My Doctors' Appointments Today

[erickamcc0523]

I'm getting an endoscopy done tomorrow by my GI. I have never had propofol (the drug that Michael Jackson used) before, so I am somewhat nervious, though from what I've heard and have been told, it's somewhat easier on the system than versed is... I do hope so. My GI told me that although she has never heard of POTS, she is somewhat familiar with postural orthostatic hypotension, so hopefully she will become more familiar (and the anesthesiologist) with POTS by tomorrow. I do have a history of esophogitis and I have a hiatal hernia. I was also diagnosed with IBS today. I don't think that I will be having a colonoscopy, but I might, even though I'm not fond of anesthesia (I'll see how the propofol does), insist on having one done to make sure there aren't any damaged or diseased parts of my colon.

The appointment with the geneticist was pretty good, too. I do not have EDS, as, according to her, I don't have the extra stretchy skin ("a hallmark of Ehlers-danlos syndrome") nor the family history, although just from hearing from others here who do have an EDS diagnosis without the stretchy skin or family history, I might seek out a second opinion just to be sure. She did diagnose a collagen deficiency with the symptoms of joint hypermobility. She doesn't think that this is the cause of the POTS, although I tend to disagree, especially with the fact that the blood vessels in my legs and thighs have been known to burst unexpectedly... and if those vessels are affected by this, it stands to reason that the rest are affected as well.

[delphicdragon]

Three things.

1) The extra stretchy skin is a hallmark of the Classical type of EDS. There are multiple subtypes, including hypermobility, where the stretchy skin is not so pronounced.

2) In my (by no means expert) opinion, a collagen disorder with symptoms of joint hypermobility is most likely EDS. I am SHOCKED that she gave you that stupidly vague diagnosis!!! There are other collagen deficiencies (Marfan's and Osteogenesis Imperfecta) but you sound like you have EDS, as the ones I listed are more severe- though look into them to be sure.

Sometime people think that you need a family history to get a diagnosis - my father was diagnosed AFTER me, and he didn't have hypermobile joints but he did have fallible collagen. The penetrence of a disorder is how badly it effects someone. I'm pretty bad, my father was less so - though he was diagnosed after having multiple failed knee replacements due to the joints loosening.

3) Hiatal hernia along with GERD and IBS are also typical in EDS and other collagen disorders.

I would get a second opinion if possible. Test yourself with the Beighton scale. If you're an 8 or 9 out of 9, it's more than likely you have EDS - though the diagnostic criteria is 5/9.

Sara

[erickamcc0523]

The more I've been thinking (and also with the help of your post Sara) the more I'm convinced that I need to go to another Dr. This geneticist tried to convince me that some of my other symptoms were psychosomatic (maybe some in the past, but definately NOT the ones I'm still experiencing on a daily basis... I haven't been more anxious or depressed than most people normally are for at least the past 18 months). I was kind, yet firm, in letting her know that she was wrong when it came to that. Plus, over the phone she said that she knew about EDS, but when asking me about symptoms, she had a print off from which she read the questions (you know, history of hernias, strange scars... etc). Too bad I was having such brain fog yesterday, because I probably would have been more firm in informing her to stick to research and stay out of psychology. She insisted that the POTS and the collagen deficiency had nothing to do with each other. I probably ended up wasting the 2.5 hours I was in her office. Maybe not completely, since I was kind of confirmed that I am on the right path... She's just not going to be able to take me all the way. However, I am unsure of any other doctors in this area who might be qualified to diagnose EDS. Does anyone know of anyone else in TN, or perhaps GA, KY, or NC that might be able to diagnose me?

Oh, BTW, depending on the day, I am a 8/9 or 9/9 on the Beighton score (and that's only because I don't test whether I can touch the floor with my hands w/out bending my knees on extra bad POTS days).

As far as the endoscopy went, I had it earlier today... the propofol wasn't too terrible on my system... I did get some presyncope when I tried to stand up for the first time (and I nearly fainted when I was stuck for the IV... the nurse immediately lowered the head of my bed and asked for someone to get her a cold washcloth to put on my forehead, and sat with me for at least 5 minutes to make sure I was alright... If I didn't need to not have water at that time, I think she would have gotten me some water). I did fall asleep for the test itself. I do have a grade 1 (out of 4) esophogitis, so I will be put on two proton pump inhibitors, one prescription for... probably for the rest of my life, and the one OTC to supplement for maybe a few weeks. I might be able to get off of the OTC PPI in a few months, but hopefully soon I'll have some relief with my stomach. I still don't know if I will insist upon a colonoscopy, just so the Dr can take a closer look to make sure that all I have is IBS and not something more serious, but reading the symptoms, I'm fairly certain that it is just IBS.

[iheartcats]

Ericka - I think this does call for a 2nd opinion. My doctor is having me go in and I don't think I have EDS...I was always flexible but less so now that I don't exercise. But that doesn't necessarily mean EDS (I just tried that scale thing, I think I have 4?). Have some stretchy skin spots, but not super stretchy. She still thinks it warrants a verification.

You seem to hit all the points, too. So yes, go with your gut on this one. We know how we feel best!

[potsgirl]

Erika,

Do they give you anesthesia with a colonoscopy? They were just going to give me a relaxant of some sort...I need to have one done, but I can't seem to drink a gallon of that disgusting stuff and go that long without food.

I agree - get a second opinion!

