"Suffering the Slings and Arrows of Outrageous Fortune"

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.

 

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…

 

 

 

 

 

 

rdd-logo

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

 

Cover Photo and profile picture

 

A Temporary Filter for your FB Profile Pic

 

Rare Disease Day Logos

 

Email Signature

 

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

 

EEG

Emily had her EEG on Monday afternoon. Amazingly, she had two episodes – perfectly representative of what she normally does – during the test. We could not have planned or timed it better!

She started having a few sporadic twitches as she was being prepped and I knew we were on borrowed time. I got to stay with her; I had been worried about it and was grateful that I didn’t have to leave. The tech started the test and had her essentially hyperventilate for 3 minutes. After about a minute of that, I could see that she was starting to fade, but she completed the 3 minutes then said she felt like she was going to have one. A few seconds later, she went limp and stopped responding. She twitched and jerked every 10 seconds or so and the tech recorded those in her notes. She started having labored breathing and gasping for air like she usually does. At about the 5 minute point, her eyes opened and she was able to respond a little, although she was still dazed.

Then she went straight into the second episode. This one was longer – about 10 minutes and the twitching and jerking was stronger and more frequent. The tech finally gave up recording each jerk because she couldn’t type fast enough. Again, she had labored jerky breathing and I had to remind her to breathe a few times. She finally opened her eyes and could respond. Once she recovered a little the tech was able to complete the EEG and we  were done in less than an hour. She twitched and jerked during the strobe test, but didn’t go into an episode.

So, I feel like they should have gotten pretty good information from the EEG. It very well may not show anything, depending on what is causing the episodes (I really want to just call them seizures and be done with it but I won’t yet). But, she had two episodes and that is all we can ask for – they were witnessed and documented so we have some validation. I do wish they could have caught the second, more visual/ sensory type during the test as well but those happen much later in the day so it never likely that she would have that kind then anyway. I am grateful they saw anything, to be honest.

I am waiting to hear the results from the doctor. They didn’t call first thing this morning so I left a message, because it may not seem urgent to them but it surely is to us.

She has now had 35 episodes since the 9th and that will, if the pattern holds, increase to 38 or 39 this afternoon. They are getting longer and stronger. Last night, she had the visual type combined with the unresponsive type and jerked constantly for 6 minutes – she swayed, then saw the usual light and visual distortions, then went limp.  I laid her back on the pillows where she jerked and twitched worse than she has before. Then it was over and she was fine, after she got over feeling like she had been run over by a truck.

She is having less warning  before it happens, so she is less able to call for help. She is going limp quicker, which means, if it hits when she is upright, she could be seriously hurt. Realistically, it is just a matter of time before that happens, unless she gets some effective treatment, asap. So, if I make a nuisance of myself, so be it. If the doctor’s office is annoyed, they can deal with it and come up with a plan or refer us promptly to someone who can.

But, the upside  is that she had episodes during the EEG so I am hopeful that they gathered information that will help us get to someone who can helps us figure this out. Because, frankly, it sucks. A lot. And we have to do something. Soon.

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. 🙂

Once again, we are in the process of trying to figure strange stuff out. And it is confusing, with everything Emily has been dealing with over the last few months. At this point, I am starting to wonder if there are some threads that tie some of the odder symptoms together. This post is going to contain details of the episodes she is having so I have a record here of them and a fair bit of speculation, trying to tie those threads together. I am waiting for the doctor to call back today. Hopefully we find someone to help us figure this out and soon.

Pertinent Back Story:

  • Blood work has shown some signs of MS 
  • Blood work has shown signs of sarcadosis. Lung x ray was clear but neurosarcadosis could be a possibility
  • Concussion (sandwiched between several  minor(?) head injuries) and Post Concussion Syndrome
  • Her neck has been pretty unstable – to the point of needing to wear her hard collar at times.
  • She has had ongoing issues with her throat [feeling as if it is] collapsing. She gags/coughs, strains, and stretches until she can breathe and swallow. It had settled down but is becoming a problem again.
  • CSF pressure is bouncing between high and low. If there was a leak, it seems to be better now and she is back to taking a small dose of Diamox three times a day. However, last night she felt like she had low pressure so who knows – it is all a guessing game at this point. None of the doctors seem particularly interested in pursuing this and we have bigger problems now, at any rate.

