"Suffering the Slings and Arrows of Outrageous Fortune"

Posts tagged ‘Invisible Illness’

EEG Results

Last week, Em finally had her inpatient EEG monitoring. It wasn’t awful but it certainly wasn’t a whole lot of fun. I think I will do a post in the next few days recapping all the gory details of what that stay was like – since I have found that this issue is pretty common among EDSers. Today I will just focus on the results of that stay…

So, the “events” Em has been having are not epilepsy. That is good news, truly,  although in some ways, epilepsy treatment is more straightforward. The bad news is that they diagnosed her with Psychogenic Non-Epileptic Spells. We didn’t exactly love the neurologist and we certainly don’t love that diagnosis. I have been trying to avoid that diagnosis because I know how hard it is going to make Em’s life in the future. My fear is that, going forward, every new symptom will be chalked up to being in her head. EDSers already are viewed as fakers and crazies. We really don’t need this.

I still believe that a very possible cause of these events are complex migraines. That diagnosis fits at least as well as PNES (in my oinion, at least) but this neurologist disregarded it completely, because, well that is what neurologists do. In fact, she flat out said it was impossible because if Em was having migraines, it would have showed up on the EEG. When she said that, my BS meter started beeping like crazy.

Having looked it up after the fact, I was right to be skeptical – migraines are never diagnosed with an EEG and it is by no means certain that one would even show up on the EEG. They disregarded our descriptions of a headache afterwards and the visual symptoms Em experiences during the events. The doctor threw me a bone and promised to include the fact that these events are precipitated by a headache in her report. Which isn’t even true (the events themselves cause the headaches) but she ignored my objections.

So here is what we are left with: Either we accept this diagnosis and risk ignoring a real medical condition or we reject this diagnosis and risk ignoring a real psychological condition.  Both are risky and dangerous. And for sure, accepting the psychological diagnosis means rejecting the possibility that these episodes have any other explanation. We are on shaky ground with this. Remember Justina Pelletier? This diagnosis is under the same Conversion Disorder umbrella that was slapped on Justina when she was medically kidnapped. I would be lying if I said that doesn’t evoke some serious anxiety.

Our plan right now is to pursue both options. We will seek a therapist who might be able to address the emotional issues involved – for sure Em is dealing with more than enough to cause detrimental stress. Whether this will be specifically to address a conversion disorder or simply to help her learn how to cope with the crap hand she has been dealt, remains to be seen.

At the same time, we will pursue a headache specialist who can help us figure out if this is a type of migraine and hopefully provide some treatment.

The neurologist grudgingly acknowledged that we should find someone to treat Em’s headaches so I am going to take her at her word and do what I think is wise. I suspect they saw what they expected to see so I am reluctant to accept their findings without some skepticism.

Bottom line, I have a responsibility to advocate for Em and make sure she is getting the treatment she needs, whatever that may be and in spite of obstacles put in our way.

I will no doubt post more about this diagnosis in the near future and I will post about our general experience of the inpatient stay in case it might help others who are going down the same path. In the meantime, we are just trying to recover from our hospital stay and trying to absorb the results.

 

 

Another Much Needed Win

Every once in a while, amid utter frustration and continual wearing down by the whole medical system, we get a win. Perhaps not a huge victory in the big scheme of things and there are certainly bigger battles looming. There are lots of ups and downs on this journey, even with doctors we like and respect, and that makes for a bumpy ride. But, when we actually have a great experience, especially when we weren’t expecting it, it gives us strength to keep going.

Em’s follow up with the Cardiology Syncope Clinic this past week is a good example of such a time. She has been seen in the Syncope Clinic for 3 years or so. We like the doctor, although for a while now, we have felt a growing  ambivalence about him and her treatment. So often, what we have experienced, even at Cincinnati Children’s is a subtle communication that it is all EDS and there just isn’t much to do outside their carefully constructed box of best practices. When we threw CRPS at the docs down there, everyone we saw just kind of said, “Oh, that is too bad. Not sure what to tell you. Good luck!” So, as much as I like some of the doctors, we don’t always feel  like we are getting anywhere. That is not a big deal when things are going well, but when things are not going well and you need help, it is a very big deal.

We went into this appointment, with rather low expectations and fully expecting it would be like the most recent follow ups: the nurse would ask a bunch of questions, we would see the doc for maybe 10 minutes, he would say increase your meds if you need to and we would be on our way.

Em was exhausted and feeling awful. It is a twoish hour trip and she doesn’t travel well on a good day and getting up early just makes it a not at all good day. She was in a lot of pain and her head was hurting. She had one seizure in the car on the way. She typically has little patience for being asked a ton of pointless questions and being treated like a statistic rather than a living, breathing person who is suffering. (This isn’t necessarily how she IS being treated but definitely how she perceives it.) On Wednesday, she had even less patience than usual and was ready to let somebody have it, even if it was undeserved or unwise.

As the mom, I always feel like I am walking a mine field between Emily, who is rightfully sick and tired of being sick and tired, and doctors who have an awful lot of power over us and who just don’t quite “get it”. I was just thankful they didn’t make her do the questionnaire like in the past: if they had tried, there would have been a visible mushroom cloud over Cincinnati and the news would have reported that the epicenter of the explosion was on the 4th floor of location C at Children’s.

So, the appointment proceeded as usual – the very sweet nurse took all of the info of what had been happening since we had seen them a year ago. There was an awful lot to share so it took awhile. Then we were informed that we would be seeing the Nurse Practitioner, instead of the doctor. We weren’t sure if that would be a good thing or a bad thing because we had never seen her before, so we were both sort of “meh” about it. Honestly, with our recent luck, we had little reason to expect much good.

