Tag Archives: tubers

Ordinary Life, Parenting, Travel, Tuberous Sclerosis

You want answers? I WANT THE TRUTH! Well, good luck with that.

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December has been a tough month for blogging. I feel like I’ve been going, going, going. That’s even more than I usually feel like I’m going, going, going with a 9-month-old. It started with stressing over trying to get that confounded EEG appointment, then going down to Florida to see Chris’s parents, coming home and checking into the hospital the next day for the EEG, getting discharged in time to start all the family festivities with those that came to town, then Christmas. I was so exhausted I had to renege on plans to hang with some friends at a bar downtown. This after weeks of thinking, “man, I want to go out.” Not that I don’t go out, but I wanted to go out more like I went out pre-baby.

It didn’t help that we went from warm, sunny Florida where it was still summer, and we floated around in the backyard pool with beers in our hand, back to chilly Atlanta, where we immediately had to check in for the stay from hell at Scottish Rite.

Pics from Florida:

A snowman

A pool

A pier

A kiss

A flamingo Santa

A elf

A duck

A crane

A chris and me

So we got all nice and relaxed in time to check in for Connor’s EEG where we could promptly become stressed and agitated. We had no issues with our neurologist. He kept us informed and even let us out a day early as we’d caught several “episodes.” This is our second less than satisfactory in-patient experience. First time was after his brain surgery. The surgery part went great. We love our surgeon and we had a good experience with the surgery department. There were a few issues once we moved to his room though, the primary anger-inducing one being that the day after surgery when he started swelling, he was clearly in pain. His heart monitor kept going off because of it, but nobody ever came to check on him (or for any other alarm for that matter). Don’t get me wrong. I totally understand that every alarm is not an emergency, but as parents, when things go off repeatedly for an extended period of time, we might benefit from a little explanation of what warrants concern. Not to mention, it’s already stressful and then you’re sitting in a room with all this machinery beeping at you obnoxiously. It got to the point where in the middle of the night I just started silencing them myself (after it had been clearly established which ones were clearly unworthy of response). At any rate, we finally asked when his next round of pain meds would be. I stupidly assumed (as I am new to the medical world-my first hospital stay being Connor’s birth) that he was getting them because his skull had been drilled into and his brain resected. “Would you like him to receive pain meds?” was the response. “Ummm…yes. He’s in pain and crying.” The nurse responded, “Yes. I saw his heart rate kept going up on the monitor out there.”

Well, alrighty then. But this was before I read an article that advised to never have surgery on Fridays because weekends aren’t exactly the best staffed, so I chalked a lot of it up to that. Also, before I continue, I want to be clear that it’s not my intention to bash nurses. We’ve had great ones that were very proactive in pushing doctors that were taking their sweet time taking care of business, especially in the NICU, but it’s like any profession. Some are great, some are good, some suck. Because then there was the evening Aunt Donna watched him while we went to dinner and he pulled his IV out, spurting blood everywhere. The boy loves to yank his wires. She was left applying pressure to the bleeding spot until the nurse could return with a bandaid. Good thing it finally quit bleeding because nobody ever came back. We also couldn’t get his med schedule reestablished while we were there becaue every time shift changed, nobody had passed on that he takes them at 8 and 8, so they were coming at all crazy, inconsistent times.

So this time we were there mid-week. I do think he got more attention this time, which was funny because it was just a testing situation. But the meds were consistently late messing up his sleep schedule, sometimes more than an hour. And the most frustrating part is that I don’t want to yell at the wrong person. I don’t want to go off on the nurse, because if they are understaffed, that is not her fault. But with a lot of the stuff that doesn’t go smoothly, you just don’t know where the breakdown happened. I’m particularly uncomfortable in this area because I taught for seven years and I know what it is to have parents let you have it over things you have no control over.

