"Suffering the Slings and Arrows of Outrageous Fortune"

Posts tagged ‘Cranial Instability’

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…






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.


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.


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.


Catching Up and Hanging on: Part 2 Concussion

Part 1 can be read here.

As we waited to get to the concussion experts – and fortunately we did not have to wait long – Emily’s concussion symptoms remained concerning. She is having trouble reading and comprehending, she struggled to write – to spell and remember the mechanics of language. As we passed the 3 week mark of her head injury, she was not getting better and, while she was perhaps not getting worse, more deficits were being revealed. I am not sure we even know the extent of her deficits at this point. When she is searching for a specific word, we go through a very entertaining version of verbal charades where she tries to make me understand what she is trying to say, with sometimes hard to follow logic and obscure literary references. Yesterday, she tried to use a story from the Little House on the Prairie books, to get to the word “fraternize”. We got there but, man, it was a circuitous journey! As always, we are still able to laugh at ourselves and the situation.

At the Concussion Clinic, we saw a rehab doctor, a neurologist and a doctor who I believe was a fellow, which is very common in our experience at Children’s. The exam revealed that her short term memory is crap, to put it plainly. She was given 3 words to remember. Maybe 5 minutes later she was able, with some effort, to pull up the first one, “green”. She was eventually able to guess the second word, “liberty” when given a prompt that it was another word for freedom. She could not recall the third, “automobile” even when given a prompt that it was a word for getting around. She guessed “car”, was told it was something like that and guessed “bus”. She remembered the word when he said it. She also took a fair amount of time to be able to say when her birthday is, which is not normal and is something she answers every single time she is at the doctor.

Her balance is off – she struggled to walk a straight line. Her eyes are not right – she either showed nystagmus or saccadic oscillations/ interruptions. (Her eyes were jerky when tracking side to side; I was able to clearly see them from where I was sitting. There was some discussion about this – I was familiar with nystagmus but had to look up “saccadic”. I was able to do so, even though it was a totally unfamiliar word, because we had a funny moment when Emily thought the doctor called her “psychotic”, “saccadic” does sound similar. He laughed and told her he would never call her psychotic to her face. We liked him quite a bit. 🙂 So, I was able to find what they said, I just don’t know the significance of it.)

So, they all agree that she did have a concussion and she has post concussive symptoms. Likely the fact that she (probably) had a CSF leak made her brain extra vulnerable to injury at the time because there was less cushion to protect it. They were concerned with the Diamox contributing to her CSF volume, but she was not taking it at the time of her injury. It was a day or two later that she started taking it again. They have referred us to speech therapy where they will assess her and do cognitive therapy to help get her brain back in shape. We are going to do that at our local hospital and they were fine with that. We will go back in a month and they will do neuropsych testing to further evaluate her, particularly if therapy is not helping as much or as quickly as we would like.

They were understandably concerned with the number of meds she is on. Frankly, they can join the club. Of course we are concerned and, yet, this is what has made her functional and removing any of them seems insane. They didn’t push that and said they would not mess with her meds since she has other docs overseeing them. I was thankful for that. Very thankful. Particularly that they left the Diamox alone.

The neurologist, through no fault of her own, should have come with a trigger warning. She was nice enough but she had the same basic advice that we got at the headache clinic at Cincy 4 years ago: eat your vegetables and drink your milk. Once again, her point is absolutely correct, as it was 4 years ago. Eating well and nourishing your body is vital to wellness. Unfortunately, that gets a little complex when one has a handful of medical conditions that make eating/digesting hard. Furthermore, when we mention that Emily is lactose intolerant and that detail is ignored because it goes against their standard protocol, it makes her a little tiny bit furious. That day, she was exhausted, hurting, scared and now this “chick” is telling her to drink milk. That said chick was a little heavy on barking orders and light on (visible) compassion did not help. Em has a, ahem,  less than favorable view of her but, I know she was just doing her job. And we have the same goal – to help Em. Once they left Em let loose about her and didn’t even laugh at my favorite medical joke: How are God and a neurologist different? God doesn’t think he is a neurologist. She did say she wanted to go give her neurologist at home a hug for not being a jerk and taking good care of her. And, presumably not telling her to drink milk.

