Just diagnosed with EDS

[Susan]

I went to a rheumatologist today and based on my history, past surgeries and characteristics, was diagnosed with Ehlers Danlos Syndrome. He wasn't able to tell me which type, because I have characteristics of more than one type. He suggested I go to a hospital in Cincinnatti that specializes in EDS. He also said that I could have genetic testing to find out which type I have.

It all makes sense now. I suspected I had it. But now I know for sure. I have had a hernia in just about every place you can imagine beginning at age 2. When I had my mitral valve repaired, it ended up tearing while I was still in the hospital. Five days later, it was replaced with a mechanical valve. My surgeon said that I had a myxomatous valve.

I have joint hypermobility, flat feet, a high arched palate, a widened sternal scar, and skin laxity. I've had bilateral inguinal hernias, an umbilical hernia, a uterine prolapse. Just three years ago I had a cystocele, rectocele, enterocele repair and also a bladder suspension. Now three years later, I have the cystocele and enterocele again. I have pelvic floor prolapse. I was to have surgery on December 2nd to correct these problems. My rheumatologist said I shouldn't have it because, with a diagnosis of EDS, my tissue probably won't hold. I'm only 44.

He also said that I'm at risk for an aortic dissection. I have an aunt that had an aortic dissection that survived her surgery. I have a sister that had a subarachnoid berry aneurysm and survived her surgery, as well. I feel like I'm a time bomb. The doctor said I need to have an ultrasound of my aorta. I worry because my Dad has had both a mitral and aortic valve replacement. His ejection fraction is only 16%. I worry if his problems are from EDS, especially his cardiomyopathy. I know he would be the parent that I got the gene from. I also have 2 children-(one grown) that are now at risk for this.

If anyone has EDS and has any insight, I'd like to hear from you.

Thanks,

 

[mlkyle]

we are thinking of you...

we are thinking of you...

Dear Susan,

I have a two year old son with bicuspid aortic valve and a mild dilated aortic root. Just found out my four year old son also has an outpoking at the same area on his aortic root as my two year old....

My immediate advice to you is: GET YOUR VALVE TESTED AND YOUR CHILDREN!!!!!!!!

We are all learning at the same time how to deal with these "connective tissue diseases."

We are here for you...

Love,

Julie...Taj and Kyles mommy.

P.S. I saw that we are the same age...36 right? That makes my heart reach out to you even more...please keep us posted...

 

[Susan]

Just diagnosed with EDS

Julie,
I'm sorry to hear about your sons. I'm sure you have a good doctor that will keep a close watch on them. I can only imagine how scary that must be for you and your family.

My mitral valve has been replaced already. Luckily, I already had a scheduled appointment with my cardiologist. So, I will talk to him about this. Now I worry about my other valves. My last echo was good, though.

My 17 year old son had an echo about a year ago and his valves were fine. However, my other son who is 21, has never been tested. Neither of my children have ever had a murmur. My oldest son is classic Marfan looking.
6'2" very thin and long fingers. He would be the one I worry about. I know EDS is not Marfan's, but it makes me wonder.

I'm actually 44, but had my surgery at 36. But my heart reaches out to you too, because we have this in common.

Thanks,

 

[Maryka]

I had to read this because I had forgotten what EDS was. I had been diagnosed with Marfan Syndrome by Hopkins geneticists in the early 90's, then demoted to "Marfan-like" as the Marfan criteria were tightened up. Of course, I have most of the fun connective tissue things you describe. My son has very few of the symptoms, but my daughter got lots of the stuff--all from the waist down. As I have written here before, geneticists had used her before to demonstrate that she has "Marfan feet" even though she does not, technically, have Marfan syndrome. I am sorry she has so many connective tissue problems (most of which I DO NOT have), but I am glad she does not have the heart problems.

My opinion: there is a lot they do not know about where Marfan runs into EDS runs into BAV/aneurysms runs into the new syndrome that good old Dr. Hal Dietz lent his name to. (Dietz used to speak to my Marfan Support Group I ran in the early 90s.) We all must be vigilant because any combination of symptoms can manifest themselves for those of us with connective tissue problems.

You are in my thoughts and prayers!

 

[ALCapshaw2]

Susan -

I had no idea what EDS was so I contacted someone I know who is familiar with BAV / CTD about your situaion. Here is a copy of the response I received (with permission to post annonymously).

Quote:

I've come across Ehler Danlos Syndrome in my reading. It is one of the known connective tissue syndromes that are associated with heart problems. It must be pretty rare. It sounds like a very unfortunate thing to have, similar to Marfans.

