Medical Monday: Inferior Vermian Dysgenesis

It's that time again: Medical Monday! I blog each Monday about a different condition Connor has and then post a link to it on the side bar as I go. This way people can get a better idea of what Connor deals with on a daily basis and his family and friends can understand what I'm saying when I call and spout ridiculously long medical terms.

DISCLAIMER: I would like to emphasize for those people who stumble upon this blog that I'm not a doctor, and I have no medical experience other than the approximately 900 doctor's appointments I've been to in the past two years. I just know about these things in relation to how they apply to Connor and not anyone else's child, so if you want accurate info on this sort of thing, please please please ask your doctor or go to the medical library instead of looking it up on the Internet. The library is your friend.

So today we're diving back into the brain. We're going to be looking at a portion called the vermis.

First we have to talk about the cerebellum, though. The cerebellum, which is found at the very back of the brain, is the steering mechanism of the muscles. It helps regulate body movements, eye movements, balance, and the processing of sensory information. I've drawn you yet another happy brain picture here to show you where it is.

Now the cerebellum has two hemispheres just like the larger portion of the brain does ("cerebellum" in Latin actually means "little brain") and each of these hemispheres control a side of the body: the right side of the cerebellum controls the right side of the body, and the left side of the cerebellum controls the left side of the body. These two hemispheres are connected in the center by the vermis, which acts as a communicator of information and also has a role to play in directing balance and posture.

The vermis is divided up into a number of different pieces, each acting as a communicator for a different portion of the cerebellum. The part of the vermis we are interested in is called the inferior vermis. This part connects the two lower halves of the cerebellum. It is further divided into the nodule, the uvula, the pyramid, and the tuber vermis. Fun names, huh? Each of these pieces connects to a different part within the cerebellum. The vermis is kind of like the meat in a cerebellum sandwich, so in this picture I've pulled the two pieces of the cerebellum apart so you can see the vermis in the center. Otherwise it's hidden from view.

In Connor's brain, the inferior vermis is underdeveloped and very small. This is a condition called inferior vermian dysgenesis. Basically the parts are there, but they are malformed. So what does this mean for him?

Keep in mind that scientists still don't have a good grasp on how the brain functions, and also a lot of Connor's conditions could be caused by several different things. Here's the basics, though, of how Connor is probably affected by his inferior vermian dysgenesis.

First of all, the two hemispheres of his cerebellum probably have a hard time communicating. As a result, Connor has a tough time moving the right and left sides of his body together. This makes activities that involve this coordination, such as walking, very difficult.

Secondly, one of the parts of the inferior vermis, the nodule, along with it's corresponding part of the cerebellum, the flocculus, is at least partially in charge of balance and posture. There's also some evidence that these parts help control body awareness-- knowledge of where body parts are in space. This is what lets you close your eyes and touch your nose. Because Connor's nodule is small, his balance is very poor. Also he has a difficult time doing activities like feeding himself, because he's not sure where his head is in relation to his hand. We've noticed that when Connor is eating (we have him hold the spoon and we also hold the spoon and his elbow) that if we have him direct the spoon he jerks his arm around in space and seemingly has no idea where his mouth is. If we help him touch the spoon to any part of his face, he's able to guide it down or up to his mouth. However, he seems to be able to put his fingers in his mouth without too much trouble, so it's tough to tell if he really can't figure out where his mouth is, or if he just doesn't want to direct the spoon there.

On a rather scary note, a lot of people with schizophrenia have vermian dysgenesis. Hopefully this will not be the case with Connor. The kid has enough going on as it is, thank you very much.

So what's the treatment for this sort of condition? Once again, since the problem is neurological, there isn't really a treatment or cure. The parts aren't going to grow any larger in relation to the rest of the brain. We'll just continue to try and make new connections that help Connor bypass some of the issues, and we'll continue to make adaptations so that Connor is able to function as independently as possible.

There's not a whole lot of information on the internet about inferior vermian dysgenesis, but here's a few links:

Purkinje Cells in Posterior Cerebellar Vermis Encode Motion in an Inertial Reference Frame

National Institute of Neurological Disorders and Stroke: Joubert Syndrome (note: Connor does NOT have Joubert Syndrome, as he is diagnosed with his chromosomal issue. However, he does share the vermian dysgenesis that defines Joubert Syndrome.