Last week, Emily started having “episodes”, for lack of a better word.

Tuesday 2-9

The first happened in the car on the way home from speech therapy last Tuesday. Her neck had been unstable since they messed with it on Friday at the Concussion Clinic and she was wearing her hard collar. Part way home, she commented that her vision went wonky and fell asleep – or so I thought. Turns out she was just sort of out of it – couldn’t speak and she appeared to be asleep but she was aware. When we got home, I had a hard time waking her up and when I did, she couldn’t move her arms and legs and couldn’t really speak. I got her out of the car, she was able to walk a little – she leaned heavily on me and I had to lift her legs up to step up into the house. Once I got her sat down, she started doing better. After a few minutes, I helped her to the bathroom and then to her room. She was still a bit out of it but then she cracked her neck and was fine.

I assumed this was all her neck because she said her neck was in a weird position in the car. It bears pointing out that she has said from the beginning that it wasn’t her neck that it was her brain, but we will get to that in a minute.

Wednesday 2-10

She had another episode the next day, this time laying down on her side. She was talking to me and said her vision got weird again and she felt groggy. Then she couldn’t move her arms and legs or talk for about a minute. I carefully moved her arms (she tends to lay with one arm or the other over her head) and she got better after a minute or so. Her pulse was 110 and her BP was 105/59 during the episode. Pulse was a bit high and BP was a bit low but neither was concerning.

Thursday 2-11

The doctor ordered an X ray of her neck, which we did on Thursday. (Still waiting on those results, but I would be shocked if it actually shows anything useful.) She said she thought she might have had an episode in her sleep and all day Thursday she had times where she felt groggy and felt an episode coming on but it wasn’t until late afternoon that she had a full episode. Again, she was laying on her side and the groggy feeling started, her vision dimmed and she couldn’t move her arms or legs. She could whisper one word responses to questions. I moved her arm and her leg and she got feeling back – first in her fingers, then her hand, then her arms, then her legs. She said she could breath during the episode but not deeply because her chest muscles were paralyzed like everything else.

Friday 2-12

She was sitting up writing in her journal and she suddenly complained that her vision got weird. She had been tracing over a word that she had written earlier. She though she was doing it carefully but her writing was shaky and all over the place. She felt an episode coming on and tried to hold it off. She laid down to rest and watch a TV show and suddenly she stopped talking and moving. She sort of hummed to get my attention. I moved her arm and rubbed her hand until she could move and talk. It appeared to me that her breathing was normal during the episode – a bit shallow and rapid but fine.

Saturday 2-13

I checked on her and found her groggy, mumbling. She rolled over and then couldn’t move. Again, she could give one word answers in a whisper. I moved her pillow because her neck was at a weird angle and, after a minute, she could move again. She started having trouble breathing and swallowing (looked very much like earlier episodes where her throat ‘collapsed’) so I helped her sit up. She asked for a warm wet washcloth to wrap around her throat and it helped. My husband witnessed this episode – he was puzzled but said it sort of looked like a seizure of some kind. I was still on the idea that it was related to the position of her neck but he got me thinking.

Sunday 2-14

She had three episodes in the space of an hour. For these three she wasn’t laying down – just reclining back on her pillows or sitting up on the edge of the bed. Twice we were talking and all of the sudden she got quiet and stopped moving. The third time I had left her alone for a couple minutes and found her unable to move when I came back.

