Although every year has a Rare Disease Day (or every year since its inception in 2008), 2016 was a notable Rare Disease Day for the FOP community, and especially for the Canadian FOP Community.

February 29, 2016, Clementia Pharmeceuticals announced the completion of its phase 2 clinical trial (if you didn’t know this, here’s the press release) and the Ontario government actually raised awareness of Rare Disease Day in its parliament session, tabling a motion to officially recognize the last day of February as Ontario Rare Disease Day.
Thanks to CFOPN’s partnership with CORD, and the fact that I’m of age and live in Toronto, I went to Queen’s Park on Rare Disease Day to watch parliament and attend a luncheon CORD hosted for the MPPs.

I should warn you, just in case you ever get invited to go to parliament: Queen’s Park is not very accessible. There is a wheelchair-accessible entrance on the south side, but if you’re going to witness a parliament session, the members’ gallery (that’s the first floor) is up a flight of stairs and the seating on the fourth floor is up a steep flight of stairs then down a steep flight of stairs. After taking me to the first and fourth floors, they took me to the pretty empty third floor, which happened to be much less treacherous. Why they didn’t have this better planned out considering the nature of the visit, I’ll never know. It worked out, though. (As we were going back and forth in the elevator, one of my guides apologized for the confusion and constant moving and I laughed and said, “Actually, this is pretty standard for my life.”)
After the parliament session the Canadian Organization for Rare Disorders (CORD) hosted a lunch for the parliament members. Mid-lunch, Health Minister Dr. Eric Hoskins gave a speech detailing Ontario’s current plan to create a coordinated provincial healthcare system in order to increase progress and access for people living with rare diseases, based on the working group created for Ehlers Danlos Syndrome. He was very willing to admit, though, that “There’s a lot of work to be done.”

(Breaking news this morning says parliament couldn’t agree on a system to use to create a rare disease strategy, with the Conservatives criticizing the working group concept as “behind closed doors” and Liberals striking down a Conservative motion to create an all-party committee. It’s nice to see they’re in no rush to amend our faulty rare disease laws. What’s the hurry? People with rare diseases live long, full lives. No, wait…)

Later on, right next to me, this reporter remarked to his cameraman that he wanted to talk to people with rare diseases but wasn’t sure who they were. I decided to be nice and said hi. He asked if he could ask me a few things and I said, “Why do you think I introduced myself?” He then asked me some questions and took a few quotes from me. It was fun watching him try to guess-spell Fibrodysplasia Ossificans Progressiva.  

I would like to say that our presence made a real impact and impressed upon the politicians the need for a rare disease strategy, but the reality is that the concept needs to be developed in such a way that no politician can squawk about how a different plan is the better option and we should just go back to the drawing board...which is depressing for so many reasons. And again my mind goes here:

​
​Ottawa cohort, you're up. Go convince the federal government that rare diseases are so important the federal government should force the provincial government to stand up. Show them pictures of sick babies crying while holding kittens or convince them the only way to stave off an interdimensional alien attack is to properly treat rare diseases.

​(I am only partially kidding.)

A lot of Canadians would boast about our healthcare system. Heck, we voted Tommy Douglas in as the Greatest Canadian a handful of years back. However, if you happen to have a rare disease (and I’m assuming most of the people reading this at least have some connection to the rare disease community), the system…well, let’s just say it’d prefer to pretend you didn’t exist. And before you shrug off this behaviour by saying it’s common practice in the world, note that Canada is the only developed country without a rare disease strategy in place. In fact, many developing countries have better rare disease strategies. Let that sink it for a moment.

This is incredibly disturbing when you consider how many people in Canada have a rare disease. Approximately 1 in 12 people have a rare disorder, which means around 3 million Canadians are being told to grin and bear it…while our tax dollars are being sent to a system that fully supports the treatment of other diseases. (Yes, I know there’s sometimes a waitlist, but in comparison that is nothing to complain about.) 

However (and luckily), we have the Canadian Organization of Rare Disorders (CORD). Thanks to this organization, people with rare diseases can mobilize together in the quest for more equal treatment.

On November 19 and 20, 2015, CORD hosted the Expert Patient Advocates & 21st Century Therapies Forum, a conference designed to teach members of the Canadian rare disease community about the healthcare system and their role in ensuring said system doesn’t continue to overlook rare diseases. Over the two-day forum, attendees were given a crash course on drug development, regulatory guidelines, treatment access and patient submissions. (Given the amount and the subject of the content, I’m pretty sure they’d have made a killing if they’d had a cash bar open at the end of the day.)

