A toddler with a rare chromosome condition has proved doctors wrong after they said he would likely never be able to crawl, sit-up, walk or talk.
Ethan Bothe, one, of North Carolina, has distal chromosome 18q deletion syndrome, which occurs in around one in 55,000 births worldwide.
His parents, Jennifer Bothe, 32, and Kyle Bothe, 34, were devastated when doctors said Ethan would need therapy for the rest of his life.
The condition leads to a huge list of medical problems, including poor muscle tone, growth problems, vision loss and hand, food, face and head abnormalities.
Although Ethan has severe development problems, he has reached a milestone his medics thought he may never achieve.
He started to crawl in February and can now pull himself up to stand and can say, ‘mama’ and ‘dada’. His progress has left his geneticist and parents awe-struck.
Ethan Bothe must wear a cranial helmet (pictured) because the muscles on one side of his neck were extremely tight, which lead to plagiocephaly, also known as ‘flat head’ syndrome. The helmet helps the skull to grow more evenly by applying pressure in ‘bulging’ places
When Ethan was born in March 2018, his parents, Jennifer Bothe, 32, and Kyle Bothe, 34, of North Carolina, were devastated when doctors said he would likely never be able to crawl, sit-up, walk or talk. Pictured in hospital at birth
Ethan, who is now one years old, was diagnosed with rare distal chromosome 18q deletion syndrome. It leads to a huge list of medical problems, including poor muscle tone, growth problems, vision loss and hand, food, face and head abnormalities. Pictured with Mrs Bothe
Mrs Bothe said: ‘The first time Ethan stood up at a small table I cried, the first time he said mama I cried, the first time he swallowed food that wasn’t pureed I cried.
‘I was completely overwhelmed with emotion every time Ethan achieved something we knew was infinitely difficult for him.
‘I’ve since heard that in medical school they train doctors to say, “I’m sorry” when they are delivering a diagnosis like this. But I firmly believe that needs to change.’
She added: ‘Parent’s don’t want sympathy for the existence of their child and saying, “I’m sorry” makes it seem like there’s something devastating to be sorry for.
WHAT IS DISTAL CHROMOSOME 18G DELETION SYNDROME?
Chromosome 18q deletion is a rare genetic condition that leads to a variety of medical conditions.
It is a chromosomal disorder in which there is a deletion of part of the long arm of chromosome 18.
The level of severity varies from case to case and deletions are either proximal where the deletion is closer to the centre of the chromosome or distal where the deletion is at the end.
Its characteristic features generally include, a short stature, hypotonia (poor muscle tone), hand and foot abnormalities, head and facial abnormalities which can include microcephaly (small head), a ‘carp shaped’ mouth, deep set eyes or an unusually flat or underdeveloped midfacial region.
According to the U.S. National Library of Medicine, chromosome 18q deletion occurs in approximately one in 55,000 newborns worldwide.
Since the disorder was originally reported in the medical literature in 1964, more than 80 cases have been recorded, according the the National Organisation for Rare Disorders.
It can be inherited from either parent but can also be ‘de novo’, which means that it is unique to the person effected.
‘When in fact, these babies can teach us more about love, acceptance and inclusion than anything or anyone else in this world.’
In 2017 Mrs Bothe became pregnant for a second time after welcoming her and Mr Bothe’s first child, Ella, now three, in 2016.
A routine genetic screening early in her pregnancy indicated red flags that couldn’t be identified without further testing which showed her unborn son only had one kidney.
Ethan was born in March 2018 and in the months that followed he underwent further testing.
Mrs Bothe said: ‘We knew something was not one hundred per cent with Ethan, but we didn’t have a name for it until this meeting with the geneticist.
‘Frankly, Kyle and I were both really positive it was nothing big.’
In July 2018 Ethan’s parents attended their first geneticist appointment.
Mrs Bothe said: ‘When we sat down with the geneticist she said, “I’m very sorry to tell you this but your son has a rare genetic condition called chromosome 18q deletion syndrome”.’
The couple were told that Ethan’s condition, along with hypotonia, which is very low muscle tone, would mean it was unlikely he would ever be able to sit up, crawl, stand, walk or talk and that he might lose his sight and hearing.
There is a high risk of him losing his vision and his hearing as he gets older and he will be very short in stature because he will probably have low growth hormone, doctors warned.