She just stares forward and tries to answer my questions when this happens but can’t do more than whisper one word or just grunt or make some noise. I swiped my fingernail up both of her bare feet to see if she would react. She didn’t. I did it harder and she winced but her foot didn’t twitch. I pinched the pads of her fingers and pushed my thumb nail into her nail beds – no reaction. After about a minute (one episode last almost 2 minutes), she was able to gradually move again and started gasping for breath. I got a warm washcloth again and her throat relaxed so she could breath and swallow.

 

It was at this point I seriously started reconsidering that it is her neck. I started doing some computer searches and found a description of atonic seizures. It isn’t a perfect fit but it makes some sense. If she is laying down, which is doing a lot of these days, she wouldn’t drop so it wouldn’t be as obvious as it is in many cases.

These episodes last about a minute (other than that first one in the car, which was more like 15 minutes) and she is conscious and remembers everything. She seems to have some warning that it is coming on – a feeling of grogginess and then her vision dims. She cannot move or speak normally for a minute. If she was standing up, I suspect she would just drop – which is a terrifying thought in light of her recent concussion. On that subject, I am wondering if the time she fell forward off her bed and hit her head wasn’t because she was just dizzy but rather one of these episodes. And, having read up on seizures, I am wondering if some of her muscle twitches and tremors might be a type of seizure as well. Anyway, as soon as the episode is over, she is fine – able to talk normally and laugh and such.

The breathing trouble afterwards may just be incidental. From what I can see, during the episodes it looks like she is temporarily paralyzed. Like her brain isn’t communicating with her muscles. When communication is restored, her throat seems to spasm. Once that spasm is calmed, she is totally back to normal. Her head hurts afterwards and she continues to have neck pain but I am thinking that may be a result of her muscles relaxing so much – she has to put her shoulders back in after each episode.

Maybe it is her neck but I am doubtful at this point. I now think my moving her arms or legs had nothing whatsoever with the episodes ending – they likely will end after a moment regardless of what I do. I guess the other possibility is that she is having TIAs, although she doesn’t neatly fit in that box either. The elevated ACE test indicated sarcadosis – seizures and some of her symptoms can be a part of neurosarcadosis, so that needs to be considered. And the possibility of MS has to be on the table as well. I am going to try to get some video of these episodes so we have a record of them – maybe that will help us get this figured out.

So now we are at a point of who can help us figure this out? She has an appointment with the neurologist at OSU but that is a month away. We are beyond our local neurologist but if they can set us on the right track and maybe do some testing it would help guide me in seeking help at Cincinnati Children’s or at OSU. I don’t need to be right – I just need someone to help us figure out what is wrong and fix it.

 

 

 

 

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)

 

 

 

 

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.

 

I really wish our lives were boring enough to be able to cover events in a single post, but, alas, that is not the case. Have been needing to split posts into multiple parts a lot lately and probably will for some time to come…

When I left off last, Em had had a lumbar puncture and, although I asked for it and the doctor ordered it, the concurrent blood patch was not done. I asked for the blood patch to prevent the very likely problems that were going to occur after the LP – a blood patch simply helps stop a CSF leak from the LP site.

Em did fine after the LP, in fact, her head was pressure free for the first time in a long time. But, unsurprisingly, she started having problems by that evening. Her back was extremely painful and she was enduring a spinal headache – low pressure. She also appeared to have developed another leak in that same ear where the first presumed leak was and that probably added to the low pressure issue. Sitting up was painful, so she laid flat for most of the weekend. We dutifully waited out that time (as ordered) to get through the window until she got to the point where she was either willing to go to the ER or until the doctors would take her seriously.

Monday morning (the 18th) Radiology called to check on her and were concerned with her symptoms and told us to call the neurologist. I did and played phone tag with them for two days. When I finally talked to them, they said to either go to the ER or call the pain doctor. I called the pain doctor and was told he was not in and they had no answers for us.

So, I informed a very reluctant and miserable Emily that we had to go to the ER. Have you ever felt too bad to go to the ER?? (I know many of you know how that is.) Well, that is where Emily was Tuesday afternoon.

