Olivia Farnsworth is nicknamed “the bionic girl”. Why? The now nine year old girl from West Yorkshire, England, has a chromosome 6 deletion. This is an extremely rare chromosome condition that gives Olivia three seemingly superpowers - she never feels hungry, tired, or in pain. In fact, Olivia can stay up for three days straight without feeling tired and has never even experienced physical pain. But how can this really be possible?
In 2016, Olivia was run over and dragged down the street by a car and hardly reacted - she didn’t scream in pain, she didn’t cry, and she barely seemed to have registered what happened. Olivia’s mother, Niki Trepak, said “She was dragged about ten car lengths down the road. It was horrendous, I don't think it's something I will ever get over. I was screaming and all my other children were screaming as she ran out. But Olivia was just like, 'What's going on?' She just got up and started walking back to me”.
Niki knew her daughter was special and had a high tolerance when it came to pain, but she couldn’t believe this. Olivia’s family rushed to call an ambulance and were shocked by the reactions of doctors at the hospital.
At the hospital, Olivia didn’t complain of any pain and said she felt perfectly normal. Doctors performed a series of tests, anyway, as she could have had broken bones or some kind of trauma. They gave her CT scans, x-rays, and a variety of other tests that came up blank - Olivia was pretty much fine. She had an imprint of the car tire on her chest and the skin on her toes and right hip had been scraped off, but otherwise, the little girl was just fine. Baffled, doctors could only speculate that the reason Olivia didn’t have any serious injuries was because she didn’t tense up and her body remained relaxed. Doctors and consultant geneticists told Olivia and her family that they had never seen anything like this before.
Doctors at the hospital finally realized that Olivia has a chromosome 6 deletion. According to Unique, a chromosome disorder support group that reached out to Olivia and her family, there are only around 100 people with chromosome 6 deletion in the whole world. For executive chief Beverley Searle, Olivia was the first case of the disorder she had ever personally come across. She explained that, “Out of 15,000 chromosome disorder cases worldwide, there may not be anybody out there the same as Olivia”. With few resources available, few people to turn to, and few answers from doctors, having a chromosome disorder can be very frustrating. One in 200 babies are actually born with a chromosome disorder, though “each one can be very different, making them exceptionally rare”.
Chromosome deletion syndromes occur when sections of the chromosome are not formed correctly or not formed at all. Each case is different, but changes in the structure of the chromosome can have mild or serious effects on growth and development, intellectual ability, distinctive facial features, overall health. Chromosome 6, which Olivia is missing, is made up of over 1,000 genes that provide the building blocks for making proteins.
Unlike most other people with chromosome disorders, Olivia doesn’t have any distinctive facial features or physical deformities. There’s currently no cure or treatment for chromosome deletion. Their are some solutions to alleviate each individual’s personal symptoms, however- this is why it is so important for doctors to make an accurate diagnosis and get information about this condition.
Olivia's mom, Niki, had always known that there was something a little special about her. Having already had two children, she knew the way Olivia acted wasn’t normal. She remembers, “Olivia didn't sleep, but I put that down to her being a fussy baby. At about nine months old she stopped napping during the day. But as she got older, she never needed sleep. She survived on about two hours a night and was never tired. The first time Niki remembered her daughter being tired and wanting to sleep was when she started school at age five. Eventually, she started taking melatonin to help her sleep - now Olivia gets around six hours a sleep a night. Niki was never worried that there was something seriously wrong with her, however.
Niki has other troubling memories as well - Olivia stopped breastfeeding at just nine months old. At first, she thought she just didn’t like milk. Niki soon realized, however, that Olivia didn’t like food in general. Her mother recalls, “She's almost become conditioned to eat, she eats at school because everyone else does but she doesn't really need it. Olivia never gets hungry. At home she will go through phases of eating the same thing for months and months and then go off it - once it was milkshakes, once butter sandwiches, once chicken noodles”. While many children are picky eaters, Olivia liked most foods but simply never had an appetite. She does like certain foods, but it is always a struggle for her parents and teachers to get her to eat even those.