Joubert Syndrome: a clinico-radiological study

Arquivos de Neuro-Psiquiatria- Cerebellar vermis hypoplasia- non progressive congential ataxia: clinical and radiological findings in a pair of siblings

~Jess

Medical Monday: Hypoplastic Pons

It's that time again: Medical Monday! I blog each Monday about a different condition Connor has and then post a link to it on the side bar as I go. This way people can get a better idea of what Connor deals with on a daily basis and his family and friends can understand what I'm saying when I call and spout ridiculously long medical terms.

DISCLAIMER: I would like to emphasize for those people who stumble upon this blog that I'm not a doctor, and I have no medical experience other than the approximately 900 doctor's appointments I've been to in the past two years. I just know about these things in relation to how they apply to Connor and not anyone else's child, so if you want accurate info on this sort of thing, please please please ask your doctor or go to the medical library instead of looking it up on the Internet. The library is your friend.

Today's topic is the pons.

The pons is part of the brainstem-- it's found at the base of the brain between the midbrain and the medulla. I'll draw you a cute little picture here so you can see where I'm talking about. The pons is a pretty important part of your brain, and it has quite a few different functions. Scientists aren't sure exactly what all of them are, as for the most part the brain is a big mystery, but they're pretty sure about a few functions. Here are some of the things the pons does:

-Acts as the communicator of sensory information between the medulla oblangata, the cerebellum, and the cerebrum. Basically it acts as a conduit for all of this information.

-Helps regulate breathing.

-May possibly have some effect on REM sleep and dreaming.

-Contains the reception points of four cranial nerves:

-- The Trigeminal nerve, which controls the sense of touch and pain in the face and scalp

and also has a role in biting, chewing, and swallowing

-- The Abducens nerve, which controls the movement of the eye outward

-- The Facial nerve, which controls facial expressions and the movement of one of the

bones in the inner ear

-- The Vestibulocochlear nerve, which transmits sound and balance information from the

inner ear to the brain

So Connor's pons is hypoplastic, which is a fancy-shmancy word for too small. All of the parts are there, but they are all undersized. Another way of writing this condition is pontine hypoplasia. A small pons can have a variety of different effects on different people depending on how small the pons is and which parts are too small. It's also sometimes difficult to tell with Connor which issues are due to the pons and which are due to one of the other neurological issues he has, but the pons is probably affecting him at least partially in several areas.

First of all, he has difficulty controlling his muscle movements and gets very frustrated when his body won't do what he tells it to do. This could be because the information isn't all being relayed due to the smaller connection between the cerebrum and the cerebellum-- only bits and pieces are getting through, or they're getting through at a delayed rate. He also has an extremely high tolerance for pain and a fairly severe sensory processing disorder, which could be caused, as in the motor skill issues, by information not making its way properly through the pons. His breathing is fine, thank goodness, except when he's having a seizure, which is a whole other story that I'll talk about on some other Medical Monday. He seems to sleep pretty well, too, and we're pretty sure he can dream as he makes little noises and facial expressions in his sleep. Where the small pons seems to have had the biggest effect for him is in the nerves that it acts as a receptor for.

The most obvious issue is with the Abducens nerve. One of Connor's eye conditions, Duane's syndrome, is caused by this nerve not working the way it should. As for the other nerves, well, he's able to swallow, but he has difficulty coordinating his jaw movements, drools due to weakened jaw muscles, and does not chew at all. He has what the doctor calls "reduced" facial expressions. Part of the issue is that his upper lip is still connected to the underside of his gum, but he also seems to have some weakness in his facial muscles. Connor has extremely poor balance, and the doctors suspect he might have some difficulty processing the information coming into brain from his ears, as he sometimes seems much more alert and able to locate sounds and other times seems to completely ignore them. All of these things could be caused by a hypoplastic pons.

We're very lucky that his breathing was NOT one of the things affected, or it's likely that he wouldn't have survived past birth. As for a prognosis or cure, well, none of these things are treatable or "fixable" because they are due to his brain structure, but we can help him form new brain pathways that can help with some of the issues, such as the sensory processing disorder and motor skills. We can due this by continuing to expose him to new situations and to help him practice moving his muscles over and over. We've already seen big improvements in those areas, and hopefully he'll continue to get better as time goes by!