But even midweek, we weren’t issue free. There was the EEG removal and shutdown I mentioned in my last entry. Then came the big one. The second night we were there I noticed Connor’s eye was red and irritated. I thought perhaps that in his rubbing and messing with his electrodes he may have gotten some glue in his eye, so I asked the nurse if there was something that could be done to soothe it. She was uncertain whether it was irritation or an infection so she wanted to check in with a doctor first. Thirteen hours later he finally got a saline flush. (And I had brought up the eye problem twice more). By then it had progressed to goopy, not opening, and him screaming like a bat out of hell when we pried it open. Sixteen hours later after more followups from me, a pediatrician checked him out. He’s still screaming and refusing to open his eyes. Seventeen hours later he got ointment and a swab to test for pinkeye. The swab would later come back negative, affirming that perhaps if he hadn’t had to wait 13 hours for an okay on a simple saline flush, that maybe he didn’t have to suffer the next few days, even after he came home, unable to see us or his toys. Here I thought being in a hospital was the optimal place to be if something like this happened. Who knew we’d have been better off at home and taking him for an emergency pediatrician appointment? Sixteen hours as a patient in a hospital. What happens if you contract MRSA? Does a limb have to fall off?

Headed home after his two-day EEG. Too bad he can't open his eyes to see his awesome hair.
Headed home after his two-day EEG. Too bad he can’t open his eyes to see his awesome hair.

I’ll end my diatribe there. But I will say that I’m the calm(er) one, always telling Chris not to burn bridges. God help any hospital that houses me should I ever lapse into a coma.

There was one thing that led me to feel grateful after this stressful stay. After we were home, a friend posted a link on Facebook  about the passing of a friend’s premie baby. I didn’t know the parents, but as I was downstairs bitching about Connor’s eye, there were parents above us in a NICU I know all too well losing their child after 77 days of life. Things can always be worse. I can’t even imagine.

As I mentioned, Connor’s eye-rolling “episodes” as I now call them did not show up on EEG as seizure activity. After another day of comparing video of his eye-rolling with simultaneous EEG activity, one correlation our neuro could find was that when Connor is awake, electrical activity from his left occipital lobe tuber spreads over the left side of the brain. When he’s sleeping it spreads all over the brain. However, when he has the eye-rolling episodes, the activity resembles what it does when he’s sleeping even though he’s awake. But it doesn’t build up into a seizure. It’s just a little quick burst of activity from the tuber (which if I understand correctly isn’t uncommon in TSC) that dies away before it builds into anything. So, for the neuro, it still doesn’t explain why his eyes move like that when he has these clusters. He is still looking into it because he’s never seen this before. I’m glad now that he didn’t okay the ambulatory EEG because the test would have been a wash without video.

Anyway, December has been so crazy I never got to do my post about decorating for Christmas, which I love. So here are some shots of our house:

B outside

B Santa

B soldiers

B train B tree

B room

And my new pride and joy: a Lego Christmas village! Put together, of course, by Chris. I don’t have the patience. Chris’s initial plan was to assemble and disassemble on an annual basis since he enjoys Legos. Several hours of construction later, that plan was out the window. I’ll explore the fake snow option next year, but after hours of work, Chris was opposed to anything that required the manhandling and moving of the parts. Very, very opposed. So Merry Christmas. I didn’t break the village!

village 3

village 7

village 6

village 5

village 4

village 2

village 1

Shots of Connor’s first Christmas in the next blog entry!

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Parenting, Tuberous Sclerosis

And the results of Connor’s EEG are….Mom is clinically insane!

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What a lovely evening. I am lying. There is a possibility we will be discharged tomorrow instead of Friday. If there is a God, he will get me out of this place. Oh, Connor’s fine. But I’m going mental. I can actually handle staying here, no problem. It’s the not having control thing that is making me completely insane. Tonight the meds came an hour and 15 minutes past his med time. By then I’d had to give in and feed him although feeding him is essential to getting the meds into him, and we’d missed the window to put him to sleep. So my baby that goes down no problem 98 percent of the time, screamed for an hour, and now continues to stir every so often and wake up to cry enough so that I have to pat him back to sleep. Just when I thought we established a firm schedule of the meds being 40 minutes late. Look, if you won’t allow me to do it, then you gotta bring them on time. And if you’re understaffed and it can’t be done, well, then you’re gonna have to let me freakin’ do it. I’ll sign a damn waiver.

