What I saw before I knew

Posted by Karen - January 20th, 2013

Posted by Karen

The almost failsafe way to recognize Fibrodysplasia Ossificans Progressiva before it’s diagnosed is the combination of “tumours and toes” – bumps on the body which look like they might be tumours, and malformed big toes.  If those two symptoms occur together, you can be pretty darn sure of FOP.

In most kids, though, those telltale bumps don’t start right from birth.  In about 50% of children, they begin before age 5, and in the remaining 50%, it can be any time between age 6 and 18.  So, for the average girl or boy with FOP, there are some years before “tumours and toes” are evident together.  In those early days, strange looking big toes (usually smaller than average, stiff, accompanied by a bunion at the joint and often bent inward) are the only obvious sign of FOP.  The child seems otherwise normal.

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.

There are, however, a few other subtle skeletal differences in someone with FOP other than the big toes.  And you know what?  When I found out about these differences, I was interested to realize that before Miranda was diagnosed, I had recognized most of them.  I just had no idea what they meant.  Mostly I assumed they were variations of normal.

The first thing I noticed was on the day or two after Miranda was born.  I was gazing at my beautiful baby in that typical  newborn-and-mom rapture, and I noticed that her face and forehead seemed narrower than my son’s had been when he was that age (he’s 3 years older than Miranda).  I was a little bit surprised, because I had expected any baby of mine to have a big, broad forehead like Owen’s.  I remember musing on it, and thinking that it was probably because she was a girl.  But nope, that wasn’t the reason.  It was because she has FOP.  People with FOP have a subtle difference in skull shape which makes their heads look more narrow through the face.

Brand new baby Miranda. I'm sure nobody else would have seen the narrow head and face thing which I noticed (very subtle), but I saw it.

Of course, that day I also noted Miranda’s unusual big toes – in her case, they were about normal size, but they were bent inward and did have the telltale bunion at a the foot joint.

In the coming days, I also noted some differences about Miranda’s thumbs.  One obvious thing, her thumbs were bent inward toward her palms, in a way which matched the big toes, and also had a bit of a bump at the joint with the hand.  However, it wasn’t just that they were bent inward – the thumbs also seemed a bit “rotated” differently than the norm.  It’s hard to explain this particular point, but I noticed it.  It turns out that this is also common in FOP.

Of course, I wasn’t the only person who noticed my baby’s toe and thumb differences.  My midwife thought they might be signficant, and she referred us to a pediatrician because of it (nothing came of consulting with that doctor except a whole lot of frustration, but that’s a story for another day).  We also somehow got referred to an infant physiotherapist.  Now interestingly, the physiotherapist had no idea what she was looking at, but she did say that when you see bilateral toe and thumb deformities in conjunction with each other, that is often a sign of a genetic disorder.  (BINGO!)

When the therapist told me this – Miranda was about 3 or 4 months old at the time – I remember feeling a bit disconcerted, and I went home to do an internet search.  I joked later that I was trying to rule out “Fershluggener Eshleppen” syndrome; those words being my family’s joke words for anything sounding like a title or scientific name.  See how close I was to finding out about FOP?  Close, but no cigar.  I didn’t google the right terms, because nothing relevant came up.  Satisifed, I left it at that and assumed that the finger and toe differences were “just one of those things”.  Ha ha.  Ha.

Our physiotherapist was convinced that splints on Miranda's toes would eventually pull them outward to a more normal appearance. Therefore, we had these little neoprene and plastic numbers on her feet for several months. They did nothing.

Miranda had splints for her thumbs, too. Interestingly, these did work to pull her thumbs out of her palms, though they didn't change the unusual rotated nature of her thumbs.

