A toddler with a rare chromosome disorder has made doctors feel wrong when they said he probably would never be able to crawl, sit, walk or talk.
Ethan Bothe, one of North Carolina, has a distal chromosome 18q deletion syndrome that occurs in about 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 an enormous list of medical problems, including poor muscle tone, growth problems, loss of vision and hand, food, sight and head defects.
Although Ethan has serious development problems, he has reached a milestone that his doctors thought he would never achieve.
He started crawling in February and can now pull himself up to stand and say: & # 39; mommy & # 39; and & # 39; dada & # 39 ;. His progress has struck his geneticist and parents in awe.
Ethan Bothe must wear a skull helmet (pictured) because his head started to develop abnormally
When Ethan was born in March 2018, his parents, Jennifer Bothe, 32 and Kyle Bothe, 34, from North Carolina, were devastated when doctors said he would probably never be able to crawl, sit, walk or talk. Depicted in the hospital at birth
Ethan, now a year 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, loss of vision and hand, food, sight and head defects. Pictured with Mrs. Bothe
Mrs. Bothe said: “The first time Ethan got up at a table, I cried, the first time he said I was crying, the first time he swallowed food that had not been pureed.
& # 39; Every time Ethan knew something that we knew was immensely difficult for him, I was completely overwhelmed by emotion.
& # 39; I have since heard that they train doctors at medical school to say "I'm sorry" when they make such a diagnosis.
& # 39; But I am convinced that this must change. Parents do not want sympathy for their child's existence and say, "I'm sorry," which makes it seem like there is something terrible to be sorry about, while this baby can actually teach us more about love , acceptance and inclusion than anything or anyone else in this world. & # 39;
WHAT IS DISTAL CHROMOSOME 18G DELETION SYNDROME?
Chromosome 18q deletion is a rare genetic disorder that leads to various medical conditions.
It is a chromosomal disorder in which there is a deletion of part of the long arm of chromosome 18.
The degree of severity varies from case to case and deletions are proximal where the deletion is closer to the center of the chromosome or distal where the deletion is at the end.
The characteristic features generally include short stature, hypotonia (poor muscle tension), hand and foot abnormalities, head and face abnormalities, including microcephaly (small head), a & # 39; carp-shaped & # 39; mouth, deep-set eyes or an unusually flat or underdeveloped mid-facial region.
According to U.S. National Library of Medicine deletion of chromosome 18q occurs in about one in 55,000 newborns worldwide.
Since the condition was originally reported in the medical literature in 1964, more than 80 cases have been registered, according to the National Organization for Rare Diseases.
It can be inherited from both parents, but can also be & # 39; de novo & # 39; which means that it is unique to the person being affected.
In 2017 Mrs. Bothe became pregnant for the second time after she had welcomed her and Mr Bothe's first child, Ella, now three, in 2016.
A routine genetic screening early in her pregnancy pointed to red flags that could not be identified without further investigation showing that her unborn son had one kidney.
Ethan was born in March 2018 and tested again in the months that followed.
Mrs. Bothe said: & # 39; We knew something was not a hundred percent with Ethan, but we had no name for it until this encounter with the geneticist.
& # 39; Frankly, Kyle and I were both very positive that it wasn't anything great. & # 39;
In July 2018, Jennifer and Kyle attended their first geneticist appointment.
Mrs. Bothe said: & # 39; When we sat down with the geneticist, she said: & # 39; I am very sorry to tell you this, but your son has a rare genetic condition called chromosome 18q deletion syndrome. & # 39;
The couple was told that Ethan's condition, together with hypotonia, which has a very low muscle tone, would mean that it was unlikely that he could ever sit, crawl, stand, walk or talk and that he had his eyesight and lose hearing.
There is a high risk that he loses his eyesight, and his hearing as he gets older, and he will be very small in shape because he is likely to have a low growth hormone.
