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Question for Dr.Diana
Posted: 18 April 2015 02:28 PM   [ Ignore ]  
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Hello Dr.Diana,
I am new to all of this as a diagnosis but have been living with these symptoms most of my life.  Up until now I had accepted the labels I had heard about myself.  Hypochondriac, etc.  I was a ballet dancer from the age of 3 and went on to excel in it and other forms of dance.  (I’m sure now this had a lot to do with eds)  My exceptional flexibility and “clumsiness”  led my mom to put me in ballet hoping I would acquire more grace.  I did while dancing but still tripped on microphone wires on stage while walking…  (Embarrasing!)

I happened upon a story on 20/20 with Daniel Browning Smith last month.  That was how I first learned of EDS.
I have had many “weird” medical things happen to me all of my life that nobody else ever heard of.  I cannot tell you the shock I was in for as I read the symptoms of EDS. Those “weird things” I believed only happened to me were part of this condition.  While I was not happy it was a possibility I had EDS, it was strangely comforting to know I was not alone.  Unfortunately, as I was recognizing the symptoms in myself, I was also realizing my 3 daughters all had symptoms as well.

When I found your videos on youtube as I began to research, it was incredibly reassuring.  You have a very soft, warm and empathetic quality and your medical research and knowledge are incredible.  I’m sure one of the things that drives you is finding answers to your children’s obstacles as well as your own.  I commend you on that dogged determination and instinct in finding the Driscoll Theory. 

I contacted a geneticist to begin the process of determining what type my family has and diagnosis.  The process seems quite long and I am in a situation I would truly appreciate your opinion on.

My teenage daughter has a torn tendon which also pulled off (broke and fractured) part of the bone with it.  She is in sports and continued to walk and even run on it! We had 2 misdiagnoses over the past 12 months where dr said it was “just a sprain”. She has received a huge amount of criticism and disbelief that she is hurt from teammates and even the coach.  This is very emotionally painful to her. She never quits and vows everyday with a smile to make a comeback from all this and make everyone on her team proud.

Last week after learning of the extent of her injury, we also had a diagnosis of hypermobility syndrome from the orthopedic surgeon.  I spoke to him about EDS and told him I was in the process of trying to get an appointment with a geneticist so I could know what we are dealing with. He wants to operate on the tendon which is torn in 3 sections as soon as possible.  He even said he would consider using a cadaver tendon to help with joint stability.  He wasn’t comfortable saying it was EDS, but diagnosed HJD.  He also encouraged me to get the testing.

I am hesitant and quite honestly scared for her to have the surgery because we still do not know the extent of our EDS.  We do have traits and issues that could be associated with type 4, as well as all the classic and hypermobilty symptoms and a beighton scale score of 9 for me and 7-8 for my daughter as diagnosed by surgeon.  My daughter is having significant pain and urgently wants the surgery so she can recover and play again.

My question is, how quickly could a diagnosis be done so we can know she would not be at risk for vascular issues during the surgery? Is there such a thing as rushing this process? I just learned EDS existed in the past month, so I am trying to get a handle on how to best protect my daughter.

Thanks for all you do!

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Posted: 20 April 2015 02:43 PM   [ Ignore ]   [ # 1 ]  
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Tough question! All disclaimers in place, OK? Certainly, I am not an orthopedic specialist, right? Having said that, I will share with you some thoughts. Many of us (if not all of us!) have been afraid of having the vascular form, but most of us do not. You say you have some features—it is important to look for features AND review your family’s history. Any vascular dissections, aneurysms, etc? I could be fairly certain I didn’t have the vascular form purely knowing I was still alive (most people my age would have already suffered a fatal dissection, old-timer that I am). Genetic testing for vascular still takes time, but you could ask a geneticist if they could rush it. Honestly, risks of vascular problems are significant in organ surgeries, but my gut feeling is, less so for an ankle. If there WAS a vascular rupture at her ankle (Heaven forbid), I doubt that would be life threatening and the doctors could likely repair it. Because I don’t *think* a ruptured tendon can go forever without being fixed, can you discuss your fears with the doctor so they can be ready for vascular weakness, should it be a part of her condition? Knowing the doctors were in place prior to surgery could be very reassuring. I think the bottom line is open communication about your fears, and honest discussions of risks/rewards. Please keep us posted, and I wish you the very best in getting your daughter the help she needs. Meanwhile, I think I can speak for everyone here—she is not alone in facing disbelief in her condition. WE believe! wink

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Dr.Diana, therapeutic optometrist disabled by EDS/POTS/ME/CFS for a decade, now recovered and practicing full-time at POTS Care cheese

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