So, the big news! What do we know so far? Our neurologist stopped by to talk about what he’s seen so far on the EEG. Connor has had a few episodes now which could clearly be seen on the video and the neurologist has gone over the activity that coincides with those events…and the conclusion is: Drum roll please!!!! (you better be pounding your desk at home)

Nothing. We still don’t know. Nothing is there. No seizure activity is appearing on the EEG. Everything looks good in the abnormal way the EEGs of people with TSC can look good (meaning it is normal for people with TSC to have an abnormal EEG due to the tubers, even if they are having no seizures).

WTF, baby. WTF.

Since all the activity is with the eyes he added two more electrodes right next to them to see if that changes anything. So we shall see. I suspect we will check out knowing no more than when we came in. However, we may be increasing the keppra as his episodes got shorter last time we did. And possibly going down on the klonopin (clonazepam) as that never seemed to do much.

So, I’m glad the EEG looks good, but ummm, apparently we need to work on Connor’s attitude because he rolls his eyes at me at least 50 times a day. Just kidding. I don’t know what to think.

I just scanned over what I’ve written so far and it reminds me of why I hate baby discussion forums. Everyone talks in acronyms and I got sick of having to google everything they said.

The day was otherwise exciting as the kids got a visit from the seizure dog today. Connor loves dogs. I’m bummed I wasn’t able to snap a pic of the big smiles he had when the dog came in. It makes me really want to get him one, but Chris and I both agreed they were too much work. So we had a baby instead.

seizure dog 2

seizure dog

Connor also managed to massacre the electrodes on his head today. Two factors contributed to this. One, he inherited this crazy gene from his father that makes him sweat even when it’s 20 degrees out. Two, he likes to yank on things, especially wires and hair. Once he had created a sweat lodge inside his gauze turban, it was all over. It started to unravel around 4. Previously someone had come in right away if something came loose, but this time no. I casually mentioned it to a nurse, but I guess I didn’t properly express the imminent danger of these tiny little hands. Later, Aunt Donna came to watch while we went to dinner. It was straight raggedy by then. And when we returned, I guess one of the techs had shut it off from their remote monitoring station (perhaps located in the Lost hatch?).

Just then the nurse arrived, so I addressed the elephant in the room.

“So we’re here for an EEG, and jeepers this is awkward, but there is no EEG. Does this mean I can go home and hit the Jack Daniels?”

I will say, someone was there shortly after to redo it. Shift change had just occurred. When I replied 4 o’clock to her inquiry about when this started coming off, her expression was, well, I will call it “interesting.”

Connor would rather go get a frappucino.
Connor would rather go get a frappucino.
Yup, data is looking a little questionable.
Yup, data is looking a little questionable.
I look away for 2 minutes and he's draped himself in wires and other medical material.
I look away for 2 minutes and he’s draped himself in wires and other medical material.
EEG part deux
EEG part deux
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Parenting, Tuberous Sclerosis

With what these hospitals charge, there should be a swim up bar.

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Arrrrgh! NONONONONONONO! So we requested an ambulatory (take home) 24-hour EEG from our neurologist so we could figure out what these eye rolling incidents are since they don’t seem to want to stop and they manage to dodge those office hours EEGs, but he feels given Connor’s age, that a 3-day video EEG would be better. So back to Scottish Rite we go. Ahhhhhh. Shoot me. Shoot me. Shoot me. An EEG at home by the light of the Christmas tree doesn’t seem so bad. Three days in a hospital? No. More. Hospital. I’m taking liquor and I dare the nurses to try and stop me. Please, please, don’t let them call and tell me they only have dates during the time we are supposed to be in Florida, or I’m going down there anyway and feeding myself to the 8-foot alligator that likes to sun itself outside my in-laws’ lanai.

