January 11, 2013 at 1:29 pm #390NompancakesParticipant
Ive been trying to research everything before i talk to my doctor about genetic testing. And ive come down to possible EDS or MArfans.
Heres a little back story of my life. When i was 4, i had two hernias stitched back up that inwas born with. I had an outtie belly button snd a hernia on my right hand side. I read up marfans and thats one of the symptons that happens to marfan patients. Ive always been that skinny tall kid. Tough, i stopped growing when i was 14 thankfully and people caught up to my height. Im 5’6″ in height. And weigh 106 pounds. I heard that marfan individuals tend to be above average in height. I’m now average height but growing up i was always the tallest in school class photos. I play piano and people usually comment on my long fingers telling me im lucky to be gifted with long fingers to play piano. I have small wrists and small long limbs. I had an echocardiogram done and nothing was mentioned to me about any leaky valves though. Which is a main factor in marfans with heart conditions. I dont have a narrow face xD my mom says i still have my baby cheeks because thats the only part of my body that has some fat on it. I do wear glasses but my prescripion is very weak and i can see pretty well without my glasses. I have had to getbraces because i had very crowded crooked teeth. And my dad is a lot like me in the same body type. When he was my age he was 6’2″ and 125 pounds. But he was very small till age 17 where i was always tall growing up. Um my grandfather on my dad’s side had a heart condition as well but my dad doesnt know much details. He lived till he was 75 and died from acid arosion/ throat cancer which is why my doctor put my dad and i on acid reflux to reduce the risk of acid erosion.
On the other hand, dr. Diana mentioned in one of her videos that her family has a marfan type body but has eds. I can bend my thumbs back quite a lot. My friends used to comment in school when i’d do a thumbs up to them that my thumb was bent back more than normal. And i would just say haha im double jointed and youre not 😛 i can bend back certain toes too ever since i could remember. Im really pale. I used to be able to tan. Its odd.. The back of my hands are very smooth like a babies bum 😛 i can see my veins in places but not throught my body. I dont beleive i have vascular eds because they say you have large eyes, small nose, small lips, and a very narrow face. My eyes are normal sized, i have a long pointy nose that i dislike 😛 i used to get called carrot. XD and i have a small upper lip but i have a pouty bottom lip. My cheeks are a bit chubby xD and i do have a double chin sometimes which is weird because im underweight. Ive always had a hard time gaining muscle. Also i can pull my skin around certain places.
Should i discuss this with my doctor or will she think im a worry wart? My new years resolution is to get help and get at least 60% better.i would like the under lying reason to my IST and possible POTS (ive done a poor mans test on myself before) sitting was 103 bpm and standing was 135bpm.
On feburary 8th, im getting a holter monitor for 48hrs. Should i ask before hand, or mention it after the holter monitor?January 13, 2013 at 3:00 pm #3328Dr. DianaKeymaster
HI Nompancakes, my geneticist used the common worksheet to determine whether it looked like my son and I had Marfans or EDS with Marfanoid Habitus. I think the biggest question is whether your aortic root is enlarged. Do you know? Marfan.org is a great site to check out. If you go to “related conditions” and read about the “MASS phenotype”, you’ll be reading about EDS with the Marfanoid Habitus. I don’t think you’re paranoid at all! It is important to rule out Marfans, and I’m sure your doctor would agree! (well, pretty sure… ha). 🙂January 13, 2013 at 8:20 pm #3343Bendable2Participant
Holy smokes. This sounds like me, too. I’m new here and am trying to figure out WHAT I HAVE!! I am tall and skinny(ish), have no muscles to speak of, have what looks like autonomic dysregulation, and some folks are wondering if I have Lyme Disease. Could I have EDS with the tall/skinny genes? Mast cell medicines are the only thing I’ve found to help me so far (thanks to Dr. D’s videos!). My doctors think it’s “anxiety”. Give me a break. Oh, and I puff up like a blow fish pretty often. My feet are flat and my perky personality is becoming the devil-incarnate. Help?January 13, 2013 at 8:26 pm #3344Dr. DianaKeymaster
Holy smokes. This sounds like me, too. I’m new here and am trying to figure out WHAT I HAVE!! I am tall and skinny(ish), have no muscles to speak of, have what looks like autonomic dysregulation, and some folks are wondering if I have Lyme Disease. Could I have EDS with the tall/skinny genes? Mast cell medicines are the only thing I’ve found to help me so far (thanks to Dr. D’s videos!). My doctors think it’s “anxiety”. Give me a break. Oh, and I puff up like a blow fish pretty often. My feet are flat and my perky personality is becoming the devil-incarnate. Help?
Hi Bendable2! Welcome to our little corner of Heaven. ha. Just your user name sounds like “us”! Are you hypermobile? Most of us have been told we have “anxiety”. Don’t let that get to you, if you can! I got so upset the first time that happened, that I had a set-back. Not good. We need to try to “chillax” as we work on our health. I’m so glad mast cell meds helped! That gives us some clues right there. Did you see the symptoms checklist on my website under Articles and Handouts? If you can get that back to me, I can take a look — perhaps it will give me an idea of what is going on with you! You are in good company, my friend… 😉January 13, 2013 at 8:32 pm #3345Bendable2Participant
YES!! I am bendable — always have been. It’s been great (up until recently!) for dancing, but now, I can barely MOVE without hurting. OMG — YES! I will send the symptom checklist to you. I seem to have 80% of the symptoms on this list. FREAKY! My doctors would NEVER BELIEVE ME if I told them all of these symptoms!! Never in a million years. They already think I’m a head case.
Does anybody here have Lyme Disease or have you considered a diagnosis of Lhyme? I need to figure that out, too. I’m so glad I found this site!! Thank you, thank you!!!!January 14, 2013 at 7:46 am #3346NompancakesParticipant
Hmm… My doctor looked at my echocardiogram and never mentioned anything but tachycardia throughout. She had me take my atenolol 45 minutes before the echocardiogram too. Which i dunno got a proper reading of my heart or not because i think the medication would mask it even if tachycardia was present. I was uncomfortable 😛 i didnt wanna be there lol. The guy told me to calm down but the woosh noises of my heart were too scary 😛 im not even sure if my chest concaves or not. :S i know i can feel that chest bone that pops out. But if my chest does concave, its not very noticable xD all i’ve known my whole life was people telling me i should gain some weight because it wasnt healthy and im like… I try! I really do. I eat! XD i promise!
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