Novosibirsk; Texas Road Trip 2016: We Escape His Diagnosis

By this point, Christopher needed a break from being poked and prodded.  He’d made good progress on the amitriptyline, but we had always intended to visit my parents’ Texas ranch in May.  He was still hopeful that the medicine, which takes 3-4 weeks to titrate into your system, would eliminate his headache.  He was also really scared of doing the cerebral angiogram if Dr. Ahn ordered it, because it would require an IV and going to sleep (I’m still amazed by the things that scare him, they’re never the things I’d guess).  So we rescheduled his appointment with Dr. Ahn for June 14 so that we could spend some time off the train.

You can’t really completely ignore these medical diagnoses, especially since we were still trying to process whether or not to go ahead with the Chiari surgery.  Once again, I was worried CYA medicine was at play with the AVM diagnosis, and I was seriously contemplating whether it was really capable of harming him or not.  Part of that is that I had pretty well followed Dr. Groves’ recommendation not to Google the condition, so I still knew very little of what it was, or what it could do.  But Dr. Bernier had asked us not to “check in” as part of his headache plan, so I tried to reign in the desire, as a scientist, to document and detail every symptom.  Christopher, for his part, spent as much time at the ranch as he could.  Getting there had been pretty rough on him, and the final day of our road trip had spawned a nasty migraine.  He tired more easily than usual, several very active days would follow several days on the couch, and he still had a very short fuse for frustration, but the scary, is-my-kid-having-a-stroke-or-seizure? headaches were all gone.  In general, though, he spent a lot of time having fun and being a kid, whether he was fishing, petting horses, playing pool, or driving the EZ-Go.  And we did manage to squeeze some touristy stuff into both road trips, visiting both Biltmore Estate and the Kentucky Horse Park on our 5600 mile journey.

Omsk; How and When Should You Fix a Chiari?

By the time we had our follow-up appointment with Dr. Moores, our first neurosurgeon, Christopher was doing remarkably better.  The obvious migraines were gone, and the headache had gone from a daily 8 to a baseline of 3/4, even though it never went away.  This was enough improvement for him to begin doing math and grammar studies again.  We told Dr. Moores what all we’d done at the behest of Johns Hopkins and the information we’d learned since we’d last seen him.  

We also told Dr. Moores we'd sought out a second opinion because we'd been advised by a dear friend who's a pediatric ER doc that Chiari I Malformations are over-diagnosed.  He said he agrees.  In his opinion, there are a whole lot of people in the world with headaches, represented by the red circle.  There are slightly less than 1 in 1000 people with a Chiari I Malformation.  But most of those people are asymptomatic, and only discover they have a Chiari I because a scan of the brain/neck is done for a completely unrelated reason.  So the percentage of people whose Chiari defects actually cause headaches is represented by the overlap of those two circles.

Figure 1--My interpretation of Dr. Moores' Venn Diagram describing the relationship between Chiari and Headache.

The obvious question, which of course we asked, was what category does Christopher fall into?  He feels that the back of Christopher's skull cuts in to the base of his brain so as to inhibit his posterior cerebrospinal fluid flow such that he has zero functional flow as soon as he stands up.  But wait.  Christopher's a kid.  And kids grow.  Can't this all just be a problem where his current brain size is out of sync with his skull size and, if we're patient, he'll grow until they're back in phase again?  After all, when I look at my 12 year old's photos, it was at about age 9 that his face really started changing shape.  Unfortunately, all that skull change is confined to the front of the head.  The back of the head, and particularly the posterior fossa, don't change much after age 4.  The brain itself also reaches 99% of its final size by age 4, even though the connections it forms continue developing in some parts well into the 20s.  Dr. Groves had answered this question in exactly the same way.

Image 1--In this study, it's fairly obvious that there's a nice bright white line of CSF flowing around the top of Christopher's brain, and along the front of his brainstem.  Down the back of his brainstem?  Not so much.  Behind his cerebellum?  Eek.


So.  In Dr. Moores' estimation, Christopher will never be headache free without surgery to decompress the base of his brain.  He wasn't as worried as Dr. Groves about operating without eliminating the other causes of headache.  But he also feels it’s non-emergent right now because there's no syrinx or obvious optic nerve compression.  Scott, who hadn’t yet met Dr. Moores, agreed that his bedside manner is impeccable and his explanations, rooted in physics, just.make.sense.

Both neurosurgeons were in complete agreement as to what they would do to fix it:  A Chiari decompression via craniectomy of the foramen magnum, laminectomy of C1, and a duraplasty.

Figure 2--The opening of the foramen magnum is enlarged by removing small sections of bone, as well as widening the interior diameter of C1 if necessary.  They can't make the posterior fossa larger, but they can remove the pressure it exerts on the back of the brain.  Image courtesy of the Mayfield Clinic.

