When you’ve lived with chronic disease for a while, you’ll inevitably arrive at a stage in your journey, where you feel you’ve come full circle.
Perhaps, you feel you are constantly going around in circles. This is often the experience many patients have when first seeking a diagnosis. It can be a confusing and distressing time.
When my femur first broke in 2014, I was quickly diagnosed with a rare bone disease. My pathological femur break was a pretty good sign something was amiss but I was also blessed, in some regards, as specific blood tests immediately confirmed the diagnosis.
These bone marker blood tests revealed my bone turnover was negligible, and my bone density scan revealed shockingly high bone density. Put simply, my bones were getting denser and denser. When new bone was laid down it was on top of old bone. The old bone wasn’t being replaced with the new, and the build up of layer upon layer, was why the bones were diseased and unstable.
The bone biopsy, post my femur surgery, also revealed diseased bone.
A Diagnosis Given
Endocrinologists and Orthopaedic Specialists all concurred….. a bone disease was indeed the issue. However, it was a disease like they hadn’t seen before. It had a malignant pattern but wasn’t cancer, not at this stage anyway. An Oncology review gave the all clear in 2016 in terms of cancer. We needed to keep an eye on it though.
It had some similarities to Osteopetrosis or Marble Bone Disease, but it wasn’t quite following the known pattern of those rare diseases.
It was diagnosed as an Idiopathic Rare Bone Disease. A disease of it’s own kind. Special to me! A mutant gene likely the cause.
Genetic Testing was discussed and, in 2015, I was included in a hospital/university research project, looking into genetic links with bone diseases. Unfortunately, for reasons unknown, this research project never eventuated. Answers in regards to finding genetic clues were put on hold, in the hope another research opportunity would present. To date it hasn’t.
Let’s Look At The Carousel Again
Traditionally a Carousel had wooden horses, rotated on what was an adult ride. If you stay on the one horse you could say you are going around in circles, but you can move from horse to horse. By doing so you’d likely get a different perspective of the Carousel and perhaps speak to different people on the same ride.
This is how I see my chronic illness carousel.
I’m in the process of returning to my first horse ride, while also being invited to ride a number of different horses. All of them still on the same carousel.
My recent Specialist appointments have all been of a similar theme. We’ve gone back to 2014. We’ve revisited my story, my scans, test results, and looked at the progressiveness of my disease as it stands today.
I’ve driven much of these conversations and I’ve been encouraged with the support my medical team have given. They also want to take a deeper dive into what’s happening. The progressiveness is concerning them. The ferociousnes of the disease, attacking my spine and feet at the moment, is leaving us all a little dumbfounded.
It’s time to get back on the horse, back on the Carousel.
Getting Back On A Horse
You know the old saying, “If you fall off a horse, get right back on it” ?
Well, I’m doing just that. I’m getting back on the Carousel, but not to ride around in circles. At least I hope not.
I’m getting on a new horse, a few new horses really.
My latest Specialist appointments have mapped out a clear ride, a ride with purpose. It’s not without the possibility of being stuck on the old horse and ending up nowhere, but it’s time to take a risk again.
My recent bone scan revealed definite spinal instability at L4/L5. My Surgeon, who was tentative about fusion surgery, is now definite I have no choice.
However, we are not rushing even though we are all concerned about my pain levels, and disability, as a result of my crumbling spine. Fusion surgery still may not work for me because of the quality of my bones. Plus, if we tamper with one area it could further compromise other areas showing evidence of disease.
Not an easy decision for me or my Surgeon. So he is organising a second opinion with a Senior colleague. Someone who will completely review my case with me and walk through the options as he sees them. A different horse ride, a different perspective.
I’ll then return to my Spinal Specialist in the New Year. We will then review “the review” and map out next steps.
It’s going to be a slow, and quite literally, painful process but an important one. We have to get this as right as possible, weighing up all the risks and all the opportunities.
Choosing Other Horses
I’ve also returned to my Genetic Testing horse ride. My latest Endocrinologist appointment took a trip back to 2015 and the failed research project.
My Specialist asked me had I considered seeing a Geneticist. “Yes, I had and it’s on my 2020 must do list“, was my reply.
She suddenly remembered a colleagues name who specialises in rare bone diseases and genetic links. This Specialist works at our local Public Hospital….perfect!! My Endocrinologist said she would be happy to contact her to set up a meeting with me.
Another new horse ride ahead on my chronic illness carousel. It may not eventuate in revealing anything more than we know, but I’m ready to take this ride. If nothing else it will be interesting.
I also discovered, at my Private Hospital a Geneticist has just set up a practice in the new Specialist medical wing. I’m going to make an appointment to see him in the New Year. A side car ride perhaps, but nevertheless, I’m looking forward to chatting with him.
What Will Taking Another Ride On The Carousel Really Achieve?
Likely nothing other than perhaps understanding the disease better. It won’t change the prognosis. The nature of the disease still means no treatment or cure available, apart from surgeries to hold me together.
So why bother?
One, we need to rule out cancer again.
Two, it will be nice to quantify what we can expect in terms of the rate of disease progression.
Three, if we find the gene causing the disease, other family members can be tested.
Four, I need to be as confident as possible that fusion surgery isn’t going to make me worse and cause further complications.
Life is never without risks. Every day we all engage in daily living activities expecting all will be ok. It’s called general faith.
Making chronic illness decisions and choosing to get on the Carousel ride again, also means I need faith. Faith in my Specialists wisdom to choose others to provide second opinions. Faith in the new Doctors reviewing my case.
Hebrews 11:1 Now faith is the assurance of things hoped for, the conviction of things not seen.
Ultimately my faith lies in God. I honestly couldn’t venture on riding any horse on my Chronic Illness Carousel, without knowing He goes before me.
Knowing I can pray when I’m fearful of the future, pray when I’m full of hope and knowing God hears my prayers and understands my concerns…..that means more to me than any second opinion.
That’s why, with courage, I’m taking another ride. It’s time!
If you’re looking for genuine support, care, understanding & friendship, you are so welcome to join my closed Facebook support forum, Medical Musings with Friends . It’s a safe place to connect with others living with chronic & complex diseases, who truly understand the daily challenges. A warm welcome awaits.
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