u/Available-Parfait357

Hi I was previously diagnosed with EDS and my doctor decided to do genetic testing to rule out certain types and I seem to have OI/EDS overlap?

My geneticist got back to me about having markers for COL1A2 OI/EDS and simultaneously TNXB related to clEDS.

It was VUS but I have definite symptoms relating to both.

Definite bone issues and stunted growth with short stature and short legs (luckily somehow i'm a decent normal height although short), along with dental issues and unexplained holes under my teeth (that i'm getting looked into soon) and also most of the symptoms of eds, full body hyper mobility with daily subluxations and frequent dislocations, POTS MCAS, GI issues and stomach bleeding if I take Ibuprofen, completely unaffected by other otc painkillers, cervicocranial instability with chiari, Weird bone nerve pain(I haven't looked into it), Asthma, scoliosis, osteoarthritis, tendon tears/breaking, fractures, spinal cord suppression with tremors and essential tremors, fibromyalgia, soft skin, scars like in eds, hyperextensible skin, gastroparesis, worsening eyesight...

I have family history with definite similar symptoms as me.

I am probably missing certain things lol but yeah

Does anyone have experience with this? My doctor suggested family testing.

So hi, I'm new to this subreddit.. lol There is not much research on this.

Hi so I am diagnosed with hEDS and recently did a genetic test to rule out other types.

My results showed the genes COL1A2 heterozygous VUS and TNXB heterozygous VUS

“COL1A2 c.3118G>T (p.Asp1040Tyr) (Variant of uncertain significance)

TNXB c.10115C>T (p.Ser3372Leu) (Variant of uncertain significance) “

I don’t know what any of this means. Thought I’d share.

Does anyone here have a similar experience?

I want to go live on a remote mountain in the far north (not in north america) surrounded by ice and volcanoes and Orcas. Maybe a monk. Idk.

Greetings. I took an IQ test as a teenager and scored 142. I am unsure what it would be now that I am twenty-seven years old, but I am considering taking another test and possibly joining Mensa.

Throughout my adulthood, I have been diagnosed with several health conditions. I guess keeping it short, it is within the spectrum of connective tissue disorders and the comorbidities that come along with that.

Is it of common occurrence/what is the occurrence within the mensa community of chronic health conditions?

Edit: This is not a serious post asking for the literal statistics of this. I just like reading about other people’s experiences and thought of a question to get people to engage.