Figure 3--Posterior diagram showing the new skull configuration after surgery.  Duraplasty is done to enlarge the dural space and reintroduce proper CSF flow.  Image courtesy of the Mayfield Clinic.

Tyumen; We Meet the Pediatric Headache Specialist

Dr. Raquelle Bernier of the Children’s National Headache Clinic is one of my favorite physicians ever.  She has the presence and demeanor of a kindergarten teacher (i.e., everyone wants to be friends with her), but is also one of the most technically competent physicians I’ve ever met.  She made a point of double-checking Christopher’s MRI after we told her about the newly diagnosed arteriovenous malformation (AVM) and agreed that it was there and needed to be checked out.  She also agreed with the ophthalmologist that Christopher was having migraines with auras.  After taking a very thorough history, she told us that headache specialists are starting to see a pattern wherein kids with migraine diagnoses have a history of colic as infants, digestive upset (abdominal migraine), and extreme, early onset motion sickness.  They believe these aren’t separate issues, but rather, an indication that the pediatric brain is very different than the adult brain, and experiences pain much differently.  So it wasn’t that our perfectly normal child suddenly started experiencing blistering headaches at 9 years of age.  It was that he’d been symptomatic from the Chiari (and possibly the AVM) from birth, it was just at age 9 that he started experiencing those symptoms in a way that led to a brain MRI and proper diagnosis.  That, she said, was why we'd noticed the abdominal migraines (vomiting, nausea, diarrhea, stomach cramping) fading away as the more classical migraines with auras kicked in.

More importantly for Christopher, though, she put him on 10mg amitriptyline as a daily headache preventative and wrote out an extensive treatment plan that included dietary, water, exercise, and sleep components to keep the headaches at bay.  Because the AVM presents a stroke risk, NSAIDS and triptans are verboten, but occasional Tylenol is allowed.  She also asked that he stay away from rollercoasters and contact sports, I presume because he has enough issues without adding a concussion into the mix.

For more information on what the medical community now knows about Pediatric Headaches, please follow the link below.  If this had been known a decade ago, Christopher would have had a brain MRI by his first birthday.  Not only was he the colicky baby to end all colicky babies, the colic extended well beyond the normal first three months of his life.  By five months, he was diagnosed as failure to thrive because I couldn't keep milk in him.  No matter how gingerly I raised him to a vertical position after feeding, as soon as he was fully upright, he'd projectile vomit everything in his belly, and continue for hours.  As for motion sickness....I could have set a timer for him puking 20 minutes after getting in a car.  By the time he was 8 months old, the pediatrician recommended I put Baby Einsteins on loop in front of his rear-facing carseat on even a short trip to the grocery store so that I wasn't always driving distracted from the crying.  He had his own Zofran prescription for car, plane, and train rides at his second birthday because Dramamine wasn't effective.  This was the pattern that emerged from Dr. Bernier's questioning, which is corroborated by this summary from the Michigan Headache & Neurological Institute.
  
http://www.mhni.com/headache-pain-faq/pediatric-headaches

Yekaterinburg; We First Hear the Words "Arteriovenous Malformation"

If I never again have a physician call me directly to tell me they’ve found something scary in my child’s brain, I will be a very happy person.  I was driving to an advisory council meeting for our local robotics group when Dr. Groves called to tell me they’d found something in Christopher’s MRI after uploading it into the Johns Hopkins system.  She apologized for missing it (to be fair, so had Inova Fairfax Radiology, and all three physicians who’d also looked at the MRI), but there was a small arteriovenous malformation (AVM) at the top of Christopher’s brain.  She told me not to Google it, because there were all kinds of scary stories on the internet.  She also told me it would require he see a different kind of neurosurgeon, a pediatric vascular neurosurgeon, and so she was referring him to Dr. Edward Ahn, also part of the group at Johns Hopkins.  She warned me that Dr. Ahn would probably want to do a cerebral angiogram since the MRI barely shows the existence of the AVM.  I parked my car, made it through my meeting, and then fell apart.  I called my best friend, where I couldn’t even get out the words at first, and spoke to him in the dark, in the rain (it was a very Enlightenment setting), for at least 30 minutes before deciding I was safe to drive to pick up my oldest from swim team.

That night, I really wanted off the train.  I wasn’t sure how I was going to move forward with a second scary diagnosis, I’d only just wrapped my head around the fact that he might need skull-base surgery for the Chiari.  If I could have hauled us all off at the Yekaterinburg station, I would have.  But Christopher has two birth defects living inside his skull, I couldn’t very well just take him home and pretend that life was normal and I didn’t have a child with steadily progressive headaches.  So instead, I prepared myself for making every stop on the Trans-Siberian Railway, as it was now obvious we wouldn’t get to skip any stops by taking an express route.