It sounds like her doctor is giving her good advice to go to a larger center, where she can get more specialized expertise.

It also sounds like good advice for her to get genetic testing to confirm the diagnosis. For the doctor to say that, it means that he's not jumping to a conclusion. He wants her to get evidence of the disorder. She might be able to get genetic testing and counseling in Little Rock at University of Arkansas for Medical Sciences. http://www.uamshealth.com/?id=482&sid=1 On this link, it looks like the UAMS genetics clinics specialize in two things: cancer and prenatal diagnosis of other diseases, neither of which is directly relevant to her situation. She can at least contact them, though, and see if they can help her. I bet they can at least do the testing, and maybe there are even some professionals with EDS expertise in Little Rock. She'll just have to check.

As far as other places where this lady can seek help, I see on the map that she is right on the Missouri border. She has a pretty straight shot to Kansas City -- maybe about four hours' drive, and it's freeway most of the way. It's about the same distance for her to go to KC as it is to Little Rock, and KC is a bigger city. If the lady can find an EDS specialist in KC (or in Little Rock, for that matter), perhaps she could go there on a regular basis and actually be followed, whereas she might be able to go to Cincinnati only once -- or not at all.

If she needs surgery, St. Louis isn't too much farther away than KC, so she could consider Dr. Kouchoukos also. You might refer her to vr.com member csutherland, whose husband is being followed by Dr. Kouchoukos.

If travel to Cincinnati isn't a problem for her, and if there is an EDS expert there, then she should probably just follow the course that her present doctor has laid out. I don't know anything about EDS and I don't know what the resources are for it in Cincinnati, but presumabley the doctor does. For all I know, Cincinatti could be a huge national center for EDS. Or maybe the doctor just knows someone there, which still isn't a bad thing.

End Quote

 

[Susan]

Just diagnosed with EDS

Maryka,

Thanks for repsonding. Since Marfan's and EDS are so closely related, I really wonder which one I have. When you read about both, their charactertics are almost overlapping. But my rheumatologist said that I have EDS.

As I told Julie, I worry about my sons. I went to my cardiologist Thursday and told him about my new diagnosis. He was suprised, but it all made sense. One son has had an echo over a year ago. My doctor wants my older son echoed very soon. My cardiologist does think I need to go to either Cincinatti or possibly go the med school in Little Rock.

I am going ahead with my female surgery on December 2nd, though. My gynecologist felt confident I can be repaired without any tissue complication. After I'm over my surgery, then we will proceed with EDS testing.etc.

What do your daughter's Marfan feet look like? I'm glad that your children don't have your heart problems either. My oldest son is so worried about this because he already has ulcerative colitis and doesn't want something else to worry about.

Thanks,

 

[Susan]

Just diagnosed with EDS

Al,

Thanks for checking with your friend. I appreciate their advice. I had an
appointment with my cardiologist and he wants me to go to Cinncinati or try Little Rock for testing. I hadn't thought of Kansas City. That's about 3 hours from where I live. I'm having female surgery Dec 2nd and go in the hospital on the 30th. (I don't have a INR monitor yet). After I'm over my surgery and all, my cardiologist said we will work on getting EDS testing. I am having an echo Tuesday, though.

Please tell your friend thanks for me.

 

[Maryka]

I know there is a lot of crossover with EDS and Marfan. In the early 90s when I was diagnosed with Marfan (later rescinded, of course) and I used to go to the yearly Marfan Foundation conventions, there were EDS folks who attended the Marfan conventions. They seemed to have problems with things just "popping out." That is, lots of hernias popping out and joints just coming out of sockets. But, EDS has a broad spectrum of sub-types. Some folks suggested that if I did not have Marfan, maybe I had EDS, but I never found a good fit there.

My father, who never had an aneurysm, was the source of most of my connective tissue problems. He was quite double jointed--even able to do double-jointed tricks with his fingers in his 80s. He was the source of my long head, narrow jaw, high pallate, long fingers and low arches. I could do a lot of his double-jointed hand tricks but now that I have entered my 60s, my joints seemed to have lost a lot of their double-jointedness and are becoming afflicted with arthritis pains and problems. But I digress...

My feet seemed to settle on being merely "low-arched" in my early adulthood, but my daughter has amazing feet. My father had 100 percent flat feet, which is common among Marfan people, etc. His feet never caused him any pain, however, and his back did not seem to hurt due to his having no arches.

