In which I get philosophical and scientific

Posted by Karen - October 20th, 2013

Posted by Karen

OK, quick – name some diseases – GO.

Before I knew about Fibrodysplasia Ossificans Progressiva, I would have probably said measles, chicken pox, hepatitis, the plague, AIDS, mumps.  In other words, things caused by viruses or bacteria.  Something you don’t have, and then you “catch” due to contact with same.

And then came April 19, 2007, the day when I found out that my beloved (then) 2 year old daughter, Miranda, has FOP.  Among other very serious concerns, I spent a long time feeling that anyone who called FOP a “disease” was using a misnomer, and that it should be referred to as a “disorder”.  After all, FOP is not caused by contact with anything, but rather by genetics.

To be more specific, people with FOP have absolutely normal chromosomes, so FOP is not a chromosomal irregularity.  By way of background, a chromosome is an important bit located in a cell, and it is made up of the informational blueprint – called DNA – which an organism needs in order to exist and survive.  Chromosomes come in pairs, one chromosome coming from each of the organism’s parents, and humans typically have 23 such pairs.  Each chromosome contains thousands of regions described as “genes”, and each gene tells the body to produce a certain structure or substance in a certain way (really pretty amazing, when you think about it).  There are human conditions caused by chromosomal irregularity, such as an extra or missing chromosome or part of chromosome; Down’s Syndrome is probably the best known of these.  But again, when you look at the chromosomes of people with FOP, they look absolutely typical and unremarkable.

An artist's conception of DNA

An artist’s conception of DNA

The difference with FOP comes at the gene level, specifically, a gene called ACVR1/ALK-2.  A gene is made up of even tinier bits, referred to as bases, and there are 4 such bases which combine in many, many different ways to make up the gene.  A gene will contain dozens, or perhaps even hundreds of these bases.  In the ACVR1/ALK-2 gene, just one of those bases is switched with a different one, not the expected one.  The accidental switch happens, purely randomly, around the time of a baby’s conception.  Because of this one little base swap, one base among thousands upon thousands contained in one of 46 chromosomes, FOP is the result.

I googled "image of ACVR1 gene" and this came up.

I googled “image of ACVR1 gene” and this came up.

It seriously blows my mind that all of the effects of FOP – immune system changes, skeletal irregularities, and most worst of all, growth of a “second skeleton” – are caused by this one microscopically tiny DNA change.  And get this – there are many, many genes in which an error such as this one would have no detectable effect on the organism’s existence.  In fact, every person on earth has a whole bunch of these little changes in their DNA, the vast majority or which are either benign or irrelevant, a small few are harmful (like the FOP mutation) and a small few are helpful and useful (eg, the gene mutation thousands of years ago which allowed adults in some human populations to digest lactose).    Geez, for people with FOP, talk about unfair!  Why this stupid little base swap, and not another one in some meaningless locale??  Or better yet, an actually useful mutation?

But I’m kind of digressing here…  My point in this post is that I initially felt it was wrong to call FOP a “disease”, and that a better term for it is “disorder”.  You don’t catch FOP, you’re simply born with a single base switch on the ACVR1/ALK-2 gene.  What elevates this base switch from a nameless, unrecognized mutation like dozens or hundreds of others to the level of a disorder with a name, FOP, is the phenomenal damage caused by the base switch in question – ie, the effects of FOP.

Interestingly, a while ago we had a related discussion in the Rare Disease Foundation parent support group meeting which I attend.  We talked about the fact that some of the parents in our group initially thought that the RDF support group was not for them, because their child didn’t have a rare disease (again, think virus or bacterial cause), but instead a condition caused by chromosomal or genetic changes.   Apparently I’m not the only one who’s had this thought.

Anyway, I eventually did accept use of the term “disease”.  Why?  Well, if you break down that word, you get “dis”, meaning the opposite of a desired situation, and “ease”.  At the end of the day, FOP definitely interferes with EASE, hoo boy does it interfere.  Wikipedia also sums it up pretty well, saying that, “A disease is an abnormal condition that affects the body of an organism.”  Pretty straightforward, at the end of the day.

I still don’t love the term disease, and I think disorder fits the bill better.  But, I accept that it’s not wrong to say FOP is a disease, and sometimes I even use that term myself.

PS – And now, going from the highly scientific to concrete, daily life – here’s an update on Miranda’s right knee.  As I mentioned a couple of blogs ago, Miranda has no swelling, heat, firm tissue or pain in her right knee, but nevertheless, one day in early September, her knee simply stopped bending at more than a 90 degree angle.  As such, she can walk normally, but can’t kneel, and using stairs is awkward.  In the 5 or 6 weeks since I first noticed that, NOTHING at all has changed.  Which is so weird, I have never seen this kind of FOP flare-up before in Miranda.  I would think I was losing my mind, except that my friend Suzanne, who does this website with me, blogged last fall about how the same exact thing had happened to her daughter Erin’s knee (the one difference was that Erin did have some pain, and Miranda swears she has none).  Anyway, Suzanne told me that after about 2.5 months, this limitation suddenly went away, and an x-ray revealed that Erin had a tiny new bone growth on her knee, not significant enough to permanently effect movement…  I am very fervently hoping that the same thing will happen to Miranda, and that some time in late November she’ll be able to use her knee normally again.  All we can do is wait and see.

Miranda recently swinging at a park - her right leg is bent as far as it will go.

Miranda recently swinging at a park – her right leg is bent as far as it will go.

2 Responses to “In which I get philosophical and scientific”

  1. Suzanne Hollywood says:

    I love you blogs and updates…I can’t wait to meet you and Miranda in Florida:)

  2. Peter Licht says:

    Karen–
    I hope your wish is granted. Our son was diagnosed with FOP on his third birthday. He is now 19, attending college in California. He is positive, hopeful, self-confident (mostly) and a constant reminder of “grace under pressure”. You see, I have been “retired on disability” since 2008. Daniel is a constant reminder to me that I must look forward with positive thoughts and hope.
    I am sure that Miranda will grow and change and be a strong, loving person — no matter what happens to her leg’s movement.
    Contact me directly if you wish to talk/email about our children
    Best wishes–
    Peter



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