"Suffering the Slings and Arrows of Outrageous Fortune"

I haven’t posted in regards to the important neurology appointment we had this month. Em had been referred to a neurologist at OSU at my request, so we could try to get a diagnosis – either of CRPS or small fiber neuropathy or something. Then the labs done during her LP in January showed some concerning markers for MS and sarcadosis and her local neuro wanted her to see someone more knowledgeable than him. Since we already had this appointment set up, it could serve both purposes. Then, the seizure-like episodes started and added an additional layer of wackiness.

So, basically we threw a whole lot of crazy at him. EDS, CCI,  MCAD, POTS, possible CRPS or “something”, evaluate for MS, seizures…  Did I leave anything out? Actually, I did: Post Concussion Syndrome. Sigh.

We have learned the hard way not to put too much hope or weight on any single appointment, but I would be lying if we didn’t at least sort of hope deep down that he would be able to give us a diagnosis and a quick solution on the first visit. When he didn’t, it was a little disappointing and overwhelming.

What he did was listen and order a bunch of testing:

  • He ordered an inpatient stay on the Epilepsy Monitoring Unit to try and figure out what is going on with these episodes. (Side note: after a month and a half of them and a helpful hint from a reader, I think we have a direction to go in. Video EEG monitoring is definitely needed, but will only be a start. More about that soon!) He definitely agreed that we need to rule out all the medical possibilities before jumping to the conclusion they are psychogenic. Don’t have this scheduled yet, but hopefully we can get it done soon, figure out what the heck is going on and stop it.

 

  • He ordered a bunch of labs, including mast cell testing. No one, including the allergists Em has seen has been interested in pushing for an actual diagnosis or any treatment other than Zyrtec and Zantac. It would be nice to have someone actually helping with this.

 

  • He ordered 3 brain MRIs – one with and without contrast, a MRI Angio and MRI Venogram. I am assuming these will help rule in/ out several things, MS for one. He also was not thrilled with the fact that she has been on Diamox for several years with no evidence and is wanting to make sure there is no structural issue causing her high pressure headaches. He did say he wouldn’t mess with her Diamox but he was clearly skeptical. However, he was shocked that cervical fusions are so common for treating neuro symptoms in EDS. We definitely agreed that it was wise to avoid a fusion if possible so that was a start. Perhaps, with time, I can help him understand the rational of the Driscoll Theory and why we absolutely believe Diamox saved Em’s life. There was just too much to cover in this first visit.

 

  • He ordered an nerve conduction study. This is definitely looking at CRPS but her exam also showed some very concerning numbness in her legs. I knew she had numbness but it was far worse than we knew. He pricked her all over with a pin. She mostly could not feel it in large areas on her legs. Like, at all. Her feet and hands are numb but her legs in particular have very little feeling. He seemed concerned. I know I was. So, perhaps we are looking at a neuropathy instead of CRPS? She is having increasing difficulty walking and I have to wonder if this is part of the problem. I don’t know but it is more than a little scary.

 

  • He ordered more autonomic testing – another Tilt Table Test and a sweat test and 24 hour Holter Monitoring. He is concerned that much of her problem is autonomic related and seemed to get caught up in the fact that she hasn’t been diagnosed specifically with POTS by the cardiologist. I am honestly not sure what a name does in this case – the cardiologist is treating her for/ as if she has POTS but has said he didn’t want to label it POTS because it is more complicated. So we have just used the term “Autonomic Dysfunction” this whole time. I am conflicted on this – on one hand, I totally agreed with the Autonomic Dysfunction diagnosis as opposed to POTS. On the other hand, I have felt for a long time that they are not doing much for her at the Syncope Clinic. We go once a year and they say, “Increase your Midodrine; see you next year”. So, maybe this reset is what we need. But… I absolutely dread the idea of another Tilt Table Test for her. He says the one she had several years ago wasn’t good enough, that he needs more information. I am not sure I totally see the point, especially considering she will have to be off ALL her pain meds for 3 days. I can’t even say how awful that will be. We are holding off on scheduling this until we talk to him again. We will need some help, some plan to make this happen – a 2 hour car trip is bad enough on a good day, I cannot even fathom how she would manage that trip without pain meds. If it is not absolutely necessary, I can’t put her through that. Yet, I wonder if maybe, with as dire as the situation is, it is necessary to figure out what is going on.

We liked him well enough, but the whole thing was a little overwhelming – he was very clinical, very data oriented and it was both comforting and annoying. Em was frustrated – exhausted, in more pain than she was in to begin with – because while she couldn’t feel most of the pin pricks, it still caused her pain to spike terribly afterwards – and terrified of having to go off her meds. So, she was not exactly rational about the whole thing, not that I blame her.

