type 4 and life expectancy

I am being considered for type 4 by my doctor and am scared about my life expectancy. I am currently 49yrs of age (will be 50 in a few weeks). Is there anyone out there who can give me some info?

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Hi there,

I am 49, too, and went through the same process that you are currently undergoing, starting last September. After years of perplexing symptoms and misdiagnoses, (including lupus), we finally found a great Rheumatologist, who told us that it was most likely that I had Ehlers Danlos Type IV. Even as the blood test for the COL3A1 gene came back negative, my family has a history of early deaths from aneurysms, and I was born with dislocated hips/had a bleeding ulcer at the age of 9, and multiple surgeries and hospitalizations for hematomas, ovarian problems, and lung issues, (all signs of Type IV), GERD, POTS, bleeding from the esophagus, and multiple bruising, a lung nodule, splenule, and neurological symptoms. The bottom line is that with any type, the range of symptoms vary, and there are crossover symptoms, so I guess allowing yourself to go through the process of feeling scared is important, but then know that someday (for me it took a few months to get past the worst fears), you may find yourself naturally arriving at a place of acceptance that allows you to maintain a stasis in your life, but only after you find out every piece of information you can get about your disease, and knowing as much as you can about how to take care of yourself. You may also find that you will know more about EDS than most of the doctors that you see.

It helped me to know that studies show that people who are lucky enough to know about their diagnosis live longer than those who don't know, so even if it is very difficult, it is a blessing to know, and if you have kids, it helps them, too. Oh, don't forget to find a good cardiologist, and to have an echocardiogram to ensure that your heart is working properly.

I hope that you can have a chance to see a really savvy PCP to navigate all the doctors, but mostly a really good geneticist (we live in the MA area, and we were lucky to find Dr. Jeff Milunsky at Boston Medical Center, and then Dr. Clair Francomano (in Baltimore, MD). Until the results come back (and even after they do), it is a very difficult, scary process, and it often feels as if you are alone, even as it may be a little heartening to discover there are many folks (we're so lucky to have the internet!) living with various forms of EDS with crossover symptoms of Type IV, even if the COL3A1 gene turns out to be negative. The geneticist said to me, "Whatever symptoms that you have, those are what we must deal with, regardless of positive or negative COL3A1." Learning about the range of possibilities in terms of statistics for longevity, and studying my own family history, the disease itself, andby joining support groups (you might want to consider joining the VEDS group on Yahoo, as the folks who belong to this thread are so very kind, and they have become more knowledgeable about Vascular Ehlers Danlos (and other forms as well) than any doctor I've seen. (This, above all, has helped me the MOST!) Hopefully, your doctor will order MRAs (non-invasive) from top to toe, to rule out aneurysms and dissections, to give you peace of mind, and/or information from which you can alter your lifestyle and seek the help of specialists (Dr. Black is the top-notch vascular expert in Maryland, and the NIH, Dr. Nazli McDonnell, Dr. Francomano and Dr. Hal Dietz might be able to help if you turn out positive for IV or other types). Dr. Dietz will even respond if you write to him via email with the information you have thus far. In addition, if you research online, there are ongoing studies out there, and lots of information about the progress being made in the area of knowledge, and hopefully, someday a cure. I saw one study of about 300 people with vascular ehlers danlos, and saw that the statistics aren't as "bad" as one may think, and my mathematician husband figured that through this study, that even with a positive COL3A1 gene, that there was a 50/50 chance of survival with each decade beyond the age of 50, with some folks even living into their 70s. As EDS is an orphan disease, the journey to understanding how the different forms overlap is just beginning, and finding money to research it is a challenge.
My heart goes out to you, and know that you are not alone in this process; I do hope you will be able to attend the ednf conference in July; it will be my first one, and all the experts will be there, too, discussing the various issues! My mother's father and nearly all his many siblings died on or before the age of fifty of aneurysms, and some on her mother's side died of aneurysms, and one of an aortic dissection. Yet, my mom, who is hypermobile and was sick with various things for half her life, but who was able to start weight lifting in her 40s, and to go on a strict diet, is now 85! She never goes to Drs., has broken her back twice, was suspected to have an aneurysm behind her stomach in her 50s, but is hanging in there, albeit with paper thin skin, vascular issues, and with a bit of Alzheimer's, so I figure if I can follow in her footsteps (even if my joints and heart are a mess), that my chances are pretty good, even as I walk both paths every day, appreciating waking up, and living each moment fully.

I wish you the very best in your journey, and feel free to write or vent anytime. It is a nailbiting journey, (particularly if you also have children), but you are not alone- certainly I will be sending prayers and positive energy your way.

Take care.

