A 14-year-old girl who was born with an incredibly rare condition that limits all her physical movements has found fame online by sharing details about her illness, which has required her to undergo more than 30 agonizing surgeries, including an operation on her spine and a painful jaw-lengthening procedure.
Grace Novacheck, from Texas, was born with a rare condition known as Escobar’s Syndrome – a genetic condition which affects a person’s joints, leaving them very tight and therefore severely restricting their range of motion.
Doctors believe that both of Grace’s parents, Sunny, 48, and Marcus, 47, are likely passive carriers of the gene, but Grace is the only one affected in her family – who have been forced to shell out $100,000 for her treatment because insurance companies refuse to cover it.
Because her condition is so rare and there are so few sufferers in the US, many of the operations that Grace has had to endure are considered ‘experimental’ and as a result, insurance companies will not pay for it, which has left her parents to foot the bill, even though the procedures have helped to drastically improve her quality of life.
Brave: Grace Novacheck, 14, was born with a rare condition that affects the joints, and she has had to endure more than 30 surgeries to try and treat it
Fighter: The Texas native suffers from Escobar’s Syndrome, which causes the joints to tighten and thereby restricts a sufferer’s movements. It also impacts her growth and development
Looking ahead: Grace underwent her first major operation at just six months old, and has had regular procedures since then to try and make her condition more manageable
After Grace was born in August 2006, she was placed into the neonatal intensive care unit (NICU) for nearly three weeks, due to doctors being concerned about her viability. However, she wasn’t diagnosed with the condition until the day she was discharged, when they visited an orthopedic surgeon.
Due to her condition, Grace’s physical development has been stunted and she didn’t hit her milestones until very late on. She didn’t begin crawling until she was almost one year old and only started walking at three years old.
Grace is also petite in height at just four-foot-six-inches – but she has learned how to adapt and become more resilient each day.
At six months old, Grace had her first surgery which was a mandibular distraction – a method used to increase the length of the jaw bone.
Her condition meant that she was born with a very small jaw that would have severely restricted her ability to move her mouth and the aim of the operation was to give her a better range of movement.
As she was so young, the treatment required an in-depth surgery which included cutting her jawline and inserting a lengthening device.
Since then, she has had 32 further surgeries which have included two sets of fixators being placed on each leg to help straighten them, a cleft palate repair at 18-months-old and most recently, a spine fusion to help treat scoliosis – curvature of the spine.
She has also had her thumb released on her right hand to help relieve some tightness and a tracheotomy, which helped open up her airways.
Grace’s parents believe her most challenging surgery was her first, as it kept her in hospital for over three weeks and post-surgery, they had to continually turn the screws which were protruding out from her neck every eight hours.
To make matters all the more distressing for Marcus and Sunny, they discovered that many insurance companies are not willing to pay for their daughter’s treatment; because the condition is so rare, her procedures are considered ‘experimental’ and therefore are not covered by traditional policies.
But determined to ensure Grace has the best quality of life, the couple have done all they can to provide any treatment she needs – to the cost of $100,000 in medical bills thus far.
Marcus and Sunny worry daily about their daughter’s future, as they are concerned about her independence as she gets older.
Risky: Grace had her first surgery at six months old, a mandibular distraction, which is a method used to increase the length of the jaw bone
Painful: As Grace (pictured with her dad Marcus) was so young, the treatment required an in-depth surgery which included cutting her jawline and inserting a lengthening device
Ongoing: Since then, she has had 32 further surgeries, including a cleft palate repair at 18-months-old and most recently, a spine fusion to help treat scoliosis
Upset: Grace’s parents say that insurance companies will not cover the cost of her medical care because the treatment is considered ‘experimental’
Despite this, Grace is an avid piano player which she started at just six years old and also enjoys playing the cello and guitar, as well as participating in volleyball. She also has a YouTube channel where she spreads awareness for her condition.
Luckily, most of the comments received have been very supportive and complimentary such as, ‘You’re so beautiful’ and ‘Wow, this is amazing’ – but there have been a few trolls who have commented ‘You’re ugly’ and ‘Your appearance is hideous.’
‘During the first trimester of Sunny’s pregnancy, it was identified that Grace had a very small jaw and that she wasn’t moving much,’ said Marcus.
‘During the third trimester, we expected her to be incredibly active like most babies – but Grace was rather docile and essentially curled up into a tight little ball.
‘Whilst she wasn’t diagnosed during pregnancy, doctors were concerned about her viability, so once she was delivered via C-section she was placed into the NICU for two-and-a-half-weeks where she was visited by specialists and students who would observe her.
‘We felt at times frustrated as it seemed like she was a science project, so as soon as she was discharged we took her to an orthopedic surgeon’s office who diagnosed her right away with Escobar’s Syndrome.
‘All of Grace’s joints are overwhelmingly tight and lack a range of motion. Everything from her neck, mouth, arms, legs, hips – you name it, it’s excessively tight. This leads to multiple joint contractures and difficulty in almost any movement, where all aspects of life are impacted.
‘Although this condition is genetic, no-one else in our family has physical symptoms. Myself and my wife were both tested and it’s likely that we are passive carriers, which given our different ethnicities, the odds of us both being carriers is extremely rare.