In keeping with the theme of the day, my morning went like this. Pack up 800 pound 22 pound baby and head out for 8:30 doctor’s appointment. Mom and baby are right on time, ten minutes early actually, as we triumphantly stride up to the desk, only to be told I’m not on the schedule. Oh that’s right. The dermatologist is at 2:10. I should be checking in for my physical at my general practitioner right now. Somehow, depsite the fact that I’m starving due to “no food after midnight” I still managed to confuse the appointments. Fortunately, my doctors are only 5 minutes apart on the same road. Well, fortunate if you’re not me, frazzled and with directional dyslexia. Nonetheless, I made it but a few minutes late so I could have needles jabbed in my arm. Baby guilt once again made me get the flu shot, the second of my lifetime. I got one last year so I wouldn’t break the fetus. I got one this year so I wouldn’t break the baby. Hey, Hubby, she says you have to get one, too! Haha! I should start snotting and feeling like crap shortly. The best part is that I get to go back this afternoon to face the ladies that saw me make an ass of myself this morning.

My husband and I recently got hooked on Scrabble by my parents. We played at the previously blogged about cabin with no cable where family bonding and quality time was forced upon us. Chris purchased Scrabble at Target and we also downloaded a Scrabble app on the iPad that let’s you play an opponent or the computer. On Sunday, Chris traveled to Pittsburgh for business where he spent some time honing his skills against the computer because it’s not enough that I can’t do math. He must also destroy me in Scrabble when words are all I have. Would you believe the computer played the word “tuber”? No, really. Freakin’ “tuber”. What are the odds of that? Perhaps the same as having TSC?

Deep breath. Okay. Positive thinking. The hospital will call shortly. They will have lots of availability. They will get us in quickly. It will not interfere with our trip like the last EEG, when we had to reschedule our vacation. I believe in Santa. I should probably get to eating now…I just tried to bite the cat.

Parenting, Tuberous Sclerosis

This living one day at a time stuff is for the birds.

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It has been a nice little reprieve the last couple days not seeing any of the eye rolling incidents he’s been experiencing. But I’m not tempting you, Fate. No need to show me who is boss. I know not to celebrate good things. He could have one tomorrow or in 5 minutes, so don’t think I’m getting all cocky and thankful. I know that’s not allowed. Until the neurologist’s office called this morning to verify the  results of the EEG–no hips arrythmia and the only odd activity present is irritation from the surgery (what we already knew)–Chris and I hadn’t even acknowledged out loud the fact that we hadn’t seen any for two days. They remain a mystery until we can catch them on EEG. But the reality is that the EEG also shows a tendency to epilepsy because of the other tubers present. No seizures, just little outputs of activity as if to say, “Screw you. Did you think you’d wake up and TSC would just go away?” That’s TSC. It’s always there. You just don’t know what it will do. I totally understand those parents that enact vigilante justice when someone hurts their kid. If TSC could take human form, I’d stab it to death. Slowly. Only time will tell if epilepsy will be an ongoing battle for him.

The physical therapist came yesterday. Once again, she said he was looking really good. Very interactive, engaged, energetic and much more tolerant of being on his tummy. He’s adding more noises to his repetoire and playing with toys, all in the appropriate window of time…although he likes to push those windows to make Mommy nervous. She is thrilled, as am I, that we are weaning him off the phenobarbital. It’s pretty much the go-to seizure med for babies, but it’s a major suppressant of all activity, and longterm, is connected to cognitive issues. Connor often refuses to look his therapist in the face, even though he will make eye contact and giggle with us, because she is the mean lady that makes him work out for an hour straight. Mommy can be broken in less than hour easy. It’s kind of humorous to watch him swing his head back and forth as she tries to get him to engage with her. He’s not having it. She goes to the right, he goes to the left and vice versa. But she says this is good because he is distinguishing between people he likes and people he doesn’t. We’re really pushing him more to roll over. He can. He has. But he’d rather do this:

Where he started…
A few minutes go by…
Making a break for it!

