StayAtHomeMom

1 hour ago, Womble said:

Mine started when I was 7 years old, but was undiagnosed until my mid-40s. (My teens were horrendous as I was accused of having an eating disorder, anxiety, you-name-it anything not to look any futher than a sickly, fainting teenage girl.) No-one has been able to think of a precipitating factor and I had always been a super-healthy, all day outdoors, up trees and wading rivers kind of girl before.  Family and friends say I became a different child pretty much overnight.

My 14 year old son was diagnosed last year after roughly 2 years of symptoms and we now know that hEDS and EDS run through the family.  He is currently diagnosed HSD.  Eldest son has the heart rate increase and is also pretty extreme in terms of his hypermobility, but is aymptomatic so not diagnosed, but has other issues.  So I assume there is some genetic factor at work.  

My younger sister, who is actually a half-sister, so not 100% the same genetically has lots of signs of dysautonomia but, despite extensive testing, no-one has been able to pin them down to a specific diagnosis.  My mother and both sisters are hypermobile like my son and myself, but they all have auto-immune conditions including rheumatoid arthritis and hypothyroid as well as IBS, whereas I don’t.

 

Sounds kind of like me. I am currently in the process of ruling out hEDS. ANA keeps coming back negative even though it runs heavy in my family (my mom and 2 aunts). My kids and I are pretty flexible so I think it is time to rule it out. If we don't have it then I plan on fighting for a serum catacholmine test (the urine one came up normal twice). 

Mine started after a brief run. Haven't felt right since. I suspect I have had it longer though. And my 16 year old was just diagnosised as well so that helps support my theory. I had assumed I felt the way I did because it was a normal response to smoking (started when I was 15). High HR, occasional heart beat skips, heart palpitations (didn't know that was what I was feeling), and exercise intolerance. Even the lightheadness upon standing. It was liveable. Never thought anything of it until it got bad, and then the dizziness and breathing issues started. That was all 3 1/2 years ago. Just turned 30. 

I think for some people surgery can trigger it due to laying down so much, or depending on the surgery, making the body mad and malfunction. Finding an underlying cause can help with piece of mind and treatment. But most people don't find it. 

I get visual disturbances as well. Kind of freaked me out at first but it has become less, especially since my lightheadness has eased quite a bit.

Make sure they check for autoimmune. Considering the joint pain and swelling. If you can manage to take a picture of your hands I would. 

Raw hard data is the best way to "prove" your symptoms. The specialists in dysautonomia are more apt to believe symptoms but other doctors like to dismiss them. 

Good luck on your next appointment. 

23 hours ago, JimL said:

So far, I've gotten the crazy looks or at best, go through the motions of whatever tests they happen to do. One problem I see with specialists is that they don't take the whole body into consideration. If you go to a GI guy, you have a GI problem causing it, Cardiologist, a heart problems, etc. A good internist should be able to put the pieces together, but with 10-15 minutes per patient, it doesn't lend itself to deep discovery. 

There are some naturalist doctors that do take the whole body into consideration, but insurance doesn't cover them. I agree with your statement though. I think that is the hardest thing to deal with. 

2 months for a new patient appointment isn't too bad. Due to cancelations it took almost 4 months for my son to get a new patient appointment. Even when I scheduled it, it was 2 months out. My specialist is alway super busy and behind. He has a nurse practitioner now, so that has been helping out a lot.

It is definitely worth the wait. When you have a doctor that doesn't look at you like you are crazy, it is the most wonderful feeling in the world. 

Not sure about chest straps. I use a Garmin. It can be viewed using a smart phone, computer, or tablet. 

I am better in the morning and progressively get worse throughout the day. No matter what I am doing. Most people with POTS seem to be the other way. 

Maybe something to do with your nervous system just having a hard time during those hours?

I got called for jury duty in the beginning. Good news was I was started on the medication and was called for grand jury. I enjoyed the experience immensely I had a few dizzy spells but I was able to do it. You should be able to call and get excused. 

On 3/7/2019 at 7:10 PM, MeganMN said:

Thanks to everyone for the replies!  The IM doctor that I went to is one of the doctors that I work with and he is a really brilliant, super nice doctor who likes to solve problems and figure things out.  He just added an AM/PM Cortisol, another urine test called a VMA, and the Chromogranin A blood test.  It sounds like Mastocytosis and/or MCAS can also cause some similar elevations, so I am curious to see what will become of all this.  I have also had issues in the past with flushing, as well as POTS symptoms that were initiated after a course of Prednisone, so he was particularly interested in the Adrenal/Cortisol path as well as some other issue with the Endocrine system.  Glad I went to him.  We will see.  I have to wait a week probably for all of the results.  Sounds like the Chromogranin A is the most specific.  If that comes back good then I will probably ask about more on the MCAS/Mastocytosis level (I think testing for Tryptase?).  Thanks everyone!

It sounds like you are very lucky. Having those interested doctors makes the most progress. Good luck on your test results. 

