We Interrupt Your Regularly Scheduled Medical Monday To Bring You An Important Message About Poop

So this, being Monday, should be a post about something medically related. However, I haven't done my homework today. This is because Jer recently purchased himself a copy of Fallout 3 and had most of the day off. That's my excuse, anyway.

So I'm not going to have a Medical Monday. I'm going to take a break and talk about another theme that for some reason pops up periodically in this blog: poop.

That's right. This is yet another post about poop.

So Connor has been having some GI troubles lately. Prior to his g-tube placement, constipation was the issue. Well, no longer. Now on any given day I'm changing between 6-10 diapers. This is not particularly my idea of fun. I'm going to tell you about an event so horrific I believe I am now traumatized for life. The squeamish may wish to go find something else to read. It's not going to be pretty.

The day that shall forever go down in infamy as the day of the Poop That Would Not Die started out pretty much like any other day. Of course, Connor did have that as-yet-undiagnosed UTI and so was rather crabby, and also I'd already changed four diapers, but other than that we were just going about our usual business. Jer was away at work, and Connor and I had just eaten lunch. I was happily sitting with one hand tucked under the little guy on my lap at the computer desk, checking my e-mail, when Connor's rear end emitted the kind of noise that makes scientists monitoring volcanoes push the big red alarm button and run for the hills.

Connor, who felt that the noise might not have tipped me off, immediately stuck his hand down his diaper and emerged with unquestionable and very disgusting evidence that he needed changing. He's into experimenting with exotic flavors right now, so the hand immediately headed towards his mouth. With a grimace of horror I grabbed his wrist and held it away from his body. I then gingerly picked the little guy up with the other hand and trotted down the hallway to his bedroom to change him.

Unfortunately for me, I neglected to do two things: oversights which I would have ample cause to regret later. The first that was while maneuvering Connor out of my lap one-handed, I failed to keep him perfectly level. The second was that I didn't pin his other hand.

I got about two thirds of the way down the hallway when I realized that the hand underneath Connor's rear end now seemed to be damp. I glanced down and saw to my horror that my entire hand was now covered in what looked like chocolate syrup, and not only that, but we had left a trail all the way down our beige carpeted hallway. I sprinted the rest of the way into Connor's room, leaving poop puddles in our wake, and plopped the kid down on one of his washable rugs.

I now had a dilemma. I had one free hand, currently covered in poop. The other relatively clean hand was clamped down on Connor's wrist. After ineffectual attempts to get Cricket to dial Jer on the phone (if little Timmy fell down the well, Cricket would shove the well cover the rest of the way on and take a nap on top of it) I finally managed through a creative use of diaper wipes to at least rid my hand of the worst of the damage so I could concentrate on getting Connor cleaned up.

I wiped off his hand, cleaned up his rear, took off his soiled clothes as well as mine, bundled all of them up in the now soiled rug, and threw the whole mess into the washer. Then I scrubbed my hands, started a bath running, found the carpet cleaner and took care of the poop trail that led all the way back into the office. I grabbed Connor and plopped him in the bathtub, which is where I realized that his OTHER hand was also somehow completely covered in poop. Connor got a thorough scrubbing. I gave myself a quick bath, dressed Connor, and then set him down clean and wonderful into his crib so I could put away the cleaning supplies and get dressed.

I was in the bathroom, reaching up into the cabinet above the toilet, when I happened to look into the mirror. I froze.

There was poop in my hair.

Not just a little bit. There were large streaks of poop all down one side of my head, lovingly applied by Connor, who apparently wanted to spruce me up a bit and thought dramatically stinky lowlights would be just the thing. Being a reasonable, intelligent adult, I did the only thing possible in this situation.

I freaked out. I believe my exact words were something along the lines of:

"YAAAAAAAAAAAAAAAAAAAAAAAA!!!!!!!!!"

