My Daughter Has an Appointment with a Genetic Counselor

Ah, one of my best friends has this. I know for her, she has to avoid things that cause inflammation, because that exascerbates it. She follows an anti-inflammatory diet - no red meat, and even chicken or pork she only has about once per week. She's basically a vegetarian, because when she eats meat, her condition flares up. By watching her diet closely, she rarely has flares. She does occasionally still have one if she's coming down with a virus (because that obviously causes your immune system to rev up as well).

So, you might ask about preventing flares with diet.

I'm not sure about her challenge with diagnosis, because she's had this as long as I've known her.

Good luck, and if your daugher is like my friend and can get rid of the pain by simply avoiding meat, it would be worth it. I hope you and she will try it.

ADDED: I think my friend has the hypermobility variant. She doesn't have skin issues, but when she's having a flare-up, her hips will literally fall out of their sockets and she has to pop them back in. Sounds very painful. But the good thing is that most of the time, when she's not having a flare-up, she can do anything anyone else can. I actually met her in college when she was teaching aerobics, if that gives you an idea of how active she is!

hmmm, I was all excited from the title my dd has a genetic disorder they were able to identify at 3 mo old. but i know when it comes time for her to decide if she wants to have children or not she will need to meet with a genetic counselor, so i was hoping situations might be similar and i coudl learn from your experience. but this sounds more like they are just diagnosing.

One question i might want to know is how it afffects her having children, and also how it occured, I was told my dd's was a spontaneous mutation. but would be herediatery from this point on.

I assumed you have googled, have you also looked for support groups on line that might give you some guidance.

Our teenage daughter has always been quite flexible and very "double jointed". She has also had a history of what we thought were "growing pains". However, about a year ago we noticed that she was "popping" her joints out of their sockets bilaterally unintentially from her shoulders to her ankles. Our daughter noticed it during swim practice and at one point she wasn't able to "pop" her shoulders back into their joints readily. When her symptoms began to worsen, experiencing more pain, and she had difficulty walking, we took her to our pediatrician. He suspected Ehler-Danlos, however she did not have the "classical" skin elasticity or difficulty with healing wounds/bruises. The pediatrician recommended our daughter start physical therapy in January in order to strengthen her muscles to help hold her joints in place and referred us to Cedar Sinai in Los Angeles to meet with a genetic counselor and genetic doctor regarding Ehler-Danlos Syndrome. Cedar Sinai diagnosed our daughter with benign hyper-mobility syndrome which is basically Ehler-Danlos without the skin component. Cedar-Sinai told us that our daughter would be a "lifer" for physical therapy and she must keep a strong core to reduce the "popping" of her joints as this "popping" may lead to RA and bone deneration. Cedar-Sinai did a wonderful job explaining to our daughter the diagnosis, causes, treatment, and prognosis. Cedar-Sinai also told us that we should make sure that we keep her allergies under control as that can cause "flare-ups" of this condition. It has been challenging to monitor our daughter's sports involvement with this diagnosis, to keep her spirits up as she deals with her pain, frustration and just beeing a teenager!

I wish you the best as you embark on this journey.

P.S. I also took a list of symptoms, what seemed to make symptoms worse, when symptoms seemed to improve, etc., to our appoitment at Cedar-Sinai.

Look for an online support group at

http://www.mdjunction.com/support-groups

Good luck!

My daughter has conditions called Microcephlay and Crainosynstosis. I found several support groups that put me in touch with other families whose children have the same conditions. They really really work!! Sorry you are going through that. I am sorry. I hope you have the support of you family. Just google condition.