Anyway, there were a couple of other things I noted about my daughter.  One was that try as she might, she had a really, really hard time as a young baby with “tummy time” – this is where the baby lies on its tummy and tries to lift its head up on its own.  Miranda struggled with this, and just couldn’t seem to get her head up.  I mentioned it to our physiotherapist, who was QUITE concerned, and figured it was a sign of muscle weakness (wrong – it was a sign of the partially fused vertebrae which are typical of FOP even before flare-ups begin, and which limit bending at the neck).  Imagine our physiotherapist’s surprise, then, when Miranda learned to sit up normally at the typical age of 7 months old!  According to the physio, this should have been impossible with Miranda’s “weak musculature”.

We were told to prop Miranda on a pillow to help her get her head up during tummy time. She could turn her head, but just not get it right up.

Finally, the last thing I noticed was that Miranda seemed to have a bony bump on the inside of each of her legs, just below the knee.  I felt these bumps, and wondered about them, but figured again that they were variations on normal knees.  In fact, these were “exostoses” – bony protrusions found at that joint often found in people with FOP.

There is one skeletal difference I didn’t notice – the hips and pelvises of people with FOP are a little bit atypical.  In my little chubby baby, it would have been impossible to see this.  However, I know of a woman whose daughter has FOP which didn’t become symptomatic until age 12ish, and she noticed a difference in her child’s gait which led to the proper FOP diagnosis BEFORE her girl became symptomatic (this one always amazes me).

Anyway, I saw all these various things before Miranda became symptomatic with flare-ups on her head at age 18 months and on her body at age 2 years, 1 month (diagnosis came at 2 years, 3 months).  Why didn’t I put 2+2+2+2 together and come up with something?  Well, first there was of course my fruitless internet search – obviously I was out to lunch about what I was searching for – but it gave me a false sense of security.  Second, there was the fact that my son had also had an abnormality at birth, and in the end, it turned out to be a simple muscle problem (torticollis, the tightening of a neck muscle) easily rectified by physiotherapy…  I had been SO stressed when we were dealing with Owen’s thing, and after it resolved, I was determined not to be such a worry wart with my next kid.  As such, with the experience of a second-time parent, no real alarm bells went off in my head with any of Miranda’s abnormalities until she started developing inexplicable bumps on her head at age 18 months.

All this goes to show that it really is true – moms know their babies better than anyone else does.  I recognized all those bits about FOP, but having no frame of reference, I didn’t know what I was seeing.





4 Responses to “What I saw before I knew”

  1. Kathleen says:

    I did not know about some of those signs of FOP, but good to know. I knew about the toes, and thought the thumbs and or pinkies had something to do with FOP also.

  2. carrie says:

    Great blog Karen. I agree that mom’s do see things that at the time don’t raise alarm bells but fall in to place after the dx. With Brooke it was her extra long torso. Wherever we went people would comment on how long she was and I thought their babies looked like halflings. It took quite some time for her arms and legs to catch up. She used to run around after her bath with her short broad neck and long torso and we would giggle that she looked like ET. She also could not touch her shoulders with her fingers like the other kids did in “head and shoulders, knees and toes” songs.
    The hand/wrist bones on the outside of her palms where also longer and more prominent and her fingers where exceptionally long. My father-in-law thought she had perfect piper hands and had early designs on her for bagpiping. Much like Miranda Brooke’s neck was stiff and broad and when crawling she looked like a wind-up doll and if sitting she would swivel from the waist when we called her name. There are so many variations of normal that the subtle signs of FOP would be so easy to dismiss until the unmistakeable symptoms appear. Thankfully, there are blogs like yours and much more media attention out there for new families. Take care.

  3. Patty says:

    great blog, certainly brings back memories. Emma is my oldest, so had no one to compare to, she was perfect! But when her sister came along 2 1/2 years later, I started to realize the differences. I always felt that someday I would come to know why Emma’s back wasn’t as flexible, why her face swelled, etc. Found out at age 9, Wow, life sure changed. She’s still perfect though!

  4. Saskia says:

    I don’t recall you ever mentioned the thumbs of Miranda before. Yorick has exactly the same thing. But he’s the only one in the Netherlands as far as I know…
    And yes, mothers know… I kept searching the internet, trying all different kinds of search-words, until I found that one site one day that explained it all….

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