Ehlers Danlos Syndrome - Who is the best doctor to see?

Posted by lovemyfamily2003 @lovemyfamily2003, Aug 26, 2020

Hello, my teenage daughter is being evaluated soon by cardiology, for possible EDS diagnosis. I believe the hypermobile kind of EDS. Who is the best doctor to see? Are there good doctors for this at the MN location? Thank you.

Interested in more discussions like this? Go to the Bones, Joints & Muscles Support Group.

I'm so glad to be warned in advance. Shoot. What a shame he does not inspire trust and confidence in those who have been treated by him. I have a call from Genetics later today, to discuss the referral. What choice do I have but to be polite and cooperative, since he is the only person in a position to diagnose me that I'm likely to get an opportunity to see.

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@csalter

I'd like to find someone soon. My quality of life is low and becoming worse as times go on. I'd like to be able to function better. I'd like to go back to school (and still work for Mayo), but I cannot anytime soon due to my health. It's affected my depression and somedays I can barely get out of bed. I completely understand how some EDS patients take their own life. I can't blame them. I'm almost in that boat.

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There are functional medicine providers in the Twin Cities who treat EDS for cash (not insurance). I found them through a search. I'm sure they could help you. Don't give up. Functional Medicine doctors are amazing.

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@colleenyoung

Hi @lovemyfamily2003, welcome to Mayo Clinic Connect. I've merged your 2 messages into one thread that can be accessed from both the Bones, Joints & Muscles group and the Visiting Mayo Clinic group. I also added it to the Heart & Blood Health group. That way everyone will be brought together in one place.

Let me connect you with other EDS members and discussions that I think you'll find helpful. Members, like @lisafl @jthigpen @kariulrich @blossom2016, can share their experiences with EDS, some of whom are treated at Mayo Clinic MN or FL.
– Chronic Erythema Nodosum & Ehlers-Danlos Syndrome (EDS) https://connect.mayoclinic.org/discussion/chronic-erythema-nodosum/
– Possible Ehlers-Danlos Syndrome with craniocervical instability https://connect.mayoclinic.org/discussion/possible-ehlers-danlos-syndrome-with-craniocervical-instability/

@katemschultz posted a similar message as you did when she was preparing for her first EDS visit to Mayo in Rochester
– What to expect at Mayo Clinic, Rochester https://connect.mayoclinic.org/discussion/what-to-expect-at-rochester

@lovemyfamily2003, I would be inclined to recommend the Mayo location closest to you. You can read more about EDS care at Mayo Clinic here: https://www.mayoclinic.org/diseases-conditions/ehlers-danlos-syndrome/care-at-mayo-clinic/mac-20362179 The Mayo advantage is that teams work together. Thus, regardless of location, your daughter will benefit from the shared expertise of all the specialists.

What symptoms does your daughter have that have led to you and her physicians suspecting Ehlers-Danlos syndrome?

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Thank you so much for your response. Actually, the patient is myself and I feel that I have had symptoms for many years that have been misdiagnosed. Symptoms: knees that gave out as a child into young adulthood; constant need to crack knuckles, neck, and back from childhood on: double jointed, esp in hands; severe insomnia most of my life; scoliosis;; gi problems including reflux and fecal incontinence; urinary incontinence; RLS for past 18 years;stretchy loose skin over back of hands, diffuse migrating joint pain and back pain; recent pancreatic insufficiency; orthostatic hypotension. Also type 2 diabetes. I have been sent from specialist to specialist including rheumatologists with no satisfaction. I am now depressed and ready to give up. No real pain relief. By the way, I am 68 years of age. I worry about passing genetic disease to my daughters and grandchildren. My mom has severe hypnosis and my sister's have scleroderma and crohn's disease. Thank you so much even for the opportunity to share my frustration. Thanks for listening.

