Chiari Malformation

This post is going to be harder for me to write than my daughter's birth story, Uncertain Blessings.

Sure, it wasn't easy to talk about how my baby was diagnosed, in utero, with a potentially lethal neural tube defect (encephalocele) and a Chiari Malformation. It wasn't easy to talk about the fear, and later the hope, that I felt as I went through the remaining 18 weeks of my pregnancy. It wasn't easy to describe how I felt as we waited to see if our baby girl would survive her birth, but it was a little easier to talk about all of that because she survived.

She not only survived, she is kicking ass! Born four weeks early, she had neurosurgery at 11 days old and just 3 days later she went home from the NICU and became the star of my world. Even though she was on C-PAP for her first three days in the NICU, and she didn't start breastfeeding until she was five days old, she was a champ and nursed until she stopped on her own at 13 and a half months.

She was a little late to roll over, but she could sit unassisted at five and a half months. She started crawling a little late at 13 months, and at 16 months she has only one real word, but she can sign a few words, and point to more than 10 of her body parts!

Her words may be a little slow to come, but she is amazing! She has no serious medical issues related to the encephalocele or the Chiari malformation. She is a great eater, a great sleeper, and a super cool kiddo. She loves books and music, and she recently began to take interest in playing with our super lazy dog, Samson. In short, life is good.

So why am I still scared?

We didn't move Lily into her own room until she was 8 months old. There weren't any medical reasons behind this.  Sure, I was still breastfeeding, but that is not why we kept her in our room for so long. She stayed with us because I was not ready to let her move across the hall. I wasn't ready to let her out of my sight.

I was scared to death that something would happen to her in the middle of the night, and I would lose her. I wanted to keep her close so I could literally hear her breathing. So I did, for 8 months. I would only agreed to move her if we could buy one of those stupidly expensive video monitors. My husband agreed because he knew that if she slept in her own room that we would all get more sleep. Of course, he was right. When we moved her to her crib, everyone slept better, but I still worried.

At first, I would wake up every couple of hours in a panic and I would check the monitor. Truth be told, I did this for several months when she was still sleeping in our room. I would fall asleep and then I would suddenly remember, "I have a baby! What if she stopped breathing? How could I be so irresponsible as to fall asleep?" I would jump up and gently lay my hand on her back to make sure she was breathing.

Now that she is in her own room, I still wake in the middle of the night and try to focus my eyes enough to see her breathing on the monitor.  If I can't see the gentle rise and fall of her little chest then I quietly creep into her room to either listen for her breathing or lay my hand upon her to check. Sometimes I do both.

Here is the confession that I have to make, the reason I am writing this post.

The thing that I have never said out loud to anyone.

Every time I lay my hand upon her small body I almost expect that, this time, she won't be breathing. I prepare myself for the worst: I have lost her. She is gone.

Wow, just reading that scares the shit out of me. Why do I think that? It drives me crazy. In some ways, I blame my mother, she always thinks the worst things are going to happen to the people that she loves and it seems she has passed that irrational thought process down to me. She says she is just trying to prepare herself for the worst, but I don't buy it.

So why do I feel this way? I wish I knew.

Maybe it's because my dad left us when I was young, so I expect to be abandoned. Maybe it's because I lost so many family members and attended countless funerals before I was even a teenager, that I expect everyone I love to die.  Maybe I am slowing losing my mind. I don't know why I think the worst, but I do, and it sucks.

In the weeks before I got married, every time my husband left the house without me I prayed that he would make it home alive to me.  I had a completely irrational fear that the love of my life was going to die before I could marry him. I still worry about him when we're not together, but not as much as I worry about Lily.

I just wish it would stop. I wish I could get the image of her lifeless body out of my head. I hate that I feel this way because she deserves better. She is such a fighter and I KNOW she is a fighter, but I can't shake this feeling. I don't know how to stop, and I really wish I could because she deserves better.

My husband deserves better. I deserve better.

Okay, so that's not exactly what Dr. Smarty Pants Genetics Specialist said (obviously), but apparently the genetics department at Brigham & Women's will be holding a meeting to go over the results of my MRI & MRA (MRI with dye) as there was something not quite right about the results.