Martha popped into the room with a smile and introduced herself. She talked about how to tweak Emily’s medicine to make it work a little better. We talked about Em seeing the doctor at OSU in a couple weeks and she put any med changes in our hands in light of seeing him. We could stay the course with Midodrine, increasing it for now. Or we could add something, although she was a little reluctant in light of everything going on and not wanting to muddy the waters for the new doc. And, she said, if we get to him and he wants to add a med but wants them to follow up with it, to just call and it will be no problem. We opted to increase her Midodrine for now but hold off on beta blockers, etc until we talk to him. It was refreshing to be given options and allowed to choose the best course.

She actually gave some practical advice – if support stocking are painful and hard to wear, abdominal binders might be better/ easier and even wearing spanx (bicycle length) can help. Further, she suggested wearing two pairs of leggings (she and I are both of an age that once upon a time called them stretch pants and we both chuckled about that) – that doubling them up may give enough compression that it could help. She was quick to point out this was not supported by any medical data, but that people have found it useful. She and Dr. Grubb’s  NP, Barbara, share ideas so I know she is getting information from a very reliable source. These ideas may or may not help Em, but the point is she was trying to offer practical solutions rooted in the real world, not some medical fantasy land.

Speaking of medical fantasy land, the  current recommendations from Genetics and Cardiology for improving EDS and POTS, is 30 minutes of exercise a day. This exercise should have the heart rate elevated but cannot be done from an upright position. So, something like a rowing machine or recumbent bike. They apparently have had good results and if Em were well enough, we would probably be eager to try this. But, after the CRPS started and she had ear infections and a concussion and lumbar puncture and blood patch  and now seizures, this just is not feasible. Martha recognized that and didn’t even give us the speech. She just suggested Em try to stand for a couple minutes, leaning against the wall and do a few modified squats each day, careful not to dislocate her knees.

When I asked if it would be wise to do some blood work to check Em’s electrolytes in light of her seizures and needing to figure out what is causing them and maybe rule some things out, she said the blood work wouldn’t be very useful to HER but if I wanted it for the OSU doc and for when we see the epileptologists, she would order it. So she went down the list of options and ordered everything that might be helpful. When we were ready to leave, the nurse brought the printed orders to me (we can’t have blood work done there, have to do it at home thanks to insurance) I suddenly recalled that the electronic signature they use isn’t sufficient for our hospital – they always have to call and get a signature faxed and it is generally a pain in the butt. So, I apologetically asked if she could sign it by hand. But, since there were about a billion (give or take) separate orders, the nurse said she would have to sign each one. I hated to bother her with that since she had spent so much time with us already, but the nurse said it wasn’t a problem and Martha signed each order for us.

She was just so kind and supportive – inquiring about Em’s mental health and morale in a way that was genuinely  caring and not clinical or intrusive. Far more than the electronic questionnaire that asks Em to rate how often she has felt depressed via a rubric of Never, Occasionally, Often, or Always.

And, when we were wrapping up the appointment, she wanted to know if there was anything else she could do for us.  I had a request that was a little odd for a cardiology visit and probably would not have asked if we had seen the doc instead of the NP. Em’s ear has been hurting a lot again. We weren’t sure if it is just being aggravated by her jaw or if it was actually infected again. Getting an emergency appointment with the ENT is challenging so if it is not visibly infected, well, maybe we just wait and see.

When I explained all that and asked if she would just peek in that ear and give us some guidance, she had no problem doing so. She looked in both ears, then in that misbehaving right one for a long time. (Which is what every single person who has ever looked at her ears has done, trying to figure out what the heck they are seeing.) Finally, she grabbed a marker and drew a diagram of what she saw on the whiteboard. She saw fluid in that ear, probably not infected yet but definitely fluid, and scar tissue from what looks like a previous perforation. Her suggestion was to give the ENT a call if it keeps hurting or gets worse, which was precisely the advice I needed.

She spent about 45 minutes with us and it has been a long time since we felt so cared for, certainly down at Cincinnati. When she walked out of the room, I looked at Emily and told her we needed to kidnap Martha and keep her with us all the time. Emily, who had been ready to go in to this appointment with guns blazing, agreed completely and was laughing with me about my goofy suggestion. It is truly amazing the impact a single person can have on the people around them and how far a little kindness and support can go towards making someone who is suffering feel better about the world and giving them the strength to carry on.

I wish all appointments could be like that for EVERYONE who is in our shoes, but, since that is wishful thinking, I will just be very thankful for Martha and her kindness at a time when we really needed it.

 

No answers yet…

We still don’t have any answers about the episodes Em has been having and they continue daily. The EEG showed no signs of epileptic activity (although, I have not actually seen the report – only been told what it said – so I am not sure exactly what was found or how it was worded) even though she had an episode during the test.

Initially, I was told because the EEG was normal, they were assuming the episodes are psychological and wanted to refer Em to psychiatry. I threw a bit of a fit and they have referred her instead to the seizure experts at Children’s. These episodes could be psychogenic in origin, but I think it profoundly, appallingly lazy to assume so without first ruling out actual medical causes. And there are plenty of medical causes that need to be looked at. If we find a psychological cause – and chronic pain and the emotional trauma of living with a few rare sucky conditions which are routinely trivialized by doctors who are supposed to help theoretically could be enough to cause it – then we will do whatever needs to be done.