On 3/8/2019 at 7:49 AM, Lily said:

My sister has hEDS.  My POTS doctor thinks I might have it but he's not sure.  My knees and elbows are hypermobile, and my skin is abnormally stretchy, but I can only touch the floor, not put hands down.  And I can't touch my thumbs to my wrist.  HEDS would certainly explain why I have blood pooling!  I haven't gone to a specialist because I don't dislocate, but perhaps I should.  

I haven't dislocated either, that I know of. I will "tweak" things but they usually don't last longer than a few days. How long have you had POTS?

16 hours ago, bombsh3ll said:

There is a genetic test for every type of EDS except the hypermobile type currently. HEDS is diagnosed based on clinical examination including Beighton score and symptoms alone. 

That may change in the future. Stretchy skin could also fit with the classical type. 

Because of my dad's presentation (although being alive at 78 would be very rare) & son's facial features, I took a genetic test to exclude the vascular form of EDS which fortunately came back negative. I don't have any features of vEDS myself & POTS/orthostatic problems never seem to be mentioned with it either. The symptoms within a family can vary greatly but the underlying gene present in affected family members is the same. 

The genetic test I had was with INVITAE where you send saliva, if anyone is interested.

Regarding the blood pooling theory though, I'm not sure about that. I don't believe I have blood pooling, I've no swelling, discolouration or varicose veins & feel my problem is hypovolaemia ie not enough blood rather than an ample quantity that is collecting somewhere it shouldn't!

How do you identify blood pooling if you have it? I know there is one specialist place in the US that performs some kind of supine and upright isotope haemodynamic scan to see how your blood distributes, but are there physical signs that you can see or feel?

B x

As far as I know the discoloration is the symptoms of blood pooling. I don't get it a lot either. I will when I take a shower but that's it. And I have been told I have livedo reticularis (as well as my son) so maybe that's all my discoloration is. 

I agree with a previous post about the metoprolol and melatonin. I also listen to audio books to help me sleep. Someone with a soothing voice. My son is currently going through the same thing. Just make sure you are going to bed and getting up about the same time. Your body should eventually get used to it. A fan might help too. 

2 hours ago, bombsh3ll said:

Just generally weak connective tissue I think. To be honest my breasts had ballooned up to a G cup during pregnancy & it was my second surgery on them after that which wouldn't heal so I'm not too surprised the skin there is thin. 

My dad has awful varicose veins, abdominal aortic aneurism (just monitored regularly, found on a scan for something else) and lost all his teeth through gum recession, though he did used to smoke. 

EDS can have many different symptoms within the same family as connective tissue is present throughout the body, so which areas are affected can vary from person to person. 

B x

That is interesting. I thought it presented exactly the same based on your type. I am working on an appt with a geneticist so hopefully I can get in and he can test for my son and I. Not sure which would be a better answer, but hopefully he can give a definitive answer either way. 

UPDATE: Based on the personality test I took the other week, it looks like I don't have OCD. My OCD tendencies are just personality quirks. I am kind of excited that I don't have OCD and can go back to it is a joke. 

17 hours ago, bombsh3ll said:

Wound dehiscence, thin, difficult to suture skin & a lot of intra-abdominal adhesions. Appendix which is normally done laparoscopically required extended midline laparotomy, 2 weeks hospital stay and TPN feeding until my digestive system started to work again. 

This was all long before POTS.

B x

I don't think I have ever had those issues. It is interesting though. I had to look up the first one. I wonder what causes that for you? Just not enough collagen in your skin?

What do you mean by surgical complications?

59 minutes ago, bombsh3ll said:

Thumbs no, pinkies yes, feet twisting no. 

Elbows yes, hands on floor yes. 

I definitely think it would be worth you getting checked out. 

Whilst EDS isn't treatable unless you need surgery, and nor do I believe it causes POTS, being diagnosed with it helped me retire on disability grounds as EDS is not reversible, whereas doctors are reluctant to state that POTS is permanent (despite mid-life onset and progressive course in my case). 

This may hopefully never be relevant to you, however I definitely plan to have my son evaluated before secondary school, as contact sports are best avoided in EDS. (I always had a note or hid in the toilets so sport didn't come into it at school for me, I think I instinctively avoided it).

B x

I am in the process of finding someone to rule it out since my son got diagnosed the other day. 

Disability is definitely in my future. I currently work part time, but it is a true one in a million job and if it disappears (it is a small struggling business) then I need something to fall back on. I am also working on mental disabilities as well. OCD and ADD. 

Sports was never my thing. I like watching, but playing was always a disaster. Maybe that is why I have never had injuries that required surgery. 

Have you ever rolled your ankle but it never sprained? Looking around at other people they injure things fairly easy, but anything to do with my joints have never injured. Thought I was lucky, but these last few years I have been looking at things differently. 

Oh and also I forgot, my children and I can also grab our hands behind our back, with one arm coming from the top and the other from the bottom. Showed my chiro and he said it was not normal. Scratching our backs are easy

Nope. Mine always showed normal. I would be kind of excited for something abnormal. A lot of my tests come back normal and it is always a let down. I feel like they should find something. 

