Guest guest Posted April 6, 2004 Report Share Posted April 6, 2004 Hi Bernadette, I was actually diagnosed through a combination of my geneticist, Orthopaedic surgeon findings and a specialist rheumtological professor who specialises in connective tissue disorders. It is quite rare to get full mutations of EDS/Marfan but it is more common to get cross over with marfanoid habitus and features. It can be very difficult to get a full diagnosis with so much confusion and cross over within the different types - I like quite few other people here, actually have a variation of several types of EDS as well as my Marfan elements. Have you seen any specialists or geneticists yet? It might be worth checking out some of the recommended consultants from CEDA who may be able to give you a better idea of your daughters condition or specific type(s). Hope you get some answers and I look forward to catching up with you again soon. Love and hugs....Jo xxx Quote Link to comment Share on other sites More sharing options...
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