Causes: Rare Disease Day, Chiari Malformation and Syringomyelia.

One more Causes series post in honor of Rare Disease Day.  I know Rare Disease Day was yesterday, but real life happens and, well, this post is going up today. :) I've known Stacy for many years and didn't know many of the details about her condition or the surgery at the time, so I was glad (and blown away!) to read this myself and I'm grateful for the opportunity to share, too.

Too Much Brain to Contain!

Living with Arnold Chiari Malformation and Syringomyelia

             Disclaimer: This blog post got a little out of hand! I have never written down my experience before, so I got a little carried away while remembering all of the events and emotions!

Photo credit: Joe Kenow



 

Growing up, I was a perfectly normal, healthy kid. In March of 2007, at the age of 23, I got married and we had our first child in June of 2008. I attempted to do a vaginal delivery, but because she was so big, we had to do a cesarean section. When she was 6 months old, we found out we were pregnant with our second child, who was born September 2009, also via c-section. In December of that year, I became nauseous all the time….so naturally, I thought I was pregnant again and took a whole bunch of pregnancy tests, all of which were negative. After having a pregnancy “scare”, we decided that we wanted to wait awhile to get pregnant again, so I got an IUD.

The nausea never went away, and other things started happening as well, including horrible headaches that came on suddenly, like when I would cough, sneeze, or just turn my head the wrong way. The headaches were nothing like I had ever experienced before. The pain would start at the base of my head and radiate up through my head onto my forehead, just above my eye. I would also get blurred vision, but just in the eye that the pain was above. At first, I didn’t know what to make of all this pain. Maybe it was from sleep deprivation? (I did have an 18-month-old and a colicky 3-month-old.) But after talking with several people, there seemed to be the consensus that I was having migraines. I then made an appointment with my family doctor. She told me it sounded like I was indeed having oracle migraines (migraines that affect your vision), so she prescribed me some pills. Needless to say, those pills didn’t work, so she decided to take a different approach. She then suggested that I keep a “headache journal.” I was to write down pretty much my whole day: how much sleep I was getting, everything I was eating, how much exercise I was getting, and every time a headache would start and stop. The purpose of the journal was to find my headache triggers and to see how often I was getting these headaches. It didn’t take very long before I gave up on the whole journal idea because I was having these headaches daily and there didn’t seem to be a common trigger. My doctor seemed stumped, so she just prescribed me a different pill to take and told me “we’re going to go through and try all of the different medications first before I have you get an MRI because the chances of it being anything that an MRI would detect are very slim.” Well, I immediately decided I wanted to get a second opinion so I made an appointment with a different family doctor.

Oh wow! After being in the exam room with this new doctor for only a few minutes, I felt like I may finally get some answers! She actually seemed to be listening to me! After telling her all of my symptoms, she told me “well those don’t sound like migraines at all, so I am not even going to mess around with medication. The first thing I am going to do is to order you an MRI for tomorrow. The chances of it being found on there are very slim, but at least we can start ruling some stuff out.”

The next day, I went in and had an MRI done of my brain. Oh am I ever glad that my new doctor talked me into prescription Xanax for this scan! If you are even the least bit claustrophobic, this is not a good time! I had had an MRI before, but it was of my abdomen when I was 7 months pregnant with our first child because of a possible appendicitis, but that was a piece of cake compared to this. It is completely different when you have it done on your brain. Your head gets immobilized inside of a “helmet/mask” that completely encloses your entire head! I was visibly distraught about the situation, so the technician was very helpful and offered to cover my eyes with a towel and comfort me by continuously reminding me to not open my eyes. I couldn’t take it anymore, so when the hour long scan was only minutes away from being complete, I did peak open my eyes and started freaking out! “You opened your eyes, didn’t you?” “Yes I did! Get me out of here!” I can laugh about it now, but it wasn’t funny at the time! After the MRI was done, the technician told me my doctor would follow up with me when they got the results; could take up to a couple days. So was I ever surprised when I got a call from my doctor only a few hours later!       

