Treatment vs. cure? We’ll take either…

Posted by Karen - May 3rd, 2015

As you may know, there is currently neither a cure nor a consistently effective treatment for my daughter Miranda’s disease, fibrodysplasia ossificans progressiva. Yeah, there’s Prednisone, but it’s very seriously “hit and miss” in terms of ability to eliminate a new flare-up – and in our experience it’s much more miss than hit… So really, we’d be delighted with ANYTHING that works.

I remember when Miranda was first diagnosed with FOP in 2007. Back then, I found it hard to conceive that there was pretty much nothing to be done except pain relief for FOP. How could that possibly be? Sadly, that’s how it was, and FOP raged and screamed, unimpeded, up and down my toddler’s spine, shoulders and upper arms for more than a year before finally calming down (temporarily).

This is Miranda JUST before her movement started to be limited...  Due to FOP bone in her shoulders and elbows, there's no way she could move arms now the way she did in this photo.

This is Miranda JUST before her movement started to be limited… Due to FOP bone in her shoulders and elbows, there’s no way she could move arms now the way she did in this photo.

Of course, the holy grail would be a cure. But, FOP is a genetic condition, so a cure is a very tall order. What it would take is gene therapy in which the non-FOP gene is introduced into the body in such a way that it takes over and replaces the FOP gene in all the body’s cells. Scientists have figured out how to do this in an individual FOP cell in the lab, but they’re a long ways off (so I understand) from being able to cure the disorder in a whole living person. Still, just this week I stumbled on a report of another genetic disorder which had, apparently, recently been successfully cured in 6 people by a novel form of gene therapy which had been engineered to be safe and effective. The author of the (admittedly somewhat sensational) report of the experiment enthused that the technique could possibly be used for all kinds of genetic diseases. FOP wasn’t specifically mentioned, but that’s naturally where my mind went.. Who knows, if this new gene therapy technique is as good as they say, maybe in several years this will be the key to stopping FOP’s horrific effects forever. That would be unbelievably sweet. However, it doesn’t do to get too cocky about these kinds of stories… Something could yet very easily derail that train, or it may work only for certain types of disorders, or whatever.

The thing which seems a lot more likely is that within the next several years, we’ll get a medicine which treats FOP flare-ups. In fact, such a drug – Palovarotene – is actually being tested right now in real live human beings. If Palovarotene is as successful in people as it’s hoped/expected to be, it will take a new FOP flare-up, “short-circuit” its inflammatory process and slam it to a halt before any new bone can be formed. People with FOP could then be assured that for the rest of their lives, the drug would eliminate new flare-ups. That sounds really just absolutely fab to me! Of course, the medicine wouldn’t eliminate existing FOP bone, but presumably a person could have surgery to remove some of that old bone, take the drug and then do physical therapy to regain function in the previously limited area.

Sometimes Miranda and I chit-chat about which FOP bones she’d get rid of if it was safe to do so (right now, with no available treatment, the trauma of bone-removal surgery generally causes FOP to go into overdrive and produce a bunch of new bone, thereby making the whole thing pointless). What’s first in Miranda’s book? It’s that oh-so-frustrating bit of bone in her left lower calf, the one which shortened up her calf muscle and now prevents her from putting her left foot flat on the floor. I have to agree, that would be a really good one to get rid of, because it interferes significantly with walking. However, a very close second on my list would be some of that bone around Miranda’s shoulders, especially the left shoulder. If she could get even partial movement back in her shoulders, it would give her A LOT more functional use of her arms, not to mention much easier access to her armpits for hygiene purposes. Finally, eliminating some of the bumps on M’s back would save her from a lot of end-of-day achiness which she currently experiences.

Miranda, 2014

Miranda, 2014. See that left foot? It can’t stand flat.

Right now these are nothing but lovely daydreams. However, maybe before too too long, it will be a reality.

Coming soon to this blog – a donation link to our annual FOP fundraiser, the Walk for FOP, which we’ll be holding in Calgary, Alberta on the first weekend in August. If we want that treatment for FOP, we’ve got to keep at it with the fundraising…

Miranda, who deserves a treatment for FOP.

Miranda, who deserves a treatment for FOP.

PS – If you are age 15 or over, have FOP and have a new flare-up on an arm, leg, hip or shoulder, you may be eligible to take part in Clementia Pharmaceuticals’s current Phase 2 testing of Palovarotene. It involves some short-term travel to a testing side in Paris, France or San Francisco or Philadelphia, USA, but all your travel costs are covered by Clementia (even if you have special travel needs due to FOP limitations). For more information on how to participate, click on this link:

One Response to “Treatment vs. cure? We’ll take either…”

  1. Elsa Johanna Wallace says:

    wonderful write-up Karen. Uplifting really.

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