"Suffering the Slings and Arrows of Outrageous Fortune"

Posts tagged ‘Mast Cell Disease’

The Big Appointment

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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Rare Disease Day 2016

 

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Today is Rare Disease Day, with a focus on Making the Voice of Rare Diseases Heard.

Usually, I write a post on the theme because I feel strongly about this. Ironically, I am feeling overwhelmed by actually living with our allotment of rare diseases and just don’t have the brain power to write something brilliant.

I can share some links that will help you share some awareness on social media. Use your platform to share information because giving a voice to this cause is important. Make your voice heard and support the Rare Disease Community!

 

Rare Disease Day

 

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What are you doing to promote awareness today? Leave a comment and share!

 

The Newly Revised Driscoll Theory

This post is long overdue (and I apologize for that!) but I said I would post when the updated version of the Driscoll Theory was available so, here goes! (Better late than never!)

You can go to Dr. Diana’s website and purchase the ebook. The $19.99 cost will help fund continuing research (and there is more on the horizon, trust me!)

FINAL_DrDiana_new

 

From Dr. D:
This book is written by doctors and patients who live with EDS/POTS every day.
Revealing the cause of “EDS/POTS” results in a new treatment paradigm.
All proceeds from this book will be used to fund further research.
Gentle hugs to you all…

 

I was privileged to help out a bit as Diana was working on this revision, as well as to contribute a piece about our experiences with the Driscoll Theory. Our story (Emily’s Story) is in the book (in Chapter 10), as are touching stories from other patients who have been helped by Dr. Diana’s work. In addition, there are chapters from physicians who have both personal and professional knowledge to share. Of course, POTS, intracranial pressure, mast cells, vascular abnormalities and more are explained and discussed.

Pop over to prettyill.com and grab your copy of the new Driscoll Theory. (I have it on my Kindle, for late night references and doctor visits, as well as my computer, so it is always available!)

Feel free to come back here and comment, once you have read it! If you have questions, either comment here or go to the Ask a Question page and comment there. If I can answer your question, I will. If I can’t, I will pass it along to Dr. D and have her answer you.

Having the Driscoll Theory in print once again is the next step to ensuring the paradigm shift that started more than 3 years ago becomes a standard of care for EDSers. So, it is important that we share this with everyone who could benefit!

Finally, I would like to thank Dr. Diana for her work in making her theory available for all of those who desperately need a bit of hope. I think we all sometimes forget that Diana is just like all the other EDSers out there – she has her own medical challenges to face and she has a family to care for – so that makes this project, that she worked so hard on, even more special. Thank You Dr. D!

 

Now, go get your copy and enjoy it! 🙂

Need your help again…

You may remember me talking about a project Emily and I are working on – we are writing a book and hoping to get it published. I had sort of intended to have it ready and submitted a year ago but, well, that didn’t quite happen. It has been mostly written for almost a year, but I got sidetracked: the story of my life.

Anyway, we are back to seriously working on finishing… Emily is writing her portion (which may have been a large part of the delay) as I continue to remind her that this is formal writing which needs to be a notch (or two or ten) higher than her blog or other conversations. She is doing a good job, although I am slightly regretting telling her that I expected ‘real’ and ‘honest’ and not the sanitized version from her. I am thinking I should have requested sanitized and worked backwards…

On a serious note, this is a big deal and a fairly emotional undertaking for her so I am pleased that she is giving it a serious go. While she works on her part (basically, a short essay to accompany each chapter) I am working on our book proposal which will be submitted to agents in due time. The book proposal is nearly as complicated as writing the book itself, so it is no small task. I know we are not unique among authors who are convinced their book should be published, but, you and I both know that the EDS/ chronic illness community can always use another book that offers encouragement and hope. So, I am going to naively carry on believing that we will be published and hopefully my positivity will pay off. 🙂

I asked for help from my readers when I first got started writing and I am going to ask again:

rainbow scroll 2First, I would love it if you would comment with the title of any books on the topic of living with chronic illness or suffering or any topic that would be helpful to living  well with chronic illness that have helped you and you can personally recommend. This can be as a parent who has an ill child, a teenager who is ill, or an adult who is ill. I have a pretty substantial list of books, either that I have read or that have been recommended to me but I don’t want to miss any! So, tell me: What books are your go-to selections for encouragement, help, guidance in your life with chronic illness? What book would you give to a friend who was starting a journey with chronic illness?

rainbow scroll 2Second, I am including thoughts, comments, experiences of other teenagers who live with chronic illness. I have several people who have already contributed but have room for a few more. So, if you are, say, are a teenager up to mid-twenties and are interested in answering a few questions so I can include some of your thoughts into my book, let me know. Since the book is applicable for any chronic illness and not just EDS, I especially would like thoughts from other conditions: asthma, depression, anxiety, diabetes, Chiari – any chronic illness, really. I especially need the perspective of young men, as their experience may be a little different than girls. Comment below or contact me via the link in the sidebar.

rainbow scroll 2Third, please take a moment to hop over to this post and answer a couple questions in the poll. Part of the book proposal is research on why my book will sell. So, share your thoughts via the poll so I can have a few statistics on why this book is needed and a head start on future projects. If you have a comment to share about why a book such as this would be helpful, feel free to share it below.

I appreciate your help and am looking forward to hearing from you!

 

Please Take This Poll

As I mentioned in my previous post, my daughter and I are writing a faith based book that we are hoping to have published. This book focuses on mostly the emotional aspects of living with chronic illness, although some practical advise is shared. It is aimed at chronic illness in general and not only EDS.