But, I am just not really buying it yet and they will have to go a long way to convince me. And I won’t rest until we have fully examined all the possibilities because I believe it would be far more dangerous to ignore medical issues in favor of a psych label than to put off a psych label while exploring medical explanations. It seems to me that the fact that she had  a concussion, which can cause seizures, should be considered. The fact that she has autonomic dysfunction, should be considered. The fact that cervical instability could be the culprit, should be considered. The fact that she clearly has all kinds of central nervous system inflammation going on, should be considered. The fact that some types of seizures are not easily caught on EEG (in particular, the type I initially suspected she might be having), should be explored. So, hopefully we end up with some really smart, really useful docs who can help us figure this out and don’t rush to a psych diagnosis.

Needless to say, the suggestion that these episodes are psychological has not been a happy one and we are working through that – it felt like a huge slap in the face to Em. Ironically, if we are going on the theory that the emotional trauma inflicted by living with EDS and by being marginalized by doctors are at the root of this, the suggestion that the seizures are psychogenic simply add to the emotional trauma. That irony will likely be lost on the doctors.

I do need to say though, that IF her episodes end up being pyschogenic, they are very real seizures. Real seizures; not faked, not put on, not under her control at all. They would be handled the same way any other seizure is handled, safety being the primary concern. It is the treatment that would be different – instead of seizure meds, it would be a matter of any number of psych based therapies.

We want answers and treatment – whatever those are – but the answers must be genuine and not merely convenient.

So, at the moment, we are waiting to schedule an appointment with docs who hopefully know how to help. Waiting, waiting, waiting…

 

 

 

 

 

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!

 

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

 

Solving the Mystery (or starting to, anyway)

I think the mystery episodes Emily is having are slowly becoming a little more clear, although the “why” is less clear at the moment. Em’s EEG is scheduled for Monday and that should (hopefully, fingers crossed) give us some clarity. In the meantime, we are taking notes, gathering information, getting them on video, and doing our own research. It is very possible that we will know nothing after the EEG and she will need further tests, but, I am hopeful the information we are gathering will be useful for the doctor and get us closer to answers.

She has had more than twenty of these episodes since the 9th of February. Now they have evolved into two distinct types – in one, she goes limp and can’t talk or move for a couple minutes. As soon as she can move, she starts having trouble breathing. Sometimes that is minor, sometimes it is scary and lasts a (relatively) long time. For the most part, she is conscious during these but there are times that she is less “there” and even forgets to breathe. Even though this doesn’t perfectly fit with any specific type of seizure,  I am more and more convinced this is some type of seizure, particularly since she has added myoclonic jerks as part of the episodes. And there have been several times where her head drops or falls to the side, depending on how she is sitting/laying, during the episode.

The new type, which she has started having, seems to clearly fit under the umbrella of simple partial seizures – at least from what I am reading. In the middle of a conversation, she suddenly complains of being exhausted, then her vision changes – she says there is a ball of light between her eyes and the room around her is distorted and rather scary. She says she has a sense of anxiety (maybe more like doom) and paranoia during this.  She has several myoclonic jerks and either her leg, hand, or thumb twitches repeatedly. After a couple minutes (or less) her vision returns to normal and she is exhausted and groggy. Once she lays down for a few minutes, she is totally back to normal and is laughing, talking and generally herself again – anxiety is gone and she carries on. She is totally aware and conscious during these episodes and is able to respond, although she is distressed while they are happening so far. From what I have read, this sounds exactly like a sensory seizure to me, aka focal seizures.

We, of course, are now wondering if this really is all new or if she has been doing some of this all along. If I had to bet money, I would say it is definitely related to the concussion but it is possible that some of this has been around for awhile and it was so subtle that we didn’t see it. I have never actually seen her have an absence (petite mal) seizure but she thinks she might be. And she could be right.

I have learned a whole bunch about seizures in the last few days  – it is all very interesting, although I would really rather not have one more thing to learn about, to be honest. The most interesting thing I learned is that there is a category of autonomic seizures which fall under the umbrella of simple partial seizures. This could explain why her heart rate is bouncing around like crazy during these episodes – it goes from 125 to 85 in the space of a few seconds. (I don’t even know when the last time her HR was that low. It is typically 100 at rest, so 85 seems crazy low for her.) And her oxygen level bounces between 99 and 89 during the go-limp-and-can’t-move-episodes .

In particular, this is interesting in light of one episode (which may be a third distinct type or may just be an anomaly) she had the other night. She overheated (doing absolutely nothing) and felt awful. She had to have an ice pack to cool off (which led to her CRPS pain worsening but whatever) and her right hand was trembling like crazy. Then her thumb twitched for about 30 straight seconds. She had a couple myoclonic jerks then was fine. Back to being normal and said she was hungry. So, is that Dysautonomia or an autonomic seizure? It isn’t anything we have seen before in 5 years of dealing with dysautonomia, that I am sure of. Hopefully we can figure it out soon.

The why is the key here, I think. Is it from the head injury? Is it epilepsy? Is it from CCI? Is it from Dysautonomia? Is it something else entirely? Who knows at this point. But, I am feeling more and more sure that we are dealing with some (probably several) type of seizures and I am hopeful that, once we pin labels down, we can actually treat these.

We are not going to be surprised if she ends up with a big seizure. I hate to even think about that possibility but I am trying to being realistic as I watch the situation evolve and the myoclonic jerks increase. Some of what she is doing can be an aura for a complex seizure so we are just prepared (as prepared as we possibly can be) if it happens and really, really, REALLY hoping it doesn’t. Our goal is to keep her as safe as possible and protect her brain from further injury. She is getting sick and tired of being hovered over but there are some precautions that are just sensible until we get a handle on this. She is very grumpy over the fact that she has to be sleep deprived for her EEG and I am not looking forward to that whole process but we have to find out what is going on so we can get her back on track.

