Osteopetrosis or another rare genetic bone disease unique to me?

11 weeks post my left femur break &  surgery to insert a titanium rod from my hip to my knee & I am still on 2 crutches & will be for another 3 months at least. My Surgeon is pleased with my progress but keeps warning me this is a long slow process with healing expected to take 18 months.

The Break x-ray (Ouch!)

MX_11184_Sam's broken leg-1
In terms of diagnosis & investigation as to why my femur broke spontaneously ( remember this is the longest, strongest bone in your body and it doesn’t just break as a rule), the Specialists are leaning towards a rare genetic bone disease called Osteopetrosis. With Osteopetrosis there is a malignant infant version which is horrific & most babies don’t survive & then there is an adult version which is milder & life expectancy is normal. With this disease the bone mass density is extremely high (mine is) & the bones then become brittle as a result & either break or severe Osteoarthritis sets in. I’ve had Osteoarthritis in numerous joints & my spine since my mid 20’s so that fits too.  Scoliosis  of the spine is also part of the disease & again I tick that box too. My Specialists think I have been blessed that my first break has only just happened at 49 & I agree. They cannot rule out more breaks though but we are hoping & praying this is my one & only. The only reason for not being diagnosed with Osteopetrosis officially at this stage is because I can swim ( or at least I could last time I tried a few years ago now!) According to my Endocrinologist people with Osteopetrosis are unable to swim because their bones are so dense they cause them to sink. My Surgeon is not so sure about that so diagnosis is pending…
Anyway, if nothing else it’s interesting to know some answers to so many questions may be forthcoming…watch this space!


5 thoughts on “Osteopetrosis or another rare genetic bone disease unique to me?

  1. Hi Sam, you’re an inspiration! Congrats on starting your blog and living your writing dream! Xxxxxlinda, your friend Kaye’s sister!


  2. Thanks so much Linda. I’ll be blogging on the subject of RA from time to time so would love for you to add any of your own experiences along the way. Take care Sam xx


  3. This is interesting, I have never met someone else with osteopetrosis or heard the details of their life. I broke my first bone in third grade, and have been carefully trying to avoid breaks since then. They say that it can affect people differently. I was kind of hoping it would get better as I aged, based off the notion that women loose bone calcium as they get older naturally, and right now my bones are extra dense…

    Liked by 1 person

    1. Oh wow, it is so rare to meet someone who has this. I have been told I am so blessed that my first break didn’t happen until I was in my 40s. Of course it had to be the strongest bone in my body that decided to break. My bones are also getting denser & I have hardly any bone turnover. That is all progressing. At the moment my feet fracture constantly & my left femur break refuses to heal. My right femur was showing signs of stress fractures so my Dr placed a pole in that one to prevent the medical emergency we had when my left femur just snapped in two with no warning.
      I’d love to hear more of your Osteopetrosis story. Feel free to email me if you’d like to chat at medicalmusings@bigpond.com
      Thanks for commenting.
      Take care Sam xx


      1. Yes, I just sent you a very long e-mail that I am not in the least regretting. Also, I utilize sarcasm possibly more than I should. I don’t think I used it in the email. Praying for you Sam!

        Liked by 1 person

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