We are in the final stages of getting the book ready to submit and I am doing a bit of research that you can help me with. (I have a few future projects in mind as well, including a companion journal that could accompany our current project. This journal would include recommended reading (by me), inspiring/encouraging songs (recommended by Em), and activities/exercises that expand on the topics covered in the book.)

All you need to do is take a moment and answer the questions in this poll if you are affected by chronic illness. The more responses I get, the better!

Thanks in advance!

Check all that apply:

 

The Driscoll Theory Updated

Alrighty, folks…Here is a post I have been needing to get up and one that was certainly not put off for lack of interest. Suffice it to say, I am intensely interested in this development and I am sure many of you are as well.

Dr. Diana Driscoll, EDS patient, researcher, (and a very patient researcher, ha ha 🙂 ), and amazing author of the Driscoll Theory, which has been an incredible blessing for so many EDSers, will be releasing an updated and revised version of her theory soon. As usual, she is dealing with her own serious EDS health issues as she moves forward with her much needed research and her hopes to have this big project completed already were derailed by a hospital stay. But, in the midst of her recovery, she is hard at work getting the newest version of the Driscoll Theory ready for publication. The lady never stops!

Going off task for just a moment, I would like to ask for your prayers for Diana – for her health, for her family and for this much needed update of information that will make such an incredible difference for so many people. She doesn’t often say so, but the path she finds herself on is not an easy one: the path less traveled (especially in the medical world) is hard and lonely and draining, in every sense of the word – physically, emotionally, and financially. And that is on top of her own life as wife and mother and daughter and friend and seriously affected patient. Keep her in your prayers, if that is your way, and at least wish her the best, if it is not. 🙂

I know many of you share my deep gratitude for the work Dr. D is doing on behalf of the EDS community – my daughter has a real chance at life because of the Driscoll Theory and she is not the only one by far! Bless Dr. Diana and her amazing work on behalf of EDSers around the world.

Ok, back on task with a message straight from Diana herself:

 

Updated Driscoll Theory

By popular request, The Driscoll Theory (updated, with numerous experts)
coming soon! We’ll cover information about intracranial pressure, why we
need to move past mast cell activation, what’s up with our vascular
abnormalities, “Diamox Pearls”, inspiring patient stories and more.

Many of us are working hard to get this to you so we can answer
many questions at once. We’ll keep you posted! 😉

 

As you may know, initially, Dr. D generously shared her theory online, but eventually had to remove it thanks to some unsavory people misusing it for their own benefit and placing EDSers at risk. It was a sad situation that made it more difficult for affected EDSers to get their doctors to consider the theory. So, the updated version will be a welcome development!

It will be an enormous help to have additional information published about the life-altering treatments proposed in the initial version of the theory. It is incredibly frustrating to have these treatments, which could help so many, viewed with derision by the ignorant medical establishment and thus just out of reach for too many EDSers who desperately need them. The upcoming update will move the conversation along and hopefully give the naysayers something to think about.

So, hang in there until Dr. D is ready to run with this – it won’t be long. I can’t predict the timeline with much accuracy, but I think the goal is to have this ready in the next couple months. If you can, share this information so we get the word out. If you are on Facebook, here is a post from Dr. D that you can share:

Productively Unproductive

We drove through some very nasty weather to Em’s allergy appointment on Friday – we were crawling along at 10 mph on the interstate much of the time and there were cars spinning out around us, but we made it just on time.

It was an important visit – following up after the endoscopy and figuring out where we need to go from here, so I really didn’t want to have to reschedule and wait a few more weeks to discuss the endoscopy.

Unfortunately, Dr. A did not have the endoscopy report to be able to look at. So, we were sort of left in limbo. However, the fact that I reported that Dr. Croffie found nothing, other than the low lactase level, was taken on board. For now, until he gets the reports from Croffie’s office, he is assuming there is no eosinophilic esophagitis. He wants to see both the written report and the pathology report – if he is in doubt, he will get the slides read at Cincinnati. But, until something changes, he is assuming it is not EoE.

Which leads us to the ‘fortunately’ part… If it is not EoE, what is it? I did not want to pipe up and just shout out my lowly little opinion but I was determined to somehow get mast cell on the table. So, we just tried to answer his questions honestly and as thoroughly as possible.

When he focused on the flushing, Em pointed out that the flushing itself is not bothersome, it is the tachycardia, syncope, and nausea that goes along whenever she flushes. That got a moment of thoughtful silence.

When I mentioned that the lactose intolerance was the least of her problems, he asked what her biggest problem is… I said, probably the reactions to food that she has, oh and sometimes it isn’t just food, it is weird reactions to environmental triggers too. Another moment of thoughtfulness. He finally asked which foods are problems. We gave him the list of foods that are problematic, most of which happen to be high histamine foods. He actually said the ‘h’ word when we talked about canned tuna being a problem.

Right about then, I knew he was following our trail of crumbs and we were finally heading the same place. When he talked about tryptase levels and that doing the tests over would probably still end up with a negative result, I knew he was thinking mast cell. He never actually said mast cell, but clearly is thinking along those lines.  We all agreed to discontinue the Singulair, since it isn’t helping in any noticable way.

Basically, he left it that he was going to have to take some time to think about which direction he wants to go, to decide what meds he can try that might help. So, I am to call Dr. Croffie about the reports and then later this week give Abonia a call to find out what he has decided.

So, we actually accomplished little and yet, I feel like we got more done than ever before. And I feel like we may be getting somewhere. Finally.

 

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