The good news is, her memory has slowly improved and speech therapy is going well. Both therapists she has seen come highly recommended by her dad and she loves them both. And they love her. She is enjoying the therapy and it seems to be helping, even though she is definitely going through some ups and downs that are challenging. It would be nice if her progress could be straight forward, but, that doesn’t seem to be in the cards right now.

With luck, we will know more Monday. Either way, I will post an update when I know more. 🙂

A Letter To Emily’s Mom

This is a piece I wrote last year for the Our Stories of Strength anthology, Living with Ehlers-Danlos Syndrome. I am posting it here as a reminder to myself that we will get through our current struggles and as encouragement for all the moms out there who are facing a diagnosis and are scared to death. We will get through this together and I am thankful for everyone who has walked this journey with us.

 

Dear Emily’s Mom,

Everything is going to be okay. Really, it is.

Yes, I know Emily – your baby girl – has Ehlers-Danlos Syndrome and it seems like the end of the world. I know she is only 11 years old and she is losing everything that matters in her life and your heart is breaking for her and for yourself because your world has been unceremoniously turned upside down. Life as you knew it is a memory and a new life, an uncertain and daunting one, is looming.

Yes, I know she got EDS from her daddy and her brother has it too and you are thinking if only you had known when she was younger, maybe things wouldn’t have to be this bad for her. You are also feeling relief to finally have answers about all the strange symptoms she has had since she was a baby, while simultaneously knowing that relief is a bizarre emotion to be feeling with such a diagnosis.

Yes, I know you are terrified. I know you feel utterly unqualified to deal with this, guilty for not knowing sooner, and heartbroken to see your daughter suffering so. I know you can’t see where this path will lead and I know you hate not being in control.

Five years down the trail from where you sit now, broken and grieving at the beginning of the journey, I can see where you are going and where I have been. Which is why I can say, with certainty,  that everything is going to turn out fine. Truly it is.

Take a moment to breathe and absorb that truth. Everything is going to be okay.

That belief will be sorely tested in the days to come. You are going to have moments where you doubt, where you will not be able to see down the path you are on; moments where it won’t seem possible that the world will ever be right again. But, everything is going to be okay.

I promise.

Of course, “everything is going to be okay” doesn’t mean things will be easy or that events will fall out according to your liking. Spoiler Alert: Events will very rarely, if ever, fall out according to your liking. Honestly, what you think should happen is not always what needs to happen and that will be a hard lesson to learn… One of many hard lessons you will learn, I hate to say.

Somehow, though, even when things don’t go your way, things still turn out okay. When I say “everything will be okay”, what I mean is that, even in the most difficult circumstances, you will be able to honestly say ‘it is well with my soul’. You won’t get there over night, but you will get there.

Faith is at the heart of this journey and it will be your greatest weapon against all of the challenges and uncertainty you face. You will learn that you aren’t in control, no matter how much you want to be, and that you can either be driven crazy by that or simply believe God has more knowledge than you do so you can trust his plans for you. The circumstances you face are going to make you more vulnerable and more adrift than you ever have been and you will survive by leaning heavily on the promise in Romans that tells of how God is working to make all things – even EDS – good. What’s more, you will see that promise come true, time and time again. Soon, you will even come to see the journey as a gift.

Believe it or not, you are being given the amazing opportunity to become more…

More faithful. More patient. More compassionate. More real. More human. You will have the privilege of making friends and meeting people who you otherwise never would have met – a hidden world of people suffering from invisible, chronic illness will be revealed to you and you will be blessed by that revelation and by them.

You will learn the beauty of service: both serving the ones you love and being served by others who care about you. You will gain knowledge and have experiences that will shape you as a human being; a better human being than you were before. You will weep and laugh, pray and think, and learn and grow. It will be painful and profound, but you will find your purpose on this planet and you will grow in love and compassion.  This whole crazy awful business is a precious opportunity to evaluate your priorities, shore up relationships and get rid of all the unnecessary stuff in your life.

No, I know it doesn’t feel like an opportunity right now, it feels more like a punishment. But you aren’t being punished! Rain falls on the righteous and the unrighteous alike. You will witness God working through those bad things and transforming them into something beautiful. And, trust me, the beauty will come. Just watch for it. It will come in big, spectacular ways, in tiny, gentle whispers and though rainbows peeking through the storm clouds. It will come…

Now, I won’t lie…this journey you are on will not be easy. When I talk of the beauty to come, it might be hard to believe when the darkness is pressing in on all sides. Those moments are real and it is okay to despair, to grieve, to doubt – give yourself permission to feel whatever it is that you feel. You don’t have to always see the beauty of the journey – there are parts of it that are just plain hard. When things are rough, just cling to the hope that beauty will be coming during those dark times. That hope will be your anchor.

You are facing the fight of your life – there is no point in sugar coating it. From my vantage point, way down the road from where you are, I can look back and see the steep, rocky trail ahead of you, the pitfalls, the detours, the sleepless nights and the awful times when you are just going to have to sit tight and be patient. However, I can also see the molding of your character and the resilience that comes from the hard work of walking the path you are on; I can see the beauty being wrought from the ashes and the rainbows that have been scattered along the way.

From your vantage point, at the starting line of this marathon, you see only the unknown and it is terrifying. You have every right to be afraid. In fact, fear will be a tool to harness on your journey, but what you need to know is that fear, in the end, is not what will define your journey. Love is.

I know you will struggle to believe this in the beginning, but  the destination is worth the challenges of the journey. The journey will not destroy you. It will make you stronger than you ever thought you could be. You and yours will not only survive this journey – you will thrive.

Here’s another Spoiler Alert: Emily is alright. More than alright, in fact.