                I received the phone call on April 28, 2010. Even though it was almost 4 years ago, I still remember the conversation as though it just happened. It went as follows:

“We got the results back from your MRI. I want you to get a pen and write this down. Arnold Chiari Malformation Type 1. I am not going to explain to you what it is because as soon as we get off the phone, you are going to google it anyway. I am referring you to a neurosurgeon in Rochester. They will be calling you soon to set up an appointment. If you have any questions, please don’t hesitate to call me.”

                I immediately got on the computer and got as much information as I could, but it just left me with even more questions. How big was my herniation? Would I need surgery? Am I going to die? I have two little kids who need me; I don’t have time for this!

                Now, after having researched this disorder for several years, I feel like a walking encyclopedia on the topic. In a nutshell, the back of my skull is too small or too misshaped to hold the back part of my brain, the cerebellum. So, my cerebellar tonsils protrude out of my skull and down into my spinal canal. This is bad for several reasons. First, your entire brain is supposed to be inside of your skull so it can be completely protected. Second, it is causing the flow of CSF (spinal fluid) to be disrupted and potentially fully blocked, which would eventually leave me paralyzed. Since the disorder is very rare, there is very little conclusive research and studies done on it. First of all, it is still unknown as to whether Chiari is congenital (you are born with it) or if it is acquired (e.g. car accident, or some studies say during pregnancy). Second, some people may have a 0 cm herniation and show a lot of severe symptoms, while others may have a 20 cm herniation and show very little mild symptoms.

                So I had my first appointment at the Mayo clinic 2 weeks later (felt like the longest 2 weeks of my life!) with my neurologist and my neurosurgeon. First, my neurologist did a basic neurological work-up on me, reviewed my MRI results, and answered all of my questions (I brought a notebook full of them). Then, I met with my neurosurgeon and his nurse (who I would have to say is a God send; I called and talked to her almost daily from the time of my diagnosis until after my surgeries). He went over the pros and cons of having surgery and what it would all entail. Oh and I almost forgot, my family doctor forgot to mention to me that the MRI results showed that I also had Syringomyelia (which is a syrinx, or fluid filled pocket, in my spinal canal), but I found out while talking with my Neurosurgeon’s nurse. This is how it was broken down to me: Chiari is a progressive disorder. My herniation may stay the same, or it may get longer, but it will NOT retrieve on its own without some sort of intervention (meaning sugery). Also, there is no way of knowing how fast it will progress, especially since my symptoms all just “appeared.” Was I born with this condition and the pregnancies just brought on the symptoms or increased the herniation? I could stay this way forever, or I could be paralyzed in two weeks. The same is to be said about my syrinx. It will not get better without intervention. If I only had the syrinx without having Chiari as well, I could just get a shunt put in to drain it. But since I also had Chiari, if I didn’t “fix” that, the syrinx would come right back. The size of my syrinx was one of the larger ones my doctors had ever seen and they were both surprised that I could still even walk because it was so wide that it almost completely blocked my CSF flow. The best way that having Syringomyelia and Chiari both was ever described to me was: it’s like taking a garden hose and putting your hand over the opening to stop the water from flowing out. Eventually the sides are going to expand to compensate for all the extra built up pressure. This is what was happening inside of my spinal canal.

                 Choosing whether or not to have surgery and where/when to have it done was one of the more difficult decisions I have had in life. The surgery was going to consist of a craniectomy (using a high-powered saw to cut out a section of my skull), duraplasty (removing the outer layer of my brain), and a laminectomy (shaving off a part of one of my vertebra).  Also, I would have to decide if I wanted to use a bovine patch (patch of cow skin), or have a fasciotomy (use my own “skin” material that would be harvested from my thigh) to replace the dura they were removing. Sound scary and painful? I was freaking out! But my team of doctors reassured me that this was indeed a major surgery, but as far as brain surgeries go, it would be a fairly simple one. Such difficult decisions and oh man did I already have a headache! (haha a little Chiari humor) So I knew I would definitely have to have the surgeries, but then what patch would I want? My neurosurgeon gave me pros and cons for both. Bovine patch is extremely similar to using your own material, it is painless for you, and the risk of infection or CSF leak is less than 1% each. Using my own material would be extremely painful on my thigh and leave me with a huge scar, but it would be really “flexible” material and there is even less risk for infection or CSF leak. Which one would you choose? I went with a bovine patch. Next, where should I have the surgery at? Should I do it at the Mayo Clinic? It is less than an hour away from home and they are one of the top Hospitals in the world. My team of doctors said they do about one Chiari surgery a month, so they are pretty well experienced in it, but obviously not as much as the clinics that specialize in Chiari. So that leads me to the other options. There are a few Chiari Institutes in the United States; Wisconsin, Colorado, and New Jersey. Should I visit one of them, or should I just utilize the amazing Mayo Clinic that is practically at my back door? The major factor that helped me make this decision was the fact that I had two small children (an almost 2 year old and a 9 month old) and it would just be easier for everyone if I stayed closer to home.

