what should be my next step?

My 16 year old was told last week that she has EDS. She has signs of the classical and hypermobility. All of her symptons make sense now. I took her to her family Dr. yesterday. He has heard of EDS but has never had a patient with it in his 40+ years of practice. He left it up to me to find out what blood work needs to be done on her and what testing she might need. I am lost and I don't really know where to begin. Any advice would be appreciated. ~ Also, my 20 year old is seeing a blood specialist on Friday due to several bleeding complications from a surgery (tonsils removed) he had 4 weeks ago. He has had 2 emergency surgeries to stop the bleeding. What should I be asking him at the appointment? Could this be a sign that he may have EDS also?

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Hello Callie,

Wel,l the next step would be to get an actual diagnosis. EDS's different types affect different types of collagen in the body (there are over 26 types of collagen in the body), so it is important to have a correct diagnosis of which type your family has. The bleeding problems your son experienced are definitely part of some types of EDS and so he will need to be assessed as well. The closest EDS expert to you is Dr. Byers at University of Washington in Seattle. I would set up an appointment for both of your children to be seen by him as he is very good.

Diagnosis is done through examination. An EDS exam for diagnosis probably will include testing skin for what it feels like, how much it stretches; the Beighton Score http://www.hypermobility.org/beighton.php or the newer Brighton Score http://www.hypermobility.org/diagnosis.php for testing hypermobility, taking a look at their medical history to figure out what EDS symptoms they may have shown in the past and whether they inherited EDS. It might also include an echocardiogram if heart or vascular issues are suspected, or other tests depending on the symptoms and doctor.

There are genetic tests for some of the types that can confirm a diagnosis, but can't be used to rule one out in most cases; if you don't test positive genetically, that doesn't mean you don't have EDS. We simply aren't sure of all the gene mutations yet. The exam for EDS is a good, thorough basic physical examination. Classic type has a test that catches more than 50% of cases; Hypermobile type has no test, although there's a possibility at least one of the causes has been identified (Haploinsufficiency of TNXB Is Associated with Hypermobility Type of Ehlers-Danlos Syndrome http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180584/ this is probably a cause of some forms of Hypermobile type). The test for Vascular type is 95+% accurate now; the rarer forms also have well defined tests.

The most common types of EDS (Classical, Hypermobility, and Vascular) are generally inherited in an autosomal dominant pattern. This means one of the parents has EDS and each of their children has a 50% chance of aquiring it. Whatever type of EDS the parent has, that is the same type the children may have. Some cases of EDS are termed de novo, meaning EDS was not inherited from a parent but was a genetic mutation in utero. If both your son and daughter have EDS, it is statistically almost impossible they both have a de novo case...which means either you or their father also has EDS. Researchers are not sure why individuals of the same type of EDS present with different symptoms and different severities even within the same family.

For more information on specific types from NIH, also check out

• Ehlers-Danlos Syndrome, Classic Type http://www.ncbi.nlm.nih.gov/books/NBK1244/

• Ehlers-Danlos Syndrome, Hypermobility Type http://www.ncbi.nlm.nih.gov/books/NBK1279/

• Ehlers-Danlos Syndrome Type IV Vascular http://www.ncbi.nlm.nih.gov/books/NBK1494/ and http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1971255/

• Ehlers-Danlos Syndrome, Kyphoscoliotic Form http://www.ncbi.nlm.nih.gov/books/NBK1462/

• COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy http://www.ncbi.nlm.nih.gov/pubmed/21637106

Here are a couple of EDNF publications that might help:

What is EDS? http://www.facebook.com/note.php?note_id=10151543135885657

How is EDS Diagnosed? http://www.ednf.org/index.php?option=com_content&task=view&id=1507&Itemid=8 8889265

Pain, Physical Therapy, and Pain Management 2012 http://bit.ly/J9vZ8W

"So You Think You Might Have EDS?" http://www.ednf.org/index.php?option=com_content&task=view&id=1777&Itemid=8 8889242