Costs: The couple has therefore had to pay $100,000 in medical bills thus far – and their daughter still requires more procedures
Concern: The couple also fear how their daughter’s condition will affect her life as she grows up and admit that they are worried about whether she will ever be able to live alone
‘After she came home, we noticed that the syndrome began affecting her physical development in many ways. She didn’t start crawling until she was almost one-year-old and didn’t walk until she was three-years-old, so physical milestones were rather delayed.
‘At six-months-old, she was admitted for the first of many surgeries where she had surgery to help bring her jaw forward and open her airway more. This was one of the more in-depth surgeries since she was so young and they had to cut her jawline and insert a lengthening device.
‘Post-surgery, we had to turn the screws protruding from her neck every eight hours and as parents, we were losing it internally – but did our best to be calm for Grace.
‘So far, she has had 33 surgeries to date which have mostly consisted of craniofacial and orthopedic surgeries.
‘These have included two sets of external fixators on each leg to help straighten and lengthen them, as well as multiple surgeries on her jaw area and a cleft palate repair.
‘She’s also had a spine fusion to help treat her scoliosis, a tracheostomy and has had her thumb released on her right hand to relieve some tightness and to allow her to grip and function better.
‘Initially, all of these have been successful – but over time, her body’s natural tendency is to stiffen up and revert back as she grows and essentially, genetics try to undo all of the progress we have tried to make.
‘Usually, the surgeries only take around four to six hours, but the ones on her legs took almost ten hours to complete. Her recovery is usually just a few days and she’s up and bossing people around right away – but some do take longer than others.
‘I think the hardest part is letting go – you do everything you can as parents and then you walk her back to the operating room, give her meds and then she falls asleep. You have to sit and wait patiently whilst the doctors do their work and you sit there with no news for hours whilst your mind starts to imagine the worst – after thirty-three surgeries, we still cry every time.
‘A lot of her medical bills haven’t been covered by insurance, as due to the small number of Escobar patients and even fewer studies on treatment, many of her procedures were deemed ‘experimental’ or ‘unproven’ and for a young family, that has been a huge financial burden.
‘Grace will still need surgeries in the future, such as another mandibular distraction for her jaw and orthopedic surgeries on her legs – but to date, we have spent well into six figures on her medical care.’
Marcus and Sunny worry daily about their daughter, particularly as she is getting older, such as about her being able to live by herself, her physical development as she reaches womanhood and her ability to find a career that fits her abilities.
‘We worry about her emotional well-being given how her life is so different from that of her peers and it can be challenging to make friends when you have such unique experiences that others cannot relate to,’ said Marcus.
‘Of course, we worry about her heart and hope that she will find her soulmate and that she’ll be able to realize her dreams in both a personal and professional way – life is hard enough, but even more difficult as a disabled member of society.
‘However, mentally and academically she is thriving. Grace began taking piano lessons when she was just six years old and it has helped her brain development to an extent. She also loves playing the cello and guitar, as well as drawing and other art.
‘She also likes to look at different fashion magazines and plays volleyball in a recreational league. Currently, she is enrolled in an International Baccalaureate public school, which offers support for her disability.
Looking ahead: ‘We worry about her emotional well-being given how her life is so different from that of her peers,’ her father said
Moving forward: Grace will have to undergo more procedures throughout her life, including another jaw-lengthening surgery
‘We started a YouTube channel around two years ago with the purpose to spread awareness and joy – we try to educate, tell stories that demonstrate the struggles that most are unaware of and try to make the world better.
‘I don’t think it’s really sunk in yet that she has nearly nine-thousand-subscribers and thousands of viewers on each video and I don’t think she recognizes the impact she’s had on people either.
‘As long as we stay true to the message of kindness, awareness and making the world better, we are generally fine with its influence and the vast majority of comments are really supportive.
‘Sometimes she wants to engage with trolls, who leave comments such as ‘You’re weird’ and ‘Ugh, so spoiled’ and we have to encourage her to take the high road. She once read the saying ‘Hurt people hurt other people’ which has really stuck with her and makes it easier to forgive others.
‘Grace’s future is wide open; she has four years of high school left where we will continue to expect strong academic and piano performance, as well as expecting her to take part in extracurricular activities such as volunteering.
‘She will take a gap year after she graduates high school where she will have the majority of her final surgeries, which will prepare her for adult-hood and then she will be off to university to explore different career paths.
‘I think the most challenging part of Grace’s journey so far is maintaining toughness through the whole journey. We’ve made it through a lot, but we still have a long way to go.
‘There are the regular things that parents worry about, but we worry if she will be able to do those things independently and if not, whether we’ll be able to get her the help she needs.
‘Although we have a good support system in our friends and family, who are always there to take care of her when we need a break and just for encouraging words, understanding friends have sometimes been hard to come by.
‘I think a lot of other kids cannot relate to what she is going through, but I think that is part of teen life as they all develop into different people.
‘Our advice to Grace is to always work hard and know that her family is always there for her. You can’t take ‘no’ for an answer in your career or life and although her version of doing things may look different to others, she can accomplish whatever she puts her mind to.
‘Try not to focus on the setbacks or the difficult parts – there’s a time and place where you can feel sorry for yourself, but eventually you have to either accept reality or change it.
‘Be grateful for the many wonderful things in life and stay kind, be generous and make the most out of the gifts and talents you’ve been blessed with.’