The diagnosis came after eight years of incorrect treatment and came as a shock: Asia suffered from an ultra-rare genetic disease. Her muscles gradually turned into bones, and each trauma - which happens very often in children - led to episodes of exacerbation of the disease. Today, Joanna, an adult, is struggling with many difficulties, but many of us could envy her optimism.
You are one of the 26 people in Poland who live with FOP. There are less than 1000 of them in the world. What is this disease?
Progressive ossifying myositis (Fibrodysplasia Ossificans Progressiva). FOP for short, and it is this acronym that is most often used to identify this disease. FOP is an ultra-rare genetic disease, one in two million is born with it. It causes severe disability and consists in progressive heterotopic ossification, i.e. abnormal transformations of muscles, ligaments and tendons into bone tissue. Ossification can occur spontaneously or as a result of an episode of exacerbation of the disease, usually caused by a soft tissue injury.
As the disease progresses, extra-skeletal bone tissue increasingly restricts joint mobility, causing severe diminution in performance and mobility. It is also associated with impaired respiratory function and an increased risk of premature death. FOP is caused by a mutation in the ACVR1 gene, which leads to abnormal activation of bone morphogenesis pathways.
In FOP, the eye does not turn into a kidney, but the heart turns into a lung. No organ becomes different. FOP causes what appears to be unnatural - it causes a muscle to turn into bone. I know, it's hard to believe, but such a transformation exists.
What parts of the body does he attack?
FOP attacks the neck, spine, chest, shoulders, elbows, wrists, hips, knees, ankles, jaw and many other places. Ossification progresses according to a specific pattern. Usually, extra bone appears around the neck, spine, and shoulders first, and then appears in the elbows, hips, and knees. For me it started in a non-standard way, because the left knee was immobilized. The disease bypasses the diaphragm muscles, tongue, eyes, face and heart.
How does FOPrestricts mobility?
In a he althy person, joints, such as the knees and elbows, bind bones together and enable movement. In FOP, the ligaments that cover the joints, as well as the muscles and tendons necessary for joint movement, turn into additional bone tissue. As a result, traffic in the areas affected by FOP becomes difficult or impossible.
When did it turn out that you were sick?
After birth, I was diagnosed with valgus of my big toes, then no one had linked this fact as an early symptom of an ultra-rare disease. The midwife told my mother that if she massaged these fingers, they would straighten over time. However, they did not straighten up …
The disease revealed itself with all its power at the end of the third year of life - while learning to ride a bicycle, I fell off it and suffered an injury to my left knee. A few days after this event, I was vomiting, I had a low-grade fever, swelling of the left leg appeared. Within a week, the leg in the knee was immobilized.
What about the moment of diagnosis? How was it possible to determine what you are ill with?
Nobody was able to correctly diagnose me. I had three operations aimed at, among others, Removing the extra bones that blocked my left knee, but after each such surgery those extra bones grew back and there were even more… It was only after eight years of mistaken treatment that I was found to have FOP. I was diagnosed with her on the basis of an interview, clinical picture, radiographs and additional tests. I received the diagnosis, but no one told me how to proceed with the disease. I was left to myself.
Has your life changed after the diagnosis?
There was practically no difference. I only knew about FOP what the disease was doing to my body - I felt that my movements were more and more limited, I couldn't put on a hat, for example, because my hands only reached the height of my eyes, I had difficulty putting on my shoes because I couldn't get low enough bend down, I felt pain while running because my left knee was stiff. At that time, I didn't understand why my body was becoming a living statue. I lived a normal life - as a child I jumped from a swing, glided in the snow, played football - nobody told me it was dangerous for me.
I went to public kindergarten and public school. When I started having more and more problems with walking, I switched to individual teaching. Teachers used to come to my house. Due to the fact that I did not have any guidelines for FOP, I did not know that to minimize the effects of the disease I had toavoid injuries such as impacts, falls, cuts. I played with other children, and the advantage of this ignorance was that I made nice friends through play. The downside was that FOP developed faster due to the trauma during these childhood madness.
When did you realize the limitations of the disease?
It was when I took my bike outside - the same one I fell from earlier - to surprise my parents and show them that I can ride it. I was eight years old then, after many years of treatment in various hospitals, and I naively thought that if I got on this bike, my knee would bend wonderfully. However, this did not happen.
What are FOP Flashes? Are they painful?
A flash occurs when the body begins to form new bone. It is not known what initiates this process, but once it begins, it leads to tissue swelling and considerable discomfort. Sometimes I feel unwell and have a mild fever. A single flare-up can last as long as 6-8 weeks, and more than one flare-up can occur during the acute phase of FOP.
In a flash, joint stiffness can appear overnight. Stiffness is caused by swelling and pressure in the muscle during the earliest stages of new bone formation. The flashes are usually painful, but the intensity of the pain can vary. I have glimpses where the pain level is 10/10 and I can bite the walls during this time as long as the pain stops. The pain subsides after the flare ends. It is caused not so much by the additional bone itself as the process of its formation.
Can the extra bone be removed?
No, the bone tissue will then renew and limit your mobility even more. Surgical intervention often makes the situation worse. The operation seems to be a logical solution - something has grown, you have to remove it and that's it. However, the effect of doing so is that the disease is even more aggressive. This is a vicious circle.
