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abbilouParticipant
Thats Dr Byers at WA EDU. The leading expert on Vascular EDS.
Hon, do you know what he can screen for? Vascular, I assume… Marfans? Loeys-Dietz? Athrochalasia form? etc? As most of you know, a HUGE number of us suffer from the “Hypermobility form” or the “Classical form”. There has never been a collagen disorder found for Hypermobility type, nor for about 50% of the Classical form. I don’t think there is a genetic defect in collagen (you heard it here first, and you heard me right!). Nope, I think it has become a “dumping ground” for anything that results in joint hypermobility — some of it is treatable, I believe. That is where much of my research is focused. It is CRITICAL to rule out vascular, etc., and I’m trilled they can do this! Has anyone tried to do this with their 23andme yet? I wonder if those forms are in there… Thanks so much! 😉
The Collagen Diagnostic Laboratory (CDL) is housed in the Department of Pathology at the University of Washington, Seattle, WA. The CDL offers diagnostic testing for osteogenesis imperfecta (OI), several forms of Ehlers-Danlos syndrome (EDS), and select other connective tissue disorders. We also provide consultation for clinicians and families with questions on these rare disorders, review x-rays and clinical history, and offer research testing and enrollment in research studies.
Byers is the researcher who found the mutations that causes VEDS. Brilliant man.
abbilouParticipantThats Dr Byers at WA EDU. The leading expert on Vascular EDS.
March 26, 2013 at 12:35 am in reply to: Anxiety Disorder, Panic Disorder and Bipolar II confused with POTS #3568abbilouParticipantIm pretty sure nearly every eds-er and POTSy you ask they’ll say mental health diagnoses came first.
abbilouParticipantNo. The infusions are for the POTS. It’s a hydration therapy, but because of the EDS and POTS her veins can’t handle IV’s so she needs either a PICC line or PORT inserted to have more infusions
abbilouParticipantThere are 3 NC Doctors listed on the dinet.org website. Maybe one of them could help.
Some things that may help in the mean time. We follow a pretty strict routine to give her the best chnace of functioning each day, but of course its along with meds but they may help some while you guys try to see a new Doctor.
She drinks 33 ounces of Gatorade before getting out of bed. I put her constriction stockings on her (she can’t do it herself and wears only knee high because later she wouldn’t be able to pull them up alone if she goes to the rest room) lower level stockings dont need a prescription. She stays in bed until she is fully awake and hydrated. She never bathes in the AM because the standing and/or hot water is a trigger and AM is the most difficult time for Pots. She also does not wash her hair standing since her arms would be above her head. She eats a high sodium high protien breakfast. She continues to drink large amounts of fluid (water, broths, coconut water) through out the day. Our Doctor suggested 3-4 liters a day. And I know it’s very hard to do but doing some light exercise through out the day can help. It may be she can only do some laying and sitting but it helps get the blood pumping vs pooling in the legs. When resting reclining vs laying can help. Some sleep with their upper body elevated. She may find shifting her day a bit so she is more active (granted untreated and sometimes treated pots people can’t be active at all) In the afternoon vs mornings can help. It is best to try to not sleep all day. I know when my Daughter was untreated she slept off and on all day and night. She struggled terribly with fatique, exhaustion and insomnia. Maybe others here can offer more suggestions. Dinet.org and dynakids.org has lots of info also.
It’s so difficult to watch our children suffer so greatly. I personally had POTS before, so I got it fast what was happening to her. When I had it in the 90’s I fainted every time I stood and no Doctor helped. I got crazy lucky that post pregnancy with her it just went away. I get minor symptoms now occasionally. So upon her symptoms I was very worried that like me before she would just suffer and no one could or would help. I never knew the name of what had made me so sick. Like you guys a random Doc (Psych) commented maybe this is POTS (not something he was able to treat etc). That was the moment that led to getting her better. It took close to a year from then and some useless Doctors before we found a brilliant Pots Doctor. Having a name for what is likely wrong is a huge step in the right direction.
Hope one of the Doctors on the dinet.org site can help you guys or at least suggest a doctor closer if those are too far. Good luck!
abbilouParticipantI am so sorry the Doctor blew her off today. Most everyone here and in the POTS and EDS community has been blown off time and time again. It took us over a year to get a proper diagnosis for our Daugther once she reached the bedridden aspect of untreated POTS. A leading Ped Cardiologist totally blew us off. It is very difficult to go through the illness and then have the added disappointment and worry that no one will help. I am very sorry your family is experiencing it also.
What other symptoms does she have besides fainting? What city are you in? (someone may have a doctor suggestion). Do you know what her pulse rate and BP are while at rest, then after sitting and then again after standing up?
abbilouParticipantHope you have a good appointment.
abbilouParticipantIf flying to see a Doctor, I would choose Baltimore also. Unless the recommended Doctor is well skilled in connective tissue and other skin related conditions and going there is far more workable than Baltimore because you’d have things like support, a free place to stay and transportation. I’d honestly only pick someone other than Dr Francomano because financially it was impossible to see her. There is however an extremely long wait to get in. I’d jump at the chance to take my Daughter for a consult with her if I could.
abbilouParticipantI should have said ask the doctor about them first.