As there was a lot of important information and it would take me a really long time to craft the perfect transitioning sentences, we’re just going to lay out the data in bullets.

•    Canada needs (and is working on) a rare disease registry, which would list rare diseases found in Canada, their symptoms and etc. This registry would be a huge asset for doctors and researchers when they are looking for patients and evidence, which is important as Canada is pretty far behind in terms of drug development (excluding the lovely Clementia, of course) and needs to bring the research and researchers here. 

•    Health Technology Assessment (HTA): This is the system that looks at the benefits and risks of new drugs and treatments in order to determine whether it is worth offering them to Canadians. One of the major problems facing rare diseases in Canada is the fact that there is one standard assessment set in place for ALL diseases, even though other diseases have treatments that are meant to attack the symptoms while rare diseases need gene therapy. Also, because of the high cost of the rare drugs, the HTA is less likely to take a chance on (or recommend) them.

•    Then, once the drug or treatment has been approved by the HTA, it is up to each province/drug plan to decide whether or not they are going to pay for the drug, under advisement from the Common Drug Review (CDR) run by the Canadian Agency for Drugs and Technologies in Health (CADTH). The CDR looks at things like how does the new drug compare with alternative (i.e. pre-existing) treatments? Note that CDR says the drugs/treatment have to cost less than treatment in a hospital would, and it can take two to three years to actually get reimbursed for the drug fees. Now, if you’re thinking, “That’s okay, I have company health insurance, and that will pay for it,” a lot of employers are removing biologic drugs from the list of things they’ll cover in their drug plans. If you find yourself in this situation, try to stress the importance of the drug to your quality of life—fewer absences, able to work longer, etc.—in order to convince them that the benefits outweigh the costs and they should agree to pay.

•    To be slightly less depressing, I suppose a small glimmer of hope is the fact that Patient Evidence Submissions are (becoming) a very important part of the CDR, which is important considering most rare diseases can’t get the large amount of data major diseases can to include in their proposals. (Compare the number of patients in the Palovarotene trial to any AIDS drug trial.) However, these Patient Submissions need to be done carefully. Any quality of life findings have to match the results of the drug or the Canadian Expert Drug Advisory Committee (CDEC) will reject it. These submissions are made by the patient group (which in our case is CFOPN) and should start being collected around six months before the proposal to CDR is made. If you are wondering what these submissions are, you can find them online here. 

•    I had a lovely lady explain the dangers of National Pharmacare to me (well, me and a few other people). Because it’s a system designed for “everyone”, it will (once again) blatantly ignore the rare. After all, if you only have a certain amount of money to spread around an entire populace, why would you agree to pay an obscene amount for a handful of people? Even now, despite the fact that 1 in 12 Canadians have a rare disease, rare disease funding is at around 1% of overall drug costs/coverage, so you can imagine how much access we’d get in a system that’s designed to meet “everyone’s” needs.

•    One of the most important things you will learn today is the existence of the Special (Early) Access Program. This is a system set up so people can (try to) get access to drugs that haven’t made it through the long regulation process in Canada. So once/if Palovarotene is approved everywhere but Canada (which I’m pretty much expecting is what will happen), your doctor can put in a request to get you access to the drug. Obviously it’s not a guarantee, but it is a chance to get the drug when you need it, as opposed to when the government graciously allows you to have access to it…50 years from now.

Does your head hurt yet? This is actually a very condensed version of my notes. But it is the important stuff. Here’s the most important point:

•    One of the major themes running through the event was how important advocacy was and is. The fact of the matter is that over 3 million Canadians have a rare disease. Add in their friends and family and, well, that’s a lot of noise we can make if we band together. On their website CORD has a template letter to send to your MP, strongly suggesting that the government set up a federal orphan drug regulatory framework. Get everyone you know to send it to their MP. (Note: If you copy and paste, just make sure you correct the misspelling of Canadians in the last paragraph.)

Okay. You've made it to the end. Now get ready, because the fight is far from over. In fact, it’s barely started. Let’s make noise and ensure that when we get the FOP treatment we so desperately need, it’s not kept out of our grasp by bureaucracy. 
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Allons-y!



 



 
 



 

Recently, a video went viral on social media. You probably saw it: Some dude at McDonald’s stopped working so he could help a disabled man cut and eat his food. The normies (you know, those boring people whose lives are untouched by disability and see it as a dark shadow that covers a far-away land) went “awwwww…” and started screeching about how inspiring the whole thing was.

