hello, Katie! Hope you're fine! Last year I went to an excellent geneticist here in Brazil. I told him about my aortic root dilation, hypermobile skin and joints, as well my mild marfanoid habitus, with tall stature and pectus excavatum. He carefully took my personal history, family history, he also made a lot of physical examination, to check my joints. He also ordered a full spine X Ray, full chest X Ray, and ultrassound of heart, entire aorta and iliacs. At the first moment, he wanted me do a genetic test in 6 months. But after I brought him the exams, he said I could be having it only after 5 years, he saw absolutely no urge in getting me tested. He said that, if I had Ehlers Danlos, it would be type 3. Maybe classic, but a light version. However, how we say here, we always get a "flea behind the ear", i. e., a bit suspicious, because there are always a probability we may have something else. So, as it seems pretty easy to get a genetic test here, I'll be doing it this week. I really don't fear. A genetic test won't show anything I don't have since I was conceived in my mother's womb haha. And I can help some relatives that have some signs of it, including my mother. Here the test costs about 350 dollars, it examinates 44 genes associated with diseases of aorta, including Marfan, Loyet-Dietz and many genes associated with Ehlers Danlos. May Our Lady of Graces protect all of us! Wishing you all the best!

What medicine they gave you? How long it took to recover?

Where is the pain located?

I am surprised that vascular surgery did not look at the vessels …I am glad you made it through. I just found out I have a tortuous ICA right which is pulsatile and a 2mm aneurysm. Waiting to see a specialist. My cousin has EDS.

Hi, me too! I only found out now that I have vEDS, and I 'm 43.

Hi Katie, thanks a lot for providing us with your symptoms down the long road - hope, you are well this time! may I ask some further questions because of a case in my environment here in Germany. what symptoms or issues led to the diagnostics of your VEDS primarily? Did you ever try (or anybody else here in the comment section) dietetic approaches, i. e. carnivore diet, looking at the possibly autoimmune origin of an tissue/ collagen synthesis deficiency? thank you very much, i can see, you answer still since the video is 3 years old. ❤

How do I get tested? What kind of dr can help with the diagnosis?

Hi katie im glad to find you. I am lost without many answers. My aortic root is growing and my cardiologist isnt concerned. Has yours grown over the years? Any issues?

I just went through all this during Christmas - was in the hospital. ER did the right tests so we could figure it out. It’s very scary. My heart goes out to everyone who has gone through this and has this asa diagnosis. I don’t even want to get in a car now, concerned about getting in an accident and hurting my neck.

3 to 6 months of collagen and b vitamins

Thank you, I needed this. I've was diagnosed with hEDS 12 years ago without genetic testing. I've been through so much pain and strange complications that I've been blaming on hEDS. Maybe that's what it is, but I'm going to finally rule out the other types. I meet with my pcp this week and if he can't move forward with testing, I will pay out of pocket somehow. I will make it happen.

So sorry I had tia last yr my speech was slurred. I didn't go to hospital as it was so quick but saw Dr after started on baby aspirin and was told to lose weight. I have lost 80 lbs but the symptoms keep Coming for short periods. Sometimes the slurring comes to back and I walk at times like I'm seasick or drunk. I told the neurologist and he wants to do further brain tests he thought this residual is from original stroke. My eeg showed no brain damage.

Thank you Bella and Katie. Merry Christmas to the entire vEDS community and it's connective tissue friends.

How are you doing now? Has ur dissection healed?

what do you do when doctors wont let you get a genetic test for it? whenever i ask they just refer me to physio who are like theres nothing we can do for you but agree that symptom wise it does sound more like veds than any other type due to circulation issues like since i was a kid my legs would go completely numb if i had to sit on the floor and id have agonising pins and needles standing up which lived up to its name well and truly and i thought everyone had it because no one liked sitting on the floor but now i know they only felt mild discomfort i also get purple legs if i stand up too long have veins all over including pelvic congestion syndrome. the system has given up on me i have no support and no idea what to do next ive been pushing for a diagnosis for nearly 10 years for both me and my child who have this genetic condition

Katie, I hate that we all seem to have the same story. I had to tell my Orthopedic Surgeon that I thought I had EDS and after thinking about it a moment, he agreed and sent a referral to the Kennedy Kreiger Institute in Baltimore, MD. I was on a wait list for over a year, but praise be to God, they got me in 8 months earlier and the team of specialists there are PHENOMENAL. I just did my genetic testing as well and am waiting on results. They can't define if I have hEDS or vEDS and are hoping for a definitive answer once the results come back, but they think it may be vEDS. I have chronic headaches, neck and back pain and they were great enough to get xrays done sa.e day. Next day, they confirmed I have arthritis all through my neck and spine, degenerative disc disease and curvature all throughout. I also have bulging discs and confirmed knee issues. Have you also suffered with arthritis, degenerative disc, curvature, etc?