I have considered keeping my Daugther in her stockings 24/7 but am not sure it’s really ok. If it were me I could gauge it based on how everything feels but with her I’m left guessing. Do you keep them on while sleeping, Barbara? She only wears knee Highs because she is not able to pull them up and down by herself. Hopefully she will be able to upgrade to full ones someday. I’m considering just getting an ab one to wear along with the knee highs.
abbilouParticipantI believe the crazy veins and reason for aggravated sympotoms during crazy vein time is a result of blood pooling. Do you wear constriction stockings? They are made for feet, legs, abdomen and even arms.
I have nails like yours. They have the red stripes as well as I have ridges down the length of my nails. I have never known why.
abbilouParticipantWe ended up deciding for now to go the anti nausea medication route to keep her in school. Really did not want to add yet another medication. She takes so many, but for now it’s the option that works until we can work out which illness is causing the tummy issues and if we can possible correct it vs medicating it. It’s like every time we think finally we can begin to move forward yet something else says “oh no you don’t”.
I have no clue if there is a Mast Cell educated Doctor here in the Portand Oregon area and the idea of yet another possible DX is daunting. We are still awaiting word on the MRI DX and geez she has so many others already. I’ve kind of reached the point of just not knowing where to go from here. She is having to switch some of her Doctors due to an insurance change and I find it rather scary. We do get to keep her POTS Doc and I am hoping her Geneticist as well. But finding a PCP who knows EDS/POTS etc is still not working out.
abbilouParticipantI hadn’t seen this before posting a thread about tummy problems. My daughter is having issues also, but they’re different than what you’re experiencing. Hope you can find help.
abbilouParticipantWell it took several weeks for the Neuro consult that amounted to nothing. She felt it was likely a migraine disorder, but has no experience with the kiddos conditions nor has much of her history. The kiddo hasnt ever had a migraine and it would seem if the lesions and such in her brain were due to migraines she would have had the migraines first or with. But obviously I do not know. So after a month of waiting they have referred her to a Ped Neuro. Could have just said that all along. From research my guess is it’s to do with EDS or suggesting different connective tissue disorders or a new thing related to EDS. VEDS was never ruled out (and left on the table by the Geneticist) and so I’m thinking we need to do that given there appears to be vessel involvement in her brain.
I am curious if anyone knows if the “relative sparring of brainstem and posterior focca” is another way to say scarring or lesions? I also haven’t clue how to find a Nuerologist with experience in EDS, POTS ETC… Ideally I’d like to take her and her history us to Seattle for Dr Byers opinion. Don’t believe that is possible with her insurance.
abbilouParticipantMy daughter takes it and for her it has been one of the most helpful drugs for dealing with the POTS. Years ago she was diagnosed with an anxiety and mood disorder, but it wasnt until insomnia from the pots became a huge issue that clonzapam was prescribed.. Didn’t help the insomnia but I noticed right away she was so much more able to deal with the pots symptoms so we switched it to a morning med. Anxiety/panic has a negative impact on pots symptoms as well as pots symptoms has a neg impact of the anxiety/panic and it’s really help that. Oddly the insomnia improved once we switched it to mornings. Seems less panic/anxiety during the day helped for sleeping.
Hope it’s as helpful for you as it has been for my daughter.
abbilouParticipantDoernbechers Pediatrics Cardiology office were the ones to find my Daughters enlarged aorta which lead to Doernbecher’s Pediatrics Genetics diagnosing her with EDS and finding her scoliosis. They admitted they may not be our top options for the POTS, but would be willing to learn and help if needed, but luckily I had found a POTS specialist that we were waiting to get into.
We had a really good experience there after a year of other Peds Cardiologist blowing us off. I almost didn’t make an appointment at OHSU because of the things people say but I’m so grateful I did because they were the first Doctors to take us seriously and thankfully found her enlarged aorta. Before we knew it was POTS I outright asked a well known ped cardi here how do we know she won’t be one of the kids who suddenly collapases with no warning and doesn’t survive it. He laughed at me and never bothered to actually look at her heart at all. Within 5 mins of entering the OHSU cardi office they realised no one had bothered to look at her heart given all the symptoms and did it immediately and had the results read within 15 mins. Not knowing she has the enlargement could mean the difference of life and death, so I will always be grateful for 2 very caring and concerned Cardiologists at Doernbecher. Her Geneticist was equally kind with great bedside manners and very knowledgable. The Geneticist will see her yearly and will answer questions if something comes up, but they do not manage the day to day care of the patients.
We now use Dr Emelia Arden with NW Cardiology because she is a POTS specialist who is very very knowledgable in regards to EDS and the other conditions associated with POTS and EDS. She treats patients 13 and up with POTS. (she made an exception for my daughter since she was not 13 yet). She knew to look for Chari and some other things and suggested treating mast cell based on an office visit vs more tests. She hugs and holds my daughters hand which might weird some out but for the kiddo it makes her feel like someone really cares and understands.
We do need a neurologist. Not sure if we could take her to the one in Bend. So if anyone can suggest on around Portland that would be great. 🙂
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