
It is usually diagnosed with a test using a blood test and in 80 per cent of children with the condition, the molecular testing is positive. If it is negative, a geneticist will advise whether they can confirm the diagnosis on clinical grounds alone.
BWS is caused by abnormalities at chromosome 11p15. Most cannot be inherited and have a very low chance of happening again in the family, while a few can be and have an increased chance.
Treatments depend on the features of the condition the child displays and they will have regular appointments with a general pediatrician during early childhood.
- Children born with a major abdominal wall defect will usually require surgery in the first few days of life. It will usually have been detected in pregnancy.
- Children with asymmetry of growth affecting the legs should be referred for assessment by an orthopedic surgeon. In many cases, a shoe orthotic such as a heel raise is required, while some children undergo minor surgery later in childhood.
- An enlarged tongue may cause difficulties with feeding, speech, the development of the teeth and jaws, and increased drooling. A speech and language therapist can provide support from infancy and referral to a specialist team is often beneficial.
Some children with the condition are at an increased risk of Wilms’ tumor of the kidney, which usually occurs in young children under the age of five years.
The cancer is cured in around 90 per cent of children and it is recommended that children with the condition get kidney ultrasound scans every three to four months until they are seven years old.
Source: Great Ormond Street Hospital for Children
‘The syndrome was discovered in the 1960s so there is still so much they don’t know.’
Barring a few scans that showed her son was measuring extremely large, Theresa experienced an otherwise normal pregnancy.
Owen was born on February 7, 2018 and weighed just under 12 pounds.
She said: ‘He was born via C-section, because he was so large they had a difficult time controlling my bleeding.
‘My umbilical cord and placenta were also much larger than normal. I wound up losing a lot of blood during delivery and became anemic.
‘His tongue was enlarged at birth and they brushed it off and said they thought it was swollen.
‘But my nurse told me that I should push the issue and the doctors started to investigate whether he had signs of BWS.’
Owen was allowed back home but Theresa and her husband were forced to use a breathing apparatus to monitor him at all times – the results of which spurred plastic surgeons into taking action.
Owen’s condition and treatment have difficult for his parents to cope with – and Theresa says it has caused issues in their marriage because they are both dealing with it in different ways
Recalling the moment she was given Owen’s official diagnosis, Theresa said: ‘I remember feeling sick to my stomach and I almost vomited at the appointment’
To make matters worse, Owen is at risk of developing cancer as a result of his condition, so he has to be screened by ultrasound and blood work every three months
‘In the beginning, I basically didn’t sleep,’ she explained, revealing that they finally bought Owen an Owlet Smart Sock – a digital monitor that tracks a baby’s heart rate and oxygen levels – which would alert them if their son was in distress.
‘Luckily, while we waited for him to see [a] plastic surgeon, we purchased the Owlet Sock to monitor his oxygen levels while he slept,’ Victoria said.
‘I am so thankful we bought that little device. It alarmed me a few times telling us he wasn’t getting enough oxygen while he slept. It saved his life on multiple occasions.’
Following the initial operation, Owen spent 10 days in hospital.
The experience has been incredibly tough for his parents, who coped in different ways – which caused issues in their marriage.
The future for children battling BWS is uncertain, which has also left Theresa with anxiety problems.
Theresa said: ‘The recovery was probably harder on me and my husband Mike than it was for Owen.
‘We had very different ways of dealing with it.
Before he had two inches of his tongue removed, Theresa says Owen would ‘stop breathing in his sleep and choke so hard he would vomit’
The future for children battling BWS is uncertain, which has also left Theresa with anxiety problems (Owen, left, is pictured with his older brother Michael)
Theresa said: ‘I always make sure not to treat him any differently than I would our other son Michael, who is six’
‘He handled it by acting like everything was fine, which was difficult for me so we had a lot of arguments in the beginning.
‘However, over time we grew and learned how to communicate and be there for one another despite the fact that we handled his disease differently.
‘I’ve felt helpless at times. You never want to see your child going through pain.
‘It’s one of the worst things to witness as a mother, however, I have learned so much about the strength our son possesses.
‘It’s truly amazing to see how much he accomplishes every day.
‘Once they took Owens breathing tube out he ate like a champ from his bottle and never acted like he was in any pain. His stitches took a few weeks to completely dissolve.
‘Before the operation, his tongue was always out of his mouth. So many times he would stop breathing in his sleep and choke so hard he would vomit.’
To make matters worse, Owen is at risk of developing cancer as a result of his condition.
Despite this major setback, Owen is steps ahead when it comes to his speech, having worked alongside a speech therapist
The mother also has a blog about Owen and her family’s life with the rare disease, as well as co-hosts a podcast
Theresa uses her personal experiences of BWS to advocate for those not offered the same level of support as her family has received
She said: ‘BWS is a watch-and-wait syndrome. Every child is different and is affected in different ways.
‘Owen does have an increased risk of developing cancer so he is screened by ultrasound and blood work every three months. His type of BWS means that his tongue continues to grow.
‘This has been something that has been really hard for us to stomach because we see it getting bigger.
‘We will meet with his plastic surgeon in the summer to discuss what they feel is the best plan for him.’
Despite this major setback, Owen is steps ahead when it comes to his speech, having worked alongside a speech therapist.
Theresa said: ‘I always make sure not to treat him any differently than I would our other son Michael, who is six.
‘Owens’s tongue affects his speech, as well as his eating. He has been in speech therapy very early on, which has helped so much, and also had feeding therapy to help him navigate eating solids.
‘He drools more than most kids and in the summer we have to try to have him wear a hat when in the sun because his tongue does actually get burnt, but other than that he is doing extremely well.
Theresa said: ‘In the summer we have to try to have him wear a hat when in the sun because his tongue does actually get burnt, but other than that he is doing extremely well’
The mother added: ‘Before Owen, I had never heard of his syndrome. Even doctors I worked with at the time have never heard of it’
‘He is so far ahead of where he should be. We couldn’t be prouder of him.’
Theresa uses her personal experiences of BWS to advocate for those not offered the same level of support as her family has received.
The mom also has a blog about Owen and her family’s life with the rare disease, as well as co-hosts a podcast.
She added: ‘My hope for the future is that the standard of care for all BWS children will be universal.
‘Right now that standard of care is not the same for all BWS depending on what country you live in.
‘Some places such as the UK do not screen BWS children who are in the lowest cancer risk group.
‘My heart breaks for the moms I have connected with, knowing that their child is at risk for cancer and they are not being offered the screens.
‘I also hope that more is discovered about BWS and adulthood and that more and more doctors become more educated in BWS so they know how to help BWS children and their families.’