I find myself wondering about the encounter. Was it help, or was it “help”?*

The fact of the matter is this: if you are disabled (or old)—and I think this is especially true if you are little and adorable and disabled—people will rush to your aid, whether you need it or not. They will overreact in their attempts to prove they're "good people" and very often you will just give up and accept the “help,” even though the encounter leaves you exasperated and their assistance just makes everything more difficult.

One example: there have been times when I let people bag my groceries, then had to stop mid-way home to re-pack everything, as the weight distribution made it all very difficult to carry. And who puts heavy cans on top of tiny tomatoes?

Then there are the complications that can arise if you accept a stranger’s assistance. Once I asked a man to get something down for me at the grocery store. He (and his wife) then trailed me for the rest of my journey in the grocery store, just in case I needed more help. It was creepy.

It’s a strange line to figure out: You sometimes do need people’s help for various things, as do other people with special needs, and you want them to feel comfortable providing assistance to you (and others who might need it at other points further down the road), but how easy/polite is it to turn them down? Often people are very insistent and don’t believe you when you tell them you’re fine. And it’s not like you can swear at them, because they’re trying to be helpful, don'tcha know. (Sometimes I feel like telling these people, “Look, just to warn you, I can’t get you bonus points with God. I blaspheme on pretty much a daily basis.”)

I worry that this viral video is going to make people even more “helpful,” only now they’re going to start filming it. “Look as I run ahead to open the door for the little crippled girl…but ignore the fact that I nearly trip her to get there first.” “Look how great I am, offering to drive her home in my car. Strange how she doesn’t seem to want to accept my help.” YouTube is going to be inundated with videos of the normies doing minor acts of kindness and expecting major kudos because they did something good for the poor and downtrodden crippled people...who really only needed your help because the system is set up to benefit the normie body type.

Let it be known now, strangers who will never read this: You do NOT have my permission to film me. Nor do you have permission to film my friends and family, who have been well trained to ignore me unless I actually ask for help. (They’re not being jerks by just standing there…they just know I know what I’m doing.)
 
 
*I mean, was this man actually unable to feed himself? If so, why did he go alone to a fast food restaurant? And how does he eat every other meal if he can’t use utensils? SO MANY QUESTIONS.

Today is FOP Awareness Day. If you’re reading this, I’m assuming you already knew this. If you didn’t, how weird is it that you stumbled across this page today? I’m getting shivers.

Naturally, most people are unaware of this, as most people are unaware of the existence of FOP. I could say it’s because they’re horrible, self-absorbed people, but we all know that’s not true. There’s uncommon, there’s rare, then about 50 levels below that sits FOP.

What does this mean? If you have FOP, chances are astronomical that at some point you will have to explain the disease to a confused person. (Though I hope with all of my might you never have to explain (and spell) it to an entire emergency room after you’ve cracked your forehead open. That is not a super fun experience.) These people could be anyone: doctors, teachers, classmates, family friends, complete strangers who see you walking around your neighbourhood… In fact, meeting someone who actually knows what it is is almost like finding a needle in a haystack.

Generally, my explanation of the disease depends on the audience. I can’t imagine any doctors will ever hear me use the phrase “evil blood cells” (which, if you’re curious, are white, wear army hats and say “hchhhhh”).  You can be and probably should be very serious and scary with doctors, while it’s always good to use some form of humour with friends. As for the random strangers, that tends to depend on how weird they are and how quickly I want out of the conversation.

When it comes to doctors, they tend to have (what I call) the Pavlov reaction. If you’re unaware of the Pavlov experiments, he would ring a bell and give the dogs food. Eventually, whenever the dogs would hear a bell, they’d start to drool. Doctors, when presented with an FOP patient, get a look in their eyes like they’re Pavlov’s dogs and someone just rang a bell.  

I am not super fond of this phenomenon.

I suppose, however, it’s a good thing that doctors are so very interested once they’re introduced to the disease. If FOP wasn’t so bizarrely fascinating, maybe we would be one of the countless orphan diseases that are true orphans, with no one looking into the disease.

When it comes to friends, the explanation depends on the age and the closeness. Though I was supposedly teaching classmates how to say Fibrodysplasia Ossificans Progressiva in the playground in grade 2 (I don’t know, maybe we were bored of tag?) I’m guessing my explanation didn’t go much further than the really long name. At that age I’m pretty sure I couldn’t really grasp what the disease is…which is good, because no child should have to carry that terrible knowledge around.

Later high school was when the humour mechanism kicked in. Think about it: You don’t want your friends to pity you. And if you can make the disease sound weirdly funny, it becomes just one of your amusing character traits. I created the aforementioned blood cells and turned myself into an X-Men character (I could produce a lot of bone and my threatening call to my enemies was, “Be careful! I could fall asleep at any minute!”…because I have a really loud snore).