My daughter has narrow feet that show huge, normal arches when she is sitting on a doctor's examination table barefooted. When she hops off the table, however, her arches totally collapse into flat feet. This is what got the geneticists to parade newbies through to look at. Apparently they think this disappearing arch thing is very typical of a Marfan foot. However, my daughter has none of the now-accepted true Marfan characteristics: No heart or lung involvements. No eye problems, other than some nearsightedness. But her feet, hips, knees and so forth are loose and, supposedly, cause her lower back pains. She has tried yoga and some physical therapy, but only recently found a physical therapist who understands her various problems. (She also had pelvic floor problems since her childbirth a year and a half ago. The new physical therapist has helped her directly address this issue and has given her new, specific exercises aimed at strenghening her inner legs, not just her outer legs.)

Geneticists warned me that I would get arthritis in my knees and hips especially. That has proven true. What a bummer! I was warned to watch out for my hips popping completely out of their sockets, a thought that scares the daylights out of me. (How much pain are all those circus contortionists in, I wonder, as they age? Lots of folks say that contortionists have EDS.)

Anyway, I feel pretty confident that I do not fall into the EDS category, but the treatments are pretty much the same. Cincinnati has a good diagnositic/treatment center for EDS? I did not know anything about that the two years I lived there while getting my Master's degree, ha ha! Johns Hopkins, of course, has excellent diagnostics programs for Marfan and EDS and, now, for the new symdrome that has Hal Dietz's name in it--sorry I forget the name. But, you are a long way from Cincy or from Baltimore.

Please keep us updated on what you find! And good luck with your "other" surgery!

 

[Maryka]

Oh, and I know of a Maryland Marfan guy who had the "rest" of his aorta replaced after an ascending dissection a few years previously by that Dr. Kousoukos in St Louise that someone recommended on this thread. Sounds like a good surgeon.

 

[Susan]

Just Diagnosed with EDS

Just Diagnosed with EDS

Maryka,

I've done alot of research over the weekend. I found an EDS group on Facebook. I made contact with someone who has gone to the Marfan/Ehlers Danlos Clinic in Cincinnati. It's part of the Children's Hospital at the University. But they see adults, too. She said she had a great experience there. She was there about 5 to 6 hours and saw a cardiologist for an echo, a geneticist and clinical geneticist. They got a detailed family and personal history. They were able to determine the Type of EDS. They also advised her as to how to deal with it. Pain management, etc.

After talking it over with my husband, we decided it would be best to go there since no place is really close to where we live. Also, that's the clinic that my rheumatologist highly recommended. I called there and they said I needed a referral and records. I printed out a referral form and took it to my rheumatologist to get the ball rolling. Even if I don't get in until the Spring, at least I can get further testing.

I spoke with my aunt that I thought had an dissected aorta. However, she actually had an aneurysm of her LAD and had bypass surgery. She told me that my cousin who died in her thirties actually died from complications of endocardititis. A clot went to her brain, caused a stroke, coma, then death. My cousin evidentally had "mitral valve problems" and was afraid to have children. My Dad, my aunt's brother had an porcine aortic and mitral valve replacement 3 years ago. He has also had an umbilical and inguinal hernia. My Dad is very tall and thin with a long face. I have a nephew that was born with his chest "caved in". He later had that corrected. My sister told me today he has flat feet. He is very tall and thin, too. My other sister has had a subarachnoid berry aneurysm. She also has a mitral valve prolapse, Lupus and Rheumatoid Arthritis. My Mom is getting upset with me because I'm calling people to let them know of my diagnosis and that should tell their doctors. She thinks I'm scaring everyone. I think they should know.

My younger son has mild scoliosis and is double jointed. He is still growing, but is very thin and getting tall. My older son is very tall and thin. He has the long spidery fingers. As a toddler, his elbow dislocated twice. He has very bad eyesight. He also has ulcerative colitis. In reading on the EDS National Originazation, it said that patient's can have intestinal problems. I think they both may have EDS. My younger son had an echo a year and a half ago and it was fine. My older needs to have one soon.

I still wonder if this is Marfans and not EDS. However, my doctor seemed very confident in my diagnosis, even before he examined me.

I have very flat feet and my feet often hurt. I don't have have pain, though. My doctor seemed suprised that I wasn't in more pain. I get plantar fascitis periodically. I have very bad eyesight, too. I'm having an echo tomorrow to make sure everything is ok. I go into the hospital on Monday to get off my Coumadin. (I don't have a home monitor yet-I'm working on that). My surgery is next Wednesday. I'm worried about it for some reason. It's an open abdominal procedure. This new diagnosis make me a little nervous. I don't know why, because if I can have two heart surgeries, than this is nothing.

