It’s A Rare Genetic Bone Disease

It’s 11 weeks post my left femur break and surgery to insert a titanium rod from my hip to my knee.

I am still on 2 crutches and 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

Possibly Osteopetrosis

In terms of diagnosis and 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 and most babies don’t survive. Then there is an adult version which is milder and life expectancy is normal. With this disease the bone mass density is extremely high (mine is) and the bones then become brittle. As a result they either break or develop severe Osteoarthritis.

I’ve had Osteoarthritis in numerous joints and my spine since my mid 20’s so that fits.  Scoliosis of the spine is also part of the disease and again I tick that box. My Specialists think I have been blessed that my first break has only just happened at 49 and I agree.

They can’t rule out more breaks though but we are hoping and praying this is my one and only.


Yes I Can Swim…Why Do You Ask?

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, due to the dense bones causing them to sink.

My Surgeon is not so sure about that theory so diagnosis is pending…

Anyway, if nothing else it’s interesting to know some answers to some questions may be forthcoming…watch this space!

Update: March 2018……

My left femur remains broken. It’s known as a non union break. Despite numerous surgeries to try and encourage bone growth, my bone disease continues to attack the bone, preventing healing. It even dissolved a bone graft. My Specialists have never seen anything like it. 

In 2016, my right femur developed a mid shaft stress fracture. My Surgeon consulted Orthopeadic and Radiology colleagues as he was concerned a full break was imminent. It was decided the best thing to do was insert an intramedullary rod in my right femur to prevent a repeat of my left femur medical emergency.

Since 2016 I have also had numerous non-healing metatarsal fractures and other complications.

My diagnosis remains as a rare genetic bone disease

6 thoughts on “It’s A Rare Genetic Bone Disease

  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
      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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