I Think I Have Figured Out What Is The Cause Of My Pots

[icesktr189]

I have looked into EVERYTHING...

EDS, MCAD, CFS/ME... but the one that fits ALL my symptoms and explains even more is Marfan Syndrome. I fit ALL the requirements. Its explains why my vision is so bad and I can no longer focus my eyes. I am very tall for a woman (5'10') and very skinny. I have long, thin fingers. I have scoliosis. It just all seems to fit perfectly.

I have no clue how to bring this up to my doctor though. What specialist deals with this?

[HopeSprings]

I think a rheumatologist or a geneticist.

[nunntrio]

If you think you may have Marfans it is important to get evaluated by a specialist. They will need to do an echo because Marfans can have some serious implications on the heart. Below is a site that might help point you in the direstion of s apecialist that can help.

http://nmfconnect.marfan.org/

[icesktr189]

Thank you!

Thankfully I had one done recently, it shild mild pah, which I will be looking into more, but nothing with the aorta.

[juliegee]

Hi Dani-

I totally am on board with your Marfan's suspicion...and you definitely need to see a geneticist to confirm it. BUT, I don't think it explains the whole story with you . There are many of us with the TRIAD of a connective tissue disorder (like Marfan's, EDS, etc), dysautonomia (POTS, NMH, etc.) and a mast cells disorder (like Mastocytosis, MCAD.)

We are studying to try to find the connections between this group of disorders and even looking for researchers to study us. You most definitely are not alone. Sarah, from Canada, has put together a thread on the Canadian Mastocytosis Support site to bring folks with this triad together. You can join for free, just need moderator approval. I hope she chimes in with a link. If not, I'll dig it up. Drs. Francomano, (Baltimore/geneticist/internist and Afrin (Charleston/hematologist/oncologist) have commented on this triad & are aware we exist!!!

Depending on where you live, Dr. Francomano may be a great doc for you to see re. your connective tissue DX. She can also help link the rest of your issues as she is already aware of the connection- just a thought...

Keep researching, Dani. I am proud of you for figuring this out. And, welcome to our select club

Hugs-

Julie

[Bears Mommy]

My husband has Marfan's. He had it diagnosed at the Mayo clinic in Rochester when he was a teenager. He was rediagnosed by a geneticist, right before our son was born 7 years ago. His tissue is very stretchy. He is always pulling muscles, pulling joints out of sockets, overextending muscles - it's a little scary. He is double jointed (really triple jointed). We have to watch his heart because of it. He's had pneumothorax (his lungs spontaneously collapsed). He has stretch marks from growing as a teen. He however has no POTS symptoms, I do. Its almost comical.

If you have any specific questions I could try to answer them. If you talk to your doctor make sure that you have some solid evidence for them. One of the makers that our doctor talked about is that your arms are longer than you are in height. My husband is 6'5" his "wing-span" is longer than that.

Does any of that sound familiar to you?

[crowebirds]

I have come to the same conclusion with my daughter's condition that it is related to a connective tissue disorder, most likely EDS III and/or IV. She has all the classic signs of III and some mild vascular involvement. My family's history reads like a road map for Type IV and my husband's side of the family includes Marfanoid symptoms. There was never a diagnosis on either side. No problems were realized until each person's death, so it is really too late to go back and ask any one about their health. My father in law was really tall, had long arms and fingers and had Kyphosis. He also had a lot of heart problems which he succumbed to in 2007. My side of the family has really flexible joints, soft silky skin, dislocating joints (me only on this one) and the rupturing organs (abdominal aorta and intestines).

In my research to see how my daughter's bendy joints could be involved with Urticaria and Dysautonomia, I have found very little information. However, I did find that Mast Cells are made up of connective tissue cells. There is a college in our area that has a junior/senior level biology class on TV each week. One week they taught on the connective tissues and had a great visual aid that showed how all the tissues work. They explained how the cells could spontaneously rupture when they are overly excited in someone with a connective tissue disorder. I have not found a good site that explains the issues in someone with Type III EDS all on one sight. However, based on the information from several reputable sights that I have drawn together and one sight that specifically lists "Cold urticaria" as a connected condition, I truly believe that EDS is the source condition. I am still looking for more definitive information all on one site, but until then, I believe that EDS is her problem.

I have been visiting a discussion board for those with EDS III and many of them have POTS, it has been confirmed that EDS is one cause of POTS. Dr. Grubbs has confirmed this in several of his patients. I am currently waiting on an appointment with a Rheumatologist to get a confirmation. As part of my daughter's symptoms, she has several different types of Urticaria, but the cold variety most specifically, very flexible joints that dislocate and sublux easily, stretch marks that she has had long before puberty, easy bleeding, POTS and other Autonomic Dysfunction symptoms.

I don't know if anyone has made a connection yet with antihistamines helping not just the mast cell conditions, but it seems to me that it makes a big difference in my daughter's health with the EDS and POTS as well. Any time we have to take her off her meds, everything goes down hill significantly, especially the Dysautonomia. It seems as though their is an overall effect on the connective tissues in the body. The only thing is, you have to find the right antihistamines, and the right combination if one does not work alone.

Just some of my research and thoughts,

Robin

[icesktr189]

Thanks for the replies!

I was checked for EDS, but when I saw the geneticist, I was 9 months pregnant and pretty sick with POTS.

She wanted to see how far I could bend down to touch my toes (not very far at that time) and really did not do a great assessment.She did however say I probably did have some type of connective tissue disorder. No blood work was done however.

The only thing that makes me question it, is that I havent had any dislocated joints or breaks. I did figure skating and cheer, so I do question that.

My symptoms are high palate in my mouth, very small jaw, very long fingers and toes. I can bend all my fingers all the way back to where they touch the back of my hand. It freaks my fiance out LOL. I am very long and thin. You can see all my bones, especially my hips, elbows, and ribs. I can put my entire hand underneath my rib cage. I have a very long torso too.

I dont have stretch marks though. Never got any during pregnancy.

I have horribe vision problems, mainly trying to focus my eyes.

I do believe that MCAD and connective tissue problems are usually together. I have been taking claratin, and it helps a bit, but I have had severe POTS symptoms, so nothing is really working all the way right now.

Sorry if I missed anything, my phone wont let me see what was written when i reply

Oh also, I do think my wingpan is longer than my body. I just need to get back into a decent geneticist. Does anyone know any good ones in AZ?

[ramakentesh]

Some people who have Marfans are more likely to have POTS. But that is about as far as the connection goes. Just sounds like hypermobility to me.

[iheartcats]

TLC's Mom:

I have random hives that drive me crazy. Heat and cold and this and that bring them up. Even if I'm upset I turn into a tomato.

They are checking me for EDS and I see a geneticist in June so we'll see how that goes. Interesting to know, though, that the annoying random hives could just be a side effect of this.