Dx still on the fence

So, I was told by a geneticist, a few months ago, that I did not have EDS. She told me I had instability in my joints, and then proceeded to ask me why I wanted the dx since there was no treatment for EDS.
Since then, my mother has been dx-ed with type III EDS. The head rheumy at Vanderbilt took one look at her and dx-ed her immediately.
We are in the process of trying to get my 18 dd a firm dx as well (which is why I tried to get my diagnosis- to make a positive family history for her), and we are getting very frustrated with caregivers who will not think outside of the box.
I am sure that I DO have EDS, but w/out validation I feel somewhat like a lurker, lol!
I was just told by my husband's boss, who is a hand specialist Physical Therapist, that I have a TFCC tear in my right hand. Last year, an ortho surgeon told me I have a SNAP lesion in my left shoulder. I have subluxing shoulders, wrists, thumbs, hips and feet, but I am low on the Beighton scale. Of course, it doesn't help that I've had surgery on my elbow, and my wrists hurt too bad to move in ANY direction. I can put my hands flat on the floor with no problem at all, but the geneticist didn't even ask me to do that. All she did was take a short history, and then feel my skin and try to bend back my bad wrist. She also neglected to actually LISTEN to my history b/c when I got back the report, she had listed hernias as a negative, even though I gave her the report from my endoscopy with a hiatal hernia mentioned.
Did I mention that I'm frustrated?
For further introduction, I have 6 children, one of whom has a severe neuro condition. I was accepted into medical last year, but have since decided that I could do more good for my children by staying home with them- part of the reason I had wanted to go was to try to get them (and myself) proper medical care by having the right connections and the "know-how".
I love that so many of you have taken upon yourselves to read and study the info that's available, since it appears that many medical professionals fail to do this part of their job descriptions.
Look forward to learning from you all!

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Hello Crazies8 and welcome!

I look forward to getting to know you too! I am sorry for your experience.

The genetecist was wrong when she said there are no treatments for EDS...there is preventative care (especially with children who haven't yet mucked up their joints), special physical therapy, pain management options, bracing and mobility options, household items to ease living and strain on joints, etc. If she meant there is no cure, then she is correct...but that does not mean you don't treat the symptoms.

There are about a gazillion genetic conditions and it is not reasonable to believe every genetecist will be intimately familiar with every one of them. Even in the field of genetics, practitioners often specialize or have interests in certain areas. You need a genetecist adept with Connective Tissue Disorders. There are very few true EDS experts in the world, but if you are willing to take a short trip, you are not too far away from Dr. Francomono and Dr. Levy in Baltimore. The wait for either is extremely long (scheduling into late Stpring/early Summer of 2013 now), but the wait is well worth it. If you choose Dr. Francomono, she does work with a pediatric genetecist who could assess your children.

btw, the Beighton Score is but one small part of the diagnosing process which includes a complete clinical examination, medical history, and family medical history.

btw #2, the numerical system (Type I, II, III, IV, etc.) was stopped in 1997 in favor of the descriptive names (Classical, Hypermobility, Vascular, etc.). If you have a doctor (or your mother's doctor) saying Type III EDS, that is a doctor who is dangerously behind in current research of this condition. Likewise, if you are reading research articles or other information about EDS, the use of the Roman numerals are a red flag that the information is out of date. EDS Type III is EDS-Hypermobility type (sometimes abbreviated amongst ourselves as HEDS) and if that is the type your mom has, then the is the type she would pass to her children (50% chance).

Gentle hugs...

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I'm counting down the days to see Dr Francomono in October! Dr Henderson referred me (neurosurgeon) & he's 85-90% sure I have EDS, but he wants her to see me. When I called to schedule, I had things I had to get done before she would agree to even see me (eye exam, cardiac echo, MRI/CT reports to gather). I'm 100% sure I have EDS - and not only do I want the diagnosis for my mental health, but I want Dr's to not be so ignorant to me. And preventive care would be great. SSDI would be even greater (I've been denied twice & out of work since 2010). Good luck for you. Since she's the first EDS geneticist I'll be seeing, I don't have any tips. sorry :(

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I am unsure of where Hurricane WV is relative to where I live but I got my DX in Roanoke Va. The geneticist specializes in pediatrics but I was 27 when I went to her. She was young and pretty current with her knowledge of EDS. Let me know if you think Roanoke might be a possibility.

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I was diagnosed by two of my general practitioners which is how I got the referral. I am being seen at the Cincinnati Children's hospital. And I am terrified that the geneticist will not agree. My initial beighton score was a four, but he also was going off of pictures (I had a resident, it was actually quite adorable to see him learning and excited to have thought of it) and his supervisor agreed with him. But I am strong in my belief of a 7/9 minimum. I also have swan neck fingers, which is kind of creepy but not shown to doctor. And I can jump rope with my own arms (or I used to, have not tried in years). After years of being ignored and turned down for things you get that insecurity with doctors thing going.

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Thanks for all of your support! It's nice to know we are not suffering alone (thank goodness for the world wide web). Roanoke is a possibility- I grew up in SW Virginia!
I don't really require a dx for myself- I KNOW I have hypermobility and instability. Plus, my husband is a PT and he has finally realized that I'm freaky and require special care when I have PT issues. My main goal is to establish a good treatment plan for my children. My 18 yo daughter has SO many issues, but many of them are related to dysautonomia. This is hard to prove to doctors and they are so hesitant to treat her as such. It's crazy, but most dr's that I have worked with would rather believe that there are 4 and 5 issues going on at once, then to find the umbrella dx under which all the symptoms fit. Occam's Razor anyone???
She has bipolar, anxiety, severe sleep disturbances, constant joint pain, severe adhd, tachycardia, low blood pressure/high blood pressure, dizziness, constant headaches, and irritability to the point that she's been dx-ed with intermittent explosive disorder. I just want to get her proper care so she can function (she is a hs dropout and keeps quitting her jobs).
I won't even go into the issues of my younger children, but if I could get ONE of them properly diagnosed, I could have some hope of a better quality of life for each of them.
Just last week, my 18 yo was experiencing breathing issues, especially while running (severe pain, couldn't get her breath). After steroids, breathing treatments and a chest x-ray (normal), I finally checked her ribs, and sure enough, several of them had subluxed and were point tender. Now I'll know better then to let her get medicated and tested for that issue!
Thanks for the referrals- gives me another place to start!

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Dr. Emily Doherty at Carrillion Community. 540-985-8454. Good luck!

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UVA Genome Institute in Charlottesville has a geneticist in EDS and a pediatric one too.
Here is the link to Pediatric Genetics at UVA. I was just searching for the Adult program on EDS which I found before but can't locate it right now. I'm sure the Pediatric docs can lead you to them.
Mei Mei

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