A breakdown of his meds history:

When he came home we had to give meds 5x a day. It was hell. He was on:

Phenobarbital 2x per day 8am, 8 pm

keppra 2x per day — 8 am, 8 pm

dilantin 3x per day– 6am, 2 pm, 10 pm

I want you to seriously think about that schedule. Seriously imagine having to stop at all those times of day no matter where you are or if he’s sleepy to force him to take some crappy tasting medicine.

Then we weaned him off the dilantin.

He was only on phenobarb and keppra 2x per day for some time, but after surgery we never upped the dose again because we weren’t seeing anything.

Then the infantile spasms started, so we added Sabril (vigabatrin) and clonazepam. And now we are in the process of weaning off the phenobarb. So once we finish weaning, he will be on:

Keppra

clonazepam

Sabril

All two times a day thank God because I don’t think I can mentally handle more than that.

Parenting, Tuberous Sclerosis

Physical therapy and brain surgery

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Since Connor was diagnosed at birth as having a seizure disorder, he automatically qualified for the State of Georgia program Babies Can’t Wait. This program is great because it provides physical therapy in your home at a Medicare rate. There is a common misconception in the hospitals that it is free. It’s not, but it is typically covered by insurance. I’m guessing that misconception exists because most people’s insurance covers it. Since they charge the far more reasonable Medicare rates, I would think most insurance companies don’t make an issue of it. If we went for private therapy, we’d have to pay a co-pay, drive him there, and they would charge several hundred dollars an hour. We haven’t had to pay anything out of pocket. And if for some reason, insurance doesn’t cover it, they charge you a fraction of the Medicare rate based on your income.

ImagePhysical therapy session

Seizures can impede development because you can’t take in input during one, plus they make you sleepy, so this adds up to less alert time to learn. Connor also has somewhat low muscle tone due to his neurological condition so it takes him a little longer to master a new physical activity than the average baby. (His pediatrician says his tone has improved vastly since she first saw him and it’s not expected to have a major effect on him when he’s older). At his initial assessment, which was shortly after he turned two months, he was placed in the 0-1 month category due to head lag. This means that when pulled to a sitting position from lying down, his head fell back rather than staying even with the body. I already knew he wasn’t lifting his head on par with other babies his age, so I was very nervous. He also spent the first five weeks of life in a hospital bed which didn’t help. So the first goal we tackled in therapy were exercises that would help him strengthen neck and back muscles that would help him hold his head up. He owned a pilates ball already and I had never even tried pilates.

Besides the head, the biggest difference I noticed was how wobbly he was when holding him to my side. He didn’t hold himself as erectly as other babies, so we also worked on strengthening his core. I was pretty unnerved this whole time though. Even though nobody said this would be his case, I had come across situations in which people had such low muscle tone that they were in wheelchairs or had exceptional difficulty with physical activity.

Fortunately, we went forward with brain surgery on July 27. It was performed at Scottish Rite by Dr. Joshua Chern. Oh, we love Dr. Chern. I did not expect a neurosurgeon to have a bedside manner, but he had really blown us away when we met him in the NICU in April. Very approachable and interested in making sure we understood what would be done, as well as the risks. When he tried to show us the MRI, he was unable to retrieve it in the computer system, but instead of just giving us a quick run through so he could go on with his day, he said he’d be back in an hour because he wanted us to see exactly what needed to be done.

ImageBefore going off to surgery

ImageSurgeon marking side of head for operation

He was back in about 40 minutes, and not only had he retrieved the MRI, but during that time he had spoken with Connor’s neurologist, as well as called a colleague for consult in another part of the country. Considering I feel like I have to call various medical offices eight times any time I need something medically related done, this kind of proactive go-getting was awesome. The tuber in the right frontal lobe was plain as day and according to the EEG, responsible for 80-90 percent of the seizures. And perhaps removing it would help lessen the few that were coming from the rear left occiptal lobe. It wasn’t too deep and he was confident it wouldn’t have any long term effects on him. It’s location was in a not very vital area, it was on the surface, plus at this age the brain can compensate by using other parts of the brain instead.

