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

You asked about the bone biopsy. I had a major all out horrible attack of Mast Cell Activation Syndrome , common by 40% in EDS patients. It came on like an assault after each covid shot. It presents, in my case, as a horrible skin affliction on my face. I looked like someone had splashed acid on it. With each wrong item I ate I would get a new spot. I self diagnosed and had it confirmed by on line Dr who is a naturopath. I went to a dermatologist , who was somewhat horrified and out of her element on this, but took a skin and bone biopsy right into my chin bone. She was clearly out of her element and so I moved on to Beth O’Hara’s website which was a huge help. I have 3 separate female Dr’s sites thats I have used to walk me through Mast Cell which is debilitating and more common to EDS than anyone has emphasized. I am a trained counselor by trade and teacher before that, so I dig!…..There are a number of co-morbid conditions as you have learned, but this one doesn’t get enough emphasis. This Pandora’s Box once opened, is opened for good, and Life of eating and even drinking (not referring to alcohol which I do not drink)…..is a very new and specific to me, eating regimen to be taken very seriously, but can really reinforce healing and health! I was totally bedridden for months save wandering to the kitchen or bath, and the brain fog was intense. It required a lot of patient research for me to dig out and follow protocols. In the end, Ironically , I designed my own with the help of the Eat Right 4 Your Type book for my blood type. All of my swelling subsided, my face began to heal and is healed today totally unless I eat the wrong foods or spices. My EDS calmed right down as well and inflammation fell away. Stress of course acerbates everything so I am careful but life is stressful!…..and the last thing I want to add is the importance of treating the anxiety of EDS. So many do not realize that the anxiety is a root issue …GAD……in EDS and an active co morbid condition always present and gets worse as you age. My husband always says, if the house is burning he is running back for my Effexor!…….I get to be happy every day without anxiety eating me up. There is a genetic marker found about 4 years ago, for anxiety disorder. I didn’t have the test as I had to look no further than my family, and the Canadian side was already on it when my daughters therapist, actually, suggested it to me. I think so many EDS patients fall into depression because their root issue of anxiety was not managed, then are put on antidepressants when it should have been an anti anxiety drug all along. Both my adult children have been placed on it and finally thriving. It was the discovery made from. Robin Williams death and he handed himself over to research. He was Welsh as well as I am partly, and my mother is by half. She had every single thing he had including the final insult of PD with Lewy Body Dementia. And she had EDS but I have it much more. Am I rambling?…..so sorry…..but maybe it can help another! God Bless!…..

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You asked about the bone biopsy. I had a major all out horrible attack of Mast Cell Activation Syndrome , common by 40% in EDS patients. It came on like an assault after each covid shot. It presents, in my case, as a horrible skin affliction on my face. I looked like someone had splashed acid on it. With each wrong item I ate I would get a new spot. I self diagnosed and had it confirmed by on line Dr who is a naturopath. I went to a dermatologist , who was somewhat horrified and out of her element on this, but took a skin and bone biopsy right into my chin bone. She was clearly out of her element and so I moved on to Beth O’Hara’s website which was a huge help. I have 3 separate female Dr’s sites thats I have used to walk me through Mast Cell which is debilitating and more common to EDS than anyone has emphasized. I am a trained counselor by trade and teacher before that, so I dig!…..There are a number of co-morbid conditions as you have learned, but this one doesn’t get enough emphasis. This Pandora’s Box once opened, is opened for good, and Life of eating and even drinking (not referring to alcohol which I do not drink)…..is a very new and specific to me, eating regimen to be taken very seriously, but can really reinforce healing and health! I was totally bedridden for months save wandering to the kitchen or bath, and the brain fog was intense. It required a lot of patient research for me to dig out and follow protocols. In the end, Ironically , I designed my own with the help of the Eat Right 4 Your Type book for my blood type. All of my swelling subsided, my face began to heal and is healed today totally unless I eat the wrong foods or spices. My EDS calmed right down as well and inflammation fell away. Stress of course acerbates everything so I am careful but life is stressful!…..and the last thing I want to add is the importance of treating the anxiety of EDS. So many do not realize that the anxiety is a root issue …GAD……in EDS and an active co morbid condition always present and gets worse as you age. My husband always says, if the house is burning he is running back for my Effexor!…….I get to be happy every day without anxiety eating me up. There is a genetic marker found about 4 years ago, for anxiety disorder. I didn’t have the test as I had to look no further than my family, and the Canadian side was already on it when my daughters therapist, actually, suggested it to me. I think so many EDS patients fall into depression because their root issue of anxiety was not managed, then are put on antidepressants when it should have been an anti anxiety drug all along. Both my adult children have been placed on it and finally thriving. It was the discovery made from. Robin Williams death and he handed himself over to research. He was Welsh as well as I am partly, and my mother is by half. She had every single thing he had including the final insult of PD with Lewy Body Dementia. And she had EDS but I have it much more. Am I rambling?…..so sorry…..but maybe it can help another! God Bless!…..

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Thank you so much for sharing this 🌼 May I ask what type of biopsy? It’s really interesting.

In my case so far is HSD because they didn’t saw something’s that could have made me fall under hEDS instead. My genetic test was from Invitae “Connective Tissue Disorders” panel cheek swab. The issue with this is that it’s missing two related genes. One of them TNBX that my independent lab find something I can’t understand tbh 🤷🏻‍♀️

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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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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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@chefdecemberskye im working towards getting biopsies since there’s kinda more evidence in the tissue. According to a study they could see in the biopsy under a microscope that the tissue had a difference formation in participants that had TNXB mutations and they are linking it to hEDS. I’m also trying to get biopsies for the comorbidities like MACS cuz that’s the best way to definitely see this cells acting abnormal and for the chronic pain and fatigue neuropathic pain etc im trying to get a small muscle fiber biopsy to see if there’s a myopathy involve that could be explained by any particular CTD or neurological or autoimmune situations. Im also having degenerative bone changes that I understand could be part of connective tissue disorders but I had history of neuroendocrine cancer of my rectum and now there’s more weird stuff like endometriosis extra pelvic stage 4, endometriomas, Epithelial Inte. Hyperplasia and Carcinoma in situs in my reproductive organs so I’m doing my best to ask for a bone biopsy to check for cancer or to understand why I’m getting bone lesions in bone scan in less than a year…. Also trying to get gastroenterologist to do biopsies of masses on anus and GI track to see if I have MACS or something related to what’s going on with me or something is reoccurring… but nobody seems to put together all and won’t do biopsies to get out of doubt… mean while I’m getting more and more ill and I’m feeling they are gambling with my life…. I really hope they can do best gold standard data research base approach to better help you… it’s so exhausting but hopefully we all get there someday! Blessings of healing and health 🙏🏻🤍

Pic of blood in my mouth one morning also asked to get a bronchioscopy cuz they keep saying all the nodules are calcified but can’t answer my breathing issues and the inflammation the MRIs showed on the apex top left lung 🫁 where the supposed nodule was calcified so they wouldn’t biopsy….

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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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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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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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