She is an amazing young lady. She is not defined nor defeated by her diagnosis. She has faced some pretty tough times and is a fierce fighter – you call her your hero and she has earned that title. And, tough as she is, she still has love and compassion aplenty. She is strong, smart, talented and funny. Your fears that she would not be able to withstand this challenge are completely unfounded. Just as your character is being shaped by this journey, so, too, is hers and, while you wish she could be trouble free, you know that is just the wishful thinking of a parent.  EDS is simply part of her life and she is learning to rise admirably to the challenges that she will face for the rest of her life.

Sure, there is the day-to-day EDS stuff to deal with – the dislocations, injuries, the pain, the headaches, the autonomic stuff. Unfortunately, those never go away. But, somehow, you both will adapt to all of that and learn to roll with it. Like I said, EDS does not define nor defeat her or you, for that matter.

You will find some good medical care along the way and you will find that willingness to think outside the box will serve you well. Family, friends, and faith will keep you strong. You will make mistakes but when you do you will learn from them and you will hone your knowledge to become a formidable advocate. And your daughter will learn how to advocate for herself from your example.

Long story short: you can do this.

I am still looking towards an unknown future so I can’t tell you how the journey ends. We have a long way to go and I have no crystal ball from here on out. What I can tell you, with confidence, is that, while I fully expect troubles because troubles are part of life,  I also have confidence that there will be rainbows that accompany the storms, weeping will turn to joy, God’s  mercies are new each morning and beauty will come from the ashes of the most difficult situation. So, whatever troubles are lurking around the next bend in the road, I know we will be alright.

And so will you.

Hang in there,

Beth (Emily’s Mom)

 

 

 

 

Everything else that we are dealing with…

So much has happened in such a short time, I can hardly remember what I have posted about and what I put off for later. In addition to the lumbar puncture, the blood patch, the ongoing high pressure issues and the likely CSF leaks, Em has been dealing with a concussion and that injured rotator cuff and, of course, what we presume to be CRPS.

Shoulder Injury

PT dismissed her because she was struggling intensely with the most basic exercises she was given. At the time, we were suspecting that her neck had become unstable and that was a big concern – for some reason people get a little jumpy when you mention her neck is unstable! Fortunately, a lot of the issues that we assumed were down to instability eased up when they did the lumbar puncture, easing the high pressure.

So, the plan was, talk to the specialists at Cinci and wait and see. In the meantime, her neck is better and  she has been able to gain a lot more use of her shoulder and is out of the sling. At this point, we will just carry on and hope the shoulder doesn’t get reinjured. In a perfect world, we would be able to focus our energy on her shoulder but, as we are far from a perfect world, there are too many other things to worry about. Sadly, since it seems to be improving, her shoulder is low on the list of priorities at the moment. I am just glad she has use and motion back and has less pain.

Concussion

She is doing better, but still not well. I think I mentioned that she fell and hit her head (again) on the 9th, which worsened the memory loss and balance problems. That was a little scary, to be honest but the doctor felt like the second injury should not have been enough to cause any damage and waiting it out was the thing to do. We have just made it a priority to protect her head as much as possible and keep her safe until she is steady again. Some of our precautions she doesn’t particularly appreciate, but protecting her brain is non-negotiable.

Her balance has improved from what it was after bumping her head that second time, but it is still not great. She is using her wheelchair when we are out in public. That is frustrating for her, but, I can tell you that I am so grateful we have that wheelchair in times like this.

She has started speech therapy to help rehab her brain. She had her second visit yesterday and will go again tomorrow. Her memory loss is better – she is able to recall details much better than before – but she is still incredibly frustrated when she is searching for a word and just can’t pull it up. And she is bemused at what her brain does recall and at how odd it feels to not know she knows something until she suddenly remembers.

Right now, we are still being guided by her symptoms – she can do the speech exercises in varying chunks of time before she starts hurting. Sometimes she can go straight through for a considerable length of time before her head starts hurting and other times she hits the wall sooner. This week she is going to write answers on a worksheet with various questions and we will see how that goes. She had a disconcerting time a couple days after the second bump when she realized that her brain was sort of disconnected to the actual process of writing. She said it felt like a reflex but that her brain wasn’t really doing it.

We go back to the concussion doctor on the 5th and she will have neuropsych testing done. I think she is definitely better  and continuing to improve: we are all happy with the progress she is making, but this is all new ground for us and it will be good to have knowledgeable eyes on her.

She did sit in her room and play her guitar a couple days ago and that was a wonderful sound. It has been a while and she is just now getting to the point of being able to remember the cords and lyrics that once came so easily to her. Music is such a part of her life – being able to play again is a huge morale boost.

CRPS

Way back at the beginning of December, we saw the pain doctor and emphatically expressed our need for help. (Sort of a comin’ to Jesus type event.) Bless him, he spent an hour with us on a day we weren’t even scheduled to see him and his waiting room was packed.

Anyway, I had taken in a referral form for a doctor I wanted him to send us to – a neurologist specializing in neuromuscular diseases at OSU medical center. I had filled the form out as fully as I could (and told them what to put in the lines they needed to fill out) in the hopes that there would be no excuse to not promptly refer us. It did take a polite reminder but they did eventually get us referred. Honestly, I wasn’t even sure if this doctor would see Em since she is 17 so it was a shot in the dark. His office called to ask some questions and clarify the situation and to inform us that he normally wouldn’t see anyone under 18 but that he would consider it.

Thankfully, he is willing to see her and we see him on the 15th of March. I am cautiously optimistic that he will be helpful in giving her a diagnosis and figuring all of this out. Recently, her lab results got a little more complicated and it is doubly good that we are going to him – I will get to that issue in a just a minute. I hear he is very smart and very kind so I believe we are on the right track and I am beyond grateful he is willing to see her.