Some people just can't stand roaches. For other people, snakes cause them to leap in terror atop the nearest available chair. Not me. I have no problem with any creeping, crawling arachnid, insect, reptile, or rodent. I'm the type of person who not only carefully catches jumping spiders and deposits them gently outside my house, but then I go look them up in my identification book so I can call my Dad and tell him about them later. Well, I have now discovered my phobia. Poop in my hair reduces me to a gibbering, frantic crazy woman. Thank God my razor was in the other bathroom, or I probably would have grabbed it and shaved myself bald.

As an aside: I think they should make you sign a contract before having children. It would contain a clause saying: "WARNING: HAVING CHILDREN MAY CAUSE APPLICATION OF POOP TO YOUR HAIR." Give it to the girls on prom night and watch the teen pregnancy rate plummet.

Anyway, back to the story. I hurtled into the shower, my screaming now interspersed by language that I will not be recording for posterity, and turned the water on as hot as it would go. If it was possible using only hands and a washcloth to scrub one's hair and scalp completely off, I would have done it.

After having shampooed and rinsed my hair for the eighteenth time and inspected it minutely to make sure not a single particle of offending poop remained, I toweled off, got dressed, and dragged myself back into Connor's room. Connor, no doubt resenting not only my leaving him in his crib for so long but also my rejection of his hairdressing attempts, was pitching a royal fit. I leaned over, picked him up, and singing him a little soothing song, bounced him on my hip.

He pooped all down my leg.

~Jess

Medical Monday: Eczema

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 we're going to talk about eczema.

Eczema is one of the few rather common things that Connor has. He doesn't even have the really rare variety or anything, which is sort of a relief. So what is eczema, anyway?

In a three word explanation: It's a rash. A red, bumpy, itchy rash that can cause cracked, weepy, bleeding skin and is not a whole lot of fun. There are a number of types of eczema and related skin conditions, but the one Connor has is the most common. It's called atopic dermatitis.

Atopic dermatitis is a skin condition that has some hereditary factors. In Connor's case, he has members on both sides of the family that have issues with a variety of skin conditions, and though neither Jer nor I have any issues with our skin, Connor is another story. For the first six months after he was born, I had to use unscented shampoo, creme rinse, lotion, and deodorant on myself or he would break out in a rash just from skin-to-skin contact. I had to wash my house with vinegar-- just being in the room with bleach would make him breakout. I still use unscented laundry detergent on all of his clothing, though he has improved to the point where I can use scented bath products again, thank goodness, and can even use them on Connor if they're gentle.

Connor's rash can be triggered by more than just contact with scents and chemicals. It can also appear when it gets cold or really hot outside, when the seasons change, when he's under stress, or when we travel. He tends to break out in it on the back of his knees, inside his elbows, under his armpits, and on his face-- especially behind his ears. He'll go for long periods with his skin being completely clear, and then all of the sudden will break out again.

So how does having eczema affect Connor? Well, there's a 50-80% correlation between having eczema and developing asthma. Since there is a history of asthma on both sides of the family (though it skipped Jer and I once again) we have to make sure to keep a close eye on Connor. He doesn't show any signs of it thus far, but he could still develop it as he grows up. Connor's eczema is also obviously uncomfortable when it flares up-- it's red and itchy and irritating. Other than infection if he scratches himself too much (which, due to his motor skills, is rather unlikely) it isn't otherwise a threat to his health.

How do the doctor's treat Connor's eczema? Well, we slather the kid in lotion on a fairly regular basis-- especially when it looks like he's going to have a flair up. Holding him then becomes rather like trying to corral a greased pig, so you have to be careful, but it all soaks in pretty quickly. If his flair ups get really bad, we have steroids we can put on his skin, but thankfully we haven't had to pull those out in over a year.

What's the prognosis for Connor's eczema? It has improved immensely since he was born; he seems to have built up an immunity to many of the things that triggered it before. He still has mild break outs when he's stressed, when someone who holds him has on particularly strong perfume or lotion or is a smoker, or when we travel, but we usually have a long break of smooth, happy skin in between those flair ups. Since he's improved so much already, it's likely that he'll continue to improve, though he may never be entirely rid of the issue and it may flair up again at adolescence.