I've never been "quite right."

Being not quite right gets tiring and all I'd wanted to know is why the feck I was getting these horrendous migraines.

Ehlers-Danlos Syndrome can bring on hellacious soul-sucking migraines that cause light and sound sensitivity, loud ear ringing, nausea, confusion, dizziness and skull-crushing pain. Delightful!

I'm even more fun at parties!

So yeah, there's a meeting about my dome that's being held BY THE ENTIRE GENETICS DEPARTMENT.

Fabulous.

The doctor I talked to was very nice. I knew he was trying to dumb it down while trying not to send me into a panic. He summed it up as a "possible genetic defect with the vascular structure in my brain." The doctors weren't sure, hence the meeting. On the upside, I learned that I don't have Chiari Malformation, which can be BFF's with Ehlers-Danlos Syndrome.

Chiari Malformation, in layman's terms, is kinda like when the bottom part of your brain slides into the top of your spinal column. Since Ehlers-Danlos Syndrome comes with funked up collagen, our skulls already aren't properly supported, hence the sliding of your brain. At least, that's how I interpreted it.

I've been ruminating over this revelation for a while - always afraid of over-sharing - tuning out others with "what's wrong with me this week." I'm guilty of it, I know, but I can only take so much of family member dissertations about what's wrong with their [insert embarrassing ailment] before my eyes glaze over. I nod, pretending to paying attention.

My life does not revolve around Ehlers-Danlos. Unfortunately, it is a part of my life - a part of who I am - but I do not let it define me. EDS is a rare inherited disease, which is very frustrating because a lot of doctors are not properly educated about it - hence why I see specialists.

However, the Ehlers-Danlos Syndrome diagnosis does provide a piece to my personal medical history puzzle. It's a frustrating disease because there is no "one size fits all." EDS does not have standard treatment like insulin for a diabetic - you cannot fix a defective gene. Treatment is given on an as-needed basis - physical therapy as needed, pain medication as needed, braces as needed - but no clear treatment plan. There is no 'all better' for me. I wake up and go to sleep in a constant state of pain. The trick to living in constant pain is to adjust daily routines and expectations to be within reasonable limits.

I'm not looking for sympathy or anything. Sure, I've gone through things I wouldn't wish on my worst enemy, but that's the hand I was dealt. I take one day at a time and the good with the bad.

My kids are my motivators. I put on a brave face because Mommies aren't supposed to hurt - Mommies are the strongest, bravest people on earth. Mommies don't say "I can't" even when laying on the floor to play Candy Land makes your body feel like it's broken, or knowing that lifting your child out of the swing can cause your shoulders to "snap crackle & pop" right out of the socket ... no, Mommies aren't meant to hurt.

Hopefully, the more that people read, write and study, not only EDS, but anything that challenges us, collectively, we'll get out of the damn box already. I don't like to be confined (or defined, for that matter) and neither should you.

When you are faced with tough situations, you must be your own advocate. You cannot depend on other people to be your advocate, because if you are not willing to fight for yourself, how can you expect anyone else to?

It has been eight years since my relationship with Chiari ended.  I’m not a victim of this condition – I’m married to someone who is – or was.  I’m still not entirely sure that this condition is ever cured.  Maybe my relationship with Chiari will never be over, but I count my family among the lucky ones.  Chiari – or what I can’t help but think are its aftershocks – only comes knocking every three or four years for us.

First, let me tell you that I am not a doctor.  I am not married to one.  I don’t have any doctors in my family.  I am the wife of a man with this unique condition; a condition that chose to manifest itself when I was eight months pregnant with twins and had a 2-year old running around.

I woke up one night to hear my husband moaning and throwing up.  A migraine, I thought, which my husband had on occasion.  These episodes would wipe him out for a couple of days and then life would return to normal.  This time, it didn’t.

The head pain persisted - pain that could not withstand light, sound, smell, movement.  I hoisted myself behind the wheel of our minivan, my feet barely touching the pedals given my expanding girth, and drove him to the family doctor. Over a two-week period, we tried every migraine medication known to man.  None of them worked.