Perm; Tracking Variables

The spinal MRI was done on a Sunday morning.  For future reference, asking a 9 year old boy to sit still for 2.5 hours first thing in the morning is a really, really bad idea.  In our defense, we were told they were scheduling 90 minutes of magnet time and could probably do it more quickly since they were doing the cervical, thoracic, and lumbar series back-to-back.  And like a total novice, I figured MRI time was expensive enough that I actually believed the scheduling receptionist.  Ha.  Future MRIs will all be done as the last appointment of the day after as active a day as he can tolerate.  It wasn’t that he was in any way rambunctious, it was just that the tiniest of movements create blurry MRI images, requiring that segment to be repeated.  It’s been 3 months and Christopher is still adamant he won’t ever do a full spine MRI again.  We did, however, discover that there are no syrinx in his spine at this time, although there's roughly 50% odds Chiari patients will develop syringomelia in their lifetime.

The eye appointment was, from my perspective, far worse, though.  His eyes had to be fully dilated so that the ophthalmologist could see as far back along the optic nerve as possible.  She didn’t find any evidence of present or past damage, although she qualified it by saying she can only see so far, and it’s possible for damage to be present posterior to what she can observe.  She felt that the visual disturbances were migraine auras, and felt confident he’d be prescribed a migraine preventative when he saw the headache specialist—but couldn’t herself as she treats eyes, not heads.  Christopher didn’t like the eye exam, but the nightmare started when he walked into bright light and had to ride home.  At one point, he asked me why he was seeing rainbows on his hands.  By the time we got home, the headache was debilitating and he spent the rest of the day curled up on the couch in the dark.  I came very close to taking him to the ER that night, as he had a couple pretty scary moments, but chose instead to see if he could sleep it off.

Come morning, he wasn’t any better and his ears were hurting badly, so off we went to the pediatrician.  She diagnosed him with an ear infection and prescribed antibiotics, but again, couldn’t do anything for the headache.

Kirov; Johns Hopkins Provides a Second Opinion

As much as I innately liked our the pediatric neurosurgeon we already had, I still had in my head my physician friends’ warning that Chiari malformations are often over diagnosed.  At the same time our pediatrician told us he thought Christopher needed to be hospitalized to get a definite diagnosis as soon as possible, he also told us we ought to go to Johns Hopkins University Hospital if the Chiari were confirmed, because Ben Carson had assembled the best team in the world for treating them.  So I made an appointment, and off we went to see Dr. Mari Groves, a pediatric spinal neurosurgeon.  Her PA for the day, Stephanie, took a very detailed history and had Christopher complete his most thorough neurological exam to date.  

Dr. Groves, however, isn’t as warm and appealing as Dr. Moores.  I’d describe her as quietly competent.  She definitely agreed that he has a Chiari I malformation, and she explained that there are several potential complications of the Chiari on the central nervous system, all of which require careful monitoring.  First, Christopher needed to do a full spine MRI to see if CSF was collecting in pockets called syrinx.  Syringomyelia, once it develops, can cause permanent nerve damage, so they operate as soon as it’s diagnosed.  Full spine MRIs are done approximately every 12 months.  Second, Christopher needed to see a pediatric ophthalmologist to have his optic nerves checked.  The occipital lobes are at the back of the brain, so compression at the skull base can also damage the optic nerves, which can cause color blindness and strabismus (lazy eye).  Optic nerve damage is, therefore, also considered an emergent reason to operate.  Optic nerve checks are done every 3-6 months.

Figure 1--Basic diagram of the spinal cord and its relationship to the brain.  The Brain Book, p. 53.

Figure 2-Even though cerebrospinal fluid doesn't flow freely around the back of the brain in Chiari patients, it can get stuck inside the spinal cord.  When this happens, it is called a syrinx.  Image courtesy the mayo Foundation.

At that time, Christopher’s headaches were all over his head and weren’t localized to the base of his skull, so while some of his headaches—like the exertional ones he experienced during swim team—were Chiari in nature, the Johns Hopkins crew were concerned about the others.  Were they migraine?  Were they allergy/sinus?  Were they tension/stress?  Christopher had developed some pretty scary visual disturbances, sometimes seeing everything through an orange or yellow haze, sometimes seeing “steam” in his right peripheral vision.  Were these disturbances related to optic nerve damage?  Or were they migraine auras?  To help elucidate these questions, we were asked to also find a pediatric headache specialist and a cognitive behavioral therapist.

Image 1--This is technically from Christopher's spinal MRI, not his brain MRI, but this  shows the different structures quite nicely and shows that there is clear herniation of the cerebellar tonsils below the foramen magnum.

Leaving that appointment was hard.  Christopher was not thrilled to hear he had more tests and specialists to see, with no one offering anything concrete to make the headaches go away.  I’ve spent enough years performing experiments in a lab that I could appreciate the Hopkins perspective.  They wanted to eliminate distractors and isolate variables.  But how do you explain that to a child who’s been in pain for weeks?  Somehow, the fact that, living near DC, we’re in a specialist hotspot and rarely have to wait more than a few weeks for an appointment was cold comfort.  