An over-view of EDS which points out a lot of the problems is Dr. Clair Francomano's "Ehlers-Danlos Syndrome Update 2011: What We Know—And What We Don't Know" presentation at the 2011 EDNF conference, http://www.ednf.org/images/2011conference/Handouts/Francomano_EDS2011_What_ We_Know_2slides.pdf

The Prevalence of Non-Surgical Complications in the Ehlers-Danlos Syndrome http://www.ednf.org/index.php?option=com_content&task=view&id=1256&Itemid=8 8889208

What is EDS? http://bit.ly/II6QDW

Ehlers-Danlos Syndrome http://www.ednf.org/index.php?option=com_content&task=view&id=1650&Itemid=8 8889208

What are the types of EDS? http://www.ednf.org/index.php?option=com_content&task=view&id=1348&Itemid=8 8888969

The "EDS Guides" menu (on the left at http://www.ednf.org/index.php?option=com_frontpage and throughout the EDNF site) includes:
EDS in Practice: Pediatric and Adult Clinical Checklists
EDS Medical Resource Guide 2007
EDS Medical Resource Guide 2010
Dentistry Medical Resource Guide
Emergency Room/Surgery Booklet
Guide to EDS Child
Ophthalmology Medical Resource Guide
Pain Mgmt Medical Resource Guide
Pain & Pain Management 2012
Physicians Directory
Ritter Rules
Sports Poster
Vascular Medical Resource Guide
Vascular Primer
VEDS Clinical Reference Manual
EDS Wallet Card

So, take your time learning about EDS but call for an appointment with Dr. Byers as soon as possible.

Take care....

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Try to get to the conference sometime. It is so informative and the people that you meet are fabulous.

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Hi Callie66. I got Dr. Tinkel's Joint Hypermobility Handbook as soon I was diagnosed and it helped me to understand what's involved. I basically review each section, talk to my doctor about it, and if it applies to me we do the tests. By following this process I was diagnosed with cervical and lumber instability, bulging disk, osteopenia, POTS, vitamin D deficiency, vitamin B12 functional deficiency (I had to pay out of pocket for this special test). And many other things are being tested now, like sleep apnea, neurological issues, chiari, cranio cervical instability, urodynamics. Plus overall muscular skeleton assessment is a must. I had no idea my pelvis was misaligned and it was causing my backpain.

http://www.amazon.com/gp/aw/d/098257715X/ref=mp_s_a_4?qid=1343846178&sr=8-4 -spell

It can get very overwhelming and I literally wrote a plan of all things that I need to look into.

And read posts on this forum -- people are sharing their expiriences and it helps A LOT! Good luck with everything.

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I would like to add that it may be a good idea to see a biomechanics / podiatry specialist as she may need orthotics to correct over pronation. These can really help with joint stability and pain when standing / walking. Also perhaps advise her to take good care of her joints and minimise damage - she may not think it's necessary at the moment but will appreciate it with age.

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I don't know too much about your situation but I do know you have two resources out your way in Washington, albeit a distance of about 5 hours of driving.

Bastyr has a clinic in Seattle that I know some people have used... not a whole lot. They are usppose to be very good. It may be worth a call to fill out your allopathic care.

The other thing is that you might investigate is a mast cell disorder. I've been through the hematologist for my daughter with no findings for her labs being out of whack (and a really good hematologist at that). With my diagnosis of a mild case of mast cell activation, I think I have found the reason for some of her symptoms. I never would have been diagnosed nor gotten the relief from treatment if I wasn't in the Boston area. So you may want to investigate this. With that said, the Mastocytosis Society will be holding their annual coference in Bellevue, WA this October and the theme will be natural alternatives (but they will cover everything else). The reason I mention this is that mast cell can inappropriately release heparin. It might be a long shot but with the correleation being found between EDS and mast cell, I thought it would be worth relaying this info to you.

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thank-you all for the info. I am waiting for a call back to get an appointment for my daughter in Seattle with Dr. Beyers. My son saw a hematologist this morning and they are re-running all his bloodwork that came back abnormal.

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There are a few other EDS families in the Spokane area. Private message me with your email address and I will forward it on to one of them.

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