Niki used to always joke that Olivia was “made of steel” because she rarely cried or fussed as a baby. While most toddlers cry upon falling over, Olivia just got up and kept walking. Niki viewed this as a good thing, however, and a sign that her daughter was one tough cookie. This changed when Niki got a call from Olivia’s daycare - “One day they rang me and told me she'd fallen and her bottom teeth had gone through her bottom lip. When I arrived to take her to hospital, she wasn't even crying. She had to have plastic surgery and when the surgeon was examining her, he was pulling her lip and she wasn't even flinching. He said to me, there's something not right about her".
For some reason, Olivia also suffers from violent outbursts that are out of line with her personality. Her mother recalls, “She’s head-butted me, punched and kicked me and can have outbursts of swearing which can be embarrassing if we’re out in public. It happened in a park the other week and people were wondering what was going on. They just never know what’s wrong. Everybody laughs because she’s so wild and extreme”. While these outbursts only happen occasionally, Niki worries about what will happen as Olivia gets into high school and becomes an adult - getting into fights at school and punching your boss aren’t exactly things that she would be able to get away with. The outbursts are a symptom of her chromosome deletion disorder, however, and there’s no precise way to stop them from happening.
There were a few other things that made Niki realize Olivia was different to her siblings, Ella-Mae, Archie, Bradlee, and Poppy. As a baby, she suffered from intense colic and her hair didn’t grow at all until about age four. People often mistook her for a boy. As Olivia got older, she always had more and more violent outbursts and tantrums. Understandably, it was a struggle for Niki to find out what was wrong with her daughter - “doctors had no idea what could be wrong with her or what was causing her symptoms”. This was understandable, as Olivia appears to be a normal and healthy child. Her mother says that, “To look at Olivia you don't know anything's wrong with her. I want people to know and to stop judging”.
At first glance, it seems amazing to not ever feel pain or tiredness. This will surely affect Olivia in positive and negative ways as she gets older, however. It is very difficult to force yourself to go to sleep when you’re not tired, and it is not a good habit to depend on sleeping pills every night. Olivia can always cause serious harm to herself and not even notice - symptoms of a serious medical condition wouldn’t be felt by her, and this could be dangerous to her health. Her mother says that, “Doctors have called her the bionic girl, she's made of steel. She's got no sense of danger”. Of course, it is wonderful to get hit by a car and not feel any pain or have any serious injuries.
When playing with her friends or at school, Olivia will often try to get her friends to do exciting and fun things - only she’ll suggest that they jump off a rooftop and they'll exclaim that that’s way too high and dangerous. Olivia’s mom and other siblings also sometimes find it hard to deal with her disorder, as none of them can keep up with her - “she once went three consecutive days and nights with no sleep...as a single mom of five it’s really hard!”. While Olivia can be a handful, her mother admits that “She’ll be the first to share sweets with you. She’s got the best personality. She’s just crazy, but in a good way”.
Unique is a chromosome disorder support group. They network to inform and give support to families of people with gene and chromosome disorders. Their executive chief, Searle, explains that, “I can't comment on this individual case or whether Olivia is 'bionic' - but we are here to help her and her family to alleviate symptoms. As a group we try and find matches and provide information for families, which can be great for friendship and local support". Niki believes that Olivia is a happy little girl and that “she doesn't let any of this affect her - because for her, she's normal”. However, her differences will surely be noticed as she gets older and spends more time around her peers at school.
There is very little research and information available about chromosome disorders, specifically chromosome 6 deletion. This is why Niki and Olivia want to raise awareness about the disease and make other people with similar conditions feel less alone. Searle explains that, “People feel isolated when they are diagnosed with rare disorders”. The only way more is known about the disorder is if cases are recorded - however, doctors often don’t know how to identify or diagnose the disorder and children are routinely misdiagnosed or told there’s nothing wrong with them. Working with Unique has allowed Olivia and her mother to rest a little easier and not feel so alone. They want to help others achieve that feeling of confidence and support.