New Diagnoses

Em has had a ton of labs done – between the CSF testing from the lumbar puncture and the blood work that has been done – we have at least been able to look at a lot of things that can be ruled out or addressed. We saw the neurologist last week and I was not surprised to hear him say Em is beyond him and needs someone with more knowledge than he has. He has absolutely done right by her for 4 years, so that was a little emotional. He will be available if we need him, but we need to get somewhere with more knowledge.

He was concerned – not overly but said it needs to be looked at – with one of her labs. The one test shows some markers for MS. She has three bands and four indicate MS. Now, he doesn’t think she has MS and I don’t think she has MS. I just think her entire nervous system is on fire and there is nothing at all conclusive about that test in regards to an MS diagnosis. However, she needs to be evaluated by someone who can handle all of her complexities. Fortunately, we already have an appointment with a doctor specializing in neuromuscular disease. That is exactly where we need to be and I doubt we would be able to get a sooner appointment anywhere. So, it all seems a bit Providential when I look at it.

Also, the doctor ordered an additional blood test which has come back elevated, indicating Sarcadosis. Am I surprised that at this point she is showing signs of an autoimmune issue? Not at all. Truly, I am just surprised she hasn’t shown any autoimmune signs previously. Again, and almost as always, she has enough symptoms that sort of tick the boxes for one thing but that also overlap with about a dozen other things. So, who knows. She also had a lung x-ray and we are being referred to a pulmonologist. Again,  I am not getting too worked up about this – if it is sarcadosis, it is treatable. If it isn’t, the symptoms (which, if they exist, are being masked by everything else that is going on) are certainly explained by everything else she is dealing with.

ER Complaints

We have taken our complaints about the whole lumbar puncture/ blood patch/ ER/ latex exposure debacle to administration and we are, fortunately, being taken seriously. So far, profuse apologies and some ideas on how to make sure this never happens again – not to us or anyone else – have been offered. I am not going into details right now, because this is, after all, my husband’s employer, and I want to tread lightly but suffice it to say they are doing right by us and I think we will be satisfied by the time it is all done. I am very hopeful that this will be an opportunity to share awareness about Emily’s rare conditions and help foster an atmosphere that better understands how to treat complex, chronic illness. Which, in the end, is what matters to us.

One Last Thing

Finally, I would like to ask for your prayers for my mom. She has been diagnosed with breast cancer and will be having a mastectomy in the near future. But, she has great doctors and her prognosis is good, so, even though this is a blow, we have faith that this is all going to be ok.

 

So those are the highlights from our crazy life right now. If it all sounds exhausting, it is! But, we are hanging in there and trying to keeping our sanity intact.

 

To the Nurse Practitioner who saw my daughter in the ER Thanksgiving Eve:

To the Nurse Practitioner who saw my daughter in the ER Thanksgiving Eve:

It was the day before Thanksgiving. You probably didn’t want to be there any more than we did. But, I am willing to bet that the time we spent in the ER  left more of an impression on us than it did you. And, I have a few things to say to you.

My daughter – my beautiful, smart, precious daughter who has lived for the last 6 years in such chronic pain that would put you and most other “normals” on the floor, who has had her childhood ripped away by a genetic condition, who has experienced loss and suffering and affliction, the likes of which you can probably only imagine, yet does not view herself as a victim and refuses to be defined by her medical condition – came to you for help. For the first time in 6 years, she asked to go to the ER because she was in such pain.

It was complicated – with her it always is. She is medically complex. A bemusing mash up of chronic and acute issues is what we threw at you that day. That is not what you normally see and it was not clear cut. I get it. I even sympathize, a little. But, this is our daily reality and frankly, I don’t think it is too much to ask for you to do right by a kid who is desperate for help.

I tried to peel back the layers for you – she has Ehlers Danlos Syndrome, she has autonomic dysfunction, and she has something else – probably Complex Regional Pain Syndrome, the most painful condition know to medicine.

It was her shoulder that brought us in to the ER that day. It had dislocated August 1st. That injury started the CRPS, which quickly spread to her whole body and the shoulder has been a worsening problem ever since. We had seen the Rheumatologist a week earlier and he was very concerned about that shoulder, because she couldn’t move it after it simply gave out a couple days earlier. The earliest an MRI could be scheduled was December 2nd. She reinjured it in her sleep and the pain was just too much.

And she asked to go to the ER. Because she needed help. We thought the least you could do was go ahead with an MRI, so we could figure out the source of the pain or if there was any damage. And, I was hoping for something to help get her pain under control so she could participate in our family Thanksgiving.

We weren’t drug seeking. I flat out told you we didn’t want another prescription. She already has pain meds that aren’t working. I don’t want to throw narcotics at her. But, when your child is shaking and pale and nauseous because of her pain and has been for days, and when she has had a bad reaction to the pain medication the Rheumatologist prescribed and for the first time you hear her say ‘death would be easier” and you honestly don’t know if it is the side effects or the pain, you ask for help.

What we got instead was attitude. You were dismissive from the moment you walked into the room. We were probably defensive – living with a rare chronic illness that is poorly understood by the medical community will do that to you. This may come as a surprise to you, but the ER is the last place we wanted to be on Thanksgiving Eve.

You asked, rather snidely, what we expected you to do.  Let me tell you now: I expected you to listen. To show some compassion. To offer ideas. To order an MRI. To show some humanity.

Did my daughter communicate effectively? No, she didn’t. Because she was in profound pain. Agony. She is trying her very best to manage a handful of medical challenges that make adults weep. Of course she didn’t communicate well.