Sincerely,

Diana Cleaveland

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Hi. I was just diagnosed at 40 years old. In the same boat as u I'm afraid. Waiting on insurance to approve the blood test for Vascular type. Sounds like a fall into several types but I def have the blood vessel/vascular issues, scarring, thin skin, uterine rupture just to name a few. All you can do is wait unfortunately for the results......Not fun, I empathize with u big time :(

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Hi Diana. What is an MRA? THX

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It is a magnetic resonance angiogram- a way of looking for aneurysms and dissections that doesn't involve extensive invasive procedures, which can be risky for EDsers with vascular issues. It's like an MRI to look deeply inside and at the vascular systems; when they did three of them- one for the head, one for the mid-body, and one for the lower parts. It's not painful, but they do have to put in an enhancement (like gadolinium), to see more closely.

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Hi Heavyhead,
Also waiting for testing on my two kids. My son mainly. His hands and arms stay red because of venous pooling. He's 13 1/2. Just wondering if you had any symptoms like that. I actually watched a hematoma form on his foot while just sitting there! He stays bruised up (that's what started us going to the doctors). I mean bruises where they shouldn't be. He has a high narrow palette, big flat feet, cigarette paper scars on elbows, knees, and forehead. His voice must be changing because he's always hoarse lately. He is definitely going through puberty and has big stretch marks on his inside thighs. He's very fair-skinned like me except he has blue eyes and I have brown. Any advice or info? Thanks, Kelly

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Thank you for your response. Your strength is so helpful. This must be God's way of showing me how to handle this issue. I am waiting to get scheduled for my genetic counseling appointment. My daughter (will be 16 in a few weeks) is a major concern of mine.

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Hi Kelly. With me it's been a progressive onset of a few things. Within the last 2 years I've noticed that my veins seem to have moved close to the surface of my skin and become more prominent. I've always had somewhat transparent skin, esp. on my chest, you can really see my veins streaming across. I have slowly watched my hands age about 50 years...puffy veins, shiny wrinkled skin, wide nuckels, my pinkies have bent inward...just really weird & troubling. (I'm only 40). I was diagnosed last year with Superficial Thrombophlebitis in my left arm, which is clotting of the veins closest to the surface of the skin. I've had slow wound healing with complications like stitches opening up & getting infections. Bruise & scar very easily. Spider veins have appeared on my arms & chin. Either my uterus ruptured or my prior c-section scar ripped open when in labor with my 3rd child...not sure which, & lost alot of blood. Just weird things that had no good explanation for happening. Those are the specific symptoms I've had that may suggest having the Vascular type of EDS.

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Hey Heavyhead,
Thanks for replying. I'm sorry you've had to go through so much. I have terrible spider veins that make my legs look so terrible (started at age 41). I don't have EDS, I'm just lucky I guess! My son is developing more and more spider veins on his feet. My husband has always had big, buldging veins everywhere. He's definitely got the Marfan body type. I will say a prayer for you and pls. let me know what's going on with you. Kelly

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Hi. Please call me Shannon. Heavyhead was all I could think of at the time I signed up! LOL ..... cause my head felt so heavy on my neck...my cervical stability is questionable (like there couldn't be more, right??)

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My geneticist mentioned Marfan. Don't really have the body type though. I have always had spider veins around my ankles. I think they're from impact & stress. Regarding your son, it does sound strange, esp. the pooling of blood. Maybe it could just be a clotting disorder. Have you taken him to a hematologist? They can run all sorts of tests and at least rule things out regarding his blood. Just a thought :)

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Hi AngelHand. Totally agree with you about all the info from folks. It has been a real blessing hearing that there are people with the same symptoms & issues. Especially with EDS being a relatively rare thing. I have unfortunately encountered so many doctors recently that give it no credibility at all, totally blow it off. The Holy Spirit definately helps me cope with that kind of ignorance :~)

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& AngelHand, try not to worry. I know it's so hard! Especially after reading about it. Once I read the info, it was like no other type mattered. I totally started worrying! I'm waiting on my insurance to get that blood test right now. My oldest baby is 12 & she is my heart. Even if you end up having it, that beautiful smile of your daughter's is gonna remain unchanged and life will go on regardless. Just gotta try & focus on the here & now.... loving & hugging your children every chance you get & enjoying the gift that life is. Hope that's somewhat comforting to ya....I'm no professional, just a mom who gets how scared you feel :~)

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Hi Shannon,
We took him to the hematologist over a month ago and everyting came back normal. I was actually disappointed! I figured at least it was something I could put a label on and there was a fix for it. Oh well. Come on June 13th!! In a way, I am looking forward to getting the ball rolling but at the same time, I'm afraid to find out if it's type 4 (that would be my guess with all the reading and studying I've been doing). I guess my daughter could just be super hypermobile and my son could actually have the EDS IV even though hubby is just tall and lanky. I get confused about all the genetics. Thanks for all the info.. You sure have been through enough stuff of your own and you have such a great attitude. I find such wonderful personalities here, don't you? My husband says I've become addicted to this forum! I'll keep praying for you, Kelly