We were suitably impressed with them over all; I feel like she is in good hands. However, I am not sure they truly understand her complexity. My guess is they don’t see a ton of (diagnosed) EDS patients in their clinic and so would have little reason to be familiar with it. I mean, you can understand the general mechanics of connective tissue and not fully grasp the entirety of what EDS will do to a person or how the simplest thing is a huge challenge.

They knew her shoulder was bad, she was wearing a sling – the MRI report was in her records, but it was like they didn’t quite grasp how unstable it is, how much it hurts and how much the CRPS pain affects her. The Rehab Doc was concerned over the tightness/knots in her neck and shoulders, because that typically is seen with concussions and contributes to the headache. What we were not able to really communicate is that that is not new – that is her baseline. And when we relieve those knots or muscle spasms, the adjoining joints often are unstabilized. Could that tension be contributing to her “concussion headache”? Sure. Is it going to be easily managed? Probably not. He wanted her to do a few stretches, some of which she cannot do because of her shoulder. In the end, he told us to talk to her PT and have him work on addressing it. The PT was incredulous that the doc would have her doing anything with her hypermobile neck and said, “Look, I don’t want to tell you to he is wrong, but don’t do any of that. We have to protect your neck. And you can tell him I said so.”

Once again, we are trying to navigate this ocean of conflicting advice. We just do our own research, try to know what we need to know and make an educated decision. We tend to go with the advice that makes the most sense at any given time and aligns the most with our understanding of all of the pieces of the puzzle. We also tend to go with the advice from the professionals who know her best.

So, the situation is at least as serious as I feared and perhaps more. It was really hard to see her struggle and see the fear and frustration on her face when asked to do a task she couldn’t do. But, concussions can take months to recover from and it is entirely possible that we will see her brain heal spontaneously over the next few weeks. Therapy will help and my husband, as always, has handpicked the best therapist for Em and her situation. We are optimistic and hopeful that she will get better in the near future.



Continued in Part Three: Shoulder…. Because that is a thing. Just not quite as big a thing as her brain.



Balance is the Key Part 1

The official theme of the 2012 EDNF Learning Conference was Living With EDS. And don’t get me wrong – it was great,amazing, awesome. We learned a lot and I am very grateful for the opportunity to attend. I appreciate the efforts of everyone who worked to make the conference a reality – EDNF staff, volunteers and speakers alike. But, (and there is always a ‘but’, isn’t there?) I have some mixed feelings about some of what was put forth.

If the official theme was Living With  EDS, then the unofficial theme was Don’t Let Fear Hold You Back. Which is great and all and I would have a hard time disagreeing with it on paper. I just found it a little strange to be bombarded with that concept because the recurring theme thatkept coming back to after each session was Balance is the Key.

I have to be honest, I didn’t totally get the direction that some of the speakers were taking us. And, to be fair, most didn’t go there and even those who did, I think, would readily agree with the concept of balance. There is a pretty wide range of opinion among the EDS experts – which is somewhat entertaining (particularly when they are all in the same room answering questions) but also somewhat unnerving. I suspect that they would be more in agreement than not, but I heard enough contradictory advice that really made me doubt that. What each speaker actually says and what the listeners actually hear, really matters. And, what came through for this listener was a consistent emphasis on issues and concepts that were, perhaps, not totally helpful and somewhat confusing.

For instance, in the Parents of Children with EDS Discussion Group, which was facilitated by a very knowledgeable doctor/mom who has EDS and which ended up being more of a Q and A with her instead of being a discussion group, a question came up about a basically asymptomatic child with a strong family history of EDS, who was having foot pain while playing the goalie position on his ice hockey team. The answer below came among other answers to other questions like ‘your kids are manipulating you and playing the ‘I am tired’ or ‘I hurt’ cards to avoid doing things they don’t want to do’ and an apparent lack of concern for the child who has had multiple fractures but continues to cheer. While I firmly believe that each family living with EDS must answer the sports question based on their own situation, there being no one right answer, I was a bit flummoxed by this and was stunned by the departure from the cautions we personally have been given by most of the doctors we have seen. I was sitting there thinking about all of the adult EDSers who were irreparably damaged because no one intervened when they were children and wondering why caution was absent in 2012…

The Don’t Let Fear Hold You Back answer to the hockey question: It is true that the initial statement given in response was that perhaps hockey is not the ideal sport for a kid with possible EDS, but that was quickly followed up with the suggestion that you can’t put  kids on a shelf, you gotta let them live, just give him orthotics and wait and see what happens.