When we got to the ER, they took her seriously but likely because we were able to say the neurologist sent us. Which is why I waited until we had their word to go: it can get ugly when we don’t jump through that hoop. Anyway, they took her seriously and quickly got her into a room and got an IV and pain meds started.

Here, it is probably worth mentioning the thought process of the other parental unit in this situation.  You know I was angry and frustrated. My hubby was livid that they did not do the blood patch along with the LP and forced us to the ER resulting in yet another bill. So, he was already angry that we had to drag Emily out to the ER, in the bitter cold, on snowy roads, when it likely could have been prevented.

The ER doc walked into this minefield when she came in and said Em needed a blood patch but…

Well, it isn’t considered an emergency procedure so if there were no anesthesiologists available, we would have to just go home and schedule it for the next day. You can imagine how this went over with us.

Fortunately, the anesthesiologist on call was willing to come back in even though she had just gone home. I appreciated that – giving credit where credit is due.

When she got around to doing the procedure, she snapped on the gloves that were in the epidural kit that had been sent up. Unfortunately, those gloves were latex. You may remember that Emily is severely allergic to latex, to the point of if one glove was laying in the corner or if latex had been used in that room for the previous patient, she will have a reaction. Air born latex particles will cause a serious reaction very quickly. I mean, no, she hasn’t died yet from it, but she has taken Benedryl many times and there have been times it has been scary. I would really prefer we not have to prove how bad it is through her death.

So, Em is sitting on the edge of the bed, in pain, half naked, prepped for the procedure, scared out of her mind because she hates needles and vividly remembers how much the LP hurt and has been told this is going to be the same. I am not paying attention to anything but Emily at that point. I am in front of her holding her up, because I know she cannot hold herself up. She looks at me and asks if those gloves are latex. I look over her shoulder and ask, mostly to humor her, because they won’t make that kind of mistake, right?

When I ask about the gloves, the doctor stops in horror and says, oh crap. (Or something like that. My mind was racing at that point but that was the general idea.) And rips them off, apologizing. I look back at Emily and ask if she is ok. She says, “Not really.” So I tell the doctor she needs Benedryl. She assures me she didn’t touch her with the gloves and was horrified to find out that just taking them out of the package was enough to causes a reaction. So, she wraps everything up in the now unusable kit and rushes it out the door and gets the nurse, who brings in Benedryl. (Funny story, she brings it in with a syringe and Emily, in the midst of an allergic reaction, is like, hey, I have my own Benedryl in my bag, no need to give me a shot. I am good. Needless to say she was relieved to find it was going to go directly into her IV, although she was understandably suspicious until it was done.)

At this point, I am past livid. Especially when I realize they hadn’t put an allergy bracelet  on her when they checked her in. Would it have made the difference? Honestly, I doubt it. But that isn’t the point, is it? And why does this ill child have to save her own life?

So, they have to order a new kit and leave her sitting, miserable, freezing, scared, and feeling like they had just tried to kill her, for far too long. Finally, they get the new kit and the doctor and the phlebotomist both come in. The phlebotomist sort of joked that the hospital is a latex free facility and they must have found the only pair of latex gloves in the place. I call BS on that because I know better. Their system failed at every step of the way and could have killed her. This is being addressed.

The procedure was, well, not fun.  The doctor was trying to get her numb enough to do the procedure but never really succeeded. They took a huge amount of blood (20 mls) pretty quickly, too quickly for her. If I had not been holding her up, she would have been on the floor. You can’t take that amount of blood from a POTS patient without some effect. I thought she needed more fluids afterwards but she just wanted to go home so I didn’t push that issue, although I wish I had.

