Ehlers Danlos Syndrome, MCAS, POTS, and MALS

Mayo Jacksonville, Florida, has an EDS/hyper-mobility clinic. The wait for an appointment is long, and the genetic tests are sent out to a third party. They refer you to occupational and physical therapy, and order any other necessary tests for diagnosis. To my knowledge, there is only one doctor running the clinic, but he is very good.

Hi I'm new to this sight and have a child with EDS hypermobility type 1 diagnosed 2 years ago. There is really no specific doctor for this in my area. I 'finally got her into the genetics clinic last month and yes it took 2 years. Finally we can get the EDS panel. she had been seeing a neurologist for 5 years for headaches and it was when I switched neurologists they found she has a Chiari 1, in addition she has had syncopal episodes and said they are not related. They did an EKG and Echo which showed 2 "trivial leaky valeves" and essentially said do not worry about it. I only knew 1 other person whose brother died from EDS due to his Aorta bleeding. Can you please let me know are these sx all related to EDS: headaches, syncope, red skin blotches that come and go with the sun, scoliosis, chiari 1 and every day stomach pain?? We get different answers with each doctor. Please let me know who is best at following her as this search for answers is exhausting and frustrating. She also has hypoglycemia, Low Iga, low Ceruplasm and Low acety lab tests. Her first cousin has FMD and had a Spontaneous Coronary Discretion that caused her to have 5 stents to her LAD and now has a DeFibrillator. I am concerned for my daughter so any help is appreciated. I am really proactive for her to live her life as she is going to college next year and she needs to stay proactive. She has seen many specialists and only 1 doctor Prescribed PT for hypermobility, but when your daughter states "Mom why dont they believe me" It is heartbreaking. Thankyou!

EDS is insidious and doctors knowledgeable in the syndrome are rare. I have it and as I have aged, it’s symptoms have increased. There is an EDS society that may offer some help but there is little in the US. You can Google it (inDC). Children’s hospital in DC had a geneticist (Dr. Rosenbaum I believe) who knew the most. My retinologist and pain doctors know quite a lot as does my orthopedist so I have not moved. It is hard to find and much research is in Northern Europe since that is the origin of the Syndrome. Wish I could offer you more help. It is a constant battle of what food help, etc. and keeping the body strong. Processed food is to be avoided and keeping the body active but rest when needed is essential.

I started using cbd gummies. Has helped me immensely. I'm a hyper Ehlers Danlos sufferer also. Had gastroparisis and found that it was a med gabepentin that was causing most of my issues. I got off it and within 6 months was eating instead of drinking my meals again. You have to be slow about it. Unfortunately our tummies will never work the same as others but it is manageable. It is a struggling battle and very depressing but cbd gummies helping with that also. Alk the tenderness has almost subsided but still is very manageable now. I was in braces from head to toe and now I use none ( it took me a year of slow physical therapy and cons but life is so much more worth living now) Got to be careful tho to get good source as many are fake out there. Be willing to share my info if you would like. God bless you on this horrible journey. Be with you in prayer my fellow sufferer.

@mhjs123 I have a lot of sympathy and support for your daughter when she says "... why don't they believe me?" There is a very simple answer. They just do not know how these things work. Every cell in a person's body responds to every other cell in some way. And every variant responds to every variant. So to demand that the diagnoses all show exactly the same response is beyond reason in a body with half a billion variants. Each will show , perhaps, a few thousand modifiers for the body, each responding in its own way. True, there are some general patterns of response, but no "one size fits all." And most doctors just do not know this much about genomics. The best thing you can do is to do an insurance-covered Whole genome analysis, and learn if she has genetic and variants which account for that response. There are several labs which can help you with this if your Primary will let them. oldkarl

I’m so sorry they haven’t been much help. I’m from Michigan and was sent to Mayo in Rochester in 2017 for my hEDS/cEDS diagnosis. I still have not had any genetic testing, but with my grandmother’s medical history and my own they didn’t need it.

I hope you are able to find a doctor/clinic that can help.

Welcome, Shannon. That is helpful to know that you didn't have to go through genetic testing (or the cost) since your grandmother's medical history and you own diagnoses of hEDS/cEDS comfirmed the genetics.

Pharmacogenomics can be helpful for people with EDS. Pharmacogenomics— also known as pharmacogenetics or PGx — uses a person’s genetic information to predict the way they may react to a drug. It combines the sciences of pharmacology (study of drugs) and genetics (study of DNA/genes). People with hEDS often have challenges with medications and have unfavorable drug experiences because their genetic makeup prevents them from metabolizing some medications.

@macrdo @shannev @carolinebrown1995 @mhjs123 were pharmacogenetics ever discussed with you?

No not at all, my daughter is getting a saliva specimen in the mail, still do not have it yet.
Question? Does the saliva test tell the pharmacogenetics of it in the EDS Panel?
thanks in advance! Mary

my girlfriend has gastropareses, she uses Reglan, have you tried this medication which helps the GI tract to empty the stomach when you eat. It increases peristalsis.

Hi yes any information will be much appreciated. Do you know if EDS causes hypersomnia? My daughter had to go on Concerta to focus in school>
Thankyou! Mary