The Balance is the Key answer (aka my opinion): No, you can’t put EDS kids on a shelf, but as a parent you sometimes have to make really hard, unpopular decisions. At the very least, the child in question should be given opportunities to enjoy a variety of activities, athletic and otherwise – all children should be well rounded and that is particularly crucial for EDS kids. If the time comes when hockey is no longer feasible, the child should have other activities he loves to fall back on. I speak from personal experience: it is devastating to watch a child lose the activity which defines them. Parents have the power and authority to guide their children into the least damaging activities and, for goodness sake, if you know about EDS before your kid has a life altering injury, you have the chance to protect them and teach them how to protect themselves at the same time! A beloved sport does not have to be an all or nothing proposition: you can tweak and make adjustments, avoid competitive versions and so on, but sometimes you have to walk away for your own good. Figuring out which is the right answer at any given moment is a valuable lesson for a child with this life long condition. It really is about finding the right balance – you might have to fight to find that balance, particularly since it is constantly changing but that should be the goal. 

As I already mentioned, in the ‘discussion group’ the topic of  ‘how do I know when my kid is playing me’ came up. The question involved my kid ‘miraculously’ is able to do fun things, but avoids the not-so-fun things.

The Don’t Let Fear Hold You Back answer: Yes, your kid is playing you. You have to be tough, make them get up off the couch. They don’t get to do anything fun until they manage to go to school all day. I went to medical school, I had 4 kids. You have to push them to achieve. (Admittedly, this is a simplification of what was said, but I don’t think it is inaccurate – at any rate, it is what I heard from this conversation, which goes to my earlier point that what is actually said, matters. I only heard the tough love attitude until a lovely mom in the group spoke up and her comments are shared below.)

The  Balance is the Key answer (via the very wise mom who happens to be a reader and who was brave enough to speak up in the climate of tough love):  You might have to make adjustments to their schedule so they can do more, don’t necessarily assume you are being played. Shortening their school day can make it easier for them to do both the fun and not-so-fun. Be willing to look for solutions.  She and I spoke afterwards and agreed, that for these kids who are really ill, they deserve a chance to have fun and be normal sometimes. It is totally unrealistic to demand that they spend their limited energy solely on school. What kind of life is that? Again, balance is the key. Yes, kids – even sick ones – need limits, but that must be tempered with an understanding of the condition they are living with. As parents of EDS kids, we have just a few years to get up to speed with knowing everything we need to know about EDS so we can teach our children everything they need to know about it before they are grown and have to manage their condition on their own. It is our job to teach them to take care of themselves and when we tell them to just push through, we are doing them a grave disservice. Too many parents come to the EDS diagnosis with unhelpful, clueless attitudes that were passed on from their own childhoods. Often, they don’t fully understand how damaging those messages are to an ill child. They are not lazy, bad, attention seeking or crazy. They are ill and they need help managing this life long condition. Sometimes they need a kick in the butt and sometimes they need a hug. Balance is the key! (Tracy, if I misrepresented your thoughts, feel free to correct me!)

Another instance that comes to mind is Dr. Levy’s talk on ‘It’s Not in Your Head – Or is it?’  He said a number of times: Don’t let fear hold you back… And again, I mostly agree and yet I was a little confused because some of what he said sort of contradicted the typical advice we get. Is it joint protection at all costs or don’t let your fear hold you back. Or something in between?

The Don’t Let Fear Hold You Back approach: The gist of his talk was that pain is hugely impacted by your mind – which is a no brainer (no pun intended) for most of us. He spoke of not allowing fear of dislocating keep you from an activity. That you should not let fear hold you back from living life.

The Balance is the Key approach:  I know that reality gets a little skewed for the EDSer and they can dwell in an unhealthy fashion on pain and fear, but sometimes pain still is an important signal to be heeded and sometimes fear can protect us from doing something that could be harmful. Telling an EDSer to ignore pain and fear might be equally as harmful as encouraging them to wallow in pain and fear. I don’t think the answer is one or the other, rather, it is finding the correct  balance so you can live to the fullest extent possible. I do not think if you say, if I do that particular activity, I will most likely dislocate and it will hurt, that it means you are living in fear. That may be a practical assessment of reality that leads you to either making a different decision or tweaking the activity in such a way that you can safely do it. On the other hand, you don’t want to look at the world from your bed and say I can’t do anything. I happen to think that is a terribly rare attitude – the vast majority of EDSer want desperately to live to the fullest.  EDSers should be taught to listen to their bodies and analyze the risks and make wise, informed decisions so that they can live life fully.