What is 5-HIAA?

2 minutes ago, bombsh3ll said:

My son who I think also has EDS does that too! I can't, never have. It looks gross & makes me wince when he does it!

You can look up the Beighton scale on google with pictures and see what you score - 5+ out of nine is diagnostic. It doesn't include wrists though. 

B x

I have and the only thing I can do is one thumb, and the pinkies. I don't think my knees and elbows go more the 10 degrees further than it should. And I can barely bend down. Interestingly though, if I am sitting I am much more flexible. If standing, there is a muscle or tendon in the back of my knees that stops me. Not sure if it that way for everyone else though. Always thought it was odd. 

Can you twist your feet so they are side by side toe to heel? My kids and I can, grosses out a friend of mine. Lol. 

11 minutes ago, bombsh3ll said:

I am so sorry your son has POTS, the one thing I can imagine to be worse than having it yourself must be watching your child have it. Getting a diagnosis and taken seriously is a really positive step though. It is great that he is going to have an echo (I recently had one too and knowing you have a structurally normal heart gives valuable peace of mind) and getting to try fludrocortisone. I hope he has a positive effect from treatment.

Statistically, teens and males have the best chance of remission so there is hope in that he ticks both of those boxes. 

Do you or any family members have features of hypermobility/EDS? Others in your family may have these but be lucky enough to escape orthostatic issues. My dad 78 clearly has it and son 10 looks like he has it, but my dad is as fit as an ox and has never had problems standing. 

I was diagnosed with hypermobile EDS since developing POTS, but the other features of it are minimal in me & nothing I would have ever seen a specialist for. I know there is an association with POTS and EDS, but I will also never stop searching for an actual cause and treatment. People are born with EDS but not POTS, so I don't necessarily believe it is causal. I highly suspect the fact that I produce no renin or aldosterone hence cannot retain adequate fluid has far more to do with it in my case. 

Best wishes for you and your son,

B x

My next thing I want to rule out is hEDS. I like to use my husband as a "normal" and I have realized that my kids and I and way more flexible than him. My mom is pretty flexible as well and one of my brothers. It is hard to tell with my mom because she has RA but I am thinking her RA doesn't effect her range of motion as bad because she is hypermobile.

At first I dismissed hEDS because I have never had to have surgery to correct anything, but most of my joints can pop in and out. And my youngest son showed me one day his shoulders can do it too. He lifted something, relaxed his muscles in his shoulder, and his arm dropped out of his shoulder. 

I have also suffered from low background body pain (in my joints and bones) for as long as I can remember, popping and clicking joints, and stiffness in my joints. I have had tests to watch for RA added to my yearly testing for the last 5 years or so and it keeps coming up negative. And no inflammation. Not sure if hEDS can cause these things. 

The other day we were at the doctor's office and my oldest son was sitting on the exam table. He was leaning to the left with his weight propped up on his left arm. He had his hand faced back of it down and had all of his weight on it. It was comfortable and didn't bother him. My husband pointed it out that it was weird. I shrugged. I do it too. So many things we do that is apparently not "normal" .

12 hours ago, JimL said:

Gotta wonder what all of you may have been exposed to that may have caused this. If you didn't have it as a kid and no one in your family did, I'd look there. 

My mom asked if there could be an environmental link and I asked the doctor the other day, she said no. I suspect I had it as a kid. I have always been more tired then everyone else, high HR (98 sitting, never checked it standing), and exercise intolerance. 

31 minutes ago, aljanny said:

@Pistol I'm glad you were able to get that regulated! I've been seeing the term hyper-pots around the forum, but I'm not sure what it is - hyperadrenergic pots? Also, does POTS often run in families like that? 

It can. Depends on the underlying cause. My 16 year old son was just diagnosised. We have no underlying cause yet. But I am determined to find it. 

I may be your hydration levels causing the change. I watched my son's TTT week ago and his was all over the place too. Not sure 100% what causes it though. He was diagnosed with POTS. His HR was definitely elevated. Post an update what your doctor says though. I would be interested to hear. 

First I would start with talking to your doctor. They would have an idea about any medications may help. 

Second I have a hard time with extreme heat. Summers are brutal. In fact last summer there was a discussion about cooling your feet to cool off the rest of your body. Have you tried something similar to that?

Finding the triggers and avoiding or minimizing them can help you deal with your body issues. And most symptoms cycle. So just because this is your worse symptom now doesn't mean it still will be in 6 months. Try treating your body like a science experiment. Introduce things one at a time to see what helps and what doesn't. It is different for everyone. 

9 hours ago, jklass44 said:

I didn’t know thigh pain could be caused by low potassium. Do you have to take supplements?

No but when I drink vitamin water with extra potassium it makes it go away. I guess it could be any electrolyte, but I vaguely remember low potassium can cause Charlie horses and it is just an assumption. It used to be both thighs when it first started a few years ago but for the last year or so it is only the right one. It feels like someone is twisting the muscle. I constantly rub on it when it happens to get a little relief. It is kind of odd.