                Mayo Clinic called me the next day to set up my surgery. They told me they happened to have an opening and could get me in the next week, June 10^th, which was my daughter’s 2^nd birthday. Even though I know they were trying to accommodate me, I told them that date wouldn’t work for me…mostly because I was scared to death about the surgery, I honestly felt like I didn’t know if I would make it through the surgery or what my life would be like afterwards, so I wanted to enjoy one last birthday with my little girl. The next availability was June 21^st, so I took that one.

                My anxiety level leading up to surgery day was through the roof! I was so nervous about the actual surgery….I can still hear my neurosurgeon’s voice saying “we just take a really high powered saw to cut open your skull…” And then there was recovery time. I was to plan on being in the hospital for a few days and then pretty much on bed rest for a few weeks following that and then back to normal activity in a little over a month. That all sounds fine and dandy, but what about my kids?! Up until this point, I could count on one hand how many times I was without them overnight! Luckily, my father-in-law was able to take off work and the kids would be able to stay with him and my mother-in-law while all of this was going on. But that was just the logistics of it. What if something went wrong during the surgery? What if I never woke up? What if the surgery wasn’t successful and I became paralyzed anyway? I just had to keep telling myself that I was taking more of a risk by not having the surgery that I was by having it.

                Surgery day finally came and much of this time in my life is a big blur. I don’t remember a lot of it because of all the pain medication I was on and because of all the complications. I remember going to the hospital really early in the morning and laying on a gurney in the pre-op room with about a dozen other people all waiting for various surgeries. This part sucked because I was with a bunch of people I didn’t know and I had already said my goodbyes to my family, so I felt like I was left all alone with my thoughts for which felt like an eternity, but was probably only about an hour. I then remember getting wheeled back to the operating room….my next memory is of waking up in the ICU in the worst pain of my entire life! I don’t really remember much from that day or the couple days following it. I was told by my best friend, who sat by my bed for hours on end, that when I woke up I couldn’t speak, I couldn’t open my eyes, even hearing the sound of other people’s voices was painful for me, so the nurses wouldn’t turn on any of the lights or let anyone even talk in my room. I do remember that the pain inside my head was unbearable for the whole week I was in the hospital (yes, a couple days turned into one week, and the only reason they sent me home was because they said my insurance would only cover one week). Do you know the burning feeling you get in your nose when you are swimming and you get water up it? Well, that is what it felt like constantly inside my head! My doctor told me that a little CSF (very acidic) must have come out during the surgery so I would need to stay in an inclined position (sleep sitting up) to allow it to drain out of my head. Well that helped a little with the burning pain, but I still wasn’t able see straight, I was having double and blurred vision. It was so bad that I never even once turned the tv on in my room that entire week. I also was having a lot of trouble walking. For the first couple days that I was allowed to try to walk, I had to use a walker and my husband would walk a lap with me around the floor, if I even made it that far. Needless to say, even with all of the drugs they were giving me, I was still in excruciating pain! I had a CT Scan done, but it didn’t show anything else was wrong, so the doctors sent me home saying they had never seen anyone in this much pain before but they didn’t know what was wrong with me and insurance would only allow me to stay for one week following the surgery. In a nutshell, I felt like they were just telling me I needed to suck it up!

