Mechanical Valve and recently dx w/ VEDS (Vascular Ehlers-Danlos Syndrome)

[deek]

Hi ALL. Haven't posted in a while. Things have been interesting to say the least. Last year I was dx with both Arnold Chiari Malformation (had brain and spinal surgery) and VEDS, Vascular Ehlers-Danlos Syndrome, a connective tissue disorder, and the worst for of EDS at that. VEDS has an average lifespan of 45-48 (I'm 40) and most die from spontaneous rupture and/or dissections, particularly in areas rich in collagen III, like the aorta, as people with VEDS are highly deficient. Upon my dx, I was referred to a vascular surgeon who ordered full body CT scans and the one of my thoracic aorta revealed multiple penetrating aortic ulcers and aneurysms. This is quite common in VEDS and the dx needs to be treated differently than in the average person as my vascular system has been described to me to be like wet tissue paper. Despite this, I have had multiple OHS's, invasive procedures, brain and spinal surgery without incident. I did have one vascular incident, my left subclavian vein burst and fell apart during a PM/ICD extraction and I almost died. Many of my complex issues such as malignant hypertension have been solved with these two dx's. The chiari malformation was causing the malignant hypertension; it's called the "cushing effect" and is communing seen in Chiari due to severe brain compression.

The situation I am now is a desperate one. I need advise. Any and all thoughts, opinions would be welcome as not much is known about VEDS - there are only two doctors in the country who know of it and they have 2 year waiting lists, there is no cure and no treatment. Just prevention. This is what I'm trying to figure out. My cardiologist and I both question and are seeking a surgeon to operate (few doctors will touch anyone with VEDS) to replace my mechanical valve with a tissue or perhaps an ON-X valve (I don't know much about this) so I can go off a massive dosage of Coumadin (30mg, was 65mg before brain surgery). This, to me and her, seems like a reasonable action to pursue given my fragile vascular system and high risk of rupture and/or dissection. Especially with documented weakness of the aortic wall already. I currently am awaiting a surgical opinion from a Dr. Marc Sakwa at Beaumont Health System in Royal Oak, MI and I'm sending out my records, films, CD's to Dr. David Adam's at Mt. Sinai in NY. As I mentioned, I'm desperate here but I don't know if anyone will take the risk with me here, already having multiple OHS's and VEDS. However, as my neurosurgeon pointed out, I've had this all along and I've faired very well given all my surgeries and procedures but with VEDS, my clock is ticking and the best preventive measure I see is going off Coumadin. I'm 40 and have a 7 year old daughter. I want and long to be around for her as long as possible.

 

[Lynlw]

I am sorry to hear this, I know you had problems and questions a couple years ago, but its heart breaking that the answers came with such a tough diagnosis. The fact your baby is only 7, I really can't begin to imagine what you are going thru.

IF you want to get off anticoagulants,( which makes perfect sense) I would definately get a tissue valve, with the ON-X, you would still need anticoagulants either coumadin, ( and since it is Mitral, most likely at he higher end of the INR range, compared to if it was aortic). just a slightly lower INR or in trials plavix and aspirin, The trials won't be done for a couple years, (and im sure you wouldnt be a candidate for the trials) they just finally got enough people for the plavix arm so no results available so far, but the 400 people in the lower INR arm, the 200 people w/ the lower INR had less bleeds and more clots than the 200ish people whose INR was the normal rec, but they had more bleeds but less clots. the total number of "events" were about the same.. I am pretty sure that all the patients are also on Aspirin beside the prescription Anticoagulant. I also believe some people arent candidates for plavix and there are also quite a few bleeds
There are NO trials w/ ON-X and no anticoags, the only one in Germany a few years ago that i think was just aspirin was stopped when there were deaths from clots and strokes. It makes perfect sense to want to get off anticoags with the risk you have for bleeding.

IF I were you or some one I loved were in your position, I would also contact the best CHD/ adults with CHD centers. I know they probably dont have much experience w/ VEDS but Im pretty sure they would have not only experience w/ Arnold Chiari Malformation ( I know of a few children who were diagnosed pretty young with it, and the CHD surgeons, are the ones who have the most experience w/ people with Multiple REDOs and the higher risk most complex heart surgeries. I personally would contact both CHOP / U of Penn and Bostons children they are usually ranked the top 2 by quite a bit. They also are very good at getting you in for opinions pretty quickly in our experience. Both centers operate on the highest risk patients who other hospitals refused to touch.