A little after his four month birthday we checked in for surgery at 6 am on a Friday morning. He went back at 8 am for another MRI in the operating room and the surgery was underway by 10. My parents and Chris’s sister came to the hospital for support and as we sat at the lobby Starbucks it became apparent that Chris wasn’t talking. His nervousness was palpable. I can’t really explain why I was as calm as I was (other than that I had started back on my anxiety pills a few weeks prior :). I was the mess during the NICU and Chris kept it together. Now the roles were reversed. Although his version of being a mess is much more pleasant than mine. I was just looking forward to having some sort of resolution finally. Although I will say the backpack full of thank you notes to be written and magazines to be read didn’t get touched. I wasn’t THAT good, despite hourly calls from the OR to let us know everything was going fine.

ImageBeing wheeled out of surgery

ImageThe day after surgery

Dr. Chern came to speak with us shortly after one o’clock when they finished. Everything had gone smoothly and the plan was to keep him in ICU that night and on the seizure floor until Monday. And then Connor became a rock star.

If you couldn’t see it, you wouldn’t know he’d had brain surgery. I’m a bigger baby over a headache. Surgery? I’d probably be ringing a bell and demanding to be waited on for six months. The only time he fussed was the next day when the swelling started and you could see his face getting tight. Once we told the nurse to give him the meds regularly, he was fine (side note: we actually had to tell them to give pain meds to him. We assumed that would be automatic after drilling into his head, but apparently not). Even then, all he had was tylenol and motrin. Man, even I got percocet automatically for pushing him out.

ImageMy parents with Connor after surgery

So I spent the weekend sleeping in his room, further mastering my craft of reattaching leads to his chest that would come loose and wake me up every couple hours with their incessant beeping. I relearned what the various alarms meant and which ones I could silence myself as they received no response from anyone on duty. I also enjoyed pretending to be asleep during shift change when the two nurses would peek in and talk about how cute my baby is. And finally, on Monday he went home. We haven’t seen another complex partial since, and his motor skills picked up immediately. His head was up, his core was steadier, he began to laugh more and an already awesome personality became even more incredible. He’s currently six months, getting close to seven months, and he’s well on his way to sitting independently.

ImageBack home three days after surgery

By the way, I was nursing a  headache as I wrote this, but pushed on because my kid has made it clear I’m a big wimp.

Parenting, Tuberous Sclerosis

So what is this thing that has changed our lives?

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Image

Has someone ever pointed out a new car model to you that you’d never seen before and suddenly you saw it everywhere you went? That’s kind of how I feel about sick children. Now that we have to contend with Connor’s health issues, I feel like everywhere I look I see people with sick kids. It’s a cruel, messed up world if the countless prayer pages for children on Facebook are any indication. Not to mention the time I’ve spent in hospitals seeing other people’s children wheeled around with tubes sticking out of them or minus their hair. Sometimes I think if I’d had this awareness before I got pregnant, I never would have had a kid at all. But now that he’s here, I wouldn’t give him up for anything. I just hope there really is something better waiting for us all in the end, or I’m going to be really ticked.

So what is TSC? Tuberous sclerosis complex is a rare multi-system disease that can cause benign tumors to grow in various organs including the brain, heart, lungs, kidneys, eyes, and skin. It CAN cause retardation or learning disabilities, autism, seizures, behavior issues, OCD, ADHD, kidney issues, lung problems and skin lesions. But every individual’s course with TSC is different. There is a full range of the severely afflicted that need constant care to those who are so mildly affected they may not even know they have it until they have a child who presents more severely.