Close friends get told more, of course. Although the serious stuff is still mixed with the humourous anecdotes. So everyone’s sad, then we laugh, then we go get junk food. Life carries on.

Strangers are probably the hardest one. How much do you let these random people know? It depends on the situation obviously. I explained a lot more to the people at the speed dating/FOP fundraiser than the randoms who have stopped me outside and asked me what disease I have. Still, a basic knowledge of the disease is a good thing to give people. It’s important to learn just how strange the human body is or can be. The really long name they’re totally not going to remember and a description of what’s happening are generally what they’re looking for.

And of course there are strangers who should be promptly ignored. People who are rude and gawk and say (profanity alert) “What the fuck’s wrong with you?” don’t deserve to know what FOP is. Walk away and leave them to wonder until they learn some manners.

Now that you know these levels, go forth and test them out. And if you really are someone who accidentally stumbled across this page and have no idea what FOP is, go here before you start telling people what you know.

Sadly, this day doesn’t feature an eccentric character who brings us presents, nor does it con us into buying and eating a bunch of chocolate. (Full disclaimer: I will more than likely eat chocolate today, but that’s got nothing to do with the specific nature of the day.)

Instead, Rare Disease Day is a way for all of those people who are dealing with rare diseases--and yes, I do mean all of those people… millions of people across the globe are suffering from a rare disease--to stand up and make their presence known.

If you have never really paid attention to rare diseases, fret not. You’re (probably) not a terrible person. We just happen to live in an Orwellian-esque world where major diseases (and causes) spend fortunes to make us believe that they are the ones who truly need and deserve all of your attention and donations. Just make the cheque out to Eurasia and ignore the niggling voice in your head that’s thinking about all the other deserving causes out there. 

However, this tunnel vision means that so many causes face an incredibly steep uphill battle. For some people, NO ONE is investigating their disease and there is therefore very little chance of a treatment being discovered. (Around 50% of rare diseases have no foundation supporting or researching their condition and 95% of rare diseases have no FDA approved treatment.)

Then, if you are lucky enough to have a team looking at your condition, they could be constantly at risk of shutting down because of lack of funding.  FOP is (relatively) lucky in that we have a team of very dedicated doctors. Even so, every year we struggle to keep the whole team funded to ensure the research continues. When it comes to how these funds are amassed, most of the money raised to keep it all going comes from individual/family fundraisers. (Think of that the next time a major disease—I won’t name names but you know whom I’m referencing— cries about how they need your money to keep research going, even though they’re already getting billions of dollars from various government agencies and their marketing budget is larger than the entire budget allocated to most other diseases.)  

And if by some miracle you get a drug, the costs involved in managing your treatment will be exponential (that is, if your government even allows you to access the drug).

Do you know what this means? If you have a rare disease, on top of dealing with a horrid disorder that is making your life much more trying, you have to deal with this added weight that comes from the simple fact that your life isn’t considered as worthy because your disease isn’t, well, popular. Now sit back and be quiet and let the cool diseases get all the attention.     

So here’s my final message to anyone reading this: Do you sit at home, wondering how you can make a serious difference in this world? Look in your wallet (or look under your couch cushions), then donate what you find to a rare disease. That money will seriously help an underfunded condition and give a little bit of hope to people who desperately need it.  

And in case you don’t feel like trusting a random person on the internet, here are some follow-up sites:

http://www.orpha.net/national/CA-EN/index/homepage/

http://www.rarediseasefoundation.org/

http://care4rare.ca/

Greetings!

My name is Marin (Karen with an M, if you were puzzling over the pronunciation) and I was diagnosed with FOP when I was 3 ½.

‘Twas 1985 when FOP started making its presence known in my little body. Naturally my mother freaked out, dragged me to the hospital and begged the doctors for answers. I then took every ounce of luck I was ever going to get and wasted it on a doctor named Joseph Jacobs. (The man was brilliant. Seriously, it would not have surprised me in the least to find out that he was the basis for the TV character House.) All the other doctors voiced their incorrect theories and he came forward and said (this is obviously so very paraphrased) “You guys are all idiots. It’s FOP.”

I am a big believer in the idea(s) that anything is manageable as long as you can laugh at it and that you have to make your life as amazing as it is terrible. (We’ll go into that concept in a future blog post.) What this means is my life is full of crazy stories and black humour…which is ideal for a blog! This blog will differ slightly from my personal blog (which I primarily use to find my keys or shoes) but if you’re looking to read stories and advice re: surviving life as a medical freakshow, read on.