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Angel,
I am the same age, and even wonder, may I ask, WHAT DATE IS YOUR B-DAY? It sounds like we may be on the same day, or very close. I will be 50 on June 24th. When you said yours is in a few weeks, I wondered, do we have the same b-day?
Anyway, I think the shortened lifespan of Vascular Type EDS-ers depends upon the family and personal history. Is there a family and/or personal history of aneurysms, ruptured veins/arteries, strokes, etc? Also, how long have your symptoms been a problem, in other words, how severe are the symptoms? Are they bad enough that you cannot work anymore, need a ton of pain meds to try to control very tough pain? I am not a doctor, though I was going to be. But I don't know if ALL vascular type EDS-ers actually pass away so early...I mean, I have relatives who have EDS, vascular type, and they are in their 80's. But they didn't start having symptoms until their last half of life. But with ME, I started at age 4 with severe nosebleeds, allergies, and at age 6, started the pain real bad in my legs. By the time I was graduated from HS, I needed surgery to TRY to stay on my feet, and not in a wheelchair, and by my 30's, was in a chair. I started having heart symptoms in my early 20's, and know that I will not live to be old, but don't think I'm going anywhere soon. I don't have any aneurysms, and never have yet, but I DO have an aortic valve murmur. So, do you have anything to worry about? I don't know. It depends on when you started symptoms, what they are, how severe, etc. Best of everything, and God Bless!

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Happy Saturday Kelly! Isn't too funny reading posts & seeing all the personalities come thru. Some make me laugh, some make me go...Whoa! Good Lord! & some make me want to cry with empathy :~) Had to recently find a hematologist for my anemia & superficial clotting. He ran alot of blood tests too ~ everything was normal except I always seem to have an elevated sed rate. I know the CRAZY feeling of disappointment when tests come back normal. I'd have a different reaction not having Type 4 however! Thinking of having it & I can easily go into doom mode... & that sucks for me because I'm a champion worrier :~)(! My husband calls me "Woman with a spinning head"... it's a U2 song :) I can worry about a multitude of things all at once, plus I am a total airhead, which is my endearing quality..LOL

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Tigerluv, I have wondered about what you said regarding...If every single Vascular EDS means a shortened life. Thanks for saying that you have relatives in their 80's. So nice to hear! If my test does come back positive...That's what I would like to think about & focus on...your relatives :~)

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Hi tigerluv; let me take this opportunity to wish you a very happy birthday on June 24th! And welcome to the 50s, the water is great, come on in!! Also, please accept my gratitude for posting so many reassuring and informative notes about VEDS. I wish you had been able to go on to medical school as you dreamed of doing. Best wishes for a long and lovely life!! Stephanie

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Is there any connection with the bright blue eyes? My 3 adopted kids have strikingly beautiful bright blue eyes. People alway comment on them. At least one of mine appears to have VEDS, possibly all 3. Two of them (the boys aged 8 and 11) have very translucent skin on their chests and very visible veins. They both have prominent veins on their hands and feet and their hands and feet look prematurely aged. My 11 year old had pyloric stenosis as an infant. I, too am worried about the Dx, but knowledge is power. My dilemna is trying to find a medical professional who has an ounce of knowledge about EDS OR finding one who will give me a referral to someone who does have experience.

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Happy Saturday right back at you! What's left of it! My 9 1/2 yr. old niece came to visit today (blonde hair, blue eyes). I noticed she has the same shaped hands as my son (no knuckles showing) and the usual livedo reticularis. Her mom is my hubbby's youngest sis (8 kids, he's 1 and she's 8). She is the one who is deaf with neurofibromatosis, a sunken chest, different colored eyes, and clubbed fingers. I find myself examining all his relatives lately (although I try to do it so they don't notice). Too funny. Thanks for the smile you brought me today with your sunny disposition, I needed it! LOL, too! Kelly

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Diana,
Boy, we sound like EDS sisters! Your geneticist is correct...despite the fact that your test for vascular type came back negative, the most important thing is your symptoms...as long as you know how to deal with those, that's most important. I don't have a lot of respect for medical tests, because often they come back as "normal", when the symptoms all say you obviously have the problem you were tested for. I am in that category for sure. One time, i was in the hospital, very ill from gall bladder symptoms, yet all tests, EVEN A SPECIAL ONE JUST FOR GALL BLADDER DISEASE, came back "normal" just a day or 2 before being taken to the operating room for an emergency exploratory operation, where they found MY GALL BLADDER WAS FULL OF SLUDGE, BLACK IN COLOR, AND NOT WORKING AT ALL. It had shut down and was becoming necrotic. I had a temp a few days before of almost 105!! They had to pack me in ice, and wait til I came to, and the fever came down before they could operate.
Also, my thyroid testing came back normal, and that too, was very off...I had HASHIMOTO'S Thyroiditis. Turns out, that needed a special test that they didn't do until I actually found an article about hashimoto's, and had them test for it. THAT came back as having hashimoto's, FINALLY!
Well, sounds like you're in good hands. I hear Dr Francomano is exceptional...a real expert, so I am very happy for you. I also have a wonderful team here in the Chicago suburbs, all who are very well versed in EDS, so I am also in good hands! God Bless, and please do keep in touch!! It's nice to have other EDS-ers to talk to!!
Wendy

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