Genetic Apoointment Soon

[lissy]

Hey all,

I have a genetic appointment the 24th of this month, in which I'm already looking into a family genetic condition but to anyone that knows dysautonoma causes from genetic conditions could you please let me know and possibly the name of the tests it would be so helpful.

I've heard about the * one with the joints and skin??? bad brain fog sorry

and mito are those tested through a genetic doctor?

Thanks Lissy

[avidita]

Hey all,

I have a genetic appointment the 24th of this month, in which I'm already looking into a family genetic condition but to anyone that knows dysautonoma causes from genetic conditions could you please let me know and possibly the name of the tests it would be so helpful.

I've heard about the * one with the joints and skin??? bad brain fog sorry

and mito are those tested through a genetic doctor?

Thanks Lissy

EDS, Marfan and Mito are genetic diseases that can be tested by a geneticist. However, EDS and Mito have different subtypes and each test is very expensive. I think the doctor should be able to tell which tests would be appropriate for you and based your family history and examination. Good luck!

[Sarah4444]

I recently saw a geneticist and was tested for Dopamine Beta-Hydroxylase Deficiency, which causes POTS and has apparently has joint symptoms as well.

Sarah

[comfortzone]

Not sure if I can help - but I have had a work-up with Genetics at a major university medical center earlier this year. I was sent to confirm or not - a diagnosis of Hypermobility Syndrome which was diagnosed by my rheumatologist for sudden onset of body wide pains after some major surgeries. I do know that they are very much wanting an entire family history as detailed as possible about cousins, aunts and uncles, sibs, parents, grandparents etc....and their states of health, what their ailments were, how they lived and died (sick or healthy etc.) So it's good to do your homework and share with the genetic counselor all that you know about things that may be similar to what you experience.

For the appt. itself it involved in my case a very thorough physical exam. They may measure your ears, your eyes, your face, your neck, your hands etc....additionally they may ask you to extend and flex different joints different ways if they are zoning in on a hypermobility component of a malady. They will probably review and recent tests you've had be it CT Scans, MRI's, X-rays, bone scans, and also will look at all the labs you've had done recently - I compiled a binder for the doctors to review. It also had all my consult notes in it and such - physical therapy records - simply everything.

They ask a lot of questions too - like do you bruise easy, have you ever been able to do the splits easily, have you ever dislocated a joint, have you ever been able to contort your body into weird positions or do odd party tricks with your joints. They will ask about spontaneous ruptures of any tendons etc, any frequent injuries, any tendonitis, bursitis, arthritis.... They may ask if you can touch your thumb to your inner wrist, bend your pinky back 90 degrees, touch your hands palms to the floor, and check your elbows and knees for hyperextension. All those things measured give you a score of the Beighton Criteria or the revised Brighton Criteria - for hypermobilty syndrome or EDS - HM (type 3 or the hypermobilie type). They may ask about scars and skin - do you have soft velvety skin, or do your scars look odd and papery, does your skin stretch more than usual. They will ask about your cardiac history as well.

Those questions are again pretty specific to the work-up for EDS - I would imagine every work-up is different depending on what they are looking for. They may want a skin biopsy too - but for me it was cost prohibitory to do that. All and all though as there is no specific blood test for the pure hypermobile EDS - the diagnosis was based on history, family history and physical examination by the doctors.

Dunno if that helps - but there you go :-)