Here's some resources about Connor's type of eczema:

MedicineNet-- Atopic Dermatitis

NIAMS-- Handout on Health: Atopic Dermatitis

American Academy of Dermatology-- Eczema/Atopic Dermatitis

~Jess

Medical Monday: Aqueductal Stenosis

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 aqueductal stenosis.

So in addition to your brain having that thick skull for protection, it's got this neat protection system to cushion it from damage-- kind of like a miniature Zorb ball. Basically, it produces a fluid, called cerebrospinal fluid (CSF), and the brain then "floats" in this fluid inside the skull, providing a buffer against damage-- in other words, preventing your brain from rattling around like a BB in a tin can.

CSF also brings nutrients to the brain and takes waste products away from it. The brain is constantly producing it-- around 500 ml a day, or a little less than 17 ounces. That's a lot of fluid, and it won't all fit in your skull. Instead, it constantly drains out a channel inside your brain and down into your spinal cord.

CSF is produced towards the center of your brain, in an area called the choroid plexus. It then flows into the third ventricle, from there down a little channel into the fourth ventricle, and then it has two channels that allow it to flow around the outside of the brain. Finally the fluid flows down the spinal cord. Here's a handy video to show what this looks like.

Now, the little passage way between the third and fourth ventricle is called the aqueduct of Sylvius, a name that sounds like it should refer to some river in Italy. This passageway is already a little bit narrow. In Connor's case, his passageway is stenotic-- too narrow. This could potentially cause him problems, because it's more likely to become blocked by swelling or a blood clot.

What happens if the aqueduct of Sylvius is blocked? Remember, all of the CSF is being produced near the third ventricle, and it is then flowing down the aqueduct and into all the other regions of the brain. Well, if the aqueduct is blocked, the brain continues to produce CSF, but it has nowhere to go. The third ventricle and the lateral ventricle above it fill up, and then the pressure begins to push the brain matter that forms the walls of the ventricle out. The problem is that the brain is surrounded by the skull, which isn't going to do a whole lot of stretching and giving. It can grow a little bit, but not enough. The brain ends up squeezed against the walls of the skull, and if the pressure isn't relieved quickly, you end up with, to use a technical term, mushed brain. This is not good.

So what can doctors do for aqueductal stenosis? Well, right now they don't have to do anything; Connor's intracranial pressure is normal-- in other words, he is not currently experiencing any brain mushing-- and so he's not having any problems with draining his CSF right now. If it were to become a problem in the future, then the doctors could install a shunt. This is basically a little pipe that would be inserted into his third ventricle and then down into his spine to drain the excess fluid off.

Right now, however, Connor isn't experiencing any issues from his aqueductal stenosis, and we're keeping our fingers crossed that it will stay that way. He has a neurologist who follows him, and once a year or so he has an MRI or a CT scan to see how things look in there. Other than that, it hasn't affected him in any way.

Here's some information about CSF and aqueductal stenosis:

The Neuroscience on the Web Series: The Meninges and Cerebrospinal Fluid

UCLA Neurosurgery: Aqueductal Stenosis

~Jess

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

Medical Monday: Hydronephrosis

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 hydronephrosis. Let's have a mini English lesson and play break down the word, shall we?

hydro-- water

nephro (o is dropped)--kidney

osis-- disease

The kidneys are your body's cleaning system-- kind of like the filter on a fish tank. They sift out all of the waste products and extra water from your blood and use it to create urine, which then travels down the ureters to the bladder where it is stored until it is released from the body. They also produce two major hormones and one enzyme.

There are several different things that can cause the condition called hydronephrosis, but by far the most common reason for it is that somewhere down this system, a blockage has occurred. It can be something like a kidney stone, or it can be a problem with the formation of the ureter. The urine tries to flow down the ureter, but the blockage prevents it from reaching the bladder, so it backs up into the kidney. The kidney continues to produce urine, but now there's nowhere for it to go. Hence "water kidney disease." What ends up happening is that the kidney begins to swell like an inflating balloon, and if it gets big enough, irreversible damage can occur. Almost all hydronephrotic kidneys never get to this size however, and often times the blockages either resolve themselves before the child is born or can be fixed with minor procedures. Not in Connor's case, of course, because that would be waaaaaaay too simple for this kid.

