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Author Topic: Anyone else with Stickler's Syndrome or just willing to commiserate?  (Read 1352 times)

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Offline Buhsephine

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Hi folks.
I'm a first time poster who has been reading these boards every night for a while!

I am 27 years old, and I have Stickler's Syndrome, a genetic disorder (or defect depending on how nice you want to be, ha) that has caused me to not have ANY type 2 collagen.  All of my connective tissue has holes in it similar to Swiss cheese, and as you can imagine, this has lead to a huge amount of joint issues.

I have degenerative joints, very much like arthritis, but seemingly with lesser inflammation.
I am quite knock-kneed, and my knees are bone on bone.  I have lesser issues with hands and feet but am experiencing increasing hip issues.  I am also vision and hearing impaired.

I have only had three leg surgeries, but I sense i'll be having another soon.  Both knees were operated on when I was four, as my kneecaps had dislocated and were sitting on the SIDES of my legs.  At all times.
Next was a modified Fulkerson's on my left knee about five years ago. 
I have also been 'offered' a double patellectomy (hell no!) and various and sundry other procedures, all of which I am told are just band-aid surgeries until I require inevitable replacement of all of my major joints.
I am still shocked that I could be offered a patellectomy but not a TKR :)

I manage a store and am now on my feet for 9-12 hours, six days a week.  I can feel that I am damaging my body more so by doing this, but I am not qualified for other work.

Lately my knee has been slipping again, and the pain is really intense even by my opiate-medicated and synvisc-filled standards.  I also notice that my 'screw bumps' are much more prominent and that my... I think iliotibial band? Is ROCK hard much of the time.

I'll post a crappy set of recent x-rays tomorrow.
If you made it through this whole thing, thank you!
The real questions are as follows:

Anyone with Stickler's or anything similar?  Or at the very least, familiar with skeletal or joint deformities that one is born with?

Anyone know what I should be looking for to ascertain what my current symptoms are being caused by?

And finally, anyone know of any genetics-savvy orthopedists in the portland, Oregon, us area?  I can travel within two states or so if needed.  My previous surgeon is dead now, and the current synvisc provider is up-front about not having the first clue of where to begin with my weird-as-heck knees.

Thanks for listening and hello to all,  I just wanted to share some info.  I'm in pain and resigned to it due to the lifelong syndrome, but having to work and knowing it is hurting me is pretty distressing.

-Buh

Offline Kimberly 77

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Re: Anyone else with Stickler's Syndrome or just willing to commiserate?
« Reply #1 on: August 19, 2011, 07:36:54 PM »
I felt so bad for you when reading your post I just had to post and say I hope you get some answers soon:) Unfortunately I am not familar with your condition or most genectic disorders affecting the joints. I would recommend you go to maybe a teaching hospital and find the head of orthopeadics and go from there. You will need to find someone who specializes in high risk cases for sure. I am a high risk case also and I know from experience that you don't want to just pick someone out of the phonebook for something like your issue. Good Luck and I hope someone on here will have some suggestions for you.
Right leg amputee.
Osteoarthritis in left knee.
Medial femoral condyle defect, arthoscopy 8-2-10
Grade 3 defects, patella, medial femoral condyle, tibia scoped1-12-2011
Physical theraphy and awaiting microfrature 2-1-12

Offline Kimberly 77

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Re: Anyone else with Stickler's Syndrome or just willing to commiserate?
« Reply #2 on: August 19, 2011, 07:40:11 PM »
Scroll down a few post and you will see a post "looking for ortho in Portland Orgeon", they got some good replies.
Right leg amputee.
Osteoarthritis in left knee.
Medial femoral condyle defect, arthoscopy 8-2-10
Grade 3 defects, patella, medial femoral condyle, tibia scoped1-12-2011
Physical theraphy and awaiting microfrature 2-1-12

Offline Silkncardcrafts

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Re: Anyone else with Stickler's Syndrome or just willing to commiserate?
« Reply #3 on: August 24, 2011, 12:25:22 PM »
Hi Buh,

Totally relate to your condition. I have recently been diagnosed with Ehlers Danlos Syndrome and in the process of being screened for Stickler Syndrome.

It really sucks that these conditions are not well understood and ate very debilitating.

Whatever you do don't let anyone take out your kneecaps. This is very old school thinking and not done much now. There are much better options out there.

The Ehlers Danlos Syndrome National Foundation may be able to help. They are a US based organization.

Hope this helps.
11/1996 - RK LR
07/1997 - LK LR
11/1998 - LK MPFL Reco
12/2005 - RK LR Repair
07/2006 - LK MPFL Repair
11/2006 - LK LR Repair
22/05/08 - LK Trochleoplasty
11/02/10 - RK Trochleoplasty
07/03/11 - RK Chrondroplasty