Ehlers Danlos I think?

I believe both my teens have ehlers danlos. The stretchy skin ,hypermobility, high cleft palet, crowded teeth etc..My son's back has terrible stretch marks. They suffer from joint pain. I have 2 questions, 1st what kind of Dr diagnosis this and treats it? 2nd Could chronic concussions be related. My sons has had 3 in the past 10 months.

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Hello, Cindy, and Welcome!

A Genetecist is who usually diagnoses EDS. I looked at where you live and Dr. Tinkle, one of the very few EDS experts, is going to be practicing in Chicago starting in September. I do not know if appointments are being arranged for him yet, but since there are very few EDS experts then it can take quite a while for an appointment. Diagnosis is made by clinical examination, medical history, and family medical history. If further testing is warranted, the doctor will explain. You can read more about EDS, the types, and how it is diagnosed here: http://www.ednf.org/index.php?option=com_content&task=view&id=2202&Itemid=8 8889278.

As far as concussions, no, they are not related to EDS. In fact, those with EDs should not do any contact sport, high-impact activities, or any activities in which joints hyper-extend. Therefore if they have EDS, it sounds like new interests may be necessary.

Feel free to ask any questions.

Take care....

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Thank you for your response. Is EDS a syndrome? MEaning that it is on a spectrum., so that different people are affected by it in different ways? I know that there are 6 types but it seams that not everyone has the exact same symptoms.

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Hello again,

Yes, EDS is the abbreviation for Ehlers-Danlos Syndrome. It is a genetic connective tissue disorder that produces defective collagen. Collagen is in just about every part of the body including tendons, ligaments, cartilage, fascia (the "saran-wrap" like substance that surrounds muscles and organs), the lining of the GI system, the lining of blood vessels, gums, and eyeballs. With so many places collagen is in the body, the combination of each person with EDS is uniquely theirs...even when within the same family. Researchers do not know why some with EDS have severe symptoms while others have very mild symptoms, even within the same family.

There are 6 types of EDS. The most common types are EDS-Hypermobility Type, EDS-Classical Type, and EDS-Vascular Type in that order. It is common for those with EDS to have crossover symptoms with other types than the one they have. These three types are all inherited in a dominant autosomal pattern. That means a parent with EDS has a 50% chance to pass EDS to each child they have. Whatever type the parent has is the same type the child(ren) would have.

I hope this helps.

Gentle hugs...

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Thank you . Your information is very helpful. Are there genetic tests that can be done for this?

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The genetic mutations for EDS-Hypermobility Type have not yet been identified, so there is no genetic test for this type. For EDS-Classical Type, there is a genetic test, though it's somewhere between 50% and 90% accurate and so is rarely used. All of the other types EDS have genetic tests available.

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ok So basically then it is a physical test that the Dr administers. The reason I am looking into all of this is my daughter started saying "hey can you do this". And she would pull her skin out really far. She can do this everywhere on her body. Then my son said "yeah I can do that." No one else in either family (mine or my husbands) can do this. So I googled stretchy skin and found this. Then I started reading about the hypermobility type and they seamed to have a lot of the symptoms that were listed. Then my daughter was at the pschiatrist office getting meds for her ADD and anxiety and she showed the Dr how she could pull her skin way out and rotate her elbows around (this I can do) and the Dr freaked and said o my gosh you have Ehlers-danlos. Which I had allready thought of. So I guess the next step would be to find out if they really do and what that means for their future (babies and things) My son had to stop playing football because of injury and concussion. My daughter is an elite softball player but suffers from joint pain and knee ligament issues.

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Hi Cindy,

Yes, it's a clinical examination, medical history, and family medical history.

If your daughter does have EDS, then you and she will have a difficult decision to make...

Here's a guide to the child with EDS that may give some guidance for you as well...http://www.ednf.org/documents/EducatorsGuide%28r2011%29.pdf

Take care...

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Thank you , you have been very helpful! Blessings!

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