I’ve heard many describe it as walking through a minefield. It’s a pretty apt description. We basically have a long list of things that MIGHT happen. Or they might not. Seizures. Check. Been there, done that. He started having complex partials the day he was born. Although I’m thrilled to say we haven’t seen any since surgery and none were on his most recent EEG. We are currently contending with infantile spasms, a very rare form of epilepsy seen in children, although more frequent in TSC. He’s been on Sabril for about a month now which has helped considerably, but he still has 1-2 breakthrough clusters a day which are much, much milder than what he was having. These are scary though because even though he will eventually outgrow them, they have potential to be extremely damaging and cause regression. Fortunately we’ve seen none of that and he continues to progress. We’re still working with the neurologist to get these under control. I’ll go into these more in a separate entry.

But that TSC minefield I mentioned? It means that even though the spasms will eventually go away, and even though the surgery was successful, there is no guarantee for the future. Some people’s seizures go away for good, some go 2, 10, 20 years before it happens again.

Currently we’re lucky (lucky in the most screwed up sense of the word) because we’re only dealing with brain involvement. His cardiac rhabdomyoma we saw on the ultrasound cleared up by three months old. They told us it would happen by the time he was in his early teens, so we like to think that it happened so quickly is a good sign. I just wish all the organs worked that way.

His kidney and eye scans at birth came back clear. Both have been checked again in the last month and remain clear. Lung involvement is rarer in males (thank God for small favors), but can be very problematic for females (Google LAM). He also doesn’t show any signs on his skin. The eyes may show signs of TSC, but rarely affect vision (the boy will have glasses anyway thanks to his parents). But for the rest of his life he will require annual MRIs of the brain and kidney scans so that if there are any life threatening growths, they can be treated immediately with some of the amazing new medications that have come about in the last decade for TSC or by surgical intervention.

But what is causing this? Two genes have been identified so far as being involved in tuberous sclerosis. Mutation of chromosome 9, which regulates the protein hamartin, results in a diagnosis of TSC1. Mutation of chromosome 16, which regulates the growth of tuberin, results in a diagnosis of TSC2. These proteins are growth supressors in cells, and the chromosomal damage results in the growth of the tumors seen in TSC. Connor has TSC2.

Why does he have it? After meeting with a genetic counselor after his birth, the thought was that he is most likely a case of spontaneous mutation, as are the majority of cases. There was nothing in our family histories to indicate that it has been passed down. That being said, unless Chris and I undergo genetic testing, we can’t be 100 percent sure neither of us has a mild case of it. Indeed, one of us COULD be a spontaneous mutation and passed it on to him. It is a dominant gene, so if you have it, your children have a 50 percent chance of inheriting it. The degree to which the parent is affected doesn’t foreshadow the degree to which a child will be. We don’t currently plan to have any more children, so we probably won’t be tested. Chris has no desire to know, and although I’m curious, I don’t know how I would handle that information. It sure makes you analyze yourself, though. Is TSC why I’ve had anxiety since elementary school? It this why Chris makes the bed military style and is constantly angling everything in the house just so? At any rate, I’m probably forever cursed to wonder if I could have done something different. I know I didn’t DO something wrong, but the questions are there. What if I had spent the last few years eating organic? Did I expose myself to something environmental somewhere along the way?

We simply don’t know what lies ahead, so I focus on this sentence from the Mayo Clinic website: “With appropriate treatment, however, many people who have tuberous sclerosis lead full, productive lives.”

If you would like to read even more in depth about TSC, check out http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm

http://www.mayoclinic.com/health/tuberous-sclerosis/DS01032

http://tsalliance.org/index.aspx

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Parenting, Tuberous Sclerosis, Uncategorized

The NICU

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Right after birth.

It turns out that if you spend 9 months growing a baby with Oreos (along with the requisite veggies, fruits and grains of course!), even if you significantly reduce your Oreo intake for the following 6 months, you will not be able to then jump on an elliptical and resume your previous 45 minute routine. In fact, after 4 minutes, you will probably have a near death experience. Just a random observation for today.