It is true that fear is a real part of living with EDS. There are some very real things to be afraid of. So real, oftentimes, that it can be paralyzing. And, that we are sent such contradictory messages from our experts, is part of the problem. At the same conference, we heard both sides of various arguments. Have surgery, don’t have surgery. Avoid high impact activity, go ahead and play that sport which has injured you multiple times. Rest, push yourself. It was confusing and frustrating at times.

I finally have realized that part of the frustration I was feeling was that there is such a huge range of impact within the EDS population – and any given set of comments was being  broadcast to everyone, regardless of whether it was applicable or not. The barely impacted and the severely impacted got the same messages – with the mild to moderate folks getting the most advice. And those bits of advice just don’t always fit everyone. So, the discussions of POTS mattered a great deal to those disabled by it, but were rather meaningless to those who aren’t dealing with it. Discussions of which sports should kids play and under which limitations mattered a great deal to kids who are still well enough to play, but fell on deaf ears for those of us for whom playing sports is a distant dream. EDS treatment/ advice is never, ever one size fits all. And we all need to keep that in mind. The parent of the mildly affected child should cling to the knowledge that not all EDSers are functionally disabled. The parent of the severely affected child should cling to the knowledge that many do get better, particularly with the right treatment. But that is hard to do when you are hearing a one size fits all message and trying to figure out how it fits in your life. And, for those of us whose lives have been violently turned upside down by EDS, it was frustrating to feel that our very real concerns were not fully addressed and even minimized at times.

In part 2, since part 1 is already way, WAY too long, I want to talk about how a discussion of what we know about why some EDSers are so terribly ill would have been beneficial to have at the conference. And probably other stuff like how this balance is the key business is easier said than done, as well.

If you are with me this far, pat yourself on the back and congratulate yourself for plodding through! Do something nice for yourself because you deserve a reward! Part 2 is on the way…

The Key

New Year, New Hope

As I look towards the coming year, I cannot help but look back at 2011 as it finally comes to an end – 2011 was a year of both despair and miracles for my family.

This time last year we were waiting to get to Dr. Tinkle to get an official diagnosis of Ehlers Danlos Syndrome and we were watching our daughter get worse, day by day. As we headed into 2011, Em’s neurological symptoms got worse and worse and we had absolutely nowhere to turn for help. Her decline was rapid and terrifying. The ‘autonomic’ symptoms started in August and the neurological symptoms then hit with a stealthy vengeance that annihilated her quality of life  in a matter of weeks. In December and January she was feeling worse as each day passed. I remember researching Chiari in early January and, with a sinking heart,  becoming convinced that her symptoms fit;  if it wasn’t Chiari, it was most likely cervical instability, which was equally as terrifying. By February, she was in bed more and more, unable to function. By the end of February, she was spending all of her time in a darkened bedroom – in severe pain, severe headache, severe light and noise sensitivity; so dizzy she could hardly sit up, so nauseated she could barely eat.

We finally saw Dr. T and got a diagnosis, which was a huge relief. But, even with that, there seemed to be no firm answers about the neurological symptoms – although, Dr. T and the neurologist both agreed Em most likely had cervical instability. I started preparing myself for the idea of a fusion surgery and tried to prepare Em as well.

In early 2011, we hit bottom – we were in a deep, dark valley where despair stalked us and never left our side.

Heading into 2012, we are now full of hope. How could we not be hopeful, when we have been granted our very own miracle? In June 2011, I got a glimmer of hope when I happened upon the Driscoll Theory. I did a lot of research, I compiled information and gathered our personal ‘evidence’ and finally knew it was the answer. The next months were challenging, as we embarked on a futile and frustrating journey to get our doctors to consider the Driscoll Theory. But, we eventually prevailed and we got our miracle.

So, instead of a couple neuro surgeries, Em got a couple medications – Diamox and Zyrtec and Zantac – that have made all the difference and given her back her life. And now, as we head into 2012, she is going to be able to live a semblance of a normal life. She will be able to work on her physical and occupational therapy to strengthen and stabilize her joints. She is going to be able to do her school work and start catching up. She has a chance of being an almost normal 13 yo girl.

