Ask Us – Ehlers Danlos Syndrome

I got a call from a woman named Julie who was, as she put it, “ready to just give up”. Patients Rising gets calls and emails from patients pretty regularly. Every now and then we hear from someone who is desperate.

Julie and I played a bit of phone tag and eventually had a conversation.


Julie had a complex diagnosis that she didn’t want to share saying, “it’s really rare you’ve never heard of it”. She explained how her primary care doctor had strung her along post-diagnosis with no real treatment plan. Julie ‘fired’ her doctor and found a new one who claimed to have experience with her diagnosis. She tried to make an appointment but was told she had to send her records first to see if she would be accepted as a patient.

OPINION: I have mixed feelings about doctor’s asking to review a patient’s records before accepting them as a patients. On the one hand, a doctor may want to know if a patient has the kind of medical problems that they have some expertise in fixing. On the other hand, they’re primary care doctors, aren’t they supposed to have a network of specialists they can refer to if they don’t have a certain expertise? Maybe a doctor reviews those records and concludes “hey I know the perfect doctor for your particular medical issues”. Or maybe a doctor gets a stack of records and they conclude “this patient is going to take up too much of my time”. So, I’m a bit torn.


She put in requests for records from her previous doctor and the hospitals where she had been admitted. These were to be sent to this new doctor. Julie got an appointment despite the new doctor saying they had only received minimal records from one provider, but the appointment was for many weeks away. Too far away to help her when she needed help now. She also couldn’t understand how with her history of hospitalizations so few records showed up. Julie made calls. She made requests in writing. Nothing.

In the meantime, Julie was experiencing signs of an upper respiratory infection and an increasing amount of pain and exhaustion. She was technically between primary care doctors so had no one to write her a prescription or work her up. She was feeling abandoned, frustrated and hopeless yet desperate and asked “what should I do?”


First of all, to be clear, no advocate, including Patients Rising, can or should give medical advice. Medical advice must come from a medical professional. But healthcare is complicated and often times when we’re in need we don’t even know where to start to get the information to make informed decisions. Advocates can be good for that.


I told her there were three things she could try:

  1. Keep your appointment: Even if an appointment is far off you still need one. If you get frustrated and get ‘off the line’ you’ll just have to start over again. Ask if you can be contacted in the event of an unexpected opening or cancellation.
  2. If you asked for your medical records in writing over 30 days ago and you haven’t heard from the hospitals and providers you requested records from, you should file a complaint with the Department of Health and Human Services (HHS) because the HIPAA laws say a provider MUST contact you in writing within 30 days either with your records or a reason why your records cannot be provided.
  3. There are care options if you need them: If you are having an emergency you should go to the Emergency Room. Short of that, you can go to an Urgent Care Center. An urgent care center is a walk-in clinic that focuses on caring for patients who need care right away but are not having a life-threatening emergency. Check with your insurer to see which centers they cover.

Knowing she had options helped Julie a lot. Even though filing a complaint with HHS wouldn’t get her her records right away, it is an avenue of justice for when your requests are being ignored. The law is on your side. Sometimes, just mentioning that you are aware of your rights can spur some action, so know what they are. And she had never considered using an urgent care center, so there was a way to get help without going to the ER.


With a bit of hope and a plan of action Julie then let it slip that her rare disease (the one ‘I wouldn’t have heard of’) was Ehlers Danlos Syndrome. I reassured Julie that I did know about Ehlers Danlos Syndrome and had another piece of advice she might find helpful.

  • Tap into the Support Network: I told her about the Ehlers Danlos Society – a large group dedicated to bringing together patients, caregivers and professionals. I also told her she could search the internet by typing “Ehlers Danlos Syndrome + Org”. When I did, 7/10 results were for “orgs” (that is, non-profits) including the National Institutes of Health, the Mayo Clinic,, even a UK group.

Julie was relieved to know there were people who understood her rare condition.


Having a rare disease or any chronic disease often means at some point or another you’re not going to know what to do next to help yourself. There are the things we know, the things we know that we don’t know, and then there are those things that we don’t even know that we don’t know. Speaking with an advocate (like us, at Patients Rising) or connecting with your disease community can help you figure out what it is you need to know to get better access to care and services you need.


You can always ASK Patients Rising ANYTHING and we’ll do our best to connect you with resources.

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Jim Sliney Jr. is a Registered Medical Assistant and a Columbia University trained Writer/Editor. He creates jim sliney jreducation and advocacy materials for patient support groups. Jim has worked closely with several rare disease communities. He also coordinates the patient content for PatientsRising and collaborates with other writers to hone their craft. Jim is a native New Yorker where he lives with his wife and all their cats.

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