There's not a whole lot out there in regards to the effects of a hypoplastic pons, but here's some information about its general function:

Neurosurgery Today: Anatomy of the Brain

Just One More Day: Function of The Pons-- this website deals with tumors of the pons, but has some valuable information. Many of the symptoms of a pons tumor have similar effects as having a small pons because the symptoms are all caused by impaired function of the pontine region.

~Jess

Frustrating Day

So I made the mistake of bragging to Ellen over at To The Max about how I'd actually had a pretty good week. Sometimes I think God uses my life for entertainment value. "Did you hear that?" he says, elbowing Gabriel in the ribs. "She's bragging about having a good week again. Give her the chair!" Then Gabriel comes down and executes a pile driver on my day while all the other angels look on and cheer.

Anyway, yesterday afternoon after his evaluation Connor kind of got all quiet and started acting like he was tired. I figured he'd just had a hard day and didn't think much of it. This morning when he woke up, however, he was kind of blue around the mouth and at the fingers and toes. Any mom who has a kid with heart issues knows that this is not a good thing.

Connor usually doesn't have any cyanosis-- that's the blueness-- so I was a little bit worried. He didn't seem out of sorts at all, though, it obviously wasn't a seizure since he was still conscious and breathing, and he pinked up pretty quickly when I got him dressed. I figured maybe he'd just been a little cold. I debated with myself about whether or not I should take him to Family Conversations play group, but I ended up deciding to go ahead since he was pink and happy, and just to call and make an appointment with his cardiologist for the next week.

I told them at play group that he was looking a little blue around the edges and so to watch him carefully (we go off and leave the kids with the therapists for about an hour while we listen to presentations or get sign lessons) and when we came back, they said he'd had a couple of episodes and seemed to pink back up when they lay him down on the ground. He started going cyanotic again during the last song of the day, so we took him into the other room. By this point I'm thinking-- okay-- I really don't want to wait until next week to see someone. He probably needs his medication adjusted and that's all it is-- he's gained quite a bit of weight and he's more active now-- but just in case I'd better take him in. We debated on whether or not I should just call an ambulance, but by this point he was once again pink and happy, so I just put him in the car and drove down to the military hospital where our cardiologist works.

I called the appointment line on the way there and was informed that they could squeeze me in in early March. Riiiiiiiiight. I explained the situation and they said that I could either call the pediatric specialty desk directly and see if they could page the doctor or I could go to the ER. So I called the ped's specialty desk. The phone rang twenty times. No one picked up. I gritted my teeth and drive to the emergency room.

When I got to the ER, I explained the situation to the guy at the front desk. He looked at my currently pink, happy child and said, "Well, here's the deal. He's not blue right now, and we're pretty busy today, so it will probably be an eight to ten hour wait, and the Echo team will probably already be gone for the weekend. If I were you, I'd just walk in to the clinic. They should see you a lot faster." So we got back in the car and drove back around to the clinic.

When we got to the clinic, the person in charge of reception at the pediatric specialty clinic was still MIA, so we walked down to the general ped's clinic. They told me that they weren't able to make any appointments for cardiology, and not only that, but Connor's doctor was out of the hospital for the day. I explained the situation for the third time and they decide to find another cardiologist to take a look at him.

This is when things get really ludicrous. The other cardiologist comes out, and with him standing over me in the middle of the waiting room we have the following conversation:

Me: Hi! I'm Jessie, and this is Connor-

Man: He probably has arrhythmia.

Me: Um...well he's got left ventricul-

Man: I know. I read the nurse's note.

Me: (Refusing to be interrupted.) He's had some intermittent cyanosis, which is not a typical symptom for him, and it seems to cluster around periods of activity. He's also been acting unusually tired. His medication hasn't been adjusted for a while, and I'm wondering if we couldn't have you take a quick look.

Man: Probably arrhythmia. If it happens again take his pulse and see what it's doing. Then you can have me paged.

Me: Well, he hasn't had any arrhythmia before, so I was just thinking maybe we need to check his lisinopril dose-

Man: Well if he's going into heart failure there's nothing we can do anyway. Just take his pulse if it happens again. We'll have Dr. P (Connor's cardiologist) call you tonight.