I learned many valuable {HARD} lessons over this past year and I am ready to take on 2012. I know my daughter’s life will always be  challenging but I have hope that she can and will continue to get better.

Because of  Dr. Diana Driscoll, the people living with EDS have hope and have the possibility of safe, effective treatments for some of the worst of their symptoms.

2012 is looking very hopeful indeed! Happy New Year to all – may the coming year bring peace and hope and health to each of you!


Last night, after Em took the Diamox for the first time, it was a little like waiting for a stay of execution. Would it really work? Would it dehydrate her? Was this the answer or just a dead end? I started doubting that it could really help like I thought it would. A miracle just couldn’t really happen. What if all those doctors who said no were right and I was wrong?

She took the medicine at 10:00. At midnight she told me not to freak out, but her head was feeling better and she wasn’t so dizzy. She said her headache was a 4, when it had been an 8 or 9. At that point, I started breathing a little easier and stopped second guessing myself.

This morning when she got up, she said that her headache wasn’t gone completely but it was a 2. For more than 2 years, her headache has been at least a 7, usually more, all day, every single day. Reducing to a 2 seems like a miracle in and of itself but it will only get better.

Then I asked about her blurred vision – since sometime this spring, when she turns her head to the left, her right eye blurs; when she turns to the right, her left eye blurs. (This fact has freaked out a number of doctors and had them thinking it was caused by cervical instability impeding the arteries to the brain, which is why we were on our way to a fusion.) Well, this morning she turned her head and her vision didn’t blur.

I think we are on to something. She only took a small dose last night – 62.5 mgs. We will probably try the 125 mgs to see if that gets rid of the headache altogether. We can fiddle with the dose until we get it just right.

But, we are definitely on the right track. We will keep an eye on her and push fluids so she doesn’t get dehydrated – but I am not terribly worried about it at this point.

So, I guess we got the stay of execution after all. I am thinking that a cervical fusion is looking less and less likely. And a life with less pain is more possible. That is really a miracle. Gotta thank God and Dr. Diana! (Go to prettyill.com and check the theory and videos!)

Today is a very good day and those have been awfully scarce in the last two years.

[Regarding the tilt table test, I talked to the pain clinic and they have advised on how to titrate the amitriptyline down (and back up) safely over a few days, so Em won’t be off it for too long. It is frustrating because we are just getting to a good level and getting good results from it, but I think we can handle a few days off. The test has been rescheduled for next Tuesday, so that is all working out well.]

What now? Part 1

Our experience at the Headache Clinic yesterday was horrible. The proverbial ‘when you hear hoofbeats, look for a horse not a zebra’ experience. This was the most flagrant zebra experience we have had so far and it was not fun. This doc had a honest to goodness zebra in the room with her and only saw a horse.

We got exactly the  type of doctor I knew would doom us. I thought that doctor of doom would be an older male doc. Turns out a young, female doctor was our nemesis. She is apparently psychic because she knew what the diagnosis was before she ever stepped foot in the room. It is migraines. Period. EDS has nothing to do with it.

She derisively scoffed at cervical instability. (Her psychic abilities came in to play when she looked at the  supine brain MRI and knew that Em’s neck was perfectly stable. Golly, I wish I had that super power!)

She condescendingly dismissed the Driscoll Theory. After all, what is a mere theory when she has a spiffy, highly successful, tried and true Protocol for migraines. That a silly little optometrist conceived of said theory, why that is simply laughable. (In this case opotometrist is pronounced as follows: [pregnant pause] [followed by a quick, shocked gasp] op – TOM– a – TRIST [enunciated slowly and with deep pity for great effect])  That’s when I started getting mad. As if her precious Protocol (capitalized because that is just how darned important it is) wasn’t a theory at one time. Still is as far as I am concerned, but I am getting ahead of myself.

