A Pill for THIS?!

Diagnosed with Ollier’s as a little girl, I knew that I had what I called “bone tumours” in many places in the right side of my body. (Sure, I had heard the doctors use the term “enchondroma” but that was too big a word for a little girl!)

 Ollier Disease - Symptoms, Causes, Treatment | NORD (rarediseases.org) 

I knew they could turn cancerous down the road. 

I could see them mis-shaping my ribs and legs. 

As the months went by, my leg was getting “crookeder” and shorter than it was supposed to be.

I was growing (more) self-conscious. 

But oh, how my case is one of resistance!

I shut down in medical situations and pretty much refused to have surgical interventions. I tolerated the annual x-rays (and now MRIs) and beyond that, well, I felt “just fine”! 

I made it clear that there was no way I was going to be brave enough for an external fixator. Ilizarov principles of deformity correction - PMC (nih.gov) 

NO WAY! The force is strong in me :D and the difference wasn’t too big at first, so... voila. 

As things progressed, I did agree to having the growth plates in my left leg removed at 12. This reduced the difference from 7 cm (at least? Might have been far worse. I don’t remember because of that whole “denial” thing :)) to about 5 cm. This is how I lived until I had my leg straightened at 37 resulting in improvement to around 4 cm.  Leg Straightening | ProsOfProse 

Anyway, with all of this going on, I remember well-meaning adults and friends telling me that I should follow along with the research. 

That, imagine, there might “be a pill to fix this condition someday”.  

Oh, those words struck me. Though clearly meant as one, this was NOT a message of hope for me. 

Quite the contrary. 

It made me feel (ir?)rationally angry…

“How could a PILL fix THIS?”  was all I would think, looking at my crooked leg, dented ribs, and x-rays of my bubble-gum pelvis. 

The tumours are here, the bone is shaped. It is a fait-accompli. 

I felt nothing (pleasant) could be done, and that the research that existed was scary: cancer, deformities, amputations, paralysis. 

So, I made a strange choice. I decided I would not follow along with the research, despite my love of science. I could not handle it, so I stuck my head in the sand until it was forced up and out. 

Now, imagine my surprise as I sit here in 2023, having just listened to a presentation on the pill that might, just might, be able to help treat these tumours. 

IMAGINE?! 

No. It just.can.NOT.be.  

And yet… 

The research, in very, very, very early days is: 

promising!

This is so far outside anything I had dared to allow myself to imagine. 

Yet, with all the advances in genetics, etc. this is where I find myself now. The medications that target the IDH1/2 mutations might just help us. I will post more about this later.  

 Vorasidenib in IDH1- or IDH2-Mutant Low-Grade Glioma | New England Journal of Medicine (nejm.org) 

Of course, there are still so many questions! 

But a small part of me dares to now think “what if?” 

What if the medication can reduce tumour activity, then WHAT HAPPENS?  

Maybe the ache in them could go away? 

My bones are solid, I will always have deformity. 

But what if the risk of chondrosarcoma could be reduced? 

What if one of the associated cancers could be treated this way? 

What if there is a chance now, for those WHO HAD NONE?

What if it can be better for those that come after me? 

Science marches forward!

I never would have imagined chondrosarcoma in my pelvis could be cured in less than 3 hours. 

But: That happened. True story. Not “experimental” either. Nope. 

Treating Malignancy | ProsOfProse 

Just a run-of-the-mill event at that particular Interventional Radiology centre. 

Entire femurs are replaced now.

 Total femur replacement with 18 years of follow-up: A case report - PMC (nih.gov) 

I never dared to imagine. I never dared to have hope. 

My concrete, steel reinforced barrier of resistance is coming down a little bit. 

I am a little bit in awe. 

A doctor told me once that he saw “no reason for optimism”. The harshest words ever spoken to me (outside the playground, anyway). 

But, maybe, just maybe, it is ok to have just a little pinch of it?

xMJ

DISCLAIMER in case dr. negativity comes across this (he won't):

(Yes, I know this is not a cure.. Yes, I know the research is in early days. Yes, I know there are no promises. I am neither possessing false optimism, nor trying to spread it. I am trying to have a little hope for a better tomorrow, especially for those who have it worse than me : ).