A woman whose rare genetic disorder means her “back is a sheet of bone”, her jaw is “locked”, and she has to use a wheelchair has said she does not let the disease hold her back as she dreams of starting a family, finding her “forever home”, and going swimming again. Carli Henrotay, 27, was diagnosed with fibrodysplasia ossificans progressiva (FOP) – a rare genetic connective tissue disorder characterised by the abnormal development of bone – when she was five years old, and she said she is effectively “growing a second skeleton”.
Following her diagnosis, the Missouri blogger said she had to adapt to a new way of life, as trauma, such as a fall or an invasive medical procedure, could result in bone growth. “The advice my doctor gave my parents was to make sure I’m careful but still enjoy being a child… so we just found safer ways for me to interact with the world,” Carli said.
Carli’s jaw then “locked” when she was seven years old, and years later, after various accidental falls, she lost mobility in her left knee and hip, leaving her unable to walk. While she now has to use a wheelchair, can no longer drive or get out of bed without assistance, and experiences “some level of pain in (her) body 24/7”, Carli said she focuses on what she can do with the help of her family, boyfriend, and assistance dog and “sidekick”, Patience.
She has many hopes for the future, including starting a family via surrogacy or adoption and finding her “forever home” with a swimming pool, as it is “so helpful for the body”, and she wants to inspire others with FOP to “chase their dreams” and “focus on the positives”. “Not having a life plan is very difficult, but I think it’s important to live your life to the best of your ability,” Carli told PA Real Life.
“I can always dwell on the fact that I can’t walk, or I can’t do normal things, but that will take away from the life I do have and the things I can do.” She continued: “While my life will always be focused on my health, my goals are to start a family, get us into our forever home with a pool, and then grow my own brand.”
According to the National Organisation for Rare Disorders, FOP is a very rare genetic connective tissue disorder, which causes the body’s skeletal muscles and soft connective tissues to undergo a metamorphosis, essentially a transformation into bone. Carli, who is an aspiring disability influencer, said her mother noticed her toes “turned inwards” when she was born – an early sign of FOP – but it was only after she accidentally fell backwards off a chair onto her back that doctors made the “miraculous” discovery.
“When I was first diagnosed, at five, it was my back that was affected,” she explained. “I couldn’t bend at the waist; my whole back was a sheet of bone – it has been ever since – and then I lost my ability to move my shoulders and raise my hands over my head.
“Something little happens, and it causes a whole domino effect.” Just two years later, at the age of seven, Carli said her jaw “locked” suddenly.
She initially had 3mm of movement and gradually lost 2mm over time, but an operation to remove her wisdom teeth and four additional molars at the age of 22 created “holes in the back of (her) mouth”, which allow her to eat solid foods and take medicine. Without this procedure, Carli said she would be on a liquid diet, which “would be miserable”, as one of her favourite meals is Froot Loops with marshmallows.
“With my disease, I can’t control a lot of things, but I can control what I eat,” she said. “I feel like I go through enough suffering and pain, and I deserve the ice cream at the end of the day.”
From the age of seven to 20, Carli said she “tried to be as independent as possible” and she did not experience any significant progression as a result of her FOP. She met her first service dog Ralph – her “partner in crime” and “absolute best friend” – when she was eight years old, and he went to school with her.
After Ralph sadly died of cancer in March 2014, she then met her second service dog Patience in May 2015, and she has helped to boost Carli’s confidence significantly. “She is everything I could have asked for in a second dog and she went through sophomore to senior year of college with me; she’s very important,” Carli explained.
“She helps me with tasks like picking things up, which is super helpful, and she can open and close drawers, which is her favourite thing to do still to this day. She can push automatic door buttons and she knows over 40 commands in total, but for me, it’s also about them taking the focus of my disability away from me.”
After leaving college, Carli moved in with her long-term boyfriend of 10 years, Billy Schmitt, 27, who works in IT, and they made numerous adaptations to their home to ensure it is safe, including making the bathroom accessible and adding a lift to the back of the property. However, just months after moving in, Carli pulled her hamstring, leaving her in “agonising pain”, and this led to her losing her ability to walk and becoming a wheelchair user.
Being just 24 years old at the time, she said this was “really hard to process”. “I went from being able to walk to I can’t get myself out of bed, I can’t get myself off the couch, I struggle to get myself out of my wheelchair; it was really challenging,” she said.
In the three years since losing her ability to walk, Carli said she has really focused on her health and wellbeing and, while her FOP can “change at any given moment”, she has many hopes and dreams for the future, and wants to help raise more awareness of the rare disorder. She said: “There are a lot of negatives in this life and in this world, especially having a crippling, progressive disease, but I try to focus on the positives.
“I just want to show up and do the best that I can every day.” To find out more about Carli and her journey, visit her Instagram page @carlilyn.blog or her website at carlilyn.blog