Mr. and Mrs. Bothe were told in July 2018 that Ethan had the syndrome after genetic testing. They were shocked because the only thing noticed at birth was camptodactic – a medical condition that causes one or more fingers to be permanently bent. Mrs. Bothe said she crumbled & # 39; and felt that her child had died
Doctors said that Ethan needed intensive therapy, including physical therapy, occupational therapy, speech therapy and possibly nutritional therapy. Depicted in the hospital
The couple was told that Ethan's condition, together with hypotonia, which has a very low muscle tone, would mean that it was unlikely that he could ever sit, crawl, stand, walk or talk and that he had his eyesight and lose hearing. Depicted in the hospital
He would need intensive therapy, including physical therapy, occupational therapy, speech therapy and nutritional therapy.
Moreover, the doctors said that he will never have children, and certainly never lead an independent life.
Mrs. Bothe said: & I felt that I was hit with a lot of bricks. A few hours before this appointment, Kyle and I discussed how happy we were that Ethan had researched so well.
& # 39; I had only felt nine months pregnant when I felt an overwhelming sense of relief when we were told that he & # 39; worked out well & now I heard that he had an extremely complicated genetic disorder.
& # 39; I just collapsed under the weight of the doctor's words. At that moment I felt my heart fall apart into a million pieces and I cried.
& # 39; It was a cry so full of fear and sorrow because I felt someone had said that my baby had died. & # 39;
In the past year, Ethan has had numerous tests and doctor's appointments to determine how his condition affects him and he needs intensive therapy, including physical, speech and feeding therapy.
Ethan wears a helmet because he had extreme torticollis, meaning that the muscles on one side of his neck were extremely tight, leading to plagiocephaly, an asymmetrical skull distortion
Ethan has managed to learn to wave, clap and shake his head and say the name of his three-year-old sister, Ella. The most heart-warming thing to see the brothers and sisters play, Mrs. Bothe said
Ethan has allergies, reflux, kidney problems and growth retardation. Pictured, with allergy tests in the hospital
Ethan has camptodactylia, which means that his fingers are bent permanently, making it difficult to use his hands like other children, allergies, reflux, kidney problems and a retarded growth.
He was wearing a skull helmet as his head began to develop asymmetrically.
He makes his low muscle tone difficult to reach his motor milestones and there are abnormalities in his feet – which are not yet fully understood.
Mrs. Bothe said: & # 39; The first therapy in which Ethan participated was chiropractic care. He had extreme torticollis, meaning that the muscles on one side of his neck were extremely tight, leading to plagiocephaly (an asymmetrical distortion of the skull).
& # 39; That's why he's wearing a skull helmet.
& # 39; Ethan currently sees continuous and weekly physical therapy, occupational therapy and nutritional therapy. & # 39;
But strangely enough, Ethan takes everything in with a smile on his face and his arrival has made the family stronger.
Ethan has managed to learn to wave, clap, shake his head and say his sister's name.
In December 2018, a geneticist was surprised at Ethan's progress, according to Mrs. Bothe, and his ability to sit comfortably 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 with a smile on his face and his arrival has made the family stronger. On the photo, Mr. and Mrs. Bothe, Ethan and Ella
Mrs. Bothe said: & I was completely overwhelmed by emotions every time Ethan achieved something that we knew was immensely difficult for him & # 39;
& # 39; I have come to realize that Ethan was not the baby I expected. He is so, so much more. & # 39;
The most heart-warming thing to see is that Ethan and his older sister, Ella, play.
Mrs. Bothe said: & # 39; Ethan is awe-struck by his sister Ella. As a mother, it is incredibly heartwarming to see how the two interact with each other.
& # 39; She is the perfect sister for him. I think she feels his vulnerability even at just three years old, which makes her extremely empathetic and caring. & # 39;
Mrs. Bothe shared her advice about other families experiencing a similar situation and to the doctor who gave them such a bleak prognosis.
She said: & I would tell the doctor to do something about their birth, to put themselves in the shoes of the parents they are talking to and to understand how difficult it is to make an unexpected diagnosis for to have them.
& # 39; Children are so resilient and so much stronger than what we give them recognition for. Miracles happen every day, so never give up on your child. & # 39;
Mrs. Bothe shares her family's trip on Instagram to draw attention to the rare disease of Ethan.