Per the doctor's orders, we made multiple trips to the Emergency Room for various neurological tests. He had lumbar punctures, CT scans, and most effective of all, serious pain relief in the form of percocet and morphine. Not one of the neurologists, not one of those tests, revealed anything.

If there was a hero in this story, it was my husband’s family doctor.  As the head pain began to change from unbearable to constant, other symptoms emerged – tingling in the finger tips, loss of balance, seeing spots – our hero persisted.  We are fortunate to have found a doctor who believed that what my husband was feeling was real.

Enter the twins.

Thankfully, I have lots of family.  My husband stayed with his father and sisters (he was still unable to drive).  My sisters stayed with me.  The day after the delivery, my sister-in-law brought my husband to the hospital. He couldn't put a sentence together that made sense.  Jumbled words with no connections came from his mouth.  You could see the frustration and pain in his face.  My nurse witnessed this and sent him down to the Emergency Department again. Once again, no diagnosis. 

My husband regained his ability to speak and the days passed.  I came home with my twins, recovering from a c-section, my two-year old and my undiagnosed and very ill husband.  We were becoming very discouraged - so many doctors, so many specialists and still, no idea why this was happening.

Our family doctor, had not given up.  He scheduled an appointment for my husband with yet another neurologist when the twins were about a week old.  My husband still felt ill but was off the percocet and could drive.  He didn't see the point going to see yet another neurologist.  I told him to go – what could he lose, really?

And that’s when it happened.  We saw a neurologist who saw something everyone else missed and who ordered an immediate MRI (my husband thought he was dying to get an MRI within the hour) and the diagnosis was made – Chiari Malformation.

Within two weeks, he had surgery, his drooping brain tissue held in place by dead man’s dura.  He came home three days after brain surgery with staples up the back of his neck (we called it the zipper) and recovered for the next two months.

It has been almost eight years since his surgery.

He has had two migraines in those eight years. Both times we went to see his family doctor.  Both times he sent us to the Emergency Room since my husband needed pain relief that no migraine drug could deliver – the morphine drip.

The first time he experienced a migraine since his surgery, my husband complained of tingling in his fingertips.  He had another MRI but there was no evidence of the problem recurring, no building scar tissue to impede the flow of the spinal cord fluid.  He was admitted for the weekend and weaned off morphine after three days.  Life returned to normal...

Until it happened again last year.  This time, one afternoon on the morphine drip was all it took to get him past the pain and on the road to recovery.

Until it happens again.  And that is the hardest part - the part I don’t like to think much about - will this come back?  Will he have to go through that pain again or is it more a question of when?  Is a person ever cured or is Chiari like a volcano that remains dormant for years and then suddenly erupts, spouting fury and destruction?

In the midst of this worry, I remind myself how blessed we were - blessed to have received diagnosis and treatment in a relatively short period (compared to other people’s experiences).  We are blessed to have a family doctor that stuck with us and continues to work with us when the pain comes.  We are blessed to have had so many pain-free days; so many days where we do not think about Chiari.

And I am thankful.

I had an appointment with a new neurologist this week. A neurologist who, by all accounts, is pretty good at what he does. But there's this thing that happens at each new neurologist's office when you come in with the scars of surgery from Chiari Malformation.

The doubt.

There is a pretty good percentage of neurologist who think that Chiari isn't significant. They think that it is almost exclusively an incidental finding that just happens to show up on MRIs of people with crushing headaches. It's like they hear hoofbeats, see a horse and go, eh, I think that's just a coincidence.

So when I told the neurologist my past medical history, before I got past the part about being diagnosed with Chiari, he looked and me and said, "now, was this a real Chiari?"

No, you're right. It was really a series of unicorns and rainbows that made it look like my brain had squirted out into my neck, thereby compressing a lot of really important stuff. How silly of us to not realize. I wonder how the 3 neurologists I saw before surgery and the 3 neurosurgeons I got second and third opinions from missed the fakeness of my condition. I mean, really.