There are around 15,000 different known chromosome disorders, though only 100 of those are associated with chromosome 6. With so few cases, examples, and knowledge, living with a rare genetic disorder can be very hard - especially if you don’t even know you have it. Katy is another young girl with chromosome 6 deletion, though she doesn't show the same symptoms as Olivia. Her father, Todd, explains that “Today, we are still in the process of discovering where Katy’s condition will lead us in the upcoming years. On one hand, we have no pre-set ideas of what she can’t accomplish; but we also don’t know what will work best”. This should change, however - babies can now be diagnosed with the disorder even in utero. Doctors just have to know what to look for.
Genetic disease testing is now extensive in most developed countries and completely safe. In the old days, this has to be done with amniocentesis and chorionic villus sampling which had risks to the baby’s health. Even in the first trimester of pregnancy, DNA from the baby is already present and in the mother’s blood. This DNA is the key - doctors can then run a variety of genetic tests. Even though there is no cure for chromosome disorders, it is better to know sooner than later. Future accidents can be prevented, you can adjust your life accordingly, and you can find doctors that are specialists in this field. Research can only proceed if there are more documented cases of the disorder, so the only way to find a cure is to give and get information.
While it is impossible for Olivia to not focus on her disorder, she does sometimes use it to her advantage. She loves to stay active and try new things - Olivia was a finalist for the Examiner Pride of Huddersfield Awards. She even sang on X-Factor, the popular singing competition show, in 2015 with Fleur East. Last Christmas, Olivia raised £1 for Unique for every brussel sprout she ate during the holiday dinner.
Things aren’t always easy, however. Niki worries that she’ll never fully trust Olivia to drive a car and often has to treat her like a toddler - everyday objects become dangerous to her and food becomes an obstacle. Olivia likes fruits and veggies, but it is always an ordeal trying to get her to eat them.
Holidays and dinner occasion always pose a challenge for Olivia, as she never wants to eat but doesn’t want to feel weird or left out. Niki says, “Nine out of 10 times she has something different from everyone else. I would rather do that than have her eat nothing. She likes onion bhajis, and luckily, fruit and vegetables so it’ll be bhajis, fruit and vegetables”. Niki has become used to cooking something entirely for Olivia, even though she has no allergies or special diet. She even recalls a time when Olivia “lived on butter sandwiches for about a year. She doesn't feel hunger so I can't threaten her like other children by saying if you don't eat that you'll not get this as she isn't bothered”.
Olivia has five siblings, all sharing the same dad - however, she was the only one born with this special chromosome disorder. Niki’s family doesn’t have any history of genetic disease either. Part of the problem with chromosome and genetic disorders like down syndrome and Olivia’s chromosome 6 deletion is that doctors aren’t exactly sure why they’re caused. Healthy parents can give birth to a child out of the blue with a chromosome disorder. This can make things very frustrating and make both the parents and the child depressed.
Olivia and Niki have accepted her disorder and are living with it exceptionally well, though that’s surely through the help of Unique. The organization even chose their name to try and inspire those with rare genetic diseases - they’re different, but that shouldn’t be a negative thing.
Over the years, Niki has realized that she has to do things a little differently at home. Olivia’s lack of self-awareness and sense of danger definitely presents problems. While candles are normally set out on holiday dinners, Niki has banned them from the house - “We can’t have any candles because she likes putting hot wax on her skin and peeling it off”. Last Christmas, Niki walked into the living room to find Olivia casually swinging off of the Christmas tree. She also chooses birthday presents and gifts carefully - “I have to be careful not to get something with tiny parts and with parts that get hot. I wouldn’t be happy with her having roller skates or a skateboard. She’d be a danger to the public as well as herself”.
Chromosome deletion disorders are fairly common, with down syndrome and Wolf-Hirschhorn syndrome being the most widely known. Chromosome 6 deletion is quite rare, but the fact that Olivia doesn’t feel pain, fatigue, or hunger is extremely rare - no one with chromosome deletion disorder has ever reported these symptoms. The seven year old was even hit by a car and felt nothing - Olivia calmly got up and walked over to her mother and siblings. Miracuously, doctors in the emergency room found that she had no serious injuries. While the disorder does have its benefits, Olivia also by nature gets into a lot of accidents and accidentally injuries herself. Whether a blessing or a curse, Olivia is the only “bionic girl” in the world.