It's official.

[StayAtHomeMom]

Seen my specialist today in regards to my 16 year old son. It is official. He has POTS as well. Due to his symptoms he wants to start him on Fludrocortisone after he has an echo done. I have never taken this so that makes me a little nervous. They doctor mentioned if need be we can add and switch medicines in the future but wanted to start with this one. I suspect it is because we think he may have fainted once. 

Either way the rest of his testing came up normal. Including his ANA. I have decided at this point to see a rheumatologist or geneticist to see if there is something there. 

His symptoms started about 13 and now I am watching my younger son, who just turned 13, to see if he is going to develop it too. He gets lightheaded most times when he stands up, but he also hates drinking water. No other signs he has it yet though. 

It is a relief to know I wasn't imagining things, but it is also depressing. I know the struggle he has to go through and I wish I could spare him. I hope he outgrows it but I suspect he won't. Only time will tell I guess. 

[WinterSown]

I am sad to hear he has this but am also relieved for you both because now there is a diagnosis. Being believed is the first part of healing. I hope that his doctors are compassionate in how they help him manage the symptoms. I wish the best for your family. 

[StayAtHomeMom]

2 hours ago, WinterSown said:

I am sad to hear he has this but am also relieved for you both because now there is a diagnosis. Being believed is the first part of healing. I hope that his doctors are compassionate in how they help him manage the symptoms. I wish the best for your family. 

Currently he sees my specialist and a general practitioner. He hasn't seen his allergist in a few years. The pediatric cardiologist I brought him to a few years ago was a joke. Hopefully now that he is 16 I can get him into an "adult" one if he needs it. 

He starts seeing a therapist on Friday. Hopefully she can help him come to terms with his limits. He already shows some signs. Like he knows what will exhaust him. But honestly I am hoping a lot of his anxiety issues are actually POTS and he doesn't know the difference yet. 

[Pistol]

POTS runs amok in my family - all women have it, 3 generations. My now 14 year old daughter has been showing strong signs of it ( tachycardia, presyncope, low energy at times ) and I had her seen by a pediatric cardiologist as well ( who said she was fine ) and a halter monitor showed "just tachycardia". I have had hyperPOTS for 10 years and mine also "only" shows tachycardia. The trick is that they need to take into consideration that the "just tachycardia" occurs simply when standing. I am going to have to wait until she becomes more symptomatic until I can have her seen by an experienced specialist. Good for you to keep at it!!! I have found that in my family the earlier my nieces and sisters got specialized care the better was their chnace of leading a less limited life. In my case I was already older and had severe POTS symptoms and also had had symptoms in my teenage years that were never addressed. My opinion is that if Teens get diagnosed early and get into specialized care right away ( and with the minor advancement in POTS treatments ) they most likely have a good chance of being less affected by it than we. At least that is my hope and theory. I wish you and your son(s) the very best!

[StayAtHomeMom]

5 hours ago, Pistol said:

POTS runs amok in my family - all women have it, 3 generations. My now 14 year old daughter has been showing strong signs of it ( tachycardia, presyncope, low energy at times ) and I had her seen by a pediatric cardiologist as well ( who said she was fine ) and a halter monitor showed "just tachycardia". I have had hyperPOTS for 10 years and mine also "only" shows tachycardia. The trick is that they need to take into consideration that the "just tachycardia" occurs simply when standing. I am going to have to wait until she becomes more symptomatic until I can have her seen by an experienced specialist. Good for you to keep at it!!! I have found that in my family the earlier my nieces and sisters got specialized care the better was their chnace of leading a less limited life. In my case I was already older and had severe POTS symptoms and also had had symptoms in my teenage years that were never addressed. My opinion is that if Teens get diagnosed early and get into specialized care right away ( and with the minor advancement in POTS treatments ) they most likely have a good chance of being less affected by it than we. At least that is my hope and theory. I wish you and your son(s) the very best!