Cheers,

Jana

[mkoven]

there's a reason these are called SYNDROMES. there is variation! I went to see Dr. Francomano after getting the run-around from other docs. Her opinion is that I have a genetic connective tissue disorder that is like EDS-- I'm at risk for all and have numerous eds issues. but my tissue has a somewhat different feel--I tear before I stretch. In fact, I'm not that flexible, relatively speaking. Depending on how you count, I have a Beighton of 4 or 5. But my hips are sloshy, subluxy, as are many of my other joints in a way that's way beyond normal. I can sprain something with minimal trauma. The actual people doing the research know how messy the categories are. My skin is stretchy in places and is soft, but not to the extreme. She's happy to call it eds, because that's what it's most like. and at the end of the day, they haven't identified all the mutations. And I've got the cranial instability/chiari/tethered cord which often appears in eds, and may be the underlying reason for some of my dysautonomia symptoms.

if it's a genetic collagen defect, you need to be treated with the same care that anyone with a ctd needs.

the really experienced geneticists can handle grey-- they don't need black and white.

[erickamcc0523]

Ericka - I think this does call for a 2nd opinion. My doctor is having me go in and I don't think I have EDS...I was always flexible but less so now that I don't exercise. But that doesn't necessarily mean EDS (I just tried that scale thing, I think I have 4?). Have some stretchy skin spots, but not super stretchy. She still thinks it warrants a verification.

You seem to hit all the points, too. So yes, go with your gut on this one. We know how we feel best!

Oh, I definately am going with my gut... it's scream EDS about as loudly as it screamed POTS and gallbladder before (I figured out what was wrong with me before the doctors did). The problem is I don't really know who to go to around here... And I'm not about to ask the geneticist I went to for a referral. I'm not discouraged, though... heck, after what I've been through the past few years, it has probably increased my strength and resolve to stick through everything, especially with the two other (correct, might I add) diagnoses that I've figured out.

Erika,

Do they give you anesthesia with a colonoscopy? They were just going to give me a relaxant of some sort...I need to have one done, but I can't seem to drink a gallon of that disgusting stuff and go that long without food.

I agree - get a second opinion!

Cheers,

Jana

I was given propofol, which is a fairly new hypnotic drug... it's probably most famous because it was one of the drugs Michael Jackson was given right before he died that should have only been administered in a hospital setting... but when one is properly monitered (with O2 sats, heart rate, and blood pressure) it is fairly safe, at least as safe as everything else out there right now. Generally for colonoscopies and endoscopies, one is put under conscious sedation, basically you can still breathe on your own, but you're not responsive and are in a medically induced coma state.

[erickamcc0523]

there's a reason these are called SYNDROMES. there is variation! I went to see Dr. Francomano after getting the run-around from other docs. Her opinion is that I have a genetic connective tissue disorder that is like EDS-- I'm at risk for all and have numerous eds issues. but my tissue has a somewhat different feel--I tear before I stretch. In fact, I'm not that flexible, relatively speaking. Depending on how you count, I have a Beighton of 4 or 5. But my hips are sloshy, subluxy, as are many of my other joints in a way that's way beyond normal. I can sprain something with minimal trauma. The actual people doing the research know how messy the categories are. My skin is stretchy in places and is soft, but not to the extreme. She's happy to call it eds, because that's what it's most like. and at the end of the day, they haven't identified all the mutations. And I've got the cranial instability/chiari/tethered cord which often appears in eds, and may be the underlying reason for some of my dysautonomia symptoms.

if it's a genetic collagen defect, you need to be treated with the same care that anyone with a ctd needs.

the really experienced geneticists can handle grey-- they don't need black and white.

Where is Dr. Francomano located? I am still going to look around where I live to try to find a doctor who is capable of diagnosing EDS, but should that fail, I might try to make an appointment with Dr. Francomano. I want to be expecially sure that I don't have the vascular type, which, since I bruise easily and unexpectedly (and usually much worse when I get injured than would be expected) is a good posibility. I hear you about spraining something with minimal trauma... I can be walking, and my ankle will give out, and I'll limp for the next few days. My niece (the one with at least a 4 on the Beighton Scale) often complains of her ankle or knee hurting, with no obvious injury... in the past everyone has just thought that she was being a bit of a drama queen (if you knew her, you might think the same thing), but the more that I'm learning about EDS, I think that perhaps she might have a milder form than I do. I'm already worried about her being in gymnastics, doing flips, especially with hypermobile elbows. If she does have it, she at the very least needs to learn how to reduce the possibility of injury. Since the geneticist mentioned that the condition she diagnosed me with is inherited, I will probably mention this to my niece's mother the next time I see her.

[erikainorlando]

.... although I tend to disagree, especially with the fact that the blood vessels in my legs and thighs have been known to burst unexpectedly... and if those vessels are affected by this, it stands to reason that the rest are affected as well.

Sorry...I get lost here sometimes. Do bursting blood vessels in our legs have an association with POTS?

Thanks,

Erika

[erickamcc0523]

.... although I tend to disagree, especially with the fact that the blood vessels in my legs and thighs have been known to burst unexpectedly... and if those vessels are affected by this, it stands to reason that the rest are affected as well.

Sorry...I get lost here sometimes. Do bursting blood vessels in our legs have an association with POTS?

Thanks,

Erika

It's more to do with the Vascular type of EDS, although the weak and extra flexible blood vessels (which are more prone to bursting) can't bring the blood back up to the heart and will allow it to pool, thus causing the POTS symptoms.