Connor's blockage was a type called a ureteropelvic junction obstruction. What this means is that the blockage was right at the base of the kidney, at the joint where the ureter and the kidney meet. That's a pretty common place for the blockage to occur. What wasn't common was just how large Connor's kidney became and how serious the condition was.

Connor's blockage caused his right kidney to begin enlarging while I was only four months pregnant with him, and it continued to grow throughout my pregnancy. Here's a freaky fetal MRI picture they took of him while I was eight months pregnant. Ignore the crazy Mars Attacks eyeballs and brain and check out his body. The top white area in his torso is his lung. The bottom white area is his kidney. The kidney is bigger. Think about that for a minute. A kidney at that stage in development is supposed to be less than eight millimeters across. Connor's right kidney was sixty-two.

So when the kidney is ballooning up like this, there's only so much it can expand before bad things start happening. All of the material inside that is supposed to be doing its job of filtration and hormone production starts getting squished up on the inside, and as the cells are compressed they can be damaged. When a kidney is extremely enlarged, like Connor's, those cells can stop functioning, and blood pressure can skyrocket because the kidneys aren't pulling enough salt out of the bloodstream. The kidney also begins to displace the other organs, pushing against the diaphragm so it is hard to breath, and pressing on some of the major blood vessels of the body, cutting off blood supply. This is extremely dangerous.

So what can you do in an extremely severe case of hydronephrosis like Connor's? You can't just remove the blockage and leave the kidney to recover in a case like this, because the kidney is too damaged to work properly even after it's "deflated." You have to take the kidney out. Connor had his right kidney and the top portion of his ureter removed when he was five days old in a procedure called a nephrectomy. You can read about his surgery and the events leading up to it here, if you are interested.

Luckily, you can live quite easily with only one kidney, and Connor's left one seems to be functioning quite well. It's a little larger than the kidneys of most kids of his size, but that's pretty common when you've only got one-- it grows a little so it can do the work of two! We call it his "super kidney." Once a year we go in and have his urine tested to make sure that his left kidney is functioning the way it should be, and this adds yet another check-mark under "no contact sports" as we want to protect the one he's got, but otherwise it shouldn't affect him in any way.

You can learn more about hydronephrosis and nephrectomies here:

Children's Hospital Boston: Hydronephrosis

UCSF Medical Center: Hydronephrosis

Urology at Hopkins: Ureteropelvic Junction Obstruction

Encyclopedia of Surgery: A Guide For Patients and Caregivers-- Nephrectomy

~Jess

Medical Monday: Connor's Chromosomal Condition (The Extremely Long Explanation)

Yes, yes, I know it's actually Tuesday. You wouldn't BELIEVE how long it took me to write this post. But I started when it was Monday, so Medical Monday it is.

So anyway, 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.

A FURTHER WARNING: This is a really, really long post, folks, and it's still a simplified version of what is a very, very complicated process. If you aren't all that interested in the hows and whys of balanced and unbalanced translocations, I suggest you skip it. Sorry. Oh, and also my drawings are really bad.

So today's topic is the big one-- the one that caused it all. That, my friends, is Connor's genetic condition-- a submicroscopic subtelomeric unbalanced translocation 46xy der t(1)(1;15)(q42;q26.2). That's quite a mouthful! But what the heck does all of that gobbledygook mean?

To explain that, we're going to have to go back. Way back. Not to Connor's conception-- but to his dad Jeremy's. This is because while most genetic issues are what's called de novo-- meaning they are spontaneous mutations that weren't passed down from either parent, that wasn't the case with us.