Beside the great Heart center, CHOP and Boston also rank among the best for all the other divisions you might need like the Metabolic Disease Section I just did a quick search at CHOP site for Ehlers-Danlos Syndrome and quite a few things came up So it seems they have more experience than i thought. Its worth contacting them and see what they have to say. Ill see what I can find a Boston childrens too
http://www.chop.edu/search-results/...getfields=*&filter=p&entsp=a__internet_policy

Again I am really sorry to hear all you are going thru. HOPEFULLY since you were diagnosed now, they will be able to help you so could have a longer life than someone who was not diagnosed. I hope you dont mind but Ill keep your family in my prayers.

ps since you havent read this yet I'll add more info I was looking at different doctors at CHOP,& U of Penn, they are next to each other, but owned by different groups, however they work really well together with many of the same staff. as a plus you tend to get the best of research for children's issues and adults. I would probably call CHOPs CHD surgery department to get the things moving in case you have surgery there. For the most part from people not close, they can start a opinion just from all the records and disks and CDs of your most recent tests, before you decide to go there to talk to the different surgeons and specialists.

But would also call Metabolic Disease Section I noticed Doctor Kaplan http://www.chop.edu/doctors/kaplan-paige.html list ED syndromes as ne of her interests.

 

[njean]

So very sorry to read of the struggles you are going through right now. No wonder I've had you on my mind all this time!

I concur with Lyn in you contacting CHD centers to see if and what they can offer you.

I know how difficult it is when they tell you that they "just" want to watch you but you must NOT give up! You have too much to look forward to!

Keeping you in my prayers....please keep in touch!

 

[ottagal]

Deek,
I am so sorry to read of your recent struggles with this new diagnosis. I wish I could provide you with some suggestions as to where to go for treatment etc. Lyn has provided with you with some centres to contact. . Please know that I am thinking of you and keeping you in my thoughts and prayers.
I agree with Noma that you must NOT give up!

We are here for you. Sending you a cyber <hug>.

p.s. Here is a link to the ED National Foundation. I am sure you are aware of it, but just in case there is something that might be of help, I thought I would post the link.

http://www.ednf.org/

 

[deek]

Thank you SO much Lyn, Norma and ottagal. Thank you Lyn for a suggestion I never thought of. I'm so glad I came here. This place and you all are so great. I have seen a surgeon at Beaumont Hospital in Royal Oak but I didn't get the feeling he would operate; however, he hasn't said no. He needed to see my CT films and I've since wrote him a letter but he didn't seem to know a whole on VEDS as he didn't understand why I see this as being a threat. Umm? Hello! And he said the risk of surgery would be great. I still haven't received an official no but just sent all my records, films and letter to Dr. David Adams at Mt. Siani. I feel so lost with this disease. No one knows much about it. Only two doctors in the country that do are out east and have a two year waiting list. There is no cure, treatment, help. I just feel as if I'm left here to die. You are right Norma, I can't and will not give up. After all I have been through...it can't come to this. My girl needs me. But the hardest part of it all is that there is a 50/50 chance that she has it too...both Chiari and VEDS. The symptoms are showing. I have to get her tested too. God, if she is spared I will be happy. Again, many thanks and I will look into CHD centers. Thanks, Lyn! I hope you, your son and all of you are doing okay. Especially you Norma. I think about you much. Dee

 

[Duffey]

Dee, I know next to nothing about your diagnosis, but I wanted to say that you are in my thoughts and prayers for the duration.
Mary

 

[deek]

I just sent a letter via email to one of the cardiac surgeons at CHOP. I will keep you posted. Thanks again, Lyn!

 

[chaconne]

Deek,

My heart goes out to you in your situation since I was diagnosed with stage 3 Melanoma 5 years ago and faced the possibility that I would not be around long for my 3 children or wife. I faced a lot of intense emotion regarding my kids and the prospect of leaving them without a father dominated my grief. I'm still here and am grateful to Jesus Christ for allowing me to live. In your situation tissue sounds like the right way to go. I have an On-X Aorta valve but still need Warfarin at this point. Your situation will be in my prayers and is also dear to my heart.

-Steve

 

[Lynlw]

I just sent a letter via email to one of the cardiac surgeons at CHOP. I will keep you posted. Thanks again, Lyn!

Good I hope it helps, if it matters Dr Spray was Justin's surgeon the past 2 OHS.(4 and 5) http://www.chop.edu/doctors/spray-thomas-l.html He needed a new surgeon /hospital and for several reasons we knew he was higher risk, (we knew from caths his heart was fused to his sternum, making opening his chest more dangerous than most REDOs) I spoke to several CHD surgeons around the Country, You can feel free to give them my and Justin's name, Its been a few years, but im fairly sure he remembers Justin.

 

[Agian]

... thinking of you.