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Omg, I Actually Have A Genetic Collagen Disorder!


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All this time, I am thinking that my POTS is not related to all of you with EDS. Well, I don't have EDS, BUT I have something called multiple epiphyseal dysplasia. It started showing symptoms when I was 6, with my hand knuckles getting somewhat large, one finger growing slightly crooked, and toes growing slightly crooked. At 12, they found the scoliosis(back in the early 70s). My dad was in the military, and the doctors couldn't figure out what was up with my bones. They sent my records to Johns Hopkins, and they looked at all my x-rays and records, and came up with the diagnosis. I have NEVER had any pain or other issues, so I never went to an orthopedist or a geneticist or a metabolic doctor for it. I was just reading today on it, and it says the genes that are linked to it control collagen formation. So, I guess that means I have a "collagen disorder", which would relate to the "connective tissue disorder"! This is a paragraph from the NIH genetics site:

The COL9A1, COL9A2, and COL9A3 genes provide instructions for making a protein called type IX collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, cartilage, tendons, and ligaments. Mutations in the COL9A1, COL9A2, or COL9A3 gene are found in less than five percent of individuals with dominant multiple epiphyseal dysplasia. It is not known how mutations in these genes cause the signs and symptoms of this disorder. Research suggests that mutations in these genes may cause type IX collagen to accumulate inside the cell or interact abnormally with other cartilage components.

But, I have to admit that I didn't have any of the crooked bones from birth to 6 years of age. And, I never had any POTS symptoms until the age of 46. So, don't know if it even is related to my POTS.

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So, Sue you are DXed with this? Wow- cool to have a name for your connective tissue disorder...I'm still searching for mine :( Are you short of stature? Is this DXed via bloodwork? Great to have a definitive answer!


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Julie, I see you were trying to be nice--"short of stature". Yes, I am plain ol' short at 5'2". I'm the shortest in my family of four kids, and the only one with the bone disease. I have been reading more, and it is commonly referred to "EDM"(so similar to EDS). While reading up on it, I saw that the medical literature says that most kids will have arthritic pain by age 20. I'd like to at least let them know that it is NOT necessarily true. I have never had joint pain, even though they look like arthritic hands.

Johns Hopkins gave me the diagnosis based on history and x-rays. I am almost positive they didn't have any kind of labwork to diagnose it back in the 70s. I already have a geneticist picked out to make an appt. with in Houston. He has a specialty of bone disorders.

I'm finding out some really interesting things about connective tissue disorders specifically about how it might relate to POTS, but don't really want to comment on it just yet. I'd rather research a little more.

I actually think I have two "genetic" disorders going on, and am finding connections between the two. It is really interesting. I have my first appt. in two weeks to get the ball rolling on these weird issues.

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