Every cell in the human body is a diploid cell; it has within its nucleus 46 chromosomes-- 2 pairs each of chromosomes 1-22 and either a pair of X chromosomes or an X and a Y chromosome-- which carry all of the genetic information of that unique individual. Every cell, that is, except mature sperm cells. During sperm cell production, the cell undergoes a process called meiosis. It's a really complicated process, and you can see a video about it here if you want the long complicated explanation, but when it's all over and done with you end up with four sperm cells with only 23 chromosomes in each sperm cell-- haploid cells. Here's a basic explanation of the whole process if mine didn't make any sense.

Anyway, so on to fertilization. Sperm, meet egg. Egg, sperm.

The egg still has two full sets of chromosomes. However, just before it begins its journey to meet the sperm, the egg's chromosomes split apart. There's still 46 of them in there, but they aren't attached to one another any more. They stay this way until the sperm and the egg meet, and then the sperm's 23 chromosomes all pair up randomly with one of the egg's chromosomes. The sad loser wallflower egg chromosomes that didn't get picked up by the suave handsome sperm chromosomes are launched into oblivion in a little capsule called a polar body, leaving an egg with 46 unique chromosomes-- the beginnings of a new human being.

A crazy little fact-- there are 64 trillion different ways the egg and sperm chromosomes can combine, pretty much ensuring that all of your children will be absolutely unique, unless you are having identical twins, which I'm not going into here. Um, anyway, back on topic.

So in all of this chromosome tangoing, there is room for error. Sometimes when the chromosomes are doing their delicate dance of separation and partnering, something goes wrong.

So here's our starting point:

In Jeremy's case, what happened is when either the sperm or the egg did their initial division, perhaps during the process called crossing over, or during the time that the sperm and egg were combining, two tiny pieces of chromosomes 1 and 15 broke off.


They then switched places. This is called a balanced reciprocal translocation. All of the genetic information was still there-- it was just in the wrong place.



What effect did this have on Jeremy? Absolutely no effect, that's what. We had no idea, in fact, that he had anything different about his DNA at all until we had Connor.

So here's the deal. Jeremy's sperm go through meiosis. Remember he has two copies of chromosomes 1 and 15-- one with the error, and one without. So what happens is that as the sperm cells divide, they can end up with one of four different combinations of those two chromosomes:

Sperm 1: Has two normal chromosomes.

Sperm 2: Has two abnormal chromosomes.

Sperm 3: Has a normal chromosome 1 and an abnormal chromosome 15

Sperm 4: Has an abnormal chromosome 1 and a normal chromosome 15

So what happens in each of these scenarios when these sperm meet with an egg containing normal chromosomes?

Sperm 1 + Egg = A completely normal pair of chromosomes on both 1 and 15. This baby would have no genetic issues and could not pass on any issues to his or her children.

Sperm 2 + Egg = Another balanced reciprocal translocation. This baby would have all of the genetic information there and be unaffected just like his or her father, but would also run into the same issues when it's time for baby making as dear old dad had to deal with.

Sperm 3 + Egg = Uh oh. Here's where we start running into trouble. Because only one of the abnormal chromosomes was passed on, this baby has an extra bit of chromosome 1, and is missing a piece of chromosome 15. This is called an unbalanced translocation. Not all of the information that's needed is there, and some of the information is copied too many times. This leads to all kinds of problems, depending on what information is missing and copied.

Sperm 4 + Egg = Uh oh again. This baby is missing information on chromosome 1 and has too much of chromosome 15. This is what Connor has, and is the cause of all of his birth defects-- key "instructions" for his development were missing or altered from what they should have looked like.

So with that complicated explanation out of the way, lets break down that whole long mess I listed up there at the top. We can take it piece by piece.

submicroscopic: Connor's genetic issues are so small you can't see them under a microscope or with regular genetic tests. We had to use a special test to find the issues.

subtelomeric: This talks about the general location of the issues. The ends of the chromosomes are called the telomeres, so 'subtelomeric' means that Connor's deletion and duplication are right at the very ends of the chromosomes, instead of being somewhere in the middle.

unbalanced: Not all of the information that's supposed to be there is there, or too much is there.

translocation: Pieces of the chromosomes have switched places.

