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Ehlers Danlos Syndrome (EDS) & HSD, calling all types!
Hello,
I am looking for a community of EDS and HSD folks.
I am waiting a confirmatory second DNA test for Vascular Ehlers Danlos Syndrome. Currently I am experiencing weakness in the extremities, further slipping of joint articulation even while resting, unregulated body temp and blood pressure,
POTS, migraines, menstrual complexities, chronic widespread pain, fibromyalgia, and on the verge of depression.
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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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4 ReactionsUpdate: I do have the COL31A mutation but there test is limited and full genome sequencing is required.
I am so sorry you are going through all of this also. I have a lot of the same things as you so I would push for the biopsies. My doctors are so surprised that I know so much but I am also autistic and research is one of my special interests/talents. I had endometriosis and developed cervical cancer during my 2nd pregnancy and was medically neglected until I almost died of pancreatitis from an allergic reaction to zolfran. It took 6 years to be diagnosed with MCAS, and a slue of cormobid disorders. I’m going to try to sign up for as many eds genetic studies I can find in hopes that my genetic makeup will help others in the future for diagnosis. I have mutations on the TNXB gene as well but it is listed as limited due to Invitae not being able to run full genome on some of my gene mutations.
I will be praying for your health and answers. ❤️
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4 ReactionsMore studies in Northern Europe but after the passing of my orthopedist, I lost contacts. US seems to just use EDS for a catch all of “I don’t know” and real knowledge is so very elusive. Patients who research it often know more but the you need a research diagnostician to implement facts.
You’ve been through so much!
Gif bless and you safe!
I have learned to go back to the Serenity Prayer nearly daily in my life…..keeping track of all my assorted and varied issues is mind numbing but that prayer puts me back on my tracks whenever I read it…..and thats often…..I know to surround myself with my colors which are autumn, and dress myself in them as well….it makes me happier and matches my skin. I don’t need to look sick!….doesn’t help! There is also the book Love Medicine and Miracles which has stayed present in my life, and listening to my happy music which happens to Irish…..and I play it loudly and sing. Singing creates endorphins too and the heart loves it……and I just came in from pulling weeds and fixing my garden and I was a sweaty, dirty, happy mess and I do that to literally sweat, as it always backs my MCAS right back down…..better than a sauna for me as I look around and am pleased with my work….there was a point when I was too sick to do any of these things, so now I embrace them. What used to be so normal is now valued and special. When I dug the holes for my plants today, I was very happy with how my latest knee surgery stabilized my leg!…..two weeks I have the other one done. Over my life I’ve had a 7 or 8 knee surgeries alone. But hey! I’m walking and no one at all can tell I’ve ever had a problem!…..stairs however are NOT my friends and never have been….right there w curbs! So while the EDS and MCAS and POTS slightly, skin problems and so many others….eat at us……keep feeding your mind and joy in your own special way…….because that is also medicine we so very much need!……
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2 ReactionsI agree !! No matter what our physical pain/health issues are, keeping an "attitude of gratitude" can definitely help us get past the hard things to handle each day. This helps me thankfully. I hope it helps you too.
mmata
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1 ReactionThe 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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1 ReactionSo is that vascular Eds you have
From what I understand ... " In both Classical and hypermobile: skin can be velvety or hyperextensible" ... so no I do ot consider this to be vascular type. Again I see a whole lot of complications in the diagnosing process and think it better to focus on what I csn do to live with the physical oddities I have. The bumping bruises do not seem to cause othe issues and do heal relatively fast. They don't even hurt ... are just bruises. I am more careful about any activity that might create excessive hyperextension and do have daily movements to fully allign the SI Joint as well as gentle stretches to not overdue muscles around my joints.
From what I have read ...the total diagnostic criteria as stated today is so complex that most Drs. do not manage to deal with it, let alone patients.
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2 ReactionsEpsom salt baths……helps w bruising….!
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