The day after surgery

Day two

Day two

A couple days after surgery

About a week after surgery

                After leaving the hospital, instead of going home to be with my husband and children, I went to stay with my in-laws while they stayed at home. This was because I was in so much pain that it was not a good idea for me to be around two little kids. However they would come over for very short time periods to visit me (that was always the highlight of my day and the only thing that kept me going.) Again, I don’t really remember much about this time frame because I was in so much pain and on so many medications. I do remember a couple days after I got there that I was throwing up so much that I ended up going into the emergency room in my hometown and the doctor that was attending to me didn’t even know what Arnold Chiari was! He kept calling it Budd Chiari. When I would correct him, he insisted to me that they were the same thing.  (I didn’t know what Budd Chiari was until about a month later when I googled it and found out that is a condition that affects your abdomen…completely different part of the body!) They just pumped me full of fluids and sent me home. A couple days after that, I was in even more pain (I didn’t think that was even possible) where my head, neck and shoulders all felt like they were in a vice grip. We didn’t even bother going to the local hospital, we just went straight over to emergency room in Rochester. There they did some tests, put fluids in me and sent me home because they couldn’t find anything wrong with me. And they also told my husband (when he wasn’t by me) that I just had brain surgery and I was going to be in some pain, but there wasn’t anything they could find wrong with me and I needed to just deal with it. Needless to say, he was not pleased by this! He could see that his wife was in horrific pain and there definitely was something wrong and it just seemed like no one cared! Another day or two went by and I remember this next part very vividly. I was sitting outside on the back porch on a lawn chair. It was one of my first times being outside in a couple weeks. As I was sitting there, I felt a wet drop on the back of my neck. I turned to my husband (well not so much “turned” because I still couldn’t move my neck more than about an inch without screaming out in pain) and asked him if it had rained earlier because I think I just felt a drop of water fall off the edge of the roof and onto the back of my neck. He said it hadn’t. But then I felt it again. So I then felt the back of my neck with my hand and realized the back of my shirt was soaking wet around the collar. We immediately went inside and I sat at the kitchen table while he got a towel. We couldn’t figure out how I got all wet. The best thing I could come up with was that I had gotten some water in my incision while taking a shower and it was now coming out. Well that didn’t make a whole lot of sense because my incision was pretty well closed up by now and I didn’t really get it wet in the shower anyway, even though the doctor told me it was perfectly safe to do so. Well, over to Rochester we went again! This time, I brought a bath towel along on the ride and it was completely soaked by the time we got there. Once we were seen by a doctor in the emergency room, it didn’t take him long to figure out what was wrong with me! I knew right away that when he asked me when the last time I ate was, that I was not going to like the outcome. “Well, I am just waiting to see if we can get a surgical team in here yet tonight or if we are going to have to wait until tomorrow for the surgery.” This was on Friday night, July 2^nd….not the most ideal time to try and get a neurosurgeon team called in for an emergency surgery!! Yes that is right, I was going to be having emergency brain surgery! That “stuff” that was making the back of my head wet…CSF…spinal fluid was actually coming out of my body! That isn’t supposed to happen! Normally when someone has a CSF leak, it leaks within their body, not all the way to the outside!! They were able to get a team together and I was wheeled back for surgery within about an hour, literally giving my parents just enough make the drive over and walk in my room and say goodbye to me as I was getting wheeled out. This time, I remember a little bit more of the operating room…I had had so many IV’s put in recently and was somewhat dehydrated that they had a very difficult time getting the bigger needle placed correctly. They tried both arms and wrists with no luck. Then there were about to try and stick the needle in my foot/ankle! What! You are going to put What Where?!?!? I started thrashing around so they couldn’t poke me down there…and then all I remember is hearing a voice say “we will just stick it in her jugular once she falls asleep”...and that is all I remember.