It makes me angry. It comes across as a doctor asking you if you had brain surgery for fun. It comes across as an accusation of faking it. And it makes me livid. The last neurologist I saw did the same thing. As did the one before that. And until they look at my early MRIs showing the severity of my Chiari and how it messed with my brain and spinal cord, they treat me as though I made this up, as though I wanted this life, that surgery, this year of endless headaches.

In the end they all let it go, or change their mind and move on with the exam and eventually treatment. But I feel like I spend the first 20 minutes of each exam justifying the scar on my neck, justifying the choice to have this condition treated.

I have a lot of faith in doctors. I'm married to one, and I am entering into a career in the health field myself. But I am tired of being condescended to. I'm tired of doctors acting as though I am ignorant of my condition because I'm not a neurologist. As though I didn't do the research, didn't ask for multiple opinions, didn't play the wait and see game until I was so miserable, so uncoordinated, so incapacitated that I couldn't function. I'm tired of the air of doubt in my symptoms.

If I had a tumor, they wouldn't ask if it was a "real tumor." If I had MS they wouldn't ask if those were "real lesions." But somehow, because my condition isn't well known, isn't well researched (or frankly, researched at all), there is a constant doubt to my story, to my history, to my pain.

And it makes me doubt myself. And I hate that even more.

If you saw me walking down the street, you would never know that there was anything wrong with me.

If you saw me walking down the street, you wouldn't see the 8 inch scar up the back of my neck and head. You wouldn't know that through that 8 inch scar I had bones removed, I had parts of my brain touched and adjusted. That I had a piece of a cow heart sewn into the lining of my brain.

If you saw me walking down the street, you wouldn't know that the area around that 8 inch scar is in constant pain. You wouldn't know that behind the smile is someone who wants to cry all the time. Who wants to lie in bed and wallow in pity for the pain that they're carrying. You wouldn't realize that when I tip my head side to side that I'm desperately looking for any movement, and little change that will reduce the pain I have. That even though I haven't said anything to you, I am suffering badly.

If you saw me walking down the street, you wouldn't realize that my left hand doesn't work well. You wouldn't notice that when I carry a bag of groceries in my left hand that my pinky finger never even gets looped in the bag handle. Or that even though my ring finger might be looped, you could pull it out with the greatest of ease. It's a dummy finger. It's there for appearances, and that's it.

If you saw me walking down the street, you wouldn't know that I have very little strength in my arms or my legs because last year I had to spend more than 2 weeks laying completely flat on a couch because spinal fluid kept pouring out into my back. And that just 2 weeks of strict bedrest can result in a strength deficit that can take a year to regain under the best of conditions. You wouldn't realize that if I was given a 15 pound dumbbell that I would only be able to do one bicep curl before having to quit. You wouldn't realize that I am weaker than your 6 year old child.

If you saw me walking down the street, you wouldn't know that my balance is very poor. You wouldn't know that neon lights confuse my vision so much that I nearly fall over. You wouldn't know that I can't touch my finger to my nose when sober about half the time. You wouldn't know that laying down at night makes me feel like my feet are going to flip over my head.

If you saw me walking down the street, you'd never know. My battles are quiet, my scars are hidden. But they are real. Just because you can't see them doesn't mean they don't hurt, that I don't struggle every single day. Just because I'm up and about doesn't mean I'm not in pain, doesn't mean that I'm faking my symptoms or exaggerating them. Just because I go on vacations and make it to my morning class most of the time doesn't mean I am healthy or capable of doing everything you can.

If you saw me walking down the street you'd never know that I have permanent disabilities. That I have to fight to get the help I need because I look fine. You'd never know how much it adds to the hurt and frustration when people say that I look fine, or say that it can't hurt that bad because I'm up doing x, y and z.

If you saw me walking down the street, you'd still have never walked a block in my shoes. You'd never have walked a block in my pain, in my dizziness, in my weakness, in my fears. You'd have just seen a girl who looks like you. A girl who wishes that her insides matched her outsides. A girl who would give the world to be what you think she is.