What makes me wonder is the fact that I was the first to get it and I seem to be passing it on to my boys (statically it should be less likely). Does everyone have hyperPOTS like you?

[JimL]

11 hours ago, StayAtHomeMom said:

What makes me wonder is the fact that I was the first to get it and I seem to be passing it on to my boys (statically it should be less likely). Does everyone have hyperPOTS like you?

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. 

[Pistol]

@StayAtHomeMom - to answer your question: yes, every one affected has hyper-POTS with syncope and BP fluctuations up to hypertensive crisis. I am the only one that takes seizures from the high BP. We all are taking the same meds ( Carvelidol and diltiazem ) for BP but I take a lot of other POTS meds as well. My nieces ( between 20 and 29 ) do not yet have the severe hypertension but they have the syncope, fatigue, orthostatic intolerance etc. They all started in their teens, as did I. Also - my mother and sisters became severely symptomatic in their early 50´s and I at 42. It seems to be tolrable until then, not sure why. In my case it was not related to menopause but with the others it could be. We are all unable to work witout restrictions ( I am disabled ) and we all are very much limited in what we are able to do in a day. I have 2 brothers and 2 nephews, neither of them have it, seems to only affect the females.

[bombsh3ll]

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

[StayAtHomeMom]

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. 

[StayAtHomeMom]

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" .

[bombsh3ll]

1 minute ago, StayAtHomeMom said:

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.

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

[StayAtHomeMom]

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. 

[bombsh3ll]

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

[StayAtHomeMom]

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

[bombsh3ll]

No I've never really had any joint injuries but never did much sports. I did gymnastics as a young child but puberty hit early & the two don't mix.

Just tried the arm thing and I can't do that either. I really don't think hypermobility is a major deal for me despite the Beighton score which only looks at a limited range of joints. My left knee pops out at times, it's not painful & I just pop it back in. I've also had lifelong GI issues (easily managed with meds), obstetric & surgical complications which go along with EDS, but on a day to day basis nothing that would bother or limit me in any way before POTS. 

I actually think there is probably a lot of diagnostic bias influencing the apparent relationship between EDS and POTS, creating a sort of self fulfilling prophecy. 

There are a minority of EDS patients with severely painful and immobilising joint complications and/or severe GI problems, who may develop OI through deconditioning and/or malnutrition/dehydration. Maybe SOME of them have overly stretchy veins, who knows.

Then there are people with less severe EDS who are under regular follow up with a knowledgeable doctor, who either report or get asked about mild/infrequent lightheadedness when they stand up, and consequently acquire a diagnosis of POTS which of a similar severity in a non-EDS patient, would have remained undiagnosed and never really bothered them throughout their life.

The third group are probably people who sound like your family and mine, one or more individuals develop severe/life altering POTS and a hunt for a cause ensues. Either the patient or the doctor learns about the association between EDS and POTS, & because the patient is mildly flexible or has had some joint or surgical issue that wouldn't otherwise have been recalled, they are evaluated for EDS, turn up a positive Beighton score and get diagnosed with HEDS, which in the reverse of the above scenario would never have come to attention without the POTS. 

So yes I think it is worth ruling EDS in or out, but the search for a cause and treatment for POTS shouldn't stop there. 

B x

 

[StayAtHomeMom]

What do you mean by surgical complications?

[bombsh3ll]

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

[StayAtHomeMom]

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?

[bombsh3ll]

8 hours ago, StayAtHomeMom said:

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?

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

[StayAtHomeMom]

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. 

[Lily]

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.  

[bombsh3ll]

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

[StayAtHomeMom]

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. 

[StayAtHomeMom]

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?

[Lily]

How long have I had POTS?  I'm not sure, because it sneaked up on me.  I started to notice more fatigue than I expected around 2007 or so, and the first diagnosis of anything related (neurally mediated (near)syncope) in 2011.  It has been getting slowly worse over time, but I can still hold down a full time job (with accommodations).