Back to the Driscoll Theory vs Migraine showdown. I explained, as briefly as I am capable, which is to say not briefly at all.  The first time I asked if we could try Diamox, she said no and asked why we were there if we weren’t going to accept her advice. The second time I asked, she told me to have this person doing this study prescribe diamox. (Cue nasty optometrist comment here. Emily told the doctor that Diana Driscoll lives in Texas so it probably wouldn’t work very well to have her prescribe anything anyway and that is why we are here with you. Love that kid. ) The third time I asked, she told me that all she could do is give her (brilliant, stunning, perfect) recommendations about treatment and it was up to us whether to follow said recommendations or not. I figure about that time is when she realized that we are not the compliant sort. It went downhill from there.

Bless her little heart, this neurologist struggled to understand most of what we had to say, possibly because she had an automatic translator that turned everything into evidence for migraine.

For instance, she said ‘So, I see you have a history of headaches in your family.’ Us:Uh, no we don’t.’ Her:have you ever had a headache?’ Us: Well, yeah, like maybe a couple times a year *, who hasn’t?’ Her:Oh, well that explains it, headaches are genetic and your history explains a lot. Lots of people NEVER have headaches and you do so this is clearly migraines.Us: Speechless.

Another for instance: I handed her a printed copy of the Driscoll Theory and began to explain it. She stopped me and asked, ‘But, wait, was this study done on migraine patients? ‘ ‘No?  Ah, just on EDS patients. I see.’  Nods knowingly.

Last example: ‘So, you are going to need to stop taking your Tylenol and Aleve because that is causing your headaches.’  ME: ‘Um, you honestly want to take her off the only pain medication she has? You know she has EDS and chronic joint pain, right? Dr. Tinkle prescribed both for pain relief and joint preservation.’ HER: ‘She is taking it for joint pain, not headaches?’ ME: ‘Yes, that joint pain we mentioned earlier, you know, from the EDS..’ Her: ‘Well, headaches are caused by medication overuse.’ ME: ‘You do know that this headache, not plural, singular, started long before she was ever prescribed Tylenol and Aleve in March? Like a year and a half before… So, how could the medication have caused it if she wasn’t on it yet?’ HER: ‘Well, did she ever take anything for the headaches?’  ME: ‘Well, yeah, maybe a couple times in the beginning but it never worked and she doesn’t like taking medicine anyway so she didn’t take but a couple times…’ Her: ‘That’s your answer, if you take tylenol more than 10 times in a month it causes this sort of thing.’ ME: Speechless, again.

It would have been comical if it wasn’t my daughter’s brain at stake. There were other moments with similar lost in translation issues but this is already too long. I will have to do Part 2 and include some of Em’s priceless additions to the conversation.

The Protocol –

~ No pain meds for as long as it takes. Probably at least 6 months, maybe ever. Yes it will be rough, but it is the only way. Great plan. Thanks for the help.

~ When she ‘gets’ a headache, she needs to chug 32 oz gatorade. Guess she will be chugging 24/7 since she always has a headache. Better stock up on gatorade.

~ Increase the amitriptyline to 62.5 mgs. Hmm, the pain clinic was only willing to go up to 40 mgs. I love conflicting medical advice.

~ No caffeine. Can’t really think of anything snarky to say there. Wouldn’t kill her to avoid caffeine.

~ Stay well hydrated, drink a 2 liter of water every day. Already doing that and have been for a year, but thanks anyway.

~ Eat lots of vegetables. Okaaaayyy.

~ Eat lots of dairy. Ignore the lactose intolerance.

~ Eat lots of protein. I am sensing a pattern here. Perhaps she should EAT? This could present a problem since she has severe nausea and little appetite. Dr. Tinkle said graze all day, avoid big meals. They say eat 3 big meals a day. Whatever.

Frankly, this doesn’t seem like much of a plan. Perhaps if I had a kid who had migraines because of poor lifestyle choices, this would make sense. However, the neurologist totally ignored the big picture and other factors involved. All she saw was a kid with migraines who happens to have EDS. (Perhaps she has special glasses to go along with the migraine translator.) Even if I hadn’t gone in with an alternative plan for her reject I would be disgusted with this visit. She treated us very poorly, was dismissive and condescending, she ignored everything we said and made up crap to support her own conclusions. Worst, she  utterly disregarded this child who needs help desperately so as to bolster the success of the her precious Protocol. This was not medicine. This was  a drive by doctoring. I don’t even know what it was, actually. I just know it was not medicine.

So, the question is ‘what now?’ I honestly do not have an answer at the moment.