They gave her time to rest after the procedure and  then basically kicked us out. I asked for them to do something for her pain, which was now as bad or worse than it was when we arrived, because we had a 45 minute ride home and she was in agony. They had given her morphine, a couple hours before and were not inclined to give her anything else. They offered her a pain pill, half of what she already takes. The doctor came in and explained since she didn’t know exactly what was going on, she didn’t want to throw narcotics at Emily, which she ironically did anyway. She also implied that we would be violating our contract with the pain doctor if we pushed the issue.

In the end, we had a child who was in more pain than she was to begin with, making a liar out of me. I promised her they would help, that they would treat her pain. Once again, they have  bolstered the wall between this ill child and the care she needs by showing me to be a liar and refusing to take her seriously.

These experiences leave us battered and bruised, especially when they should have been prevented. There will be more to this story: we are not going to accept this kind of treatment without making some waves. The latex exposure is huge. Huge. That needs to be addressed. Because my husband works at this hospital, our insurance forces us to do everything possible there. If her specialists at Cincy order blood work or an MRI, can’t do it there, have to go to our local hospital. If she needs to go to the ER, we have to go there. But, they clearly are not providing a safe place for her to be treated. So, yes, this one is a hill worth dying on. They either need to get their act together or allow us to take her somewhere where she will be safe.

We also are going to fight the policy that prevented the blood patch being done along with the LP. I am not stupid – I get that the two procedures are done by different departments and it is complicated, but are you telling me it is impossible to schedule this? Seriously.

At best, this is a situation where the right hand doesn’t know what the left hand is doing. At worst, well, I hate to speculate about profit, but there it is. Then there is the fact that her doctor ordered the blood patch. Ordered it. I was not aware that a doctor’s order could be viewed as a suggestion. If they couldn’t do it, it was on them to contact him so he was aware. They did not call him, neither before or after, I have been told by him personally. Again, their system failed this child at every point.

So, we are beyond angry. There is absolutely no reason any of this needed to happen. To be told they can’t do the blood patch along with the LP and that we just have to go to the ER if there is a problem, only to find out the blood patch is not an emergency procedure, is mind boggling. To be told by the pain doctor’s office they have no answers for us. The whole thing is a nightmare, to be honest.

On the upside, I think the blood patch did help. Her pressure is normalizing (read: getting high again) and she is trying to manage the increasing pressure with her Diamox but not taking too much so it dips down into low pressure. That is a juggling act to be sure. The procedure did not help her back pain, but that is not too surprising. She is still in enormous pain – every movement is painful, but at least the blood patch wasn’t pointless.

We were able to get in to see the neurologist on Friday. That was a minor miracle. And there are other things going on as well, so I will be posting about all of that, trying to catch up. And, with any luck, there will be more to report on how our complaints are received. I don’t want anybody fired, although Emily and I have thought it would be useful to make everyone who had a part in the whole latex portion wear a scarlet “A”. I am thinking it would be an effective deterrent, but I suppose I won’t push that since HR might object.

Honestly, I just want to educate the people providing my daughter’s care. I want to help them be better. I want them to take her problems seriously. I want them to take chronic illness and chronic pain patients seriously.  I want policy to change – how many people have suffered and had no recourse like we do? It is not ok. I want to help them offer the care my kid needs. But, there are things that need to change and we are going to do our best to see that happen. In the meantime, Emily is slowly recovering – her physical wounds will heal but her emotional ones will take longer, I think.

 

What a week…

Or two or three or…. whatever. As bad as the last 6 months have been, this past week or so has been especially harrowing.

Em hit her head last weekend. Again. Not bad but bad enough to bring on more memory loss and very poor balance. And she had been having this weird thing where she felt like her throat was collapsing, which was more than a little freaky. Along with the latest head injury came worsening headaches and a very unstable neck. Just like 5 years ago, she was having all kinds of problems and I started assuming many of them were from cervical instability. And that was not a pleasant thought.

The concussion doc was willing to see her, but we agreed that there was nothing he was going to be able to do – time to heal and protecting her head from further injury is what was needed. So, we will see him at her follow up February 5th and wait and see. He is a phone call away.

