davecom Posted April 9, 2013 Report Share Posted April 9, 2013 I noticed that a few of you are working with a geneticist. How did you find him? How expensive is it? What is a feasible way to get testing on one's own for something like Marfan's, EDS, or other connective tissue disorders? I have noticed that 23andme does not cover these genetic disorders. Is there another testing service that does? Quote Link to comment Share on other sites More sharing options...
issie Posted April 9, 2013 Report Share Posted April 9, 2013 If you run your 23&me testing through Promethese then it will show if there are genetic markers for EDS - but, it won't tell you which type you have. So, you can somewhat get an idea. There are some people on 23&me forums that have figured out which genes to look at to somewhat determine the possible areas for EDS and which ones to have a closer look on. So, it might be a starting place. I think they run the test for $99.00 sometimes and Promethese is free.Issie Quote Link to comment Share on other sites More sharing options...
Katybug Posted April 9, 2013 Report Share Posted April 9, 2013 Keep in mind that some CTDs and forms of EDS do not yet have a genetic test and the diagnosis is clinical. That is why it is so important to work with a doctor that has a subspecialty in the realm of connective tissue disorders. For example, I work with Dr. Francomano, who happens to be a geneticist. Her subspecialty is EDS. You may be able to find a geneticist or even a rheumatologist.near you that has the subspecialty. I was referred to Dr. F by a rheumatologist who suspected EDS but didn't feel knowledgeable enough to make the dx. She suggested Levy or Francomano. I called both offices and Francomano could see me sooner (of course even that was a 10 month wait.) I have found that asking one of my current docs that I trust the following question has gotten me in the right docs hands in the last few years, "If it were you or you wife/husband, who would you go to?" Quote Link to comment Share on other sites More sharing options...
issie Posted April 9, 2013 Report Share Posted April 9, 2013 Good advice Katy. The doc that DX'd me with EDS was at Mayo, AZ and it takes a special doc very familiar in what he sees to be able to know what he is looking at. But, I did find with my 23&me, that it reassured me to see that the genetics were showing and confirming what he had said. None of the docs I saw at Mayo thought that I had Vascular type and since there is very little that can be done about EDS any way --after talking in depth to a geneticist there - we decided to not go further with testing. It was enough for me to know that this was "thought" to be the problem and I didn't need to spend all that money and have the definitive test ---since like you said HEDS has no genetic testing available any way.Issie Quote Link to comment Share on other sites More sharing options...
Katybug Posted April 9, 2013 Report Share Posted April 9, 2013 I really want to do a 23&me but I'm just so strapped for money right now I can't. But I bet it would show some interesting tidbits. :-) Quote Link to comment Share on other sites More sharing options...
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