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Mobility Aids, Osteogenesis Imperfecta

Posted by gzezulka @gzezulka, Jun 28 9:15pm

So, it's looking like the connective tissue disorder that I have is actually Osteogenesis Imperfecta (either Type 1 or Type 4). I have an appointment with a geneticist coming up this next week to get an official diagnosis. (And to hopefully get a refferal to someone to figure out why I am fainting.)

But I'm wondering, who do I bring up mobility aids and braces to? I'm in a lot of pain when I walk in my lower back and my thighs/hips. I'm young, only 24, and I have no idea who I should be talking to about this? How do I even bring it up? I'm really nervous about being taken seriously.

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timely | @timely | Jun 29 9:22am

So, is your Internist aware of this new diagnosis and that you are fainting?

Contact him Monday for the fainting to rule out low blood pressure or low blood sugar. Google to find out if the fainting is related to your connection tissue disorder.
While there, he is the one who can give you a prescription for mobility aids and make sense of who you should see next.

Call the geneticist’s office Monday and ask to talk to a nurse or leave a message for him asking if he is the one who gives a referral to who will treat you.
That way you will know too if the referral should come from the geneticist.
Do you want to take a family member such as your Mom with you to the geneticist appointment?
Make a list of any questions that you have.
If you bring someone, they also have your list of questions and take notes for you. They can ask a question too if something comes up or to clarify information.

Please post how this all turns out for you.

REPLY
Moderator
Justin McClanahan, Moderator | @JustinMcClanahan | Jul 8 4:24pm

Hello @gzezulka,

I'd like to invite @bmhartmann and @brcherry1350 who have both discussed being diagnosed with osteogenesis imperfecta to share their experiences with their diagnosis and how they have adjusted.

@gzezulka, being taken seriously is a common feeling in seeking medical attention. If I am understanding your post correctly, your provider did diagnose you with osteogenesis imperfecta? Have you talked with them about mobility aids? If you have an official diagnosis, you can typically ask your provider for a referral as well and share your diagnosis with providers moving forward.

REPLY
1 reply
bmhartmann | @bmhartmann | Jul 8 5:13pm
In reply to @JustinMcClanahan "Hello @gzezulka, I'd like to invite @bmhartmann and @brcherry1350 who have both discussed being diagnosed with..." + (show)
@JustinMcClanahan

Hello @gzezulka,

I'd like to invite @bmhartmann and @brcherry1350 who have both discussed being diagnosed with osteogenesis imperfecta to share their experiences with their diagnosis and how they have adjusted.

@gzezulka, being taken seriously is a common feeling in seeking medical attention. If I am understanding your post correctly, your provider did diagnose you with osteogenesis imperfecta? Have you talked with them about mobility aids? If you have an official diagnosis, you can typically ask your provider for a referral as well and share your diagnosis with providers moving forward.

Jump to this post

For me I was diagnosed at Mayo. My ENT saw my ankle doing something it shouldn’t and referred me immediately to Genetics. He also said based on my ears that it was possible I had OI. Genetic testing eventually found the defect. I have adjusted OK but at times it’s hard. The littlest things cause injury and sometimes injuries are so severe that nothing can be done to fix them. I feel like seeing endocrinology and physical medicine and rehab has helped me a lot with getting the correct treatments, mobility aids, braces etc. OI can be hard but
You can’t stop doing everything so it’s best to just know that if you break you will be less sad/mad if you were at least having fun when it happened.

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