Soooo picking up from yesterday, the seizures began around 5 or 6. We hadn’t seen him for several hours because of both the regular newborn checkup and the cardiac one. It was actually reaching a point of, “Where is my baby?” frustration. And let me say, care at Northside Hospital is excellent. Communication between floors and departments…not so much. When we started trying to locate him, nobody could find him. We were told to call this nursery, then that and he’d always already been moved. I was told to ask my nurse.  She didn’t know either. This went on for a bit, and then I heard it. Chris was downstairs trying unsuccessfully to locate him as the alarm went off alerting the floor that a baby had been taken past the boundaries. Chris couldn’t get the elevator because they were on lockdown, and then he heard a security guard mumbling into a walkie talkie, saying something that certainly alluded to a baby being missing. This was the last straw that lead to Chris’s very loud and public demand to know where Connor was. And this is when they located him and informed us of the seizures. (The alarm was a staff member accidentally passing the boundary and would happen a couple more times while we were there. No missing babies!)

I wish I had written about this at the time because the emotions are hard to recapture 6 months later. But I could barely talk out loud about it for a couple months. But as scary as it was, we were still in the mindset of, okay, they’ll get these meds going and he’ll be home in a few more days. Well, a few more days stretched into 5 long weeks as the seizures were incredibly resistant to the medication, a hallmark of TSC. He started on phenabarbitol, then Keppra was added, and by the time he left he was on Dilantin as well. But he was still having an extraordinary number of seizures a day. At least 80 a day, maybe more. Many of them were subclinical which means only an EEG can detect it. They don’t cause the outward jerking. At this point it looked like we were gonna have to go on the surgery, so he was transferred across the street to Scottish Rite. I could have carried him over, yet it involved a $1500 ambulance transfer. Thank God for insurance.

I can’t believe there was a time when it was taxing to feed him 2 ounces (due to medication induced sleepiness) considering he’s now 6 months old and wearing 12-18 month clothing.

We met with his potential surgeon Dr. Chern at Scottish Rite. At this point we were finally miraculously seeing some improvement with the meds. He was still having a number of seizures, mostly subclinical, but it was decided that the benefits of waiting to do the surgery when he was bigger outweighed the cons. It would be safer in a few months. So after 5 weeks of driving to the hospital every day, he was finally released on April 23, 2012. And I have to say my husband got me through this. He was a rock. He had his moments, but I would have lost my mind without him. Just the simple fact of having a sick child is scary enough, but on top of that it shattered that “it can’t happen to me” belief that gets many of us through life. I’m a worrier by nature. Takeoff makes me nervous and the word cancer makes my stomach turn. And yet I still fly and could improve some health habits. Now for the first time, I truly realized that anything can happen to anyone at anytime. My plane could crash. I could actually get cancer. Fortunately we had so many other family and friends there to support us through all this. So thank you to all of you.

He never exactly had issues eating, but he would be so sleepy from meds and seizures that a feeding tube was used from time to time.

Connor’s official diagnosis wouldn’t come for several weeks. That’s the genetic test confirming his TSC, but from the rhabdomyoma in the heart, and the seizures, tuberous sclerosis was the immediate thought. He subsequently had an MRI for his brain, a kidney ultrasound, and an eye exam as those are areas most commonly affected. Thank God his kidneys and eyes were clear. But clearly the brain wouldn’t be. The tubers, including the one that would be surgically removed were evident. For my next entry I will get into the specifics of what TSC is.

Breastfeeding never worked out with all that was going on, so I pumped for the next 3 months until I couldn’t take being attached to the machine anymore. But it may have been for the best considering I had to carefully time my glasses of wine around pumping. Otherwise I probably would have knocked out a bottle on a nightly basis. When I tried going online for advice, I was shocked by how harsh and nasty a lot of the hardcore breastfeeding community is. It left me with a lot of guilt when I finally quit, but I had to for my mental state. It also left me disappointed that there was yet one more way in which women can be extremely unsupportive of other women. It’s easy to judge when everything goes hunky dory according to plan, isn’t it? I still have hostility about it. But women need to know that it’s extremely common to have problems with latching, pain, lactation failure, and many other things. So NYC’s Mayor Bloomberg can stick it where the sun don’t shine.

I can’t remember if this particular EEG was 24 or 48 hours.