I Can’t Believe It…My Latest Lumbar X-Ray Uncovers a Missing Diagnostic Link in My Story!

I have some really amazing and interesting news…I’d even go as far as saying exciting and life changing!

Longtime followers of my blog will know the diagnosis of the rare bone disease “Osteopetrosis” has always been bounced around since my femur pathologically broke in 2014.

My Orthopaedic Specialists were confident in this diagnosis based on clinical symptoms (pathological bone breaks and patterns of my bone they examined through surgery), plus my blood tests and bone density tests always showed low bone turnover and high bone density……key Osteopetrosis disease markers.

My endocrinologist at the time didn’t want to confirm the diagnosis for various vague reasons so it remained a “maybe” situation.

There are three types of osteopetrosis, and they are classified by their mode of inheritance: autosomal dominant, autosomal recessive, and X-linked recessive.

The autosomal dominant form is the most common: usually, patients have mild symptoms that begin in late childhood to adulthood.

The autosomal recessive form, also called the malignant infantile type, is apparent soon after birth and frequently shortens life expectancy.

The X-linked form of osteopetrosis is extremely rare, with only a few cases reported.

There is also an intermediate type of osteopetrosis, comprising both milder autosomal recessive forms and dominant ones with early and severe presentation.

Rarediseases.org

I received my spinal X-ray report this week, which was done with the latest MRI/Bone scan.

The radiologist was so thorough on the day, and the Dr who has written the report is one of their senior ones.

I didn’t think much would come from the humble X-ray. However, to my surprise, something new cropped up that has never been reported before, and this is what it says:

“The pedicles appear slightly short
suggestive of a degree of congenital canal stenosis.”

This means I’ve had spinal stenosis since birth. So I looked up some credible research papers on the topic, and all report it’s caused by “Osteopetrosis”!!

Bingo….it appears we’ve been right all the time. It just makes everything make sense, and it explains why, as an adult, I am so disabled with it. It’s also quite a miracle it took as long as it did to progress to this level.

It would appear I have the intermediate type, which is a mixture of the dominant infant form and the milder childhood/adult version, and explains the severity of my disease in adulthood.

I have been truly blessed to have lived 48 years of a full and amazing life before it really hit me.

With the infant Osteopetrosis aspect in my disease, I could have died either as a baby or in early childhood. It’s just incredible the way I have been protected.

Haunting Memories

I’ve always had two standout childhood memories, which are as clear as if they happened yesterday.

The first one is surgery to have numerous baby teeth removed. I was about 7 or 8 years old. I was put under anaesthetic for the procedure, but I remember waking up feeling so distressed and my mouth bleeding profusely.

I also remember wanting my Dad who was unfortunately at work. I’m sure that didn’t make my mum feel great but dad was the extra caring parent so my response made sense.

Interestingly, one of the major symptoms of Osteopetrosis is that teeth come in later than normal so another diagnostic box ticked.

The other memory is an even earlier one. Osteopetrosis in children makes walking painful due to spinal stenosis and bone pain, among other things. I remember my mum wanting me to walk a relatively short way from our home to her friends house. I just couldn’t do it, so she put me in a pram. I was only 4 years old, but I remember feeling so embarrassed as I felt I was far too old to be in a pram! I also remember I sadly had no choice.

Does A Diagnosis Make a Difference?

The diagnosis doesn’t change the outcome in terms of treatment or cure. There isn’t any, but it answers so many questions for me, and that’s  priceless!

Everything I’ve experienced now makes so much sense. Yes, it’s rare. Yes, it’s a crazy disease. Yes, it’s progressive, and I’m acutely aware of the ramifications of that as my symptoms and my pain levels increase.

But I now know why, and for some reason, that knowledge removes its power over me. It’s part of me rather than being something attacking me from nowhere.

When asked what’s wrong with me, I will now simply say:

“I have a rare bone disease called, Osteopetrosis!“

Take care,

Sam xx

World Rare Disease Day is 29th February 2024

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