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Ehlers Danlos Syndrome (EDS) & HSD, calling all types!

Bones, Joints & Muscles | Last Active: Feb 8 8:59pm | Replies (65)
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@chefdecemberskye

I just got my results from Invitae and they said I didn't have any eds markers for rare types, I have RyR1 and FLNB markers even though I meet all of the vascular and myopathic eds traits.I also have some previous genetic data showing the mutated genes that Invitae didn't find so I am confused as what to do next. I am getting a muscle biopsy to see what type of myopothies?dystrophy I have but should I do a connective tissue biopsy?

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Replies to "I just got my results from Invitae and they said I didn't have any eds markers..."
chefdecemberskye | @chefdecemberskye | Feb 17, 2023

Update: I do have the COL31A mutation but there test is limited and full genome sequencing is required.

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rjmtwit | @rjmtwit | Feb 21, 2023

The EDS Society has focused on genetics ... and I am so sorry to hear of your tough search. Another way of looking at the hEDS issues is to find working solutions that at least help. Try finding a physical therapist who has some understanding of our joint slippage and can give you information on how to keep the muscles surrounding the joints in place. Regenerative medicine doctors do prolotherapy that can tighten overworked and stretched ligaments connected to shipping joints. I am still looking for vein strengthening ideas. I have been taking billberry but don't think that is an answer. Any little bump into something solid causes blood brusing.
Hope you can find some working helps ....It matters!

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