No more lab bench and lone candle, or, the latest in FOP research…

November 19th, 2016

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Back in 2007 when my daughter Miranda was 2 years old and had *just* been diagnosed with fibrodysplasia ossificans progressiva, we learned there was "a guy" researching FOP at the University of Pennsylvania. Considering how phenomenally rare FOP is, we assumed this must be a single scientist working on his own, with no support. My dad said he envisioned a doctor sitting at a lab bench, peering through a microscope to the light of a single candlestick. Kind of a Charles Dickens-esque, "Bob Crachit" type of situation, LOL. Fortunately, and to our great relief, this was incorrect. In fact, there ...

Life with FOP, age 11

November 13th, 2016

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When I first started doing this blog, my purpose was to talk about our everyday life in coping with fibrodysplasia ossificans progressiva (FOP). As time went by, though, my daughter got older and more concerned (understandably) about her privacy. As such, I turned more to talking about developments in the FOP community. I think however that every once in a while it can't hurt to talk about the challenges we face, especially if I'm careful to talk about things mainly from my perspective. And so, here are a bunch of the FOP related issues we've dealt with recently... The first thing ...

Something happened in Boston…

October 30th, 2016

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Just this week, an amazing event took place in Boston, USA. Yep, it was to do with fibrodysplasia ossificans progressiva (surprise surprise). As a board member of the International FOP Association (IFOPA), I could have attended, but I had a significant work conflict which couldn't be avoided. Then, just a few weeks beforehand, the conflict disappeared, but I found out that my long-awaited carpal tunnel release surgery was to be scheduled for a few days prior, and of course I would need recovery time. Long story short? I couldn't attend the FOP event - but wow, I so wish I ...

Clinical trial results are in!

October 16th, 2016

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On Friday, Clementia Pharmaceuticals sent out an exciting press release. This was MUCH anticipated in the fibrodysplasia ossificans progressiva community. The subject of the release was, TA DA, the results of the first ever post-gene-discovery-era clinical test of a drug for FOP! So here's the scoop... In 2014, Clementia  started a Phase 2 clinical test of palovarotene, which I will call "PV" for short (they were able to skip over Phase 1 - testing for toxicity using unaffected patients - because another pharma company had done Phase 1 while considering PV for a different disease). In simplest terms, PV has been ...

The reality of doctors and rare diseases

October 9th, 2016

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Doctors... We all need them, but when you're coping with a rare disease such as my daughter's, fibrodysplasia ossificans progressiva, the experience can be by turns incredibly great and extremely frustrating. Some doctors are rock solid and terrific, while others make you want to rip your hair out at the roots. There are no doctors in this photo, but... This was Miranda in San Francisco, where she was meeting with a really top notch physician. Let's start in the pre-diagnosis phase. So, you have a child, and the child has some strange, seemingly inexplicable medical symptoms. Chances are your child will be ...

The early days of an FOP diagnosis

October 2nd, 2016

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There's recently been a cluster of newly diagnosed people who've joined the FOP community; I learn of this when each has a family member added to a private FOP Facebook group to which I belong. Every time I see one of these newbies, which are almost always children, I'm taken back to when my family were in this situation, way back in 2007. Saying that this is a "hard time" is putting it in the mildest possible terms. There's ever so much to figure out - which, of course, got me thinking that this would be a good topic for ...

The genetics of FOP

September 17th, 2016

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I was recently in a bookstore and looking to spend a gift card when I stumbled on an interesting item, which I bought. Science nerd that I am, I've been finding this book absolutely fascinating. It's called "The Gene: An Intimate History", and it's by Siddhartha Mukherjee (no, I am not getting paid to say this, LOL). The book is all about the history of discoveries connected to the gene. One paragraph so far particularly stood out to me. In discussing the disease sickle cell anemia, Dr. Mukherjee had this to say: "It was a Rube Goldberg disease. A change in ...

Back to school, 2016 edition

September 11th, 2016

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Here we are in late summer, and it's "The MOST WONDERFUL TIME of the YEAR!" (to quote that ubiquitous September TV commercial, LOL). We did the lazy summer days thing, enjoyed a long Labour Day weekend, and then it was finally time for school. This is good, as far as I'm concerned, since my kids were definitely ready to go back. [caption id="attachment_3008" align="alignleft" width="600"] Summer fun (obligatory frappuccino in hand).[/caption] My daughter Miranda is 11 and started grade 6 this year. Though she won't admit it - or at least will qualify her answer in various different ways - my girl ...

Philosophy and FOP

August 21st, 2016

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A few weeks ago, someone made a strongly worded comment on one of my blog posts. In my post, I had mentioned about how much I hated fibrodysplasia ossificans progressiva. My commenter called me out on this, stating that she wondered how my daughter Miranda(now age 11) would adapt as she grows, knowing that I hate something which is a part of her. Ouch. I have to admit, this kind of knocked the wind out of me. And yet, the comment did get me thinking... Since then, I've been sort of turning this issue over and over in my mind at random ...

Summer challenges

August 14th, 2016

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Just a few days ago I was chatting with one of my neighbours. We got to talking about what our kids are doing this summer, and she told me about a summer day camp which her kids had attended. She thought this camp was great, and that I should consider it for Miranda next year. I didn't say much - just smiled politely. You see, getting summer camps sorted out for kids like my daughter, who has a disability, requires some effort. Because of Miranda's fibrodysplasia ossificans progressiva, I can't just register her for any old thing and then have her ...
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