The woman who slowly & # 039; turns to STONE & # 039;: Condition causes muscles to gradually turn into bone
A woman suffers from a rare condition called & # 39; Stone Man Syndrome & # 39; which causes muscles and tissues to turn into bone.
Carli Henrotay, 23, from Saint Louis, Missouri, is one of the 800 people known to have fibrodysplasia ossificans progressiva (FOP).
The paralyzing condition, which is currently incurable, is getting worse over time and patients have a life expectancy of around 40.
Miss Henrotay's mobility is severely limited: she cannot raise her arms above her head, bend her waist or stand on two legs because her joints are locked.
Her back is & # 39; a sheet of bone & # 39 ;, she needs to use a wheelchair to move while her jaw opens only a few millimeters.
It is also extremely fragile because patients with FOP live in fear and know that minor injuries can cause the acceleration of bone growth.
At the age of five, doctors diagnosed the condition by chance when they found that she had large toes that were shorter than her other toes – a tell-tale.
Carli Henrotay, 23, is one of the 800 known people with Fibrodysplasia Ossificans Progressiva (FOP), also known as & # 39; Stone Man Syndrome & # 39 ;. Because her mobility is being seriously affected, she must use a wheelchair to travel. Depicted with her dog in March
The condition causes muscles and connective tissue to slowly turn into bones, causing a second skeleton to grow. Pictured, a close-up of Carli Henrotay & # 39; s in 2005
At the age of five (photos & # 39; s), doctors diagnosed the condition by chance when they found that she had large toes that were shorter than her other toes – a tell-tale
Miss Henrotay said, & # 39; FOP is a one-in-two million disease, although there are indications that it looks a bit more than that.
& # 39; FOP mainly affects me in a number of different places; my jaw is locked and I have less than 2 mm opening, so it makes it harder for me to eat or talk and project my voice.
WHAT IS FIBRODYSPLASIA OSSIFICANS PROGRESSIVES?
Fibrodysplasia ossificans progressiva (FOP) is a rare, debilitating genetic disorder, nicknamed & # 39; Stone Man Syndrome & # 39 ;.
It causes bone formation in muscles, tendons, ligaments and other connective tissues.
Edges with extra bone develop over the joints, progressively restrict movement and form a second skeleton that confines the body in the bone.
Only in 2006 did researchers discover that FOP is caused by a mutation in the ACVR1 gene that controls the growth and development of bones and muscles.
Of course, cartilage is replaced by bone from birth to adolescence. But scientists say the mutation gene receptors are constantly & # 39; to & # 39; can let stand, causing bones to grow and fuse joints.
Those with the disorder experience their first & # 39; flare-up & # 39; usually at the age of 10. Children with FOP begin to grow extra bones in their neck and shoulders, and go through the body to the feet.
According to the National Center for Advancing Transnational Sciences, the condition affects around one in 1.6 million newborns.
There are only around 800 people in the world who have the condition.
Currently there is no cure and the treatment consists of drugs that reduce inflammation and relax the muscles.
Most FOP patients are bedridden at the age of 20 and die around the age of 40.
FOP can eventually cause death if the cartilage that holds the ribs together also solidifies, making it impossible to breathe.
Patients may eventually suffocate or have cardiac arrest if their body tries to get enough oxygen.
& # 39; My shoulders and neck are also locked, so I can no longer do or drive my hair. And my hip is also locked and that's why I walk with weakness or use other mobility aids only because I can't walk that long. & # 39;
Miss Henrotay added: & # 39; The first thing I had to do was my back. Over time it has turned into a piece of bone.
& # 39; FOP causes a lot of pain. I never know how to answer the question "on a scale of one to ten what is your pain?" because I live in pain every day and every moment. I am lucky that I have such high pain relief. & # 39;
FOP is a rare genetic disorder in which damaged muscles and soft tissues – such as ligaments and tendons – grow back like bone.
These new bones ultimately form a second skeleton and severely limit patients' ability to move.
Miss Henrotay was an active child for her diagnosis. She loved swimming, running outside and playing football.
All this changed when doctors told Miss Henrotay's parents that their daughter had a rare and progressive disease.
Miss Henrotay, an A-student, was five and a half when she was diagnosed – but only by chance.
She said: & # 39; I had a very bad fall on a bar stool's back in 2001 and had a lot of swelling and a lot of pain. & # 39;
The disease can get worse if the person injures himself, because it causes a flare-up of swelling and faster bone development.
It is why operations to remove pieces of bone are not possible because it would only cause more bone formation.
