All About My Visit to the Ehlers Danlos Syndrome Specialist

It has been over 3 years since I got diagnosed with Ehlers Danlos Syndrome (my first post about it was here, in May of 2021) and in that time, I've been to the number one EDS specialist in my country (I'll call her Dr G), learned so much more about my body and how to help it, and pieced together so many pieces of my life that I never would have connected before this. And most importantly, figured out ways to actually help myself. Some of this will be a repeat of what I've written in my 2022 post about my life with EDS, but most of it will be new info, so you might want to read back on that post.

Since May is Ehlers Danlos Syndrome Awareness Month this is the perfect time for me to do a follow up post on the topic, that I'd wanted to write ever since I saw the EDS specialist. There will be part 2, what the puzzle pieces were in my life that finally fell into place once I saw the specialist.

When I first suspected I had EDS, I found out about the only specialist in my country with EDS, Dr G, and how impossible it was to get an appointment with her. She had a long waiting list, and you could only get on the waiting list with her once you already had a diagnosis (or something like that) and she'd decide if she would take you on as a client. And even then, it was really hard to get in touch with her. I had 2 orthopedists give me an official diagnosis and then I tried to make an appointment with her and then found out that she no longer worked at the hospital where she used to see patients, and they had no further information to give about how to reach her to make an appointment.

I made a Facebook group for mostly local people with EDS, and someone there knew of a private clinic where Dr G saw patients. It wasn't coverable by insurance... and it cost $575. I honestly wouldn't have bothered to go to her, because I just figured it wasn't worth the money since I already knew about EDS, already had a good PT to help me, etc... 

As I mentioned in my previous post, to get a diagnosis of hypermobile Ehlers Danlos Syndrome, there's a checklist you need to fit. You need Criterion 1, 2, and 3 to get a diagnosis of hEDS, with 1 being a test of hypermobility in joints, 3 being ruling out other potential causes, and 2 having 3 parts (A, B, and C) and you need to meet 2 of them. For A you need to have 5/12 criteria, which my kids at this stage in their life don't meet, and B is having an immediate family member with EDS, which all my kids do, and C is chronic pain in your joints or frequent dislocations or subluxations.

My youngest daughter, Rose, 100% meets the criteria for hypermobile EDS, and it helps me figure out how to help her (playing around with joints to try to get them back into place when she starts screaming in pain out of the blue). 

My older daughter, Anneleise, though, is more complicated. She doesn't meet the criteria for hEDS because her joints aren't particularly hypermobile, according to both my physical therapist and 2 rheumatologists we brought her to. So despite the chronic pain and an immediate family member with EDS, she doesn't have hypermobile EDS. We've tried to figure out the cause of her pain, with many different appointments, and so far got nowhere. 

I decided to go ahead and pay that money to go to the EDS specialist, because I knew that I'd only be able to get genetic testing to determine what type of EDS I have if I went to Dr G. When you fit the diagnostic criteria for hEDS, you only officially get the diagnosis for hEDS once you genetically test for the other ones and don't come out positive for that, since other types can also cause hypermobility. They haven't found the gene or genes yet that cause hypermobile EDS but they know the genes that cause the other ones. If I got genetically tested and I came out positive for some other EDS type, then that would be the cause of my daughter's chronic joint pain, even without hypermobility.

My appointment was one of the most expensive doctor appointments I ever paid for, but it was one that felt completely worth it. My appointment was so extremely thorough and covered everything from family background, my entire medical history from my mom's pregnancy with me and on, any medical issues in my family from my grandparents to aunts and uncles to nieces and nephews, plus an examination of my facial features, my mouth, joints and skin all over my whole body. The appointment lasted over 3 hours!

At the end of the appointment, I got a list of treatment recommendations, first of things for myself to do...

1. Live life in a way that doesn't put stress on my joints, and know my limits. 
   
   
2. Regular exercise to keep my muscles and function as good as they can, including regular aerobic exercise throughout my body without weights or stress on my joints and swimming every other day (3-4 times a week) on a regular basis.
   
