"Suffering the Slings and Arrows of Outrageous Fortune"

So, Em saw Dr. Neilson on Wednesday for a follow-up. This is our 3rd visit with him and, I have to say, every time we see him I like him more and more. (And I liked him plenty the very first time we saw him!) I know I felt that he was stepping into some very big shoes after Dr. Tinkle left but I just feel that he is rapidly growing into a full fledged, very impressive EDS expert and is really looking at how to best treat this difficult population. I have a lot to say about this visit, so I will divide it into two parts.

Last time we saw Dr. Neilson, he sent Em to Cardiology to the Syncope Clinic for treatment of her Autonomic Dysfunction. Dr. Anderson put her on Midodrine and it helped immensely. Made a huge difference in her quality of life. But, unsurprisingly, she has drifted back into her regular struggles with poor sleep and fatigue and the Midodrine is not quite as effective as it was in the beginning.

I have said for 3 years that If we could just address those two core problems of poor sleep and fatigue, her quality of life would be vastly improved…

So, lo and behold,  Dr. Neilson walks into the room and addresses it aggressively, saying that it is great that the Midodrine is helping but it isn’t enough and he is experimenting with prescribing beta blockers for his EDS patients who are experiencing ongoing sleep and anxiety issues, a midst their autonomic dysfunction. When I suggested that I could call the cardiologist and ask about it (we don’t go back until Jan) he basically said cardiologists are not seeing the whole picture on this. They tend to feel that if tachycardia is not causing a person to faint, all is well but Neilson says it isn’t… there is a slew of nasty chemicals being released constantly and this will be detrimental over time and cause serious short term issues.

[Now, I seem to remember that Dr. Anderson said that there were a few meds that we could try and it seems like beta blockers were on that list, but I wasn’t going to argue with Neilson – especially when he knows more about the situation than I do. (See, I can play nice with a doctor when the situation presents itself!) I honestly couldn’t remember if beta blockers were on the list of possible meds Dr. Anderson talked about or if I just *thought* I heard him say that because it is a logical next step. The fact that we finally have a doctor willing to address these issues was pretty awesome – now, not 6 months from now. No, I wasn’t going to argue with him on this one!]

Anyway, if you can intervene with a beta blocker, you might be able to calm that cycle down and achieve better sleep and reduce anxiety. (Seems to me that he is taking a page from Dr. Pocinki’s work on the adrenal system in EDS. Here is an old article from Dr. Pocinki – pertinent references to anxiety and sleep start on page 10. Here is a more recent presentation he did at the EDNF conference this year. I have LONG been convinced that Dr. Pocinki is on to something really crucial for EDSers.)

Now, I know that beta blockers can be problematic for folks with mast cell issues and we are pretty sure Em has mast cell issues. But, we are at a place where we are ready to give this a try. He is starting her off on a small dose at bedtime and then, after a few days, if she is still having day time symptoms, she can add a morning, then an afternoon, dose. We will see what happens – we will take it slowly and just keep an eye on everything. If we can actually address the anxiety and poor sleep it would help Em’s quality of life so much.

Dr. Neilson is taking the position that this seems to be a missing treatment for EDSers – he sends them to cardiology and cardiology misses the underlying issue and ends up only partially hitting the target. He specifically asked us to call in in a couple weeks and let him know how it is going – so he can judge whether this is a valuable treatment in general for his patients. He also said he would send a note to the cardiologist and apologize for stepping on his toes but that he feels this is an important treatment that needs exploring. Kind of a ‘easier to ask forgiveness than get permission’ thing.

We talked about her Thyroid – he ordered blood work and we will deal with whatever that shows. I do appreciate that he is taking it seriously.

We talked about PT – he is pleased with the progress Em is making.

AND… we talked about Diamox. He asked (politely) for me to remind him why Em is on Diamox, because we have never talked about it and because he was looking at the big picture medication- wise in terms of adding a beta blocker.

So, I took a deep breath and  filled him in: told him how bad she was with the headaches and neuro symptoms, how she was confined to a darkened bedroom for 8 months, how she was in a wheelchair and non-functional. And we tried Diamox and EVERYTHING got better immediately. I told him I understood that it was controversial but it was the thing that turned her life around – in addition to Zyrtec and Zantac. All he did was shrug and say, if she has pseudotumor cerebri, then she needs the Diamox. And, when I said that I knew Dr. T was against it but I understood why, he just said that one would need to juggle the autonomic dysfunction in relation to the diuretic.

Whew! Did I mention that I really, REALLY like this guy? I think it is safe to say he is willing to at least consider the Driscoll Theory and is open to problem solving by any means necessary (within reason). One of the things I appreciate most is that he is willing to look outside the box for answers – he appears to really be searching actively for solutions to the issues that EDSers face. We see him again in 6 months – I expected it to be pushed back to a year since she is doing well but it is so wonderful having a doctor who we can see regularly to help us address all of the crazy issues we face that I will never complain about being able to see him twice a year!

In part 2, I will talk about the study that is being done through the Connective Tissue Clinic and both of my kids participated in while we were in the office.

Comments on: "Genetics Follow-Up Part 1 (Or, NOT a Dr. Rant)" (2)

  1. Ainsley said:

    Hi Beth,
    Thank you for sharing your family’s story regarding EDS. I have been reading for a while, but feel compelled to comment that I have been seeing Dr. Pocinki for a couple of years and have had my sleep massively improved by taking beta blockers. I have had to increase the dosage a few times and it’s a bit of a test and learn with how much you have to take for it to work well and not make you sleepy, but it’s completely worth it!
    I hope that Em does as well on it!

    • Dr. Pocinki is awesome – you are so lucky to be able to see him! I think he is really close to answers with his observations/theories and it is pretty awesome that Dr. Neilson is paying attention.

      Em just started taking the Propranolol over the weekend and, so far, we aren’t seeing much effect but it is very early days and we are hopeful. Just having Neilson willing to give it a try is a great start!

      Thanks for commenting!

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