According to Miss Henrotay, anything as small as a papercut can cause disease progression.
Miss Henrotay said: & # 39; We went to the doctor and he didn't really know what the swelling was, so he ordered a biopsy. & # 39;
But before the results of the biopsy, Miss Henrotay & # 39; s mother Lori brought her to their regular doctor, Dr. Martin Schmidt.
Before her diagnosis, Miss Henrotay was an active child that she tried to keep up with throughout the school. Pictured, cheerleading in 2013. She took a flamingo-like position to help with balance, while her closed hip lets her bend her slightly forward when they are two feet on the floor
Although Miss Henrotay needs help doing most things, she is determined to be as independent as possible. She graduated in 2018 (photo)
Miss Henrotay's big toes are shorter than her other toes (pictured), a characteristic FOP symptom caused by a missing bone that led to her diagnosis
He had met another patient with FOP two years earlier and recognized the symptoms.
Miss Henrotay said: & # 39; He looked at the swelling and knew right away that he had to take my socks and look at my big toes. & # 39;
The large toes of Miss Henrotay are shorter than her other toes, a characteristic symptom of FOP caused by a missing bone.
She said: “I was diagnosed with FOP at five and a half, so I was lucky to have normal childhood.
& # 39; But at the same time I don't remember life without FOP, so I have all the memories of normal childhood but without remembering what it was like to function like that.
& # 39; If I had probably been diagnosed two years later, I would have had more memory without FOP, but I feel very happy that I still have that normal childhood, but I am also not angry that I not without can. & # 39;
Although Miss Henrotay needs help to do everything, brush her hair to put on her shoes, she is determined to be as independent as possible.
She has undergone surgery to remove her back teeth so that she is still able to eat by smearing food to the back of her mouth.
Miss Henrotay & # 39; s mother Lori, who is married to Paul, introduced herself, took Miss Henrotay to their regular doctor, Dr. Martin Schmidt, who had accidentally diagnosed FOP two weeks earlier
Miss Henrotay, pictured at home with her dogs, said: & My shoulders and neck are also locked, which prevents me from doing my hair or riding. And my hip is locked too, that's why I'm crippling or using other mobility aids, just because I can't walk that long & # 39;
The situation is so painful that Miss Henrotay said she is unable to estimate it to ten. Depicted with her family during a baseball game in 2018
Miss Henrotay, pictured with her dog at school, said she had a normal childhood but can't remember life before she had FOP. It is not clear how her dogs help her
She also took a flamingo-like position because she was standing upright because her position was straight than when both feet are on the group, because her closed hips cause her to bend slightly forward.
The pose allows her to talk to people without stretching her neck and she says she feels more balanced.
After diagnosis, instead of wrapping Miss Henrotay in fake foil, Lori and her husband Pete encouraged their daughter to lead as active a life as possible.
Miss Henrotay said: & instead of playing football with a competition, I might be able to gently kick the ball aside. We were always very good at educating my class and my friends.
& # 39; Although I was different, I was just like her, so I was always treated specially, so like in gym class when they ran down the mile, I would let a friend pull over and we would jump rope together. & # 39;
Miss Henrotay tried to see herself as special rather than unable, which allowed her to maintain a positive attitude.
The graduate said: & # 39; When I was seven, my jaw was locked, which was scary for my parents.
Miss Henrotay remains positive and said, "I'm absolutely sad about what FOP has taken out of my life, but it's not something I'm trying to invent." Pictured with her boyfriend, Billy Schmitt Jr., and boyfriend Lynn Fei
Miss Henrotay recently moved to her six-year-old friend, Billy Schmitt Jr., whom she met in high school. She tries to live independently, but needs help with basic things like brushing her hair or putting on her shoes
& # 39; I immediately adjusted and didn't really think differently, but I know my parents panicked because that isn't something that normally goes so young.
& # 39; I'm absolutely sad about what FOP has taken out of my life, but it's not something I'm trying to inhabit, because it's not something I can change.
& # 39; It is certainly disappointing that I cannot exercise or drive or do this, that or that other, but I always try to look on the positive side and remember what I have and am thankful for that. & # 39 ;
And recently Miss Henrotay moved with her six-year-old friend, Billy Schmitt Jr., whom she met in high school.
She said: I am excited to enter my new home and see where my independence can take me, but it is also a double-edged sword because I know it will hinder me.
& # 39; I want people to understand that disability is not the whole part of me, even if you can see it. You have to see more than the wheelchair and just see me as a person before you condemn me for the disability. & # 39;
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