                I woke up in the ICU in a lot less pain than I was in previously. What? Just woke up from an emergency brain surgery and I feel better?! That’s right! I was still in pain, but not nearly as much as before. I knew that something was terribly wrong with me and I wasn’t just imagining it! The next day, the surgeon explained to me what was going on. I did indeed have a CSF leak and the bovine patch had caused an infection, so they removed the bovine and did a fasciotomy (made a long cut in my thigh to harvest a patch of the silvery matter that sits right above the muscle) to use to cover up my brain. He didn’t know what the infection was, but they would be running tests to figure it out and get me on the right antibiotics.  The next day was the 4^th of July. It was a bittersweet day for me. On one hand, I was so happy to be alive and be on the road to recovery, but at the same time, I was so sad to be sitting in the hospital without my family. This is when my emotional breakdown began. Anyone that has spent any amount of time in the hospital can probably agree with me that it takes an emotional toll on you as well as physically. I remember sitting in one of the visiting rooms that night in my wheelchair (I couldn’t put any weight on my leg yet, so I was in a wheelchair for a few days), with a bunch of fellow patients and their families. I was on the neurological floor in the hospital, so there were a wide variety of people there with varying levels of problems. Most of the people were from different parts of the country that had traveled specifically to this hospital to receive treatment. This made me feel better about doing my surgeries here. But what I remember most is how warm and welcoming those other families were to me. They saw that I was all by myself because my husband had to leave to be home with our kids. But those families took me in as part of their own to watch the fireworks with them and even wheeled me back to my room when it was all done. As I’m sitting here writing this right now I am crying just remembering how good those people made me feel at a time when I needed it the most and the funny thing is that they will never know how much they meant to me.

                The next few days are all a big blur to me because I was severely sleep deprived and was hitting rock bottom emotionally. I am not a very spiritual person, but I found myself starting to talk to God. First I was questioning “why me? What did I do to deserve this?” Then I was asking him to just take me. Take me away from all of this pain and suffering. I couldn’t take it anymore. I was hooked up to an iv and being pumped with antibiotics about 23 hours a day. They still hadn’t figured out what exactly the infections were (yes 5 different infections to be exact), so they were giving me the most potent stuff they could to kill it all off. The medication they were giving me wasn’t even allowed to be in the sunlight, yet I was supposed to be pumping it in my body?! I remember every time there would be a new nurse and they would have to change out my empty iv bags and put the new ones up, they would just gawk at them and say they had heard of these drugs before, but they had never actually seen anyone use them. My veins kept collapsing from the constant flow of stuff going in them, so my iv had to be restarted many times and I kept getting poked for blood draws every couple of hours, which is why I was so exhausted. Finally they decided to start a PICC line, which was not fun to say the least. It was at about this point that my outlook on everything changed. I decided it wasn’t fair for God to take me. I had two children who needed me! It would be extremely selfish of me to leave them without a mother. No matter what would happen to me, I needed to make sure m y children were taken care of. I decided from that point on that I needed to fight a little bit harder.

A couple days after surgery #2

My leg a few days after surgery #2, where they harvested skin

                I was in the hospital for a week before being sent home, but this time was a little different. I was being sent home with my PICC line still in because I would need to take iv meds for another month to kill off the infections. I now had two options; go to a nursing home for a month, or get an in-home nurse….I chose the latter! I again went back to my in-laws house and between them, my mom, my aunt, my grandparents, and my husband, there was someone with me 24 hours a day. I was extremely ill at this point. I had lost so much weight that I was the size I was in Junior High. I did venture out of the house after a couple weeks, and went downtown to the local arts festival. While there, I saw a couple people I knew and the looks on their faces when the realized who I was made me not want to leave my house for a very long time. I didn’t even look like me anymore. My head was half shaved and I was literally just skin and bones, plus I had an iv hanging out of my arm. It was then that I was an emotional wreck again. I just wanted to go home…to my home…with my kids.

 



 

My husband started bringing me home for short visits, which started lifting my spirits. I remember sitting in our backyard on one of those visits, and the neighbor across the street walked over and had a conversation with me. He had had heart surgery the year before and it was like he could just read my mind before I even said anything about my talks with God and my emotional roller coaster. He doesn’t know this, but he really lifted my spirits that day. I was so glad to hear that I wasn’t the only one that had had these thoughts and feelings. Going through major surgeries and hospital stays does indeed take an emotional toll on a lot of people and they start to question everything in life. If I didn’t have my children, would I have fought so hard to get better? I hope the answer is yes. But it’s not like I physically “fought” but emotionally and mentally I did. It is really hard to explain to someone who hasn’t personally been through it. But I now understand in movies when someone is dying and their loved one is telling them to fight a little longer or to just let go…I get that now.