Thanks for sharing with me. I appreciate it. I keep you posted as to what happens.

 

[bvdr]

Susan, we had a member years ago named Tigerangelgirl who also was diagnosed with ED. Her journey to come to a diagnosis seemed to take forever. I'm glad you seem to be getting good medical care.

I think notifying your relatives may scare them a little but they really need to have the information anyway. Your mom may be in a little denial...you might have to cut her some slack.

 

[Lily]

Susan, I've been following your thread here -- probably one of many members here doing so -- and just wanted to say you have my best wishes.

 

[Susan]

Just diagnosed with EDS

Betty and Lily,

I was fortunate to be diagnosed on my first appointment with the rheumatologist. Especially when it may take some people a long time to get a diagnosis. My rheumatologist's nurse called me today and said that they faxed the referral and records to the clinic in Cincinnati. I'm supposed to call next week and set up an appointment. It may be along time before I get in, but that's ok. Wow, that was fast.

I'll keep you posted on what happens. Thanks for the your responses and well wishes. It been really hard for me the last week and having people to talk with really helps.

 

[Maryka]

Due to post-menopause bleeding and a "one level below cancer" enodometrial biopsy, I had a complete hysterectomy (including removal of my ovaries) in mid 2007. They did it "bandaid" style. Recovery was very quick and remarkably painless. I hope yours proves equally easy!

 

[Susan]

Just diagnosed with EDS

Maryka,

Several years ago I had a hysterectomy. The surgery is an abdominal procedure to correct a pelvic floor prolapse. I had a less invasive surgery three years ago and it didn't hold. That's why I got to researching Ehlers Danlos. I pretty much had most symptoms or characteristics and presented it to the doctor. He diagnosed me with it before he even examined me. I wish it could be less invasive like yours, but they have to open me.

I go in the hospital Monday to get off of my Coumadin. My surgery is Wednesdy morning. Hopefully I won't be in too long. My cardiologist won't discharge me until my INR is in range. The last time I had surgery I was in for 10 days total. Wish me luck.

 

[Maryka]

My mother had prolapses and the "celes" you mentioned. (She was NOT the parent with the EDS symptoms.) I think that there is a lot of that type of problem among women, especially Caucasian women. Issues with childbirth complicate this. (My mother and I had very large babies which can aggrivate these sorts of problems.) Again, my daughter has help from her Physical Therapist on these sorts of problems. (My daughter's baby was 9 1/2 pounds, in keeping with her mother and grandmother.) Regular Kegels do not seem to help as much as you would hope. I will try to ask my daughter about her special PT work. But, I hope your surgery works as expected!

 

[Susan]

Just diagnosed with EDS

Maryka,

Fortunately, my Mom and two sisters have never had the prolapse, "celes", or hernias that I have had. My Dad is the one that I got EDS from, I believe. He has had an umbilical hernia, inguinal hernia and aortic and mitral valve replacements. All within the last 8 years.

I tried Kegel exercises, and they didn't do anything for me. I was way beyond that. I wish something like that would have worked. On my feet, when I stand, I even have fat that herniates through the connetive tissue and causes these little bumps. I think they are called piozegenic papules or nodules. They go along with EDS.

It will interesting to see what they say when I go to the Marfan/EDS clinic in Cincinnati.

 

[Maryka]

You are really, really EDS--no doubt about it! Please keep us updated on what is happening! If you were where I am I would give you a hug right now (and I am NOT a hugger).

 

[Susan]

Just diagnosed with EDS

Maryka,

Thanks so much for all of the support you have given me! I really appreciate it! I go in the hospital tomorrow morning to get off my Coumadin and onto Heparin. My cardiologist doesn't believe in using Lovenox, so I have to go in early prior to my surgery. My surgery is Wednesday morning. I'll keep you posted.

Thanks,

 

[Maryka]

Female Connective Tissue Probs and Physical Therapists

Female Connective Tissue Probs and Physical Therapists

Gee, there is very little time before your surgery, but I asked my daughter for info on her wonderful Physical Therapist. She says first: don't go to one of those PT places where you will almost never see the real PT. (I myself had that problem when I was sent to a Sports PT place for routine lower back pain). Second my daughter had questionable results from a PT connected to a chiropractor. Finally, she got a recommentation from a happy patient of an Independent PT (not in a group) who specializes in "female physical therapy".

So, if anyone out there lives in the Washington, DC, area and needs a female-specialty PT, I can give you a name. If not, keep looking for the kind of PT my daughter has found.