   
3. Eat 5-6 small meals a day, with carbs. veggies, fats, and protein, with an emphasis on the protein, veggies, and olive oil.
   
   
4. Drink 2-3 liters a day.

And an even longer list of referrals so my insurance would hopefully pay for these things:

1. Orthodics.
2. Go to the hypermobility rehabilitation clinic at the hospital where she used to work and get the following:
1. Physical therapy from a PT that knows hypermobility well, to give me a treatment program to strengthen my muscles and improve proprioception, as well as manual physical therapy.
2. Hydrotherapy from a physical therapist who is familiar with hypermobility, who can build me a program that I can do on my own time on my 3-4 times a week in the pool.
3. OT to help my stability.
4. CBT for pain.
3. Go to a maxillofacial (face, jaw, and mouth) specialist who is familiar with symptoms of soft tissue disorders.
4. Schroth style PT for my kyphosis and lumbar lordosis (different improper curvatures of the spine).
5. Regular rheumatologist appointments.
6. Yearly gastro appointments to make sure I'm not developing any of the more problematic stomach issues associated with EDS (on top of the ones I already have, IBS and reflux).
7. Pelvic floor PT.
8. Seeing a specific eye specialist familiar with EDS to check for cataracts and a whole bunch of other symptoms that can be caused by it.
9. Seeing a cardiologist to have an Echo to check for a bunch of features associated with EDS.
10. Bone density test.
11. Go to a geneticist to test for which type of EDS or soft tissue disorders I have (she specifically suspects classic EDS). Get genetic testing for my kids as well.
12. Go to a dysautonomia specialist.

Yup. That was quite a long list of things to do. And nope, it has been over a year and I haven't made my way through the whole thing.

So for the first list:

1. I am trying to live my life in a way that respects my limitations. It is hard. Especially as a single mom. But I do try avoiding things that would put stress on my joints, even if it means missing out on fun.
   
   
2. Regular exercise is something that has been... less common. For various reasons, I didn't go swimming for a bunch of months, and just went swimming again last week and got reminded that one of the things that makes it harder for me to go swimming regularly is ear pain that I have... but I finally potentially found a solution, which I'll elaborate on in my next post on EDS.
   
   
3. I've really tried to eat smaller more frequent meals, with a focus on protein, veggies, and healthy fats, but it is really really hard for me to do this because it means preparing a lot of food in advance and dividing it up and remembering to eat. I have a hard time remembering to eat even 3 times a day, so 5-6 is really challenging for me. I managed to do this for like 2 weeks but gave up. However, one thing I have done is that whereas in the past, if I was feeling peckish I'd go for a carb, now its more often than not something with protein, like cheese, apples and peanut butter, veggies and cream cheese, or nuts. So that is something.
   
   
4. I have been drinking 3-4 liters a day, because I noticed that 2-3 isn't enough. This doctor told me that I didn't need extra salt, because I can get enough salt from my food, but even when I drink my sports drink, before I updated the recipe to have more salt, I was peeing non stop and it wasn't having the effect I needed it to have on me. But once I fixed the recipe to have more salt, and I make sure to drink enough, I feel such a difference to my dizziness and exhaustion levels (and no longer need constant trips to the bathroom). 
   
   When I had strep throat and it hurt me to drink so I wasn't able to drink more than 1.5-2 liters of liquid, I got so dizzy and went to the emergency late night doctor to get an IV but he refused to give an IV because I didn't look dehydrated to him, and unless I was able to pee in a cup and show him via my urine that I was dehydrated, I couldn't get an IV.
   
   I was really frustrated about this, and I asked in my local EDS support group what to do, and upon their advice, I brought the paperwork from this EDS specialist to my PCP who then put in my medical files that according to the specialist I went to for my issue, I need to drink 2-3 liters a day and if I can't manage to drink that much, they should give me an IV. Fortunately I haven't been sick like that again, but I'm hoping that with that in my chart I won't deal with that refusal again.

As for the list of medical referrals...