                Turns out, the major infection that I had was bacterial meningitis and it was floating around in my CSF and brain. A lot of people die from it or at least have lingering complications. A couple months later, at one of my follow-up MRI’s, I found out what my complication was. I now had acquired Hydrocephalus, which is where the ventricles in your brain (the chambers that hold your CSF) are enlarged and are pushing your brain outward toward your skull. All of the damage and brain cells it was killing off was irreversible. I would need to take measures to get this new issue resolved. The most common thing to do would be to surgically place a shunt from my ventricles into my stomach, so the excess fluid could drain out. My neurologist would normally recommend this surgery, but since I had had a history of my body rejecting foreign objects, he did not want to subject me to that unless absolutely necessary. So instead I had a lumbar puncture (a nice way of saying a spinal tap) to relieve some of the pressure in my brain. Again, this procedure is not one that I would recommend if you are looking to have a good time! The procedure itself wasn’t too bad, but the next couple of days were terrible! After another follow-up MRI to check on the hydrocephalus, it appeared as though the lumbar puncture had worked and my ventricles had gone back down to normal size.

 

 

                In the beginning of November, I ended up having another surgery, this time to correct the area where I had the fasciotomy. My thigh muscle herniated out of the space where they harvested skin, so the surgeon had to go back in and reclose the space. Sometimes when originally closing it up, they would use a synthetic patch to cover the area, but since my body seemed to reject foreign objects (ie the bovine patch), they decided not to use anything and allow for the body to sort of heal itself, which has always worked for the surgeon before. Well, obviously the surgeon didn’t know my history with luck and odds, because this was the first time this corrective surgery has ever been done at Mayo (at least to the knowledge of the two surgeons who performed it, and they needed two there because neither one had done anything like it before and they were unsure of what they would encounter when they opened me up). One of them even asked if he could use my story to write up an article in a medical journal! After this surgery, I was in the hospital again for a couple days.  I also had to start physical therapy to retrain myself how to walk. But I got to use a cool shiny pink cane to walk around with for a couple months (always try to look at the positives, right)!

                There are still many side effects from the surgery and there are things that I have had to change in my daily life that I can no longer do. I still have almost daily headaches, but now they range in severity and aren’t always migraine-like. I can no longer do activities that involve any bouncing or jumping because it “rattles” my brain too much and I get an instant headache and nausea. It is now extremely uncomfortable for me to get my hair washed in the sink at the salon, but I have done it a couple times because it just feels so good (and I ask the stylist to put down a few extra towels for padding on the back of my neck). And one thing my neurologist told me- “don’t get poked with an ice pick in the base of your head because you don’t have any skull there to protect your brain!” I think he was trying to make a joke and make light of the situation…it worked!

 

                One of the most recent hurdles I have had to face was whether or not it would be safe to be pregnant again. After many appointments with my OBGYN, neurologist, and perinatologist, I got the green light to try and get pregnant, but I would just be closely monitored and would have to have a c-section (which I would do anyway since my first two were born that way.) At this point I had already gotten the IUD taken out because it was a foreign object and could be adding to my headaches.

Professional photos by Joe Kenow

 

We got pregnant almost right away and now have a beautiful and healthy baby girl! This last pregnancy was a little tougher than the first two because I was having a lot of bad headaches and decided not to take any medication for them because nothing was 100% safe for the baby. In fact, I’m still not taking anything because I am currently nursing. Personally, I feel like I can suffer through the pain if it will mean my baby stays safe. I know a lot of people don’t feel the same way as I do, they would have taken meds during the pregnancy and would not be nursing so they could take meds now, but this is just my personal preference.



                So what did you choose for the initial surgery—bovine patch or fasciotomy? Hindsight is 20/20. But seriously, less than 1% chance for infection and less than 1% chance for CSF leak and I get both?! What are the odds?!

 

Chiari Malformation Mayo Clinic link

Syringomyelia Mayo Clinic link

Hydrocephalus Mayo Clinic