Hello, Has anyone tried hbot therapy?

Hello, Have you tried hbot therapy?

Hi, I have my wife with veds and I'm now contacting companies who own the Enzastaurin molecola to know if there is some of them who will to go forward with phase 3 trial

Prayers for you!

My late internist had a plaque on the wall of his office that said: Listen to the patient. He or she is telling you the diagnosis.

Magnesium supplements taken regularly can prevent constipation. I have to take opioids daily for chronic pain from a very rare genetic metabolic disease called Variegate Porphyria. I have had problems with constipation (with paralytic ileus in a severe porphyria attack), pretty severe GERD (which, btw, has caused COPD from scarring in my lungs from aspiration of gastric acid at night), and gastric paresis. If I don't take daily magnesium oxide supplements I get pretty constipated and end up having to take a stimulant laxative like Dulcolax. (Tip: if you have to take a stimulant laxative, take some Gas-X along with it. That helps with some of the cramping.) As for the magnesium supplements, I take 750 and 1,000 mg - alternating doses on different days. I can't get over no doctor EVER offering you medication for nausea and vomiting! I keep Phenergan suppositories in the fridge and have Phenergan tablets - both, just in case. I can't take Zofran, Vistaril, or Atarax for nausea/vomiting because they are contraindicated in porphyria. Phenergan (promethazine) is an old drug but it's very effective for me.

Those neck episodes of yours were absolutely arterial dissections. I'm so sorry that it took so long to get your answers. I'm seriously heartbroken you went through so much more than you may have needed to all because of the negligence of medical professionals. I had a VAD at 28 with a stroke, and found congenital defects on my MRA scan. I know how hard it is to be taken seriously. God bless you girl, I'm so glad you're still here and you're doing an awesome thing by sharing your testimony!

I had a stroke in 2018 i know the feeling and i hope you feel better soon

Hello Katie. I'm a brand new subscriber. I'm a dietary vegan with a rare metabolic disease here in 🇬🇧 👍

This Is correct

Very helpful thank you for sharing

Thank you Katie and Claudia!

Thank you Bridget and Katie for this episode. The changes in the genetic testing space are unfortunate. We at UT are looking for additional ways to better identify those at risk for these types of conditions.

I can’t understand the website you gave to see if I have this. What are they again?

2:13 even when I was 5. I always had veiny freckles old looking hands and hated it!

Who was your neurologist in Florida

Hi when was the last time u had a tia?

I’m waiting in genetic test app, after going to dr for 34 years with all diff symptoms- of finally hit me- at 10 yr old I was diagnosed with ligimentus laxity of the feet where u saw specialist and given physio and insoles for my shoes- I basically didn’t go back with any feet problems cause I knew what was wrong, I googled the term ligimentus laxity and it showed ED. I went to dr and told her she said “ you don’t look like you have ED” lol eventually she said she’d put me to be tested, I have every single thing in checklists . They have made me feel like a hypochondriac for years!! And I take zero meds and have given zero support!! Makes me so mad xx

Katie how can we connect I have an 18 year old that I know is also going to test positive is scheduled for surgery in a rare herniated muscle on his foot , which is absolutely connected In Canada we need fightVEDS genetic support Have a file now but time is crucial my organs are failing

Katie, thank you so much for sharing your experiences and stories. I have found them helpful to know what to watch for. My family has recently found the COL3A1 as the cause for the dissections and deaths in the family, and I have tested positive for vEDS. I have not had TIA's that I am aware of, but 5 years ago did have 'something' that appeared a little like a stroke in that my short term memory was gone, very confused, etc., but chocked it up to a bad silent migraine. Also, a year ago I had something that seemed like a major allergy reaction, but wasn't. I turned red in the face, lost strength in my muscles, walked to the bathroom feeling like I was fully drunk, and went down to the floor and almost passed out. By the time EMT's arrived, I was already recovering. EMT's and ER doctors and allergy doctors could find nothing wrong and told me to get an epi-pen for unknown allergy... that was before I knew I had vEDS... Pretty sure that would be bad to stick in me :o

