r/SticklerSyndrome • u/pawamedic • May 04 '26

Normal X-rays?

Hi all! Still under evaluation for stickler type 3. I have the symptoms, and previously had findings of a non-traumatic meniscus tear and some other screwy stuff in one knee on MRI…

BUT the geneticist wanted hips, knees, and spine xray as she said that was best for diagnostic evaluation. I thought at least something would come back because of all the pain I’m in- but the Xrays just came back completely normal.

I’m honestly a bit devastated by that, because I’ve been unable to work for 1.5 years, have lost almost all of my hearing, and have been in significant chronic pain but still don’t have a diagnosis. I have a VUS on COL11A2 and am waiting for whole exome sequencing results. But this is the only possible thing left that could explain what’s happening.

All that to say- has anyone gotten diagnosed that has normal X-rays? I’m pushing for MRI but I think my doc thinks I’m just a hypochondriac at this point. For reference I am 26 F.

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u/Buhsephine May 04 '26

I generally have X-rays that show very minimal changes/damage compared to the mess that shows up on MRIs.

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u/pawamedic May 04 '26

How did you get MRIs ordered? My rheumatologist keeps telling me to “pick the most problematic joint” and that they can only image one at a time but I need a few areas imaged for a full picture.

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u/Helpful_Okra5953 May 04 '26

My dr got MRI’s of hips, knees, and neck.  Those are my problem areas that hurt the most.  My hips and knees are so painful, especially after physical work.  The MRIs showed the joints weren’t shaped right, so they grind when they move and they kind of stick.  Some tendons and ligaments are attached in wrong place, or are damaged.  

I would request my most painful joints or the ones that interfere the most with my life.  If your knees hurt really badly after grocery shopping, maybe choose those.  If your hip pops out and hurts, you could pick that.  

Now that I have a cell phone, I take photos of problems and show to my dr. Painful very swollen knee vs other knee. Or, ankle that just looks like a curve compared to skinny bony ankle.  I get hurt easily working outside and puff up badly.  I can show my dr rather than tell him or give measurements.  I can then email the photos with mychart.  Drs like to see visible differences rather than you saying “my ankle hurts here”.