Yaroslavl; Inova Children's Hospitalization and Formal Chiari Diagnosis

Our first nights aboard the train were physically my hardest.  I had only told a very few people, we didn’t yet have a confirmed diagnosis, and Christopher’s headaches were getting worse.  He was up most nights trying to remain perfectly still to ward off severe dizzy spells, he was nauseous most of the time, and the headache was bouncing between moderate and severe at all times.  He had quit the swim team he loved because practices intensified the pain so much and had also stopped playing outside with his friends.  I’d finally given up on schoolwork, instead allowing him to read on the couch most of the day.  It was easier than watching him silently cry while sitting attempting to do fractions.

I had moderate G/I upset, had lost several pounds, and was suffering insomnia.  After one particularly scary episode where we had to ask ourselves whether or not he was having a stroke or seizure, the on-call pediatrician told us he thought Christopher was having intermittent intracranial pressure spikes, consistent with the Chiari diagnosis, and that it was time to admit him to Inova Children’s.  The idea was that the pediatric neurologist, gastroenterologist, and neurosurgeon could come to him and do the required brain MRI and blood work to get a firm diagnosis in a much shorter timeframe than if we did separate, outpatient, clinic appointments.  Furthermore, all this could be done while feeding him an IV headache cocktail to try breaking the headache since over-the-counter methods had failed.  He was very scared of the IV, as he’s always hated needles, but we didn’t have to coerce him into the hospital.  He was ready for an answer, and hopeful stronger meds would finally rid him of the headache.

In fact, I think he was a little too eager, as the resident was disinclined to hook him up to the IV meds his pediatrician had ordered—she thought he was too chipper for the level 8 headache he described.  I’ve since learned, that’s just his hospital demeanor.  Where he shuts down at clinic appointments, sure the doctors are going to ask him the same million questions he’s already answered multiple times, he feels like hospitals get things done—scary things, to be sure, but still, things that move the train into the next station.  And sure enough, while the IV meds brought less than 24 hours relief from the headache and never fully broke it, the brain MRI and blood work brought us definite news.  First, the gastroenterology work up showed no evidence of inflammatory gut disease, liver or pancreas  deficiency, anemia or other nutritional deficiencies.  And second, the brain MRI definitely showed a severe Chiari I Malformation.

I’ll never forget our conversation with the pediatric neurosurgeon.  Dr. Leon Moores came in wearing a full suit and tie, with a young female PA in tow.  He asked me to sit and tell him about Christopher’s headaches.  Christopher, excited because he’d been told we could leave, and temporarily feeling pretty good because he only had a mild headache, spent the entire conversation manipulating every button he could find on the hospital bed—there’s a reason I call him my little engineer.  At one point, when I described Christopher coming in from playing with his friends to eat dinner, only to intermittently stop, place his head upside down in his arms, and then continue eating, the surgeon’s eyes opened wide and he signaled to the PA.  When we were done and, for the first time, I was given a full explanation for a Chiari I Malformation, he told me that Chiari headaches are considered exertional headaches because the cerebellum and brain stem, in their herniated state, sometimes block cerebrospinal fluid (CSF) flow.  CSF flow is what prevents your brain from bruising itself on the interior of your skull every time you suddenly stop, whether walking, riding a bike, flipping a cartwheel, or braking a car.  Without the necessary fluid flow, pressure within the brain spikes (hence our pediatrician telling us he thought Christopher was having intermittent intracranial pressure spikes).  But here’s the kicker—putting your head upside in your hands allows that brainstem, like a cork in a wine bottle, to float out of the foramen magnum and restore flow.  That, we were told, was more indicative than the MRI that his Chiari is severe—after all, he’d figured out the posture by himself, just like all Chiari kids, without needing to read the textbook.  He also told us we would need to get to know each other very well before we discovered whether Christopher’s headaches were caused by a Chiari severe enough to warrant surgery.

Figure 1--Unfortunately, Professor Ken Ashwell did not put a skull around this image, but it does show the path of cerebrospinal fluid flow around the brain, and its encapsulation by the dura.  The Brain Book, p. 67.

I left Inova Children’s hospital feeling much, much better than I had in weeks.  Christopher, for all his hospital bed button-pushing, had heard the words brain surgery and made sure to tell me he was too scared to even consider it.  But I felt relief in the definite.  For me, ignorance may be bliss, but uncertainty is hell.  The insomnia continued, but my stomach started behaving much better and I stopped losing weight.  Christopher, however, just kept getting worse.  All car rides now triggered massive motion sickness, far worse than the kind he’s experienced his whole life.  By the second day home, he informed us he was never leaving home again, it just wasn’t worth the pain.