merylg
Senior Member
- Messages
- 841
- Location
- Sydney, NSW, Australia
My Immuno after much testing concludes I probably have a connective tissue disorder, but "which one?"
I have no outward signs of hypermobility YET when I wrote recently to a top genetic counsellor, describing my other symptoms (more inner symptoms), and other symptoms/features/problems across whole family, her opinion was that Ehlers-Danlos Syndrome was likely.
I have been to one Genetic Clinic, who noted a "contracture" at one elbow...so quite the opposite to hypermobility!
Their conclusion was to recommend testing for Marfan & Loeys-Dietz Syndrome at a cost to me of $4000. Their advice was to wait a year and testing would be cheaper.
These two differing opinions left me somewhat confused. So I did some more reading. Right now I need to spend money treating my illness (severe CFS of postviral onset ?Lyme & co-infections). When I can save up I will test for Loeys-Dietz Syndrome Type 3 (SMAD3) for about $500 US.
Another possibility is to see another Genetic Clinic for a second opinion.
I have no outward signs of hypermobility YET when I wrote recently to a top genetic counsellor, describing my other symptoms (more inner symptoms), and other symptoms/features/problems across whole family, her opinion was that Ehlers-Danlos Syndrome was likely.
I have been to one Genetic Clinic, who noted a "contracture" at one elbow...so quite the opposite to hypermobility!
Their conclusion was to recommend testing for Marfan & Loeys-Dietz Syndrome at a cost to me of $4000. Their advice was to wait a year and testing would be cheaper.
These two differing opinions left me somewhat confused. So I did some more reading. Right now I need to spend money treating my illness (severe CFS of postviral onset ?Lyme & co-infections). When I can save up I will test for Loeys-Dietz Syndrome Type 3 (SMAD3) for about $500 US.
Another possibility is to see another Genetic Clinic for a second opinion.