1. Haven't gotten around to getting orthotics.
   
   
2. I went to the initial appointment at the hypermobility rehab clinic and only realized when I got there that my insurance hadn't approved payment for there. I paid cash (fortunately it was only 40 dollars). When I tried to get permission from my insurance to pay for it, they told me that I should just go to PT at the PTs who work this this HMO and orthopedists through the HMO. I appealed this and explained why I needed this specifically, why this is the only place in the country that specializes in what I need, and when I went to non specialist PTs they literally injured me more, they rejected my appeal.
   
   Finally I spoke to a higher up at our local branch of the HMO who has more sway with them, and I told her that if they didn't approve payment for it and other EDS related things, I'd switch to a different HMO that I know does pay for these things. The HMO does try to retain clients, so maybe they'd listen. I don't know. I'm swill waiting for an answer. If they don't approve, in addition to probably switching (which would be a huge pain because it means starting over with new docs again), I might just pay for a private hydrotherapist who knows EDS who can build a hydrotherapy routine for me to do when I go to the pool a few times a week.
   
   
3. I didn't go to a maxillofacial specialist because I didn't think it was that urgent because my TMJ didn't seem like such a big deal, but I found out that it could be affecting me in ways I hadn't realized, so I'm going to try to schedule an appointment now.
   
   
4. I didn't go to a specialized PT, yet... not sure if I will. My PT said she'd try to learn more about the Schroth method and use it to help me, but that hasn't happened yet.
   
   
5. Haven't been back to the rheumatologist yet. Didn't see the urgency. 
   
   
6. Haven't made an appointment with the gastro yet, but will get around to that.
   
   
7. My PT is a trained pelvic floor PT, and the same PT I do for my pelvis going out of place because of EDS is the same thing that helps with pelvic floor issues in general.
   
   
8. I went to see the specialist for cataracts who is familiar with EDS eyes, and fortunately have no cataracts... Of course the insurance refused to pay for this specialist and I had to pay cash for it... But I found out what things I should be on the look out for, and she told me to go to an eye specialist 6 months after, with my list of prescription changes over the past few years... so I'm going to try to find an eye specialist who my insurance covers and see if they can do that, and if not, I guess I'll be paying privately again.
   
   
9. I went to the cardiologist, got a referral for an echo, and now just have to schedule that. This cardiologist told me that contrary to what the EDS specialist said, the salt in my sports drink isn't enough, and I need to be having even more salt, so I'll be ordering some salt pills.
   
   
10. I got my bone density test and now am waiting for results.
    
    
11. I went to a geneticist, fortunately my insurance paid for this. I got a referral for the specific genetic testing, and am waiting for the results of my genetic testing, which they said can take up to 4 months. So hopefully soon we'll know exactly what type of EDS I have, and I'll have answers about my daughter.
    
    
12. I haven't yet been to a dysautonomia specialist. I am still trying to figure out which one my insurance will cover, or if there's a way to get my insurance to cover one not typically in their network.

I have to say... not bad. I did do most of the things on the list, and the things that I haven't are mostly in progress.

I will elaborate in my next post on EDS why she wanted me to do all those things, about different ways I learned that EDS can affect the body and how it is affecting mine in ways I never would have thought; it is fascinating.

My oldest needed a physical for something official and when they asked about family medical history of genetic issues and he mentioned that I had EDS, they sent him to get tested for this. So even though my son doesn't have any of the regular pain I do, or any "major issue"... I ended up bringing him to this EDS specialist and... he officially has a connected tissue disorder as well.

Whether it is EDS or not, we can't know for sure at this point until I have results from my genetic testing, and until/if he starts getting regular joint pain or subluxations/dislocations... but a connective tissue disorder wasn't even a question... And the list of things she gave for him to test out is nearly as long as my list too... But haven't started that for him.

Anyhow, this post is quite long and I hope it can help out you if you also are dealing with anything like what I am, or if you were just curious about EDS.

If you have EDS, were you also given a long list of things to do like I did? How many of them did you get done?