The condition is known as Fibrodysplasia Ossificans Progressiva (FOP) or “Stone Man Syndrome”.
It affects an estimated 1 out of every 2 million people beginning when they are children, and
to date there is no cure.
The telltale sign of someone with this condition is a small big toe that is abnormally formed,
often pointing at an odd angle.
As the baby grows into a child, they typically will start developing very painful nodules
around their back, head, neck, and shoulders, generally triggered when the babies or children
fall or otherwise bump into something.
These nodules will eventually turn to bone, but because this condition is so rare, the
condition is misdiagnosed about 80% of the time.
Generally most doctor’s first think the nodules are cancerous and biopsies are usually
performed, as well as radiation treatment and other surgeries, such as the case with
Ashley Kurpiel, who was diagnosed with cancer and had her arm amputated at her shoulder
when she was just three years old, even though she really just had FOP.
Besides potential amputations when they weren’t necessary, these surgeries will make the condition
itself worse.
FOP flare-ups are triggered by trauma to muscles, even just tripping and falling as kids do
all the time, is sufficient to trigger a flare-up that will result in the development of bone
on their muscles and connective tissues.
In addition to muscle trauma, things like getting the common cold or flu can also cause
flare-ups.
Even if the condition is correctly diagnosed, there’s little that can be done to help
alleviate the problem as surgery is not an option and there is no cure, as noted.
As the person with FOP ages, slowly their ability to move is taken away from them, “entombing
a patient in a skeleton of heterotopic bone”.
“Even seemingly minor things like preschool immunizations, injections for dental work,
[or] minor bumps and bruises from falling off a bicycle, can cause these children to
lock up their jaw, lock up their joints that never move again,” says Dr. Fred Kaplan,
known as “Uncle Fred” within the FOP community, one of the few doctors who has dedicated his
life to finding a cure for FOP.
As he states, “My lifelong goal since I’ve started working on FOP is not just to modify
the symptoms but to change the course of the disease.
And eventually stop it.”
In the extreme case, such as Fop sufferer Henry Eastlack, they lose the ability to move
at all.
In his final days, shortly before his 40th birthday, Henry’s ability to “move”
was limited to moving his lips slightly, eyes, and tongue.
But even before this happens, the condition can become extremely debilitating, even life
threatening.
For instance, by the age of 17, Tiffany Linker from North Carolina, had to start wearing
an oxygen mask as extra bone developed around her rib cage, constricting her ability to
expand her lungs.
Tiffany was the first of now over 500 children and adults (of the known 700+ cases) Dr. Kaplan
has treated for FOP.
Tiffany had previously undergone numerous surgeries and chemotherapy for what doctors
suspected was a rare form of cancer.
Finally, when no treatment worked, Tiffany’s parents were told she’d be dead within two
weeks.
But, of course, she didn’t have cancer at all.
She had FOP.
Kaplan’s work with Tiffany and others helped inspire him to dedicate his life to the eradication
of this condition.
As he said, “I was watching a metamorphosis before my eyes.
I was seeing a normal child turn into a child who was imprisoned in a second skeleton — literally
imprisoned in this cage of bone.”
Of her condition, Tiffany stated in an interview in 2006,
A flare-up can happen overnight while you’re sleeping.
Like, you’ll be walking around one day, and you’ll go to bed and the next day you
won’t be able to move.
That’s how fast it works…
(As to how it feels to have FOP) I would say, let me tie your arms to your sides where you
can’t move them and then put a neck brace and a back brace where you won’t be able
to move and then stay in a wheelchair all the time, and then tell me how you feel.
Sadly, a few years after this interview, Tiffany lost the ability to walk, and on July 30,
2012 passed away at the age of just 23.
Many who suffer from FOP have to eventually make the decision as to whether to stay in
a wheel chair at all times as their condition worsens, so that they don’t end up being
locked in a straight bodied position.
There is finally some hope for people with FOP.
In 2006, Dr. Kaplan and his colleagues at the University of Pennsylvania School of Medicine
discovered the gene that causes FOP, specifically a mutation in the ACVR1/ALK2 gene.
Among other things, this gene helps control the development of bones and muscles, as well
as the gradual replacement of certain cartilage with bone as you age.
People with FOP have a mutation in one of the two copies of this gene in each cell (one
normal copy, one mutated copy).
This results in the body “repairing” damaged fibrous tissue with bone.
For those interested in the ultra-technical version of the cause, it is as follows:
A mutation in the gene ACVR1 is responsible for the disease.
ACVR1 encodes activin receptor type-1, a BMP type-1 receptor.
The mutation changes codon 206 from arginine to histidine in the ACVR1 protein.
This causes endothelial cells to transform to mesenchymal stem cells and then to bone.
This discovery is not only a big deal for the few who suffer from FOP, but also because
research into curing FOP may well end up helping those who suffer from osteoporosis, bone fractures,
and other such similar conditions.
While there is still no cure, this discovery has opened the door for possible cures or
treatments of FOP, such as one developed very recently by Dr. Josef Kaplan, Dr. Eileen Shore,
and Dr. Frederick Kaplan.
They engineered an RNA molecule such that it would “silence” the mutated ACVR1 gene,
while leaving properly working one in the cell alone.
When the treatment is complete, it would leave the non-mutated gene to work normally, thus
stopping the advancement of FOP.
While still a long way from a cure, this method at least provides some hope for FOP patients.
Further, clinical trials have very recently begun using the retinoic acid receptor gamma
palovarotene to inhibit this type of abnormal bone development.
In animal testing, at least, this latter treatment has shown some promise, with human trials
now underway.
Now normally I wouldn’t try to solicit donations to something on Today I Found Out, but because
the condition effects so few people, very little money is available for researching
FOP and finding cures, with a large percentage of the funds available for finding a cure
for FOP raised by family members of those with FOP (of which there are only about 700-ish
people diagnosed world-wide).
Further, there are only about 3 principle doctors + support staff like doctoral students
and the like working on finding
a cure.