And then he walked off, leaving me sitting in the waiting room in sputtering, incoherent rage.

It's not almost nine in the evening and Dr. P hasn't called-- leaving me to speculate that they probably put the page in through the computer system and not the pager system, so he'll get the message on Tuesday (it's a four day weekend because of President's Day). He's usually pretty good about calling me back, so I'll give him the benefit of the doubt. I didn't stay and insist on Connor having an Echo done for two reasons--

1) He is still being a pink, happy baby and he hasn't had any more blue episodes. We'll just take it really, really easy the next few days until we get in to see our cardiologist, and if things look any worse I'll immediately take him to the ER, which is literally a two minute drive from my house.

2) I never ever want to see that doctor ever, ever again.

Seriously. I could maybe, maybe almost sort of understand him being a little rude if I was in there, say, five or six times a day with imaginary ailments, but this is the first time I've ever done this sort of thing. Maybe things were really, really busy and he didn't have a lot of time-- then I could understand him being a little bit short with me. Fine.

But what kind of a jerk on being told that a kid with heart issues is potentially having trouble walks into a crowded waiting room, doesn't even bother to take the kid's pulse, announces "well if he's going into heart failure there's nothing we can do anyway?" and then walks off?

Bleagh.

~Jess

Medical Monday: Duane Syndrome

It's that time again: Medical Monday! I blog each Monday about a different condition Connor has and then post a link to it on the side bar as I go. This way people can get a better idea of what Connor deals with on a daily basis and his family and friends can understand what I'm saying when I call and spout ridiculously long medical terms.

DISCLAIMER: I would like to emphasize for those people who stumble upon this blog that I'm not a doctor, and I have no medical experience other than the approximately 900 doctor's appointments I've been to in the past two years. I just know about these things in relation to how they apply to Connor and not anyone else's child, so if you want accurate info on this sort of thing, please please please ask your doctor or go to the medical library instead of looking it up on the Internet. The library is your friend.

So today's topic is Duane Syndrome. What is going on in this picture? Other than total frosting decimation, I mean. You may notice that what we call Connor's "wonky eye" (very technical term there) or "wonkavision" (because we aren't Roald Dahl fans in this house at all) is clearly visible. What most people think when seeing this picture is that Connor is looking straight at the camera and one of his eyes is turning in. Actually what's happening is the opposite-- he's looking up and away from the camera, and it's the eye that's looking straight ahead that's the problem. Connor has Duane Syndrome.

There are six muscles responsible for the movement of the eyes. Two of them control the horizontal movement-- one for inward movement, and one for outward. Each eye muscle receives its instructions from one of three cranial nerves. In Duane Syndrome (DS), cranial nerve VI, also known as the abducens nerve, is either missing or malfunctioning. This nerve sends the instructions for the outer movement of the eye.

There are three main types of Duane Syndrome. Connor has Type I DS, which means that he can move his eyes inward, but not outward. When Connor wants to look at something to his right, for example, his left eye will turn inward as it should. His right eye will get to about mid-line and then won't go any farther. In order to keep his depth perception and look at something with both eyes, he has to turn his head. This means that he's unable to track something unless it is fairly slow, because he has to turn his head to keep it in both eyes in line. (Try doing this sometime-- look straight in front of you and turn your head to watch something instead of your eyes. It's exhausting.) It also causes problems because people automatically align themselves with the eye that's straight ahead and think he's paying attention, when in fact the dog or mime in a box or whatever it is he's actually trying to look at is off to one side. About 80% of people with DS have it in only one eye. Connor is one of the "lucky" 20% that has it in both. In his case, his left eye has a little more movement than his right.

There's not much they can do for DS. Surgery isn't going to help when it's a problem with the nerve and not with the muscle-- usually the only reason surgery would be involved with DS is to correct a head tilt caused by someone trying to keep their eyes aligned. You can't really "retrain" the problem either by using a patch, for the same reason. Connor actually compensates pretty well.

Here's some good links involving Duane Syndrome:

National Human Genome Research Institute

Orphanet: Duane Syndrome

American Association for Pediatric Opthamology and Strabismus

~Jess