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!

Better?

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…

Chiari Chat

Another really bad day. She literally slept 2 hours last night. So she slept most of the day and just couldn’t be out in the living room in the light and noise at all. Her headache gets worse day by day, as does the nausea. She barely eats and is just in so much pain.

Was able to chat with Gretchen tonight – she and her daughter have Chiari. It was great to be able to talk to someone and not have to explain what POTS means. She was able to give me some guidance regarding the MRI – she suggested they may need to do a spinal MRI to really be able to see the tonsils. Or, it is entirely possible that the radiologist missed a Chiari malformation and it is right in front of his nose. So, we are still in a wait and see mode until we get to Dr. Tinkle but at least we have a bit more to go on! It was really nice to talk to someone who understands so much of what we are going through.

Grrrr…

Finally heard from the doctor late yesterday afternoon. The conversation went like this:

Nurse:  “The MRI is normal. There is a small cyst but it is nothing of concern. So, yeah. Everything is ok.”

Me: ” Ok, but she is not doing well at all and is getting worse. Can he refer us to a neurologist or something?”

Nurse: “What are her symptoms?”

Me: (Thinking, exactly the same as I told you one week ago except worse) ” Massive, horrible headache – her head feels like it is going to explode; dizzy, lightheaded, nauseated to the point of not being able to eat, pins and needles in her feet. Extremely light and noise sensitive. She is spending her days in a darkened room because her head hurts so bad. We have to do something…”

Nurse: ” I will talk to him and call you right back.”

I am trying really hard to not be angry but I am steadily simmering at this point. How dare they ignore symptoms that are potentially serious and tell us everything is fine? What do we have to do to make them understand how bad it is? Does she have to be neurologically impaired before they do something?

She cried yesterday when I woke her up to go  to her OT appointment. Sobbed in agony. She doesn’t cry. In the year and a half since she dislocated her knee, I can count on one hand the number of times she has cried. She didn’t even cry when she dislocated her knee – she looked at it and knew something was wrong and popped it back in without shedding a tear. Her teacher didn’t know anything had happened until Emily told her, after trying to continue with class! Then she walked over to me to tell me she needed to go home. She does not cry easily. But she sobbed yesterday, saying she just couldn’t do it. I am actually worried about her mental health. I have heard stories about people attempting suicide to get away from the pain of certain types of headaches and that scares me. The pain she is in is unbelievable and she gets no relief.

How can it possibly be better for her to be in endless pain than to give her something to relieve her pain?

So, the nurse called back an  hour and a half later to ask if we could talk to Dr Tinkle on the the 14th because the Reid neurologist was going to be leaving and it would be complicated. I tried to explain what I thought was going on and she said she would try to get us an appointment and would call in the morning.

At 8:45 she calls to let me know we have an appointment on the 15th at 8:30 – a day after we go to Cincy. It is better than nothing but still not great. So, now I guess we wait. If Em gets too bad, I guess we could call and try to get a quicker appointment or head to the ER. Maybe Dr Tinkle will take her symptoms seriously and move us forward.  Somebody has to, before she slips away entirely.

(Note to self: Andrew took her pulse and BP when we stopped in to see him yesterday after the OT appt. Her ox level was 100; pulse jumped around from 80 to 97 while she was just sitting. Her BP was 97/58, pulse 84. This BP reading was lower than normal. This seems to support my theory because if her brain stem is being compressed, it can cause BP to be low, in addition to POTS symptoms.)

I must have a crystal ball or something

Well, looks like I was right. The MRI (Andrew brought home a copy of the report) showed nothing except for a small cyst in her nasal cavity. Having looked it up (a retention cyst or a nasopharyngeal  cyst), I seriously doubt that has anything to do with her symptoms and it appears to be no big deal. It could maybe cause a headache but that is about it and nothing like the headaches she has.

According to the radiologist, nothing of significance was found – ‘otherwise normal MRI of the brain’.

The question we have is, were they even looking for Chiari? I wanted them to look for Chiari but that doesn’t mean they looked. Certainly a brain MRI wouldn’t reveal the Chiari related conditions and many radiologists don’t even mention Chiari when it is staring them in the face. So, these results mean nothing without a neurologist/neurosurgeon looking at them and looking at symptoms as well. Also, if we are only dealing with cranial instability, that would not show up on this type of MRI. She clearly needs an MRI of her entire spine so we can know what we are dealing with. And I want to see the images. I have seen enough Chiari MRIs that I would like to see her scans with my own eyes.

So, we are back at square one and trying to figure out our next step. I guess I should wait to see what the doctors office says before I start making my own plans but I am wavering in the confidence I have in them right now. Maybe he will refer us on to a neurologist but that will take weeks and I just don’t know that we have weeks. Maybe he will order more scans done now. Maybe I should make another appointment and make him listen to me. Maybe Dr. Tinkle will be able to help us – maybe he will get her an emergency referral to a neurologist at Cin. Childrens. Maybe we should just take her to the ER so a neurologist can take a look at her.

I just don’t know right now and all of those ‘maybes’ are hurting my head.

She has had a really bad day. Didn’t leave the darkened bedroom until 7:30 this evening. She feels worse than she ever has before. How many days can we say that? I was just about ready to take her to the ER tonight but she decided to come out and watch TV and eat a bit. So, a reprieve for now.

(Edited to say: Don’t know what the deal is with the date – it is actually 10:30 on the 28th, not March 1st. Thought I fixed it but it still has the wrong date,so I am stumped)

Waiting (Im)Patiently

I know it is only 10:00 am, but I am already tired of waiting for the MRI results. I know we will probably hear from Dr. Black’s office sometime today, but the unknown is killing me. My brain tries to make predictions in a vain attempt to be prepared. Pointless, I am sure, but it is something to pass the time.