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@dianeehlinger

Thank you so much for your response. Actually, the patient is myself and I feel that I have had symptoms for many years that have been misdiagnosed. Symptoms: knees that gave out as a child into young adulthood; constant need to crack knuckles, neck, and back from childhood on: double jointed, esp in hands; severe insomnia most of my life; scoliosis;; gi problems including reflux and fecal incontinence; urinary incontinence; RLS for past 18 years;stretchy loose skin over back of hands, diffuse migrating joint pain and back pain; recent pancreatic insufficiency; orthostatic hypotension. Also type 2 diabetes. I have been sent from specialist to specialist including rheumatologists with no satisfaction. I am now depressed and ready to give up. No real pain relief. By the way, I am 68 years of age. I worry about passing genetic disease to my daughters and grandchildren. My mom has severe hypnosis and my sister's have scleroderma and crohn's disease. Thank you so much even for the opportunity to share my frustration. Thanks for listening.

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The above statement should have read: My mother has severe kyphosis Don't you just hate "auto-correct"?

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Hi, Does anyone have any information on TIA's in regards to EDS? Recently my 34 year old daughter has experienced episodes of a couple of days that she felt extreme tiredness, then she has numbing on left side, even tongue and face, hard to swallow etc…presently she is also in rehab facility after having the initial episode, that has left her with left side paralysis, unable to move or walk. She has had two more occurrences since then…all affecting left side. Although throughout the years many new symptoms and conditions have presented themselves, this one is by far the worse. As mom, I am just trying to seek any information that may assist in a hopeful positive outcome. I am trying to get a neuro consult, however, not any easy task and especially with the ignorance of the common medical has no idea even what EDS is and finds it easier to want to diagnose more of a "head-issue". I laughed when they told me this, and laughed harder when I told them that even an individual that is having the worst day ever cannot will themselves to have paralysis etc…This has been a learning journey for sure…however, her whole life is crazed now since she herself is a nurse , and cannot even begin to understand any of this. So, any information in regards to this would be a welcome. Thank you in advice for anyone's one time and knowledge of any of this. Individuals with EDS, hypermobility, etc…are not medical textbook cases. Even after asking one doctor what experience and knowledge they had in regards to EDS, was told that there was a few paragraphs mentioned in their medical books, Thank you again in advance for any direction or input. Have a good day.

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@moms34eds

Hi, Does anyone have any information on TIA's in regards to EDS? Recently my 34 year old daughter has experienced episodes of a couple of days that she felt extreme tiredness, then she has numbing on left side, even tongue and face, hard to swallow etc…presently she is also in rehab facility after having the initial episode, that has left her with left side paralysis, unable to move or walk. She has had two more occurrences since then…all affecting left side. Although throughout the years many new symptoms and conditions have presented themselves, this one is by far the worse. As mom, I am just trying to seek any information that may assist in a hopeful positive outcome. I am trying to get a neuro consult, however, not any easy task and especially with the ignorance of the common medical has no idea even what EDS is and finds it easier to want to diagnose more of a "head-issue". I laughed when they told me this, and laughed harder when I told them that even an individual that is having the worst day ever cannot will themselves to have paralysis etc…This has been a learning journey for sure…however, her whole life is crazed now since she herself is a nurse , and cannot even begin to understand any of this. So, any information in regards to this would be a welcome. Thank you in advice for anyone's one time and knowledge of any of this. Individuals with EDS, hypermobility, etc…are not medical textbook cases. Even after asking one doctor what experience and knowledge they had in regards to EDS, was told that there was a few paragraphs mentioned in their medical books, Thank you again in advance for any direction or input. Have a good day.

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Depending what star you are located, I know that St Louis Barnes hospital does not have adult care for EDS

Genetic testing rules EDS whether you have it or not, but then finding a geneticist is a chore in small towns

My genetic doctor did DNA testing I have the results but she recently passed away so on Illinois Medicaid I am stuck for further testing which gen-x results said to have further testing, but it ruled out EDS but I have Hypermobility and I have bad genes so need further testing

I lived in North Carolina when I became unable at age 55 to take care of myself and my ex husband in Illinois took me in to caregiver for me

In Asheville North Carolina there is a good EDS place to go it’s called Mahec, if you are insured and in the area I recommend going there and also recommend genetic testing

I myself have all the symptoms of EDS but it is not because the scale they use one thing cancels out another yet many markers of EDS, yet thankful the DNA testing says something is wrong which we knew because muscles are not working correctly

If by chance she has Hypermobility it in itself can cause many joint problems and recommend physical therapy to help with that

I hope you get answers sooner than later, bless you both !!