Mr and Mrs Bothe were told in July 2018 that Ethan had the syndrome after having genetic testing. They were shocked as the only thing that had been noticed at birth was camptodactyly – a medical condition that causes one or more fingers to be permanently bent. Mrs Bothe said she ‘crumbled’ and felt like her child had died
Doctors said Ethan would need intensive therapy including physical therapy, occupational therapy, speech therapy and possibly feeding therapy. Pictured at hospital
The couple were told that Ethan’s condition, along with hypotonia, which is very low muscle tone, would mean it was unlikely he would ever be able to sit up, crawl, stand, walk or talk and that he might lose his sight and hearing. Pictured in hospital
He would need intensive therapy including physical therapy, occupational therapy, speech therapy and feeding therapy.
On top of this, the doctors said he will never live an independent life, and therefore never have children.
Mrs Bothe said: ‘I felt like I had been hit with a ton of bricks. Just hours before this appointment Kyle and I had been discussing how lucky we were that Ethan had examined so well.
‘I had worried for nine months of pregnancy only to feel an overwhelming sense of relief when we were told he seemed to “check out fine” and now I was being told he had an extremely complicated genetic condition.
‘Under the weight of the doctor’s words I just crumbled. In that moment I felt my heart shatter into a million pieces and I cried.
‘It was a cry so completely full of anguish and heartache because I felt like someone had told me my baby had died.’
Over the past year, Ethan has had countless tests and doctor appointments to determine how his condition is affecting him.
Ethan wears a helmet because he had extreme torticollis, meaning the muscles on one side of his neck were extremely tight, which lead to plagiocephaly, an asymmetrical distortion of the skull
Ethan has managed to learn how to wave, clap and shake his head as well as saying his three-year-old sister’s name, Ella. The most heartwarming thing to see the siblings play, Mrs Bothe said
Ethan has allergies, reflux, kidney problems and a growth deficiency. Pictured, having allergy tests in hospital
Ethan’s condition leaves him with a kidney problems, growth deficiency and camptodactyly, which means his fingers are permanently bent making it difficult to use his hands like other children.
His poor muscle tone makes it difficult for him to achieve his motor milestones and there are abnormalities in his feet – which have not yet been fully understood.
He also suffers allergies, a reflux problem and food protein induced enterocolitis syndrome (FPIES) – although it is not clear if this is caused by his chromosome condition.
Ethan had extreme torticollis, meaning the muscles on one side of his neck were extremely tight, which lead to plagiocephaly, also known as ‘flat head’ syndrome.
Babies commonly develop a mishapen head – flattened on the side of back – usually as a result of spending too much time lying down.
‘Chiropractic care was our first attempt at helping Ethan to correct his plagiocephaly before moving forward with his cranial helmet.’
The helmet applies pressure to the ‘bulging’ parts of the skull to relieve pressure on the flatter parts and allow them to grow more evenly.
‘Currently, Ethan sees physical therapy, occupational therapy and feeding therapy on an ongoing and weekly basis’, Mrs Bothe said.
But Ethan has managed to learn how to wave, clap and shake his head as well as saying his sister’s name.
In December 2018, a geneticist was amazed at Ethan’s progress and his ability to sit up far exceeded the expectations of his diagnosis for his age.
Mrs Bothe said: ‘I wish I could go back to that moment [the diagnosis] and tell that sobbing heartbroken woman what I know now.
‘I wish I could tell her that Ethan would be one of the greatest gifts of her life, and that he would teach her more about love and patience, strength and resilience than she would ever know.
Ethan takes everything in his stride with a smile on his face and his arrival has made the family stronger. Pictured, Mr and Mrs Bothe, Ethan and Ella
Mrs Bothe said: ‘I was completely overwhelmed with emotion every time Ethan achieved something we knew was infinitely difficult for him’
‘I’ve come to realise that Ethan was not the baby that I expected to have. He is so, so much more.’
The most heartwarming thing to see is Ethan and his older sister, Ella, playing.
Mrs Bothe said: ‘Ethan is awe-struck by his sister Ella. As a mother, it is unbelievably heart-warming to see the two of them interact.
‘She is the perfect sister for him. I think even at only three years old she senses his vulnerability, which allows her to be extremely empathetic and caring.’
Mrs Bothe shared her words of advice to other families who might be going through a similar situation and to the doctor who gave them such a bleak prognosis.
She said: ‘I would tell the doctor to just work on their delivery a little more, to put themselves in the shoes of the parents who they are talking to, and to understand how difficult hearing an unexpected diagnosis would be for them.
‘Children are so resilient and so much stronger than we give them credit for. Miracles happen every day, so never give up on your child.’
Mrs Bothe shares her family’s journey on Instagram to raise awareness for Ethan’s rare condition.