She is still learning to advocate for herself appropriately and effectively. All of the past negative experiences with doctors have built a wall that has to be dismantled if you want to really reach her. Furthermore, her medical conditions cause brain fog and anxiety: she has trouble finding the right word, particularly when stressed and in pain. Complicating all of this is that the new med that was supposed to help, instead turned her brain to an angry mush of aggression and depression and she was not in a good place.

And she is a child,  a scared little girl, a prisoner of her own body,  tortured by her own central nervous system and her genes, who decided to take a risk and ask for help.

You, on the other hand, are the adult. And the professional. The onus of communication is on you. You could have shown some sympathy. You could have listened to her. You could have walked in the room not assuming we were drug seeking. You could have acknowledged her case was complex and confusing and made an effort to understand the challenges that we live with on a daily basis. Instead, you copped an attitude and acted surprised when things went downhill.

You begrudgingly offered an X-ray instead of the MRI that we all knew was necessary. Perhaps if you had been a little more compassionate and actually allowed her to express herself, if you had asked questions and cared about the answers, you would have been included in the conversation that followed. Instead, my daughter, and you would have understood why if you had listened to her, acted like the frightened and angry child she was and refused your x-ray. She may only be 16 but she knows perfectly well that not one of the multitude of x-rays she has had has EVER shown any conclusive results. She knows how much it hurts to have X-rays when you are in pain. She also knew you thought she was drug seeking. And she wanted to leave and never lay eyes on you again. She has zero tolerance for crap on a good day and this was so not a good day.

In the meantime, I was desperately texting an SOS to my husband who was finishing up his work day, three floors up in the hospital. When you walked back in the room, prepared to lay into my child for refusing the x-ray, you were obviously taken aback by a hospital employee that you know, standing in the room and standing up for his daughter. I can only imagine how things would have gone if he hadn’t shown up. I am pretty sure it would have involved my daughter telling you what you could do with both your condescension and your x-ray as she stormed out, with me juggling purse and coats and trying to salvage the situation.

Instead, you perhaps understood for the first time, that we weren’t random people who were crazy and stupid, and you changed your tune a bit. I cannot tell you how sad I am for your other patients who are also not random, crazy, stupid people but don’t know someone who works at the hospital and cannot salvage their visit at all. I mean, you were still pretty snide, but you finally offered a shot of morphine or a pain patch. Emily chose the pain patch just so she could go home and get away from you, vowing to never return, no matter how dire the situation. (That should scare you as much as it scares me.)

Forgive me if I am not overly grateful for the bone you threw us: if you had actually known about EDS like you pretended to, you would have been aware that she has fragile skin and the adhesive on the pain patch could be a serious issue, which it  has. And, I’d probably be more grateful if they had helped, which they haven’t.

This particular day was just another stop on a very long and winding road. We have had some really, really good doctors over the past 6 years. We have had some really bad doctors throughout this journey. The bad ones leave such deep scars that the good ones can barely get near us for our reflexive flinching at a white coat, like a battered and abused child who never knows if the outstretched hand will be gentle or inflict pain.

Unfortunately, you inflicted a wound that will leave a scar. One that will make it harder for her to ever ask for help again. The next time she needs help, she will be more likely to just give up and suffer. And that is potentially deadly. That scar makes my already difficult job parenting a medically complex child that much more difficult. I am angry. I am frustrated. Mostly, I am sad and tired from fighting this fight alone. But, I have sworn a solemn oath to this child that I will never stop fighting for her. I cannot and will not give up.

At the end of the day, we have only our own reaction to this experience – it is the only thing we can control. So, we have decided to turn this into a positive: We will use this experience to empower Emily by helping her learn to communicate better in the future.   And, instead of feeling victimized by this experience, we will have a discussion with the head of the ER. Not to get you in trouble or exact a pound of flesh, but to wrangle some good from a bad situation by educating. We have a unique opportunity to educate and advocate for awareness of EDS and CRPS – if we step outside of our comfort zone and reach out to the ER staff in good faith, it will benefit Emily and possibly countless other chronic illness patients.

We are determined to learn and grow and find some measure of good in this bleak situation and I can only hope you might be willing to do the same. Please, next time you encounter someone like my daughter – hurting, scared, scarred and a little angry – do better. Your actions matter and my daughter, and all of the other chronically ill patients who pass through your hands, deserve better.

 

 

 

 

Update on CRPS, Shoulder Injury and Ear Infections

A lot has been going on, so I will will try to catch everyone up…

On November 19th, we saw the Rheumatologist (Dr. Henrickson) at Cincinnati Children’s. On the upside, we liked him. We liked the Rheumatology Fellow who talked to Em and took her history. Dr. H said we were educated on Em’s issues and thus in a good position to beat this. When I mentioned being in an CRPS group on facebook, he didn’t chide – he just said our knowledge was useful. That earned him points, let me tell you!

We felt that they took her pain seriously and listened to what she had to say. He added a med to try and help with her pain, Trileptal. She has to titrate up to a full dose over the next week or so, but she thinks the tiny dose she is currently on is helping. That gives us hope that the full dose will help. Which is good because she is in incredible amounts of pain every moment of every day. I have never seen her in pain like this, not even back in the days before she had any pain management. The situation is getting dire and there are no easy answers. I doubt they have a clue how much pain she is in, because she has gotten very good at putting up a front to hide her real desperation. But, they took her as seriously as they could and I appreciate that.