I eventually came to the realization that he addressed every single issue we brought up with him. He ignored nothing we said and is looking at everything. He was skeptical about CRPS, because it certainly shouldn’t present quite like she does. So it might be a that she has CRPS but the full body pain might be down to Central Sensitization or neuropathy or something else entirely. He seemed to know a little bit about EDS – certainly he knew the connection between EDS and POTS – so we will have to see what level of knowledge he has as time goes by.

The thing that really got me, was that he wanted to see her back in 4 months. When we actually scheduled that appointment, I realized it will be 2 weeks shy of a year since this all started. A year of this torture and no relief in sight. I know the wheels of medicine turn slowly and that we need time to get all of this testing done before we see him again, but knowing we are at least 4 months from any help was absolutely crushing.

So, we are getting all of this testing scheduled  and completed and just hunkering down and trying to survive.

 

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Comments on: "The Big Appointment" (4)

  1. My heart goes out to you and your family. Our family has been struggling with similar problems for 8 years. Two of my girls have a myriad of issues each, some of them very similar to your Emily’s and it is so heartbreaking to watch. Both girls have appointments pending with Genetics to evaluate for EDS. And various specialists and complementary health practitioner appointments each month.

    My Leah has had 3 weeklong visits with the Inpatient Epilepsy Unit and has never had epileptic activity show up on her EEGs! So aggravating. Her “episodes” (exactly what we call them) are atypical and not what is expected in a seizure so they have repeatedly suggested Psychogenic or Psychosomatic as their true causes. But like your Emily, I recognize Atonic and Partial qualities in her episodes.

    My Bethany has the same shoulder issues after an injury causing a dislocation and rotator cuff tears, it just won’t stay in place any longer. She reacts to most meds she is given. And everytime we figure out one issue, another one pops up. She too had a concussion with symptoms that have persisted far longer than the “normal” Post Concussive time period. She has chronic pain and the headaches, light sensitivity and processing issues are wreaking havoc with her schooling and in all other areas of her life. We have begun to suspect a CSF leak as well and are waiting for her neurologists appointment where we too will be presenting a laundry list of possibilities for them to address.

    Your blog re-inforces for me two very important things
    1) we are not the only family going through these issues – you end up feeling so alone!
    2) the way we are treated is not a direct reflection of us personally, there are plenty of insensitive and uncaring “medical professionals” out there!

    • Good grief – it sounds like our girls could be sisters! I am always both sad and relieved to hear about others who have similar challenges. It does feel a lot like a game of whack-a-mole. There are times I don’t even have time to blog about one problem before the next problem pops up. But I do appreciate knowing there are others walking the same frustrating journey. I am hoping your girls find answers and that we do to. And when we do, we will share in order to help each other!

      Hang in there!

  2. Wow! He sounds like a wonderful doctor! He listened, he made a plan of action, and he’s following you up.

    I know it was probably really overwhelming – it always is when you have so many issues to deal with. But I’m really pleased to see that someone is taking Em’s health issues seriously. That’s a bucket load of testing, and it WILL be unpleasant, especially the TTT. But you really do need a clear picture of what is going on before Em can get effective treatment.

    The doctor’s job is not to make Em happy – his job is to work out what is wrong with her, and how it can be fixed or better managed.

    Your job as her mother is to draw the line if you think something will be too much for her. Be open with him about the difficulties you foresee in travelling without pain meds etc, and ask him what options he can offer (e.g. he might admit her to the hospital a couple of days beforehand, and put her on pain meds she can’t access at home – ones that will be out of her system quickly, and so shouldn’t affect her TTT).

    As for the four months until you see him – it will probably take at least a couple of months to get all that testing done, and for the reports to get back to the doctor (and then he’ll need time to process all the results and formulate a plan). If you find that all the tests are done sooner than the four months, contact his office, and let him know. Update him on how Em is going, and see if you can get an earlier appointment. Make sure you let him know not just how she is going physically, but also mentally/emotionally.

    xx S.

    • I have heard some good things about him, which is why we went to him. It is just very overwhelming. He did take all of our concerns into consideration so I have to appreciate that. Better than what we have been getting!

      I am now thinking it is going to take most of the 4 months to get all the testing done, so getting an earlier appointment may not be in the cards. It was just the date that was so close to the year anniversary that this all started that got me. A year of her life, wasted. I don’t often give into despair but that thought could make me go there. But, we are lucky to have a doctor who is willing to help and I am just going to focus on that!

      We will see him in May for the EMG so I will talk to him then about the TTT and see what we can do to make it feasible for her. The other complication is that we are juggling 2 hospitals – our insurance will want us to do everything possible at home but he is going to want it done at OSU so it is just complicated.

      Anyway, thanks for the thoughts – I appreciate your encouragement!

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