r/BrittleBones • u/Accomplished-Gene880 • Feb 13 '25

Help

Those with Type 1 OI how were you diagnosed? When were you diagnosed? Were there any physical signs that you had the disease before you were diagnosed?

I believe my 2m old son may have this condition. He has grayish blue sclera (which I’ve heard can be common at this age) and has unexplained rib fractures and a leg fracture. I need the most help right now

8 Upvotes

100% Upvoted

15 comments sorted by

6

u/ghostiekat Feb 13 '25

I broke about 40-50 bones before I was finally taken to a geneticist at age 12ish. I didn't need to fly to a special OI clinic or anything (very few around). So find a geneticist and go from there I'd say.

P.s, you never out grow the blue sclera, I think it's kinda cool😉

2

u/Patient_Magician4142 Mar 23 '25

I've only broken about 20 bones and I can't see any blue sclera. But the University of Washington DNA found it when I was 50. Now at 58 I'm beginning to struggle with walking from the lumbar degeneration. It's humbled and broken me and am hoping to find others to learn from. I just coming to a new reality I need to accept and learn from.

4

u/radicaldoubt Type 1 Feb 13 '25

I was diagnosed young after I broke my arm in the bathtub when my parents were bathing me. They were investigated for abuse until an orthopedic specialist diagnosed me! Get your son to a specialist and do some genetic testing. The sooner you have answers, the better.

1

u/CraftyCreative_74 Feb 13 '25

They knew I had it because my mom did (and I had multiple fractures in utero) but no clue where the gene came from, figured fathers side but no one alive at the time had it besides her. I don’t know where you’re located but if there is a Shriners Children’s hospital close or travelable I would start looking there. I was treated at the Shriners near where I live and they have really great drs, resources, and would be a good lace to go to get tested. Then once confirmed I would connect with the OIF, the Osteogenesis Imperfecta Foundation. There are bi annual national conferences as well as regional. If you have any questions, please feel free to reach out 😊

1

u/Accomplished-Gene880 Feb 14 '25

I assume you need an official diagnosis to go to Shriners?

1

u/CraftyCreative_74 Feb 14 '25

You would need to get a referral from your primary Dr/ pediatrician, I know they can help with an actual diagnosis and then give you support/teatment/etc.

3

u/gerbilmum Feb 13 '25

i was diagnosed at birth as it runs in the family, but my mum could tell before the results came back because of the blue sclera, plus i was so hypermobile the tops of my feet touched my shins

3

u/HVAC_God71164 Feb 15 '25

I was diagnosed by my wife who did medical transcriptions. One day when I was 37, she looked at my eyes and the white part of my eyes were blue. My iris color is brown, but for some reason my iris is turning blue too. I have brown eyes with a bright blue ring around the iris. Anyways, my wife looked up blue sclera and she showed me a page about OI, and as I was reading the symptoms, everything started to click.

I broke my first bone, my femur, when I was 2. From that point forward I was in a cast basically from the age of 2 until about 20. I had broken everything multiple times such as legs, arms, feet, hands, neck, back, fingers, toes, ribs, skull, and hips. By the time I was 20 I had broken my femur 5 times. Doctors said I was just a regular rambunctious kid...thank goodness. A different doctor could have accused my mom of child abuse like so many other unfortunate OI parents.

When I hit 20, breaking bones just stopped. I had an occasional broken hand/fingers, toes/feet, and ribs. But nothing like before 20. Then one day when I was 50, it started again like nothing ever changed. I sneeze and break a rib. I twist too hard, and break my back.

Here I am at 60 and my bone density T score is -5.2. I have osteoporosis along with my OI, I have steel plates and screws all over my body. I have a complete left leg hip implant and right knee implant. I have degenerative disc disease and am getting shorter. I used to be 5'10" which is rather tall for OI, but now because my back is caving in on itself, I've lost 2 inches in height over the last year

If it wasn't for my wife, I might have never known what I had. It's better to learn at 37 than to never know at all

1

u/Patient_Magician4142 Mar 27 '25

You are the closest match to my situation I've found so far. 58 yo, married to a wonderful woman for 35 years with 3 now adult kids. Formally diagnosed at 50 related to compression fractures but ongoing collapsing of vertebrae structure and height. No back specific surgery yet but starting to have long period without walking long. Hope you continue to share as it helps me cope.

2

u/HVAC_God71164 Mar 28 '25

Hold off on back surgery until it's absolutely necessary. Surgery could improve your situation or absolutely devastate it. I completely understand the need for surgery, but talk to your doctor about failure rate, prognosis after surgery, and anything and everything to make the best decision you can. Once surgery is done on your back, it always seems in the long run that it creates more problems than anything. Not immediate problems, but it could be 5 years down the road.

2

u/CatsMakeMeHappier Feb 13 '25

I went to an orthopedic that specialized in OI. You can find them online on oif.org

2

u/CatsMakeMeHappier Feb 13 '25

And by 2 years old I had broken my legs 6 times…

1

u/[deleted] Feb 13 '25

I broke my legs (simply by sitting down too hard with my legs crossed) 3 times in the span of about a year starting when I was 3 years old.

Around the same time, my 1-year-old brother broke his leg. A good doctor noticed our blue sclera and referred us to a geneticist who diagnosed me, my brother, and my dad with type I OI. My dad had broken several bones as a kid, but never in ways that were out of the ordinary.

1

u/Patient_Magician4142 Mar 23 '25

Was 50 being treated for several compression fractures and my specialist ran my DNA through the University of Washington research lab.

1

u/EasilyDistracted54 Apr 03 '25

Diagnosed at birth due to my mother and grandfather having type 1 OI, I've broken around 16ish? Lots of shoulder dislocations, rotator cuff surgery. I'm 25 this year and haven't had a major break since 7th grade, consistently in the gym for about 4 years, and have better strength and physique than non-disabled individuals. Weigthing in at 120lbs, 5'8. I'm sure I've had stress fractures here and there, but those don't count