So, here are my predictions. Time will tell if I am remotely correct…

75% –   Results will say nothing remarkable showed up on MRI. Told to go on our merry way, ignoring all of her symptoms.

10% –  Incidental Chiari is found but we are not told and only find out when we get a copy of the results.

7% –  Incidental Chiari is found; referred to a neurologist with an appointment weeks away.

5% –  Significant Chiari findings; referred to a neurologist with an appointment weeks away.

1% – Significant Chiari findings; we are referred immediately to a neurologist.

1% – Something other than Chiari is found to be significant.

1% –  They never call with results and we have to hunt them down ourselves.

Guess that about covers everything. Now we wait and see. I particularly hate the waiting and anticipating for something that will likely not move us one step towards finding an answer. You can see by my predictions that I think the odds are against any significant finding. Yet, because there is that chance, I sit here and wait with my heart in my throat.

Then the other part is, even if nothing is found, I know it doesn’t mean nothing is there. Only a true expert in Chiari and EDS will be able to really make a determination that I will believe. So, ultimately, the results of this MRI mean little in the long run. But I still sit here, waiting for the phone to ring, trying not to think of what is going to happen to my baby.

Tomorrow is the day

So we need to be at Reid Hospital by 8:30 to be ready for the MRI at 9. Not sure what will be found. I wouldn’t be a bit surprised if nothing whatsoever is found. Then again, they might find something of interest because something is clearly going on. Today was another bad day – I woke her up at 2:30. She went directly to my bed because she couldn’t stand light or sound and couldn’t sit up because she was so dizzy. She went back to sleep until 4 and it took me until almost 5 to get her woke up. She ate a decent supper but the nausea was a problem all day. She was starving but couldn’t eat much the rest of the evening. She ate a bit of  ice cream.

We were ‘introduced’  (via FB) to another family whose daughter not only has Chiari but EDS also. That is a good thing and I am looking forward to speaking with them.

Tomorrow will be a long day – whether it is productive or not remains to be seen!

The Snort

Well, been to the doctor. Got an MRI scheduled for Sunday morning at 9. That was really the goal so I should be happy…

But Dr Black snorted when I said I thought it was Chiari. He snorted. I am dwelling on that snort. I would like to think it meant ‘poor kid, it couldn’t be Chiari on top of everything else she is dealing with’. Unfortunately, I suspect it might have been more along the lines of ‘ this lady is several fries short of a happy meal’. He is a great doctor, I really like him and trust his judgement. But he is a deer in headlights when it comes to all my daughter is dealing with.

Like most doctors, he has heard of EDS and Chiari. Probably read a paragraph on each in a textbook back in med school. A page, tops. That is probably the extent of his knowledge. I mentioned POTS and autonomic dysfunction – no clue and he even admitted he would have no idea what to do about it. I know. Hydration, increased salt, maybe some caffeine, maybe not. Beta blockers if that doesn’t work. I know this because I spend hour upon hour researching all the stuff that is going on with my kid. It is my job. I must find out all I can to protect her from her own body. I just wish he knew about it without me telling him.

I probably was less than tactful – by the time we saw him, I was pretty wound up. Maybe I could have been more deferential, let him led the way and just gently toss my thoughts into the ring at a convenient moment. But, darn it, I don’t have time for that nonsense. This is my child. She is suffering. Her brain and neurological function could be at risk. I can’t dance around that, no matter who I annoy.

What this has brought home to me is the power that medical professionals have over me. I know I am well versed in all things EDS. I know about as much as a lay person can know about Chiari and POTS. I know what path we need to take to find answers. I should – theoretically – be able to stand as a partner with any doctor and seek the best care for my child. I thought I had stepped beyond a point of them being able to affect me because I have educated myself.

But that snort wounded me deeply. Deeper than I would have thought possible. I am dwelling on it. It lays bare all of my secret doubts, I suppose. I do worry about doctors looking at me and thinking Munchausens. I do worry that they think I am crazy or that we are attention seeking. I do worry about offending a doctor and burning bridges that could be needed at some point.

I don’t want to be the expert. I want a doctor to be the expert and take me by the hand and tell me he can make it better. I want to walk into a doctors appointment and not have to spell Ehlers Danlos or give a lesson on it or a related condition. I want to be cared for and have someone tell us how to make it better. In all fairness, he did immediately say we need an MRI to rule in and rule out. He never wavered on that point. He didn’t mention a neurologist and I personally think we need one ASAP. Guess it will be a matter of waiting to see what the MRI results are, although, as I know because of my research into Chiari, a neurologist must look at both imaging results AND symptoms in order to make a diagnosis. So, really, the MRI is just the first step in a long process, which is frustrating.

I don’t even know what to pray for regarding the MRI. I don’t want it to be Chiari. I really, really, REALLY don’t. I also don’t want it to be any of the related problems that go along with Chiari. I don’t even want it to be cranial instability. None of them would be good. All would likely require brain surgery. I can’t even bear the thought of Em having an MRI, knowing how she is afraid of it, let alone actual brain surgery. But, there is clearly something going on. I would be shocked if we aren’t dealing with cranial instability. I KNOW we are, as a matter of fact. And, at this point, I would bet money that there is brain stem compression to some extent. So, I guess bottom line is the usual prayer. ‘ If there is something going on, please let it be found quickly and let it be something that can be fixed. And please let us get to the right people to solve the problem quickly.’

I am getting less hopeful by the moment that we will receive help quickly for the current problems. And exactly what we need is speed. Why does it have to be so difficult?