Yesterday, February 28, 2021, was Rare Disease Day! We celebrate on this day because the ‘rare’ Leap Day of February 29th only occurs once every four years. Everyone comes together on the last day of February to share their diagnosis stories, spread awareness, and show support for their incredible communities.
Alone we are rare,
Together we are strong.
There‘s somewhere between 6,000 and 7,000 known rare diseases in the world that affect 300 million people. 72% of these diseases are genetic and 70% begin in childhood.
I was born with a rare disease known as FOP but it wasn’t apparent until I was five years old. I was officially diagnosed a few months later, in January of 1999. This disease has largely shaped my life over the past two decades.
I’ve compiled the following list of facts and information about FOP in honor of Rare Disease Day.
1) FOP stands for Fibrodysplasia Ossificans Progressiva, a rare genetic disorder that causes new bone to form in skeletal muscle, tendons, and ligaments. This process gradually creates an immobilizing ‘second’ skeleton.
2) The most common signs of classic FOP can be seen at birth and early childhood:
• malformed big toes (shorter and/or turned inward, or an abnormal bump that looks like a bunion)
• shorter thumbs (only some cases, including mine)
• small bumps on the head and/or spine, and/or tumor-like swellings. (These swellings are actually the beginnings of flare-ups of new FOP bone growth.)
3) FOP is estimated to affect approximately 1 in 1.3 million people worldwide (originally thought to be 1 in 2 million, though the definite number is still unknown).
4) There are 900 or so known cases of FOP in the world, and around 300 diagnosed in the US. I’m one of two people in Connecticut. It’s a huge blessing in disguise to have this type of built-in support system and second family.
5) FOP flare-ups (new bone growth that forms over joints and muscles) can last days, weeks, or longer. The level of pain and mobility loss during this time varies with each person and each flare-up.
6) Flare-ups can be triggered by any trauma (including a fall or injury) or surgery, but can also happen spontaneously with little or no warning. People with FOP can wake up and notice significantly reduced mobility in a joint from an unexpected flare-up overnight.
7) The same rogue gene that causes FOP also causes the rare childhood brain cancer, DIPG (Diffuse Intrinsic Pontine Glioma). This shared gene is known as ACVR1; the connection between the two diseases remains a mystery.
8) If the extra FOP bone is surgically removed, new bone could grow back even more aggressively.
9) The majority of people with FOP have the classic type (like me) and only 5% have a variant. These individuals are sometimes diagnosed much later in life (30s or 40s) than those with classic FOP (childhood and young adulthood).
10) People with FOP aren’t able to get intramuscular injections without risking a flare-up of extra bone growth in that muscle or joint.
11) There are two FOP skeletons on display at the Mütter Museum in Philadelphia, Pennsylvania: Harry Eastlack (1933-1973) and Carol Orzel (1959-2018). Both of them lived at Inglis House, a skilled nursing facility in PA, though not at the same time (they never met in life).
12) The earliest description of a patient with FOP dates back to the 17th and 18th centuries.
Personal experience living with FOP:
- My first symptom of FOP was a stiff neck; it then progressed to my shoulders and back.
- The doctors that I saw prior to my diagnosis thought I had torticollis (abnormal neck positioning), ankylosing spondylitis, or Lyme disease.
- My malformed big toes (bunion-like bumps on the sides of my feet due to FOP) were present at birth, but my parents were told by the doctor that it was nothing to worry about.
- I’ve lost full mobility in my neck, shoulders, jaws, and most recently my hips, knees, ankles, and left elbow.
- My leg flare-ups started in February 2019 and lasted the majority of that year. Prior to 2019 I was able to move around independently, walk, hike, fly across the country on my own, and stay in a hotel by myself.
- As a result of these flare-ups I lost a lot of my independence, including the ability to walk, sit upright, and get in and out of bed. I now rely on daily caregivers.
- I’ve spoken publicly about my life with FOP in my home state of Connecticut, as well as Boston, Massachusetts; Nashville, Tennessee; and Anaheim, California. I’m passionate about sharing my story through writing, art, and public speaking.
Thank you for taking the time to read this post and learn more about life with FOP. Please feel free to share this information with anyone you know, especially if they’re in the medical field. I appreciate your support very much. Happy (extended) Rare Disease Day!
Read more at these links:
Rare Disease Day:
https://www.rarediseaseday.org/article/what-is-rare-disease-day
More about FOP:
https://www.ifopa.org/what_is_fop
https://tinsoldiers.org/about-fop/
History of FOP:
https://www.ifopa.org/history_of_fop
FOP and DIPG:
https://pubmed.ncbi.nlm.nih.gov/28780023
Carol Orzel and Harry Eastlack:
http://muttermuseum.org/news/new-exhibit-FOP
Bless your beautiful soul..
I learn a lot each time I read your posts, Jasmin. Thanks for sharing so eloquently your journey with FOP.
Well said John. Jasmine, I’m impressed with the thoroughness of your post. It informed me like nothing before of the burden you bare and the resilience you share. Thank you and blessings to your soul.
Bless you and your care-givers. Jasmine, you have posted and eloquent and moving statement about living with FOP – Wow! Thank you for sharing these thoughts with the community!