My ministrokes are more like my grandmothers. She passed when she was 81 yrs. She lived a long time, suffering as long as I can remember. They said it was diet, lack of exercise, weight. It wasn't. It was always vEDS. At that time, vEDS was not being looked into at all that I can find. With my ministrokes, I have lost my navigation with driving. Everything has affected things with my mind, as opposed to my physical body. I could go anywhere in the world once, and never forget how to get there. About 7 - 10 years ago, I know I was having a ministroke. I was standing in front of my medical drawers for my nutrition. I'm on iv nutrition as well. I was standing there, turning in circles repeating "I know I'm supposed to do something, but I don't know what I'm supposed to do. What am I supposed to do? I know I'm supposed to do something, but I don't know what I'm supposed to do. I couldn't think about anything else. The headache and room spinning was terrible. I know I have had well more than a dozen ministrokes at this point. I'm in Maryland where I am getting zero help for this. I am on hospice now. My body just can't function right. I've been in my home for more than 10 years. I've been on iv nutrition for 17 years now. This October hit my 17 year anniversary for iv nutrition. My entire gi system has so many areas of paralysis. I choke constantly. My lungs have seized up 8 times. I thank God for carrying me through and opening my lungs before I blacked out and died. I have chronic vessel ruptures every day. I've had several heart attacks from the capillaries rupturing at my heart. Not one doctor in the entire Maryland, DC corridor is willing to help me. There is more than one form of vEDS. I do not have the gene they know of now. My geneticist said she and others believe there are other genes to test for vEDS, but they aren't sure which ones yet. I have 2 geneticists, one Clair Francomano who has been involved with EDS for quite some time, and Reem Saadeh-Haddad. Both geneticists are credible geneticists. Neither can help me get any kind of assistance from other doctors to help what is happening throughout my body. God bless you and all you are going through. Take care.

6 years ago my 31 year old daughter had a bilateral vertebral artery dissection. She was at work at the time this happend. She started not feeling well, then got a pain in her neck at the top of her spine. She ended up having a seizure. She was in the ICU on life support for a week. The doctors had no idea why this happened. The MRI showed she had 18 strokes in her brain. She also went blind. We found out from her autopsy that she had VEDS. We had never heard of it before. She had never had anything else happen to her. I can’t believe you were walking around with this happening to you for over a year. You are so lucky.

I know the gene is the col3a1- what is the specific rs id of the gene?

I feel like people have to see many doctors to finally get a diagnosis for almost anything serious.. Goes to show you how standardized things are in the medical industry.

ive had a full genetic pannel done and tested neg for everything. strangely i have a massive PE, scoliosis, small jaw and basically all the tell-tell sign of marfan. the only thing i dont have is aorta elongation/disections and eye lens dislocation. am i automatically EDS even tought i am not that flexible? i can do the thumb and wrist sign, but thats about it.

Katie, Make sure your Neurologist tests you for CADSIL. It's a Hereditary condition that starts between your 20s thru 40s. Keep trying to figure this out.✌️

16 May this year I was 25 years old, sigmoid colon burst, thought it was a stomach bug at first 🤣 Ended up with a temporary colostomy, 3 months later got a vEDS diagnosis and now waiting to see if one of my parents have it! Very interesting, my surgeon's name is Dannette Wright and looks a little similar to you!

I was diagnosed with HEDS. I couldn't get a genetic test paid for through insurance so I paid for one myself to rule vascular since I have 2 cerebral aneurysms. The test didn't show any EDS which is common enough for HEDS. I have all the markers of it though. I dont doubt my diagnosis.

My dad's family has a history of hypermobility and heart issues. Even with that, my insurance refused to cover genetic testing. So currently I'm "Ehlers-Danlos Syndrome Unspecified" I've been begging for over two years for a genetic test; my grandfather passed at 47 of sudden heart issues, and one of my aunts died in her 50s

Hello, what if i have large spleen bit i dont feel hurt any part of the body? Drinking lessen the discomfort. Is it normal?

Connective tissue diseases are scary, genetics are scary because th learn more everyday Thankyou for sharing your experiences

Got the referral to the geneticist from the cardiologist that is a genetic specialist, my whole life now makes sense ! My kids as well I feel validated that this has not been in my head

Important informations. And how are you feeling now? What is your treatment? Or preventition? I wish you all best 🙏

Thats pretty