As far as an actual diagnosis, we still don’t have one. He essentially (my best interpretation of what he said) believes that once Complex Regional Pain Syndrome spreads from one region to the whole body, that it is no longer CRPS, that it becomes “something” else. He suggested that, depending on what some of the testing we are doing, the more likely diagnosis is Small Fiber Sensory Neuropathy. The problem is, Cincinnati Children’s can’t do the testing for that. Only a few hospitals in the country can, so this is another rare diagnosis that would be challenging to pursue.

My problem is, as far as I can see, Small Fiber Neuropathy really doesn’t fit her symptoms, not as a whole, anyway. She would be a very atypical case if that is what we are looking at. Emily said that she feels like for the first time a doctor has ignored the more likely explanation and opted for the LESS likely, MORE rare explanation. And, when it comes to treatment for SFN, it seems that it is a matter of addressing the underlying cause (diabetes, for example) and controlling it with pain meds. If, what she has is actually CRPS instead, treatment for SNF would mean the CRPS would go untreated and that would be a very bad thing. So, I am just not buying this idea of SNF – in my heart, I believe she has CRPS, which has rapidly gone full body, and needs aggressive treatment to break the pain cycle that her central nervous system has developed.

Complicating our visit and his understanding of her pain, was a new shoulder injury. The left shoulder, the original dislocation that started the CRPS spread in the first place, has been a problem off and on since. A couple days before our appointment, her shoulder just sort of gave out. Went numb and floppy. She put it in a sling because that has helped in the past but instead of getting better, it got worse over the next couple days. Usually, this type of injury gets better after a few days. Not this time. By the time we saw the Rheumatologist three days after the injury, she couldn’t move it and it was causing her severe pain.

So, he wants her to have an MRI. We have one scheduled for the 2nd. In the meantime, she is profoundly miserable and I think she may have really messed her shoulder up this time.. The pain, a combination of CRPS pain and a damaged shoulder that hurts with every slight movement, is so severe that she shakes and gets nauseated from it. She doesn’t want to, but we may end up at the ER to try to get her pain under control. With luck, they could do an MRI right there so we don’t have to wait until Dec. 2nd. The situation is getting desperate, to be honest. She should not have to be in this amount of pain.

The MRI will help us know what is going on with the shoulder, and he ordered some bloodwork to check on vitamin deficiencies that could cause neuropathic pain. Baring no useful results there, he wants her to do PT and desensitization. If that doesn’t help, pursue SNF testing.

As much as we liked this doctor, I am not loving his plan. I think she needs to be seen by someone – a neurologist who knows both CRPS and SNF. If this is CRPS it is crucial we start treating it – the longer it takes, the worse her prognosis. I am weighing our options and figuring out a path that will take us where we need to go. The treatments for CRPS will not hamper treatment for SNF if it turns out to be the true diagnosis, but, from what I can see, treatment for SNF would not adequately treat CRPS if that is what she has. It seems prudent to pursue the diagnosis/treatment we can now and wait to investigate SNF down the road.

Basically, everything is still up in the air and we have no more answers than we had to begin with. Except the exam at that appointment revealed that she has a perforated ear drum. They either missed it at Urgent Care or it happened since she was last there. We have an ENT appointment set up for the 15th, but her ears are so painful and she has developed vertigo, so we may end up back at Urgent Care in the meantime.

We are tired. And stretched thin.  And scared. And frustrated that we are not being offered any real help in what we know to be a desperate fight for her future.

But, we are hanging in there and at least have an idea of where we need to go. For now, we are just taking this journey one step at a time.

 

 

One more thing…

Thursday morning, Em  told me her ear was feeling funny when she woke. She had tried to gently clean it out, she used a Q-tip (just the tip, didn’t even insert the cushioned part all the way) but heard a big pop and it hurt a lot. She couldn’t hear out of that ear, so, although it seemed unlikely, I was concerned that she somehow managed to perforate her ear drum or that it was infected.

So, we talked about it and waited a little while to see if it got better and discussed it some more. And, decided to head to Urgent Care. Her ears were filled with wax so they had to clean them out.

(We had an entertaining moment when the nurse casually mentioned she was going to “shoot” water into Em’s ears, while holding, what looked to Em, to be a gigantic hypodermic needle. It, of course, was not a needle, but Em thought it was. I don’t know which she was more concerned about – getting “shot” in the ear with water or getting “a shot” in her ears. The nurse hastened to assure her there was no shot of any kind forthcoming – it was not a needle but soft plastic and the water would be gently squirted into her ears. We all got a good laugh out of that little misunderstanding. It is possible that I thought it was funnier than Em did but she did laugh.)

At that point, I was hopeful that her ear drum was fine, there was no infection and just cleaning out the wax was going to be the answer.

But, once the doc was able to look in her ears, the painful right one was infected. At 16 years old, she can now say she has had an ear infection. For all of her issues over the years, one thing that was never an issue was ear infections –  I am pretty sure this is her first. And my son only had one – when I was in the hospital recovering from my hysterectomy, my husband brought him to visit and he confided that his ears hurt. They trooped down stairs to Urgent Care and, sure enough, he had a double ear infection at the most inconvenient possible time. So, this ear infection thing is a little foreign to me – I didn’t even deal with Luke’s because I was in the hospital.

Seems odd, having an ear infection out of the blue like this, at her age. Is it just a one off , a fluke accompanying some virus? Is it an indication that her immune system is down? Is it a sign of problems to come? Who knows.

All I know is that she feels awful. Her ear hurts. Her head hurts and noise is painful. She isn’t sleeping well. She can’t eat. The antibiotics are making her more nauseated that usual. It has been 4 days and she still feels absolutely terrible. She is being referred to an ENT and I think that is probably a good idea. She is just so complicated and this is just one more thing to deal with on top of everything else.

 

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