Okay, here's where we get into the really technical mumbo-jumbo

46: This is the number of chromosomes Connor has.

XY: This means Connor is a boy, with one X chromosome and one Y chromosome.

der: This stands for derivative chromosome. Basically it means a chromosome that is abnormally formed of two pieces of different chromosomes.

(1): This means that chromosome 1 is the derivative chromosome, or as I like to call it, the "Frankenstein" chromosome.

(1; 15): These are the two chromosomes that are affected by the unbalanced translocation. The one with the deletion is listed first, and the one with the duplication is second.

(q42; q26.2): This is giving a specific "address" for the unbalanced translocation. A little explanation:

Each chromosome has two "arms"-- the long arm is the 'q' arm and the short arm is the 'p' arm. The chromosomes are further divided into cytogenic bands-- lines on the chromosomes that appear using certain stains and are numbered. The further away from the center of the chromosome, or centromere, they are, the higher the number. Each band is also divided into sub bands, and sub sub bands. Complicated, no? The chromosomes are numbered from longest to shortest, so while the 'q' arm, or long arm of chromosome 1 has four bands, the q arm of chromosome 15 only has 2. What (q42; q26.2) means, then, is that Connor has a deletion of the long arm, or q arm, of chromosome 1 from band 4 sub band 2 to the end, or telomere, and a duplication of the q arm of chromosome 15 from band 2 sub band 6 sub sub band 2 to the telomere.

Hence, submicroscopic subtelomeric unbalanced translocation der t(1)(1;15)(q42;q26.2) Whew!

So in addition to all of the different birth defects caused by Connor's genetic condition, he also has what are called dysmorphic features. Now, while having one or two of these doesn't mean that your child has a genetic condition, if you take them all together it may mean it's more likely they have one. Every different chromosomal disorder will have its own set of dysmorphic features, and these can be used as clues to help figure out what to test for. The geneticists are kind of like detectives-- trying to use these clues to figure out which genetic syndrome is likely. While there aren't any people we know of with Connor's exact chromosomal condition, there are enough people with similar submicroscopic 1q deletions that we now have a general idea of what those features are. I'm hoping they're slowly working towards classifying these 1q deletions as a syndrome-- hopefully a syndrome with a really short name, as then I could just say "Blah blah syndrome with a 15q duplication" instead of reciting everything. I'm tired of watching people's eyes glaze over after they make the mistake of asking me what Connor's genetic condition is called. Here are the some of the dysmorphic features Connor has that are associated with submicroscopic 1q deletions:

Epicanthal folds-- this is where a skin fold from the upper eyelid covers the inner corner of the eye. Down Syndrome is another chromosomal disorder that shares this dysmorphic feature.

Tapering fingers-- Connor's fingers are wide at the base and taper to very narrow ends.

Inset toes-- The second toe on each foot is set up higher on his foot than his other toes

Full face-- Connor probably won't ever lose those chubby little cheeks-- they're part of his genetic condition.

Thin upper lip-- Connor's upper lip is turned under and very, very thin.

Smooth philtrum-- The philtrum is the line between the nose and the mouth. Connor doesn't have one.

Smooth nasal bridge-- Connor's nasal bridge is completely flat, which gives him that cute little turned up nose.

Here are some links for you if you are looking for more information. Not all of these are free, however-- you have to belong to the medical journals to see the full text on a couple of them. I suggest making your way to your local hospital's library if you want to see more than the abstracts-- they usually have subscriptions.

About submicroscopic subtelomeric 1q deletions:

Submicroscopic subtelomeric 1qter deletions: A recognizable phenotype?

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype

There's pretty much nothing out there in regards to submicroscopic subtelomeric 15q duplications. Let me know if you find something, and I'll link it here.

Here are some support groups for rare chromosomal disorders:

National Organization For Rare Disorders

Chromosome Disorder Outreach

Unique-- The Rare Chromosome Disorder Support Group

Um, yeah. Explanation over. Finally.