In childhood, almost all of us have some plans and dreams for the future profession. What dreams did you have?
My childhood consists of hospitals interwoven with passes at home. I didn't think at the time what I wanted to be when I grew up. My only dream was to recover.
What are your days like? Do you encounter any problems related to everyday functioning?
One of the basics of life is movement. FOP this movement takes it, turns my body into a prison and turns my life upside down. I used to be able to walk up the stairs on my own, now you have totake me down these stairs. Earlier I put on pants myself, now someone has to put them on for me. Once I could take a glass of water myself, now the other person has to hold this glass of water for me to drink.
My hands, spine, hips and legs are immobilized. I am not able to perform the basic activities of everyday life on my own. My relatives help me in my functioning. My priority now is to purchase an electric trolley tailored to my needs. Such a cart is expensive. I have been collecting money to buy a pram for almost a year. I am a beneficiary of the Avalon Foundation. You can help me make this dream come true by making a donation or by giving one percent of the tax. I want to be as independent as I can. This stroller will enable me to move independently, it will give me freedom.
How do strangers react to the news about your illness?
Varies. Some people goggle their eyes and open their mouths wide, others are afraid to touch me so as not to hurt me … There are also people who do not see me only as a disease but as a human being - this reaction is the best. I am human like all of us. I have passions, make my dreams come true and feel the need to be a full-fledged part of society.
What do you enjoy?
I can enjoy small things. I appreciate what I have. Happiness is easy. Some time ago, I had this situation: when I was waiting for the elevator in the hotel, a gentleman with a hotel towel trolley was waiting for the elevator next to me. I said to him: - Oh! Me too with a stroller. The Lord smiled. I like to make people happy.
I have a distance to my disability and I can make fun of it. Despite all these physical difficulties, I have a lot of optimism, faith and gratitude - I appreciate what I have. They say that I am a specialist in complicated matters. My motto: in a hopeless situation, the way out is in a situation. I am creative, ambitious and persistent.
Does the disease allow you to work?
There is a paradox here - in early adulthood, when my body was more efficient, I hid from the world, I could not explain my movement limitations to myself and others, I had a low self-esteem. I didn't like myself. I needed a lot of time to come to terms with the thought that I had such a debilitating disease, to accept my body, to find meaning in my life. Currently, I am fulfilled by activities for people with disabilities, especially people with FOP. I also run a blog on Facebook - "Two skeletons in one body."
You wrote on the blog that you would like to introducein Poland, screening of newborns for FOP. Does this mean that it can already be diagnosed in such young children?
FOP is a genetic disease. Babies with FOP appear to be physically he althy at birth, with the exception of the characteristic malformations of the big toes, which are shorter and sometimes bent inward. Although poorly developed toes are not a major problem, they are an important early symptom of FOP before the onset of multi-site ossification. The story of a 17-month-old girl with suspected FOP, whom I described on my blog, who underwent two operations and a half years of chemotherapy, shows that the diagnosis of FOP in Poland looks bad.
The disease is almost completely unknown in Poland. The girl has slanted fingers. The treatment she received worsened her he alth. I want to change that by introducing screening for FOP. Such screening tests could prevent unnecessary suffering, shorten diagnosis time and prevent misdiagnosis. Importantly, these newborn screening tests are cheap, and actually cost nothing. So little is needed to prevent this 17-month-old girl from happening again.
And how is FOP treated? Is it even possible today?
During an exacerbation of the disease, symptomatic treatment is used to reduce the inflammation that accompanies the formation of additional bones - by reducing inflammation with currently available drugs, it is possible to reduce the development of bone formation to some extent. The basic set for this period is prednisone plus potassium.
In early 2022, the Canadian government agency, He alth Canada, approved the first recognized drug for FOP. I've been waiting for this information for over 30 years since my first additional bone appeared. I believe that when the drug enters the European market, there will be less pain in my life. An effective FOP drug is my most important dream. I don't know the price of this drug yet. The cost is negligible. It is important that the drug is there, because money can be obtained, and the ravages of FOP often cannot be undone.
Do you have contact with other people who live in Poland with the same disease as you?
There is a closed group on Facebook for people with FOP and their relatives. We are together because we know what FOP is. We know we can count on each other. We support each other in difficult times. We create the FOP family.
Joanna writes about her illness on Facebook - Two skeletons in one body
Read other articles from the series I live with …
- I live with Hashimoto: "Doctors told me to eat1000 kcal per day "
- I live with a disability. "He only received a certificate for a year, because no one believed that he would survive"
- I live with Crohn's disease: "I heard that from now on my life will change a lot"
- I live with a disability. "I don't expect Gabryś to be a genius"
- I live with Roberts' syndrome: "Doctors did not give her a chance to survive, we were supposed to take blood from a dead child"
- I live with bipolar disorder. Mika Urbaniak: alcohol was my escape, it drowned out my emotions
- I live with drug-resistant depression: "Being on drugs, I still couldn't cope with my life"
- I live with multiple sclerosis. "It's not about sitting down and crying"
- I live with a stoma. Agata's story: I lived for 26 years with an inactive intestine without a diagnosis
- I live with schizophrenia: "I heard: they should close them"
- From the series "I live with": "The moment of breakdown comes when the treatment ends"
- I live with Möbius disease and more. Julia can't smile, squint or frown