* Funny, my husband and I rarely ever have headaches but for some crazy reason, we both had splitting headaches after leaving the Headache Clinic yesterday. Go figure! 🙂

The Driscoll Theory and how it might help us…

I have been meaning to post about the Driscoll Theory for a while now and just haven’t gotten around to it. However, I think it could make a huge difference in my daughter’s life and the lives of others, so I feel led to get the word out.

Dr. Diana Driscoll is an optometrist who also suffers from EDS and POTS (and other junk). She has used her medical knowledge to piece together information about her own condition (and her childrens’) and has shared that with the rest of us. I will attempt to summarize her theory, as I understand it, but I encourage everyone to go to Dr. Diana’s web site and check it out for yourself. (Go to the articles and handouts section of her website and download the article. You can also watch a video where she explains part of the theory in person.)

Anyway, many people with EDS also have ugly neurological symptoms – headaches, dizziness, fainting, tachydardia, light and sound sensitivity, nausea, fatigue, brain fog, aphasia, blurred vision, anxiety, and on and on. Many of those symptoms are POTS symptoms. Many of those symptoms are Cranial instability and Cranial settling symptoms. Also, there are some EDS patients who develop MS, strangely enough.

POTS is experienced by about 1/2 of EDS patients -in fact, orthostatic intolerance is a minor diagnostic criteria for diagnosing EDS. The theory is that the blood vessels are ‘floppy’ due to the defective connective tissue and aren’t able to act on the brain’s signals, resulting in orthostatic intolerance. That assumption could be true in some cases. However, Cranial Instability symptoms definitely overlap with POTS symptoms – when the brain stem is being ‘squished’ the body just doesn’t work quite right.

In the last 10 years, the Chiari Institute has discovered a definite link between EDS patients and Chiari/ Cranial Instability/ Tethered Cord, explaining many of the neurological/POTS symptoms EDS patients experience. In fact, the Chiari Institute automatically screens their patients for EDS now. Instead of being ‘impossible’ to have both EDS and Chiari (there technically is a 1 in 25 million chance of having both), the stats now tell us that 1 out of 15 Chiari patients also have EDS. This is because a Chiari Malformation can be acquired, not just congenital, through cranial instability, a tethered cord pulling the brain down, lumbar punctures, etc.  The processes created by defective collagen can result in a Chiari Malformation or, at the very least, crowding of the hind brain which result in the Cerebrospinal fluid being blocked, causing a plethora of symptoms. This blockage of CSF flow is believe to be the main culprit for all of the symptoms experienced.

The treatment for POTS is to drink lots of water, increase salt intake and  medication if the home remedies don’t work. POTS symptoms are extremely debilitating and don’t always respond to treatment, particularly in EDS patients.The treatment for Cranial Instability is cervical fusion. The treatment for Chiari is decompression surgery. Unfortunately, these surgeries often do not have ideal outcomes for EDS patients – EDS folks are always more complicated and often get only temporary relief from these serious surgeries.

This is where the Driscoll Theory comes in. Basically, she has found a correlation between low levels of high intercranial pressure and EDS patients who eventually develop POTS. The thought is that CSF builds up above the brain and the pressure actually pushes the brain down, creating the POTS and Chiari symptoms, in general making the person feel horrible and wreaking havoc in their lives. This CSF blockage just gets worse over time and will eventually result in brain damage – or even MS. Lumbar punctures would only make the symptoms worse. Decompression surgery and even fusion would only make it worse.

The awesome news is that a simple medication called Diamox can immediately start improving the symptoms. It is a mild diurectic that reduces the intercranial pressure and lets the brain float properly. The poor results EDS patients often get with the neurosurgeries I mentioned above can easily be explained by the Driscoll Theory – it could radically change the course of treatment for EDS patients experiencing these symptoms. Dr. Diana’s initial study found a connection between EDS patients who have this symptomology and who had externally communicated hydrocephalus as infants. This has traditionally been considered a benign condition and not investigated but it could be the clue to intervening earlier in these childrens’ lives – before they experience such debilitating symptoms. She is doing an additional study to further investigate this connection.

This new information gives me so much hope that we can avoid surgery for my daughter; I can’t say how excited I am by this prospect. Trying not to get too excited but I now actually have hope – I really don’t love the idea of my baby having several neurosurgeries. I really, really don’t love the idea of those surgeries failing and doing nothing to help her symptoms! I was resigned to surgery, but now I have hope that it won’t be necessary and, if it is, we can only do what is absolutely necessary instead of blindly going forward.