~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

Medical Monday: Cardiomyopathy (Updated)

Doctor Connor is in the house! Dr. Connor declares my glasses and stethoscope to be the height of hilarity. Also he demands chocolate pudding.

Because Connor has so many conditions and I refer to them all the time without proper explanations, I figured I'd declare Mondays to be Medical Mondays from now on. I'll 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.

UPDATE: As undeniable proof that you need to get your info from the doctor and not me, a very nice person from the HCMA let me know today that you can only have LVNC or HCM-- not both as Connor's diagnosis sheet from his coordinating care doctor reads. I went back through my files and then called Connor's cardiologist for a double-check. Evidently somewhere along the line one of Connor's coordinating care doctors read LVNC with symptoms of HCM in a report from one of Connor's cardiologists and interpreted it as LVNC and HCM, which then found its way into Connor's permanant records and will now be almost impossible to change. Thanks, HCMA. Post corrected.

So that's that. Today's topic is cardiomyopathy.

I was checking out the news today online and came across an article about the Williams family. Louise and her twin daughters, Katie and Lauren all have dilated cardiomyopathy: a rare heart condition in which the heart is enlarged and weakened. I'd encourage you to stop by their website and leave some words of encouragement.

While Connor does not have dilated cardiomyopathy, he does have a very similar condition-- left ventricular noncompaction. I'm no expert on this sort of thing, but here is how it's been explained to me by several cardiologists:

The condition called left ventricular noncompaction (LVNC) is very rare and little understood. The muscle of the heart, known as myocardium, starts out during fetal development as a very spongy and spread-out material. As the heart begins to develop further, this material draws closer and closer together, becoming the dense, extremely strong muscle needed to be such an efficient pumping mechanism. With LVNC, the myocardium stays spongy, especially in the left ventricle, and so the heart is weakened and can't pump as efficiently. The difference in the heart muscle causes very deep nooks and crannies in the wall of the left ventricle, known as trabeculations. Trabeculations cause issues because blood can pool and form clots in these nooks and crannies, greatly increasing the risk of stroke. Connor takes aspirin every day to reduce the risk of this happening, and also takes another medication to help his heart pump more efficiently.

Because of how hard it has to work, Connor's left heart wall has become thicker over time. This is a condition that can cause serious problems if the thickness of the walls cuts off the blood flow in the heart. However, in Connor's case, the atrial septum-- the wall that divides the left and right ventricles of the heart-- is not becoming thicker and so he has no problems with blood flow. Other than not being able to play any contact sports or be in the military (I'm just heartbroken over that, I tell you) his heart issues shouldn't otherwise limit what he can do as long as they're well-managed.

The nature of Connor's heart defects are one reason why he is considered to have a shortened life span-- we've been told somewhere between five to fifteen years. However, most people who have been discovered with LVNC are diagnosed because they are going into heart failure, and so understandably the mortality rate is pretty high. It's likely that there are many, many people walking around with LVNC who have no symptoms and live a normal lifespan-- they just aren't ever diagnosed with LVNC and so the statistics don't reflect them. It's also likely that if Connor didn't have so many other things going on, his heart defects would never have been found, as he shows no outward symptoms at all. Besides, the doctors don't exactly have the best track record on the whole Connor-kicking-the-bucket thing. They've already declared him doomed on four previous occasions, and he's still his happy little very alive self.

Like Louise, Katie, and Lauren, Connor's heart condition cannot be fixed by surgery. If he were to have issues with his heart, he would have to have a heart transplant. He is at risk for sudden death, heart attack, congestive heart failure, and stroke. Luckily, Connor's heart thus far has caused him no problems and we hope this will be the case for a long, long time to come.

Here's some good links involving LVNC:

The Cardiomyopathy Association

The Internet Journal of Cardiovascular Research

Left Ventricular Noncompaction

Phoebe Willingham Muzzy Pediatric Molecular Cardiology Laboratory

American Heart Association: Rare Cardiomyopathies

~Jess