juliegee Posted May 7, 2008 Report Share Posted May 7, 2008 Hi All,I hate to dump, but I'm absolutely terrified. I've been doing some reasearch re. my son as he continues to have problems. Dr. Rowe (at Hopkins) keeps on mentioning Ehlers-Danlos as a possibility for Mack, but he he hasn't been able to pinpoint which type. Mack has some characteristic of each. Upon researching my family history, I've come to realize that TWO of my younger brothers have survived various aneurysms. Lee had an aortic in his late 20's and Mike had a cartoid dissection is his late 30's. By the miraculous hand of God both have lived. On top of my mast cell issues, I've been having continuing vascular problems too...now I'm starting to connect the dots and it's terrifying. This is the type of Ehlers-danlos that can kill instantly.Besides my family history, I've had recurrent vascular blow-outs with little provocation. The latest example occurred when my dog stepped on my foot and a ping-pong sized lump/bruise occurred instantly. I've also had lots of weird hospitalizations with various strange vascular occurences involving strange blow-outs. Unfortunately, I'm not jumping to conclusions or imagining things. The evidence is pretty strong. I've just written to Dr. Rowe and am awaiting his reply on what our next steps should be. Please keep me in your prayers. I was heading to Brigham and Women's this summer to see a Masto specialist. Maybe they can do more testing for this while I'm there or search for a link between the two.....I just did a search online and the average age for a Vascular Type to live is 48 y/o. I'm celebrating my 46th B-day next month. SCARED!!!!!Julie Quote Link to comment Share on other sites More sharing options...
mkoven Posted May 7, 2008 Report Share Posted May 7, 2008 Vascular eds is one variety there is a test for, so you could get it confirmed/disconfirmed. I had a skin punch biopsy a couple years ago, which was negative. The main thing you want to stay on top of with any type of eds is aortic root dilation, through an echocardiogram.I'd check out www.ednf.org, where they have a lot of good information. Easy bruising is a hallmark of most types of eds. And I believe life span is normal in other types. I think they are finding more crossovers between the types though. Quote Link to comment Share on other sites More sharing options...
MightyMouse Posted May 7, 2008 Report Share Posted May 7, 2008 I believe that Dr. Claire Francomano is one of the docs who could potentially help differentiate the disorders for you. http://www.gbmc.org/genetics/harveygenetic.../francomano.cfm (also affiliated with NIH)or Nazli McDonnell, MD, PhD, National Institute on Aging (NIA) at NIH Quote Link to comment Share on other sites More sharing options...
juliegee Posted May 7, 2008 Author Report Share Posted May 7, 2008 Thanks for your suggestions, guys. I just heard from Dr. Rowe and, unfortunately, he's corrorborated my fears. He's linked me to the genetics team at Emory in Atlanta or he wants me/Mack to get to Hopkins ASAP. SCARY.Julie Quote Link to comment Share on other sites More sharing options...
Maxine Posted May 8, 2008 Report Share Posted May 8, 2008 Those two doctors Nina mentioned are very good. I saw Dr. McDonnell during the EDS study at NIH just recently.Unfortunately, different types of EDS can have problems with the aorta also, so tests are always done to rule this out if you have a good EDS doc/geneticist. Even though I have classical type EDS with hypermobility, I still have vascular INVOLVEMENT. Definately have a good EDS specialist/geneticist check this all out.Maxine :0) Quote Link to comment Share on other sites More sharing options...
mkoven Posted May 8, 2008 Report Share Posted May 8, 2008 Just to echo what others say, there can be vascular involvement with different types, but vascular eds (I think) is one of the more unusual types. I think , from what I've read on ednf.org. the vascular involvement in non-vascular eds is still associated with far fewer risks than vascular eds. But definitely get it checked out by a geneticist very familiar with connective tissue disorders. I've heard wonderful things about McDonnell and Francomano, both of whom are on the cutting edge of eds research. Quote Link to comment Share on other sites More sharing options...
deucykub Posted May 11, 2008 Report Share Posted May 11, 2008 Hi, Julie:Hang in there. I'm so sorry that you are feeling frightened. Even if you are diagnosed with EDS Vascular Type A, remember that knowledge is power!!!If I understand and remember correctly, the vascular complications, such as dissection, are much more dangerous to those who are undiagnosed prior to an incident. If this is a reality in your life, it is a very good thing that you are recognizing this now and seeking a diagnosis. You are empowered because you will know to take certain symptoms very seriously, and doctors will respond promptly to those symptoms to keep you out of harm's way.I know it's not much in the way of feeling more secure, but you are an amazingly intelligent and strong woman, and those qualities will be major assets to you in preventing serious complications should you receive this diagnosis.You will be in my thoughts. Please keep us updated, and don't hesitate to "dump." That's what we're here for! Quote Link to comment Share on other sites More sharing options...
MightyMouse Posted May 11, 2008 Report Share Posted May 11, 2008 BTW, EDNF used to offer a free emergency info pack that addresses vascular emergencies--I can't pull up their page right now, but it was www.ednf.org and the emergency info was a click through link on the top right corner of their main page.anyone have an alternate address? Quote Link to comment Share on other sites More sharing options...
juliegee Posted May 26, 2008 Author Report Share Posted May 26, 2008 Deucykub,Thank you for understanding this at an emotional level. Your comments mean so much. You are right knowledge is power, but this may be knowledge I'm not ready for.... Mack and I will be seen by a genetic team at Emory on June 5th. In the meantime, I feel like I'm walking on eggshells. EDNF is back up and running (after a brief shut down.) I've learned alot there, but there aren't many vascular types DXed and almost none my age- a bit disconcerting. we'll let you know what we find out.Julie [ Quote Link to comment Share on other sites More sharing options...
Rachel Posted May 26, 2008 Report Share Posted May 26, 2008 Julie,I'm sorry about this new possibility. It's always hard to get such a diagnosis. I will be praying for you and your son as you see the genetic team at Emory next week. I hope that the doctors are kind, thorough, wise, and that you and Mack will be able to get some clear answers. Hugs,Rachel Quote Link to comment Share on other sites More sharing options...
flop Posted May 26, 2008 Report Share Posted May 26, 2008 Hi Julie,another source of support would be the forum on the UK EDS Support Group (there are a lot of international members). The site doesn't have as much information on the main pages as EDNF but it does have an active forum with general areas and sub-areas for vascular EDS, Kids corner, young persons corner (sorry can't remember how old Mack is now) and one for parents of EDS children. It may be a good place for you to meet others in your situation and get some support whilst going through this worrying time.Flop Quote Link to comment Share on other sites More sharing options...
MomtoGiuliana Posted May 26, 2008 Report Share Posted May 26, 2008 I can understand your fear. You are under some of the best care possible in this country and you will be armed with knowledge, after evaluation and diagnosis. Take care, Katherine Quote Link to comment Share on other sites More sharing options...
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