We decided that some blood work – particularly to check her CO2 level but also a couple other things – would be a good idea. So I called the Neurologist to ask for that. I was not surprised when the answer I got back was that they were ordering blood work and a lumbar puncture.

For more than 4 years, we have avoided lumbar punctures. Not only was I aware that they might not be completely conclusive regarding high pressure but EDS folks are delicate enough that even this relatively easy procedure should not be done lightly. Once I found the Driscoll Theory, I was 100% comfortable doing a trial of Diamox instead of an LP. If Em responded to Diamox, then it would logically follow that her headache was the result of high pressure. We found one doc who was willing to try and the rest is history. The headache she had had for 2 years was gone in a few hours after that first dose. For almost 4 and a half years, we have managed her headache with Diamox, eventually  having to increase her dose and taking it 3 times a day rather than once, and we have managed her CO2 level (which allows the Diamox to work) with baking soda tablets. We had tried to skate around the issue with new docs, endured some eye rolling when we admitted she was being treated for high pressure but had never been actually tested for it and just generally crossed our fingers hoping no one would push the issue. It was all fine for 4 years.

But now, clearly something had changed. My suspicion was it was the head injuries but she probably had a CSF leak (in her ear) in December before the concussion, so maybe the headache is coincidental or cumulative or something, but the bottom line is what we had been doing was no longer working.

In my mind, there were 3 possibilities: she needed more Diamox to control the high pressure, her CO2 level was low which would mean she needed more baking soda tablets to bring it up so the Diamox would work, or there was something else entirely going on, like cervical instability. At any rate, I knew in my heart the time for an LP had come. So, I agreed but asked for a couple things to hopefully make the procedure easier and more successful. I wanted them to use an atraumatic needle, to minimize damage and leaking. And I asked that they schedule a blood patch to be done immediately after the LP, instead of waiting until she had problems. Because, let’s be real, there was a nearly 100% chance she was going to have problems.

The doctor’s office ordered both without issue, so I was happy.

A nurse from Radiology called to pre-register her for the procedure and asked a ton of questions about EDS and her medical issues. She was awesome. She promised to check into the special needle – she had never heard of such a thing before – and did say she wasn’t sure about doing the blood patch because they normally don’t do them but that she would ask the doctor and if she could do it, she would because Em is clearly a special case. So I was content that I had done everything I could to make the LP as safe and easy as possible. When I heard nothing back, I assumed the blood patch was a go.

Em was not thrilled – anything involving a needle is not her idea of fun – but as we waited for Friday I started thinking it couldn’t come quickly enough. Her headache was a 12 (on a scale of 1-10) when her Diamox wore off and a 9.5 when it was working. Clearly there was a problem: she was miserable. We got the blood work that I asked for done and were able to slide in blood work they needed before the LP at the same time, so we minimized the needles for her. When even a simple blood draw is challenging, is it any wonder we were nervous about a lumbar puncture?

We get there on Friday morning and once she is in the room and has been given some Zanax to help relax her, I find out that they will not be doing the blood patch. LPs are done by Radiology and blood patches are done by Anesthesiology.

“Sorry, I don’t know why you were ever told it was possible. It is our policy to not do them here”,” the nurse said. “If she has problems, you will need to call your Pain Management doctor or go to the ER.”

Now, at this point, I am starting to fume.  No one has called me to tell me this and I was given the impression it was happening. So, when she said that, I just gave her a look. The Look. Which she correctly interpreted. She sheepishly acknowledged that, since it would be over the weekend, we would, in fact, not be able to get a hold of the pain doc and that we would just need to head to the ER. I told her I understood this was not her fault, but that we had specifically asked for the blood patch to avoid almost certain problems that would arise due to EDS, avoid a trip to the ER, avoid being charged for the trip to the ER, avoid causing Emily more pain and suffering, etc.