Now, I know I am vastly oversimplifying this theory – there are components I didn’t even mention. It also includes Mast Cell Disorder and CCSVI and other stuff that complicate EDS. I have picked out the parts that apply to us the most. I really don’t know about CCSVI in regards to my daughter; my gut tells me no. I am mostly convinced at this point that she could have Mast Cell Disorder. (Mast Cells are created in the connective tissue. That right there is enough to convince me!) That treatment is quite simple as well – zyrtec or zantac – so I will be investigating that option for my daughter. There is information on the EDNF website about a study regarding EDS, POTS, and Mast Cell Disorder, so this is an amazing time for EDS research!

So, with the Driscoll Theory in hand, we will go to the Headache Clinic at Cincinnati Children’s and politely ask if we can try Diamox to see if it helps. I figure it is a quite benign medication, so, if she is going to be put on any meds, why not Diamox? Something that could help us avoid surgery all together or even temporarily would be amazing. Heck, I will even take something that just makes Em’s headache better for a few minutes. She has no life right now due to her headache and the thought of a simple little pill restoring her life, well, that would be an absolute miracle!

I encourage anyone with EDS to go to Dr. Diana’s web site and check out this theory and consider if it applies to them. I don’t think Diamox would make any difference for someone with ‘regular’ POTS but for EDSers, it is definitely worth thinking about.

Click here to read about our success with the Driscoll Theory: The Driscoll Theory and how it helped us…


Em is done with the prednisone course – finally! It didn’t really do much for her and she is relieved not to have to take it every day. It definitely improved her appetite, which was extremely poor when she started taking the prednisone. She was eating very little and now, although still nauseated, is eating almost normally. Hopefully that effect will stick around for a while but her appetite had nothing to do with being put on it in the first place – it was just a side effect that was positive in her case.

As far as her headache, we haven’t seen any noticable improvement. She did say at one point, that she didn’t realize that it was helping until she starting going off it. Not sure if that was just a night where she had an exceptionally bad headache or if the prednisone actually has helped. If so, it has been a slight help. She has been up and around more – she still spends most of her time in my room with the lights dimmed, but she spent the weekend with family and was in the living room/kitchen the whole time. Even went to Greenville to go out to eat. She is paying for it now, but maybe the prednisone has helped a bit.

No real improvement in the other neurological symptoms. She is still dizzy, lightheaded and nauseous. Then there is the blurred vision and eye pain. She is having a hard time tolerating the collar – it hurts and makes her dizzy, and it puts pressure on her teeth and jaw, exacerbating the TMJ issues. She is also having severe neck and back pain.

Last night, she was popping her neck *again* (makes me cringe everytime – I know it is almost beyond her control, but it is potentially life threatening. Especially when it is associated with additional pain and increased neurological symptoms). She said when she moves her neck, it feels like everything is moving around and too loose, particularly when she bends her head back.

I am anxious to hear what the neurologist has to say tomorrow. We never did get the x-ray report, so we are in the dark regarding the findings. I asked Andrew if he thinks it could be anything other than cervical instability and he said no. I wish it were something simple to deal with but I think we have started down a very difficult path. Hopefully, Dr. Parnell is able to start  the process and get the ball rolling.


Em’s condition has improved slightly, but she is still not doing well.

She went to co-op on Friday for a couple hours. I know she needed to get out of the house and see her friends and feel like she has a life, but even a couple hours was too much. She slept very little Thursday night and was exhausted all day. She managed though, so I guess she got a little benefit out of it. She did pay for it – she felt absolutely awful Friday evening. Fell asleep at 8 and slept through til 5:30.

Since Friday, she has been eating and sleeping more normally. The nausea has reduced some so she can eat without the nausea being unbearable afterwards. And she is sleeping more at night and less during the day. The headache and neck pain are still bad. And she is having hiccups frequently. Apparently, hiccups can be a symptom of Chiari, so I don’t know if it means anything or if it is a coincidence.

Not sure if she is really better or if she is just having a couple good days. Even when the good days are few and far between, we take them gladly. Any reduction of the pain is a good thing. But, as usual, I am waiting for the shoe to drop. We just need to make it until the 14th…

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