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@moms34eds

Hi, Does anyone have any information on TIA's in regards to EDS? Recently my 34 year old daughter has experienced episodes of a couple of days that she felt extreme tiredness, then she has numbing on left side, even tongue and face, hard to swallow etc…presently she is also in rehab facility after having the initial episode, that has left her with left side paralysis, unable to move or walk. She has had two more occurrences since then…all affecting left side. Although throughout the years many new symptoms and conditions have presented themselves, this one is by far the worse. As mom, I am just trying to seek any information that may assist in a hopeful positive outcome. I am trying to get a neuro consult, however, not any easy task and especially with the ignorance of the common medical has no idea even what EDS is and finds it easier to want to diagnose more of a "head-issue". I laughed when they told me this, and laughed harder when I told them that even an individual that is having the worst day ever cannot will themselves to have paralysis etc…This has been a learning journey for sure…however, her whole life is crazed now since she herself is a nurse , and cannot even begin to understand any of this. So, any information in regards to this would be a welcome. Thank you in advice for anyone's one time and knowledge of any of this. Individuals with EDS, hypermobility, etc…are not medical textbook cases. Even after asking one doctor what experience and knowledge they had in regards to EDS, was told that there was a few paragraphs mentioned in their medical books, Thank you again in advance for any direction or input. Have a good day.

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Hi Mom34eds,
I think you will find this clinical research of interest. While the nervous system is not considered a primary target of EDS, it is getting more attention
– Neurological manifestations of Ehlers-Danlos syndrome(s): A review (2014) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4300794/

See this excerpt:
This comprehensive overview of neurological findings of EDS is "organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral."

Is your daughter currently in the care of a physician with expertise in Ehlers-Danlos syndrome? How is your daughter doing in rehab?

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@colleenyoung

Hi Mom34eds,
I think you will find this clinical research of interest. While the nervous system is not considered a primary target of EDS, it is getting more attention
– Neurological manifestations of Ehlers-Danlos syndrome(s): A review (2014) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4300794/

See this excerpt:
This comprehensive overview of neurological findings of EDS is "organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral."

Is your daughter currently in the care of a physician with expertise in Ehlers-Danlos syndrome? How is your daughter doing in rehab?

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Hi Colleen, Thank you for your well needed information. And as per your question , no she is not under the care of a physician with expertise in Ehlers-Danlos syndrome….;o( They are hard to find and up to this point had been holding her own s0-t0-speak. And as per rehab…it has been a journey for sure!! She is getting OT/PT however, has had 2 more events that led up to being unresponsive-not remembering anything …and sent to Er only for them to release back to facility with no answers or even the desire to find some. She still has paralysis on left side that seems weaker with each event. I am trying to get an outside neuro consult for her, however like going through fort Knox since she is considered under "there" care at the rehab facility. I did get an ortho consult, but ortho said not ortho and needs neuro. I will read the site you offered…thank you again. Have a good day.

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@moms34eds

Hi Colleen, Thank you for your well needed information. And as per your question , no she is not under the care of a physician with expertise in Ehlers-Danlos syndrome….;o( They are hard to find and up to this point had been holding her own s0-t0-speak. And as per rehab…it has been a journey for sure!! She is getting OT/PT however, has had 2 more events that led up to being unresponsive-not remembering anything …and sent to Er only for them to release back to facility with no answers or even the desire to find some. She still has paralysis on left side that seems weaker with each event. I am trying to get an outside neuro consult for her, however like going through fort Knox since she is considered under "there" care at the rehab facility. I did get an ortho consult, but ortho said not ortho and needs neuro. I will read the site you offered…thank you again. Have a good day.

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Moms34eds, allow me to provide the contact information for Mayo Clinic if you would like to inquire about seeking care here: http://mayocl.in/1mtmR63

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My daughter is suffering from SMA syndrome and gastroparesis caused by hypermobile Ehlers-Danlos Syndrome. Can anyone recommend a doctor who can help us? Her gastroenterologist will only consider a nasal feeding tube, which her body did not tolerate, and will not consider any other treatment for her. We are desperate.

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