So then I, huffily, I am sure, asked about the needle. She told me that they didn’t have the atraumatic type and the doctor didn’t think it would make a difference anyway. By this time I am livid…. Halfway tempted to tell them to stop and refer us to somewhere else that can meet Emily’s needs and I told the nurse so. And, that with all due respect, I disagreed with the doctor’s opinion and that I did indeed believe that the atraumatic needle is necessary. I was very unhappy and I wanted to walk away, but, in my heart, I knew she needed this procedure done and that it could wait another week or two to reschedule it.

Then the doctor comes in and introduces herself and tells me she will be using the special needle. I immediately, and understandably, assume that I am being lied to because I have just been told otherwise. But again, I feel trapped – not because it would be an inconvenience to stop the procedure, but by sheer need. And I did not believe I was going to get a straight answer even if I made an issue of being lied to. Then I had to leave my medically complex child on the table with people who I believed were lying to me. This may be the way things are done, but this did not help my mental state.

My hubby popped down (he works at the hospital) to check on us and he found a very unhappy mama fuming in the waiting room. He had to get back to work before she was done so I was alone when the doctor came out to talk to me.

Turns out she wasn’t lying after all –  she did actually use the atraumatic needle. She said she didn’t like it, it felt weird going in, although it worked fine. I don’t know if the nurse had told her I was mad about it and she decided to use it or if she was planning on using it all along, but… whatever. The nurse later apologized for telling me wrong, implying there was a lack of communication somewhere along the line. I tend to think the doctor changed her plan in light of my anger but I suppose I will never know.

She had to lie flat in recovery for an hour, but, and this is the third EDS specific request I made, I told them she was going to need to be in recovery for longer than normal. No matter how many times I said this, they still started pushing her out the door. At about an hour, they had her sit up – and she found that her head actually felt normal for the first time in a long time. Her head felt better after the LP than it did before. Her back, not so much. In the end, I could not fight both the nurse and Emily who said emphatically, “I am starving. Get me out of here and feed me.”

So we left, I fed her and she went home to lay flat for the rest of the day.

Anyway, after all was said and done, we did fortunately get some valuable information from the LP. You may have already guessed that by her headache being relieved by the LP that she did indeed have some high pressure going on. Her opening pressure was 20.2. The doctor told Emily that normal should be between 10 and 15; I read the range is 7 – 18. Either way, Em had high pressure, although she is on Diamox three times a day. She had taken her morning dose 2 hours before the LP, which means it basically should have been reaching its peak effectiveness when the LP was done.

We have our proof as far as I am concerned. I would be fascinated to know what her pressure would have been without Diamox – not that I am willing to find out, mind you. But, my guess is it would be quite high. In fact, the symptoms that had been plaguing her: headache, unstable neck, blurred vision, light/ sound sensitivity, even that issue with her airway, all improved dramatically when the pressure was relieved. Exactly like it did September 19, 2012 when she took her first dose of Diamox.

Once we knew that there absolutely was high pressure causing the headache, the burning question became: is her pressure high because her dose needs increased or because her CO2 is low, thus making the Diamox ineffective? Hubby was able to call that afternoon and get her CO2 level – 26. It needs to be 21 or higher. This clearly is not the issue. We don’t have all of her bloodwork back yet, but that was the important one at the time.

Oddly, she had what we think might have been another CSF leak Saturday night, in her bad ear. She was laying on the side with the ear that has been problematic for months now and suddenly said that her ear was wet. I declined sticking my finger in her ear like she asked me to but her hair was damp where she had been laying. And she got a tissue and, after laying on it for a while, it was damp. But, it cleared up quickly, we think, and we saw no more signs of a leak.

However, this leak may have added to the problems that were to follow. If that sounds ominous to you, you are on the right track.

Part 2, in which we unsurprisingly and very predictably end up in the ER and have LOADS of fun,  is coming up soon…

 

 

 

%d bloggers like this: