Tag Archives: tubers

A New Diagnosis

When I fill out medical forms that ask me for Connor’s diagnoses, I write tuberous sclerosis complex, epilepsy and developmental delay. As of Friday, I will now write autism

When Connor was first diagnosed and we read all the possibilities that could possibly come with TSC, autism terrified me the most. I really didn’t understand it. I’d worked with kids with varying degrees of autism in the classroom, some of whom I was not remotely equipped or provided the training to work with and others that were favorites of mine. But I was terrified of the word. I thought that if the day came that we received that diagnosis, I would jump out of a window.

Two years changes a lot.

I can’t say it came as a total surprise. I refer to some of Connor’s behaviors as “quirks.” I guess I was just hoping they could stay “quirks” and not become a diagnosis.

We went to Boston for his two-year visit with the TSC study. It was a low key visit since Chris and I had both caught Connor’s cold from the week before and were not particularly energetic (and why I didn’t get in touch, Ann–we’ll be back next Feb!). We also had an appointment with the Boston TSC Clinic. Even though I suspected deep down that this day was coming, I didn’t actually realize it would be Friday. The study had sent his results from the autism scale given the day before to the doctor. The words “Connor has autism” were never actually spoken. We were discussing some of his behaviors and suddenly we were talking about therapy options in addition to what he already receives. An education specialist was brought in so she could help us find local resources and I found myself saying, “So this is it? Is this an official diagnosis?” It was. But the sooner the better and we now move forward.

We also finally got a little more detail on his MRI. It wasn’t as specific as I was hoping for, but we do now know his brain has somewhere around 20-30 tubers, probably closer to 20. They are scattered throughout. I thought he had two SENs in the ventricles of the brain, but he actually has three. However, they are so small that they are nowhere near being classified as a SEGA (which can block fluid in the brain and require either surgical intervention or use of Afinitor or Rapamune) and therefore aren’t currently an issue (and hopefully never will be).

I’m sad that we only have one visit left with the Boston study. I really enjoy going up there. I think I could actually live in that city in spite of the cold and that says A LOT. I was really touched by the fact that while we were there, non-stop coverage was being given to the deaths of two firefighters and who they were. It gave the city a close knit feeling and reflected a genuine interest in the loss of two heroes. It’s not something I’ve ever seen in the 20+ years I’ve been in Atlanta, where we just get the 6 p.m. death count.

These are the only photos I took which tells you how off I was this trip.

First big boy flight with his own seat. On the way back we were told we couldn't use this seat because it wasn't airline compliant. Gotta love consistency.
First big boy flight with his own seat. On the way back we were told we couldn’t use this seat because it wasn’t airline compliant. Gotta love consistency.

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Connor loved the noisy geese.
Connor loved the noisy geese.

Happy Birthday, Little Man!

Two years ago at this time I had no idea how much my life was about to change. I mean, I had some idea considering I gave birth just a few hours prior after a spectacular epidural after checking in the night before to be induced as a precaution related to findings on the ultrasound.

Right now, two years ago around noon, Connor was off being checked out. He was having the ordinary newborn exams, but he also had a cardiac exam by a specialist due the abnormalities found in his heart ten weeks earlier. They had never grown or become problematic, so by the time ten weeks went by, Chris and I thought it was some flukey thing that would require monitoring, but nothing more.

I did not know that in a few hours Connor would begin seizing, or that he wouldn’t go home for 37 more days.

I did not know we would be returning for brain surgery in four months.

I did not know he would develop infantile spasms in five months.

I did not know he would be developmentally delayed.

I did not know that as I had walked around for the first 30 weeks thinking, “lucky me! No morning sickness!” that chromosome 16 had mutated right away resulting in the later development of heart rhabodomyomas and brain tubers.

I did not know what tuberous sclerosis complex was.

What I know now is that Connor is awesome and funny, loves books and is the coolest, most adorable two-year-old on Earth.

HAPPY BIRTHDAY, MONKEY! YOU ARE KICKING TSC BUTT!

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It would be easier to come up with titles if I could stay on topic…

I love a good sunburn with such ridiculous lines, that most of my wardrobe will fail to hide my stupidity. But rather than take responsibility for my failure to apply sunscreen anywhere but my face, I will instead blame the organizers of the annual Miller Lite Chili Cookoff for moving it from the tree-filled shady location at Stone Mountain Park to the the black asphalt parking lots of Georgia International Horse Park in Conyers. No trees. Just asphalt. I will give them credit for a larger space that made it easier to walk around, but I’ll push people out of the way if it means the return to the sheltered haven by the park.

We like to go every year, but we missed last year–the final year at Stone Mountain–for a most hilarious reason. My mom went to the ER. Yes, I just referred to my mom going to the ER as hilarious. You read that right. Ok, it wasn’t hilarious at the time–at least not for a few hours–but it’s an interesting story. It had been a stressful few months with Connor’s time in the NICU and diagnosis, and that morning, another stressful issue (nothing to do with Connor or us) came to light. I called and talked to my mom about it that morning. About an hour and a half later, we arrived at my parent’s house to drop Connor off. This was the first time we had ever come over that my mom didn’t come out to meet us at the car (something I often like to point out she never did when it was just me coming over). When she finally came downstairs, she looked surprised to see us. “What are you doing here?” I thought she was joking. I reminded her they were babysitting while we went to the cook off. “Did I know about this?” she asked, confused.

Forgetting Connor was coming over? Yeah right. Something is weird. She usually only blocks out memories that involve me as a teenager. She looks at Connor and says, “Oh, aren’t you cute,” in a way that indicates this is some random baby mysteriously propped in a chair in her sunroom. My dad and I look at each other. Then she asks why we’re there again. And when we answer her, she clearly doesn’t remember that we just told her. She also can’t remember what she had for breakfast, where they went for breakfast or what neighbors they ran into while they were there. She’s asking the same questions over and over, and clearly isn’t forming any new memories. And me? Great. I realize when I called her that morning I gave my mom a freakin’ stroke.

So rather than downing 900 samples of chili, we head to the ER. My mom keeps asking us the same questions over and over. She’s on a repetitive loop. Then she declares, “I’ve had a stroke! Self-diagnosis for you!” She repeated that roughly 647 times by the time we reached the hospital, and thought she was figuring it out for the first time every time. Once we reached the hospital, since she wasn’t able to retain new memories, she kept thinking she just woke up there and continued asking the same questions. It was the weirdest thing because she was looping like a tape recorder. Same comments and questions, same intonations, same jokes. Blood pressure was off the charts. Scans, an MRI, and a few hours of me battling the urge to video this insanity with my phone, and they come back with an answer. No stroke. In fact, everything looks great. Diagnosis: transient global amnesia. Lasts roughly 24-hours and can be caused by a stressful event. She will completely recover, and it is unlikely to reoccur. It is also extremely rare. Yay us and our predilection for weird rare medical crap. It’s particularly weird because though you forget a big chunk of time and events, you don’t forget the basics, who you are and the basics of your life. So sadly, I was unsuccessful in convincing her she had promised to gift us $25,000 and turn over the keys to her ’66 Mustang.

So then the rest of the day could be spent repeating what was wrong with her when she would ask every three minutes. “Well that will teach you to call and give me bad news again!” I heard that 87 times before we left the hospital. At this point I was embracing the hilarity of the situation since I knew I hadn’t caused irreversible damage to my mother’s head. Regrettably, I did not record her at all. Though you can find YouTube videos of other people with this, and they pretty much sound the same. Hilarious that is. Especially hilarious, since she was going home with my dad who would have to field the questions for the next several hours. I did write a bunch of stuff down in a notebook though so my dad could tell her to read it when she looped.

Some people will do anything to get out of babysitting.

We’re pretty settled in the new house at this point. The dining room is still a mess, but pretty much everything else is in place. Chris has informed me he will not be meeting my two-month deadline to paint the entire house. He seems to think a year is more appropriate estimate for completing all the rooms. “But Becky,” as my friend Cat said, shaking her head “you stay home. Can’t you paint?” HAHAHAHAHAHAHAHAHAHA! Have you met my husband? I paint like I vacuum, it would seem. Willy nilly without leaving straight lines. I am but a hander-upper of necessary supplies.

Connor now has his very own playroom downstairs. It is chock full of fun and goodies for him, and secured so I can get stuff done. So what does he do?

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How am I supposed to get stuff done when he looks at me like that?!

Then his favorite toy, his jumperoo, finally gave out after extended use past the weight limit. It was a sad day. This is how he uses it now:

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I also decided the room I initially chose to be his was too small, so Chris got the honor of disassembling the crib again to move it. I’m delightful to live with.

Connor recently had a 30-minute EEG at his neurologist’s office, just to check in on the general state of things. Lo and behold, he actually had a seizure on it. Seizures are famous for not cooperating with EEGs, so getting one on a 30-minute test! Whoa. His neuro now believes what we have been seeing are complex-partials, pretty much what we’ve always battled, aside from infantile spasms. They are decreasing since putting him back on vigabatrin and hopefully we’ll get the just-right doses of vigabatrin and Onfi soon. He had his first ERG in quite some time on Friday. I’m not sure if he’s planning to be Miley Cyrus for Halloween or if he’s expressing his distaste for the boring peach-colored gown (where are my rockets?!).

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I’m still on my fruitless quest to get a detailed report from Boston on his MRI back in August. We have the basic results of no growth, but we’re also supposed to find out how many tubers, SENs and specific locations. So I will continue on my 9,000 phone calls quest that every person who deals with a medical issue knows so well. Why does everything have to be so hard with hospitals, pharmacies, insurance, doctors… The only doctor’s office that I feel comfortable with response time is his neurologist. But I have to play games with:

the hospital in Atlanta

now apparently the hospital in Boston (which saddens me cuz I gave them props earlier this year)

insurance

the ophthalmologist

the pediatrician

the mail order pharmacy

I hate when I like a doctor, but staff makes life hard.

My parents just adopted two kittens, and they seem even more fascinated by Connor than he is with them. And he loves kitties.

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Sunday was my birthday. A lot has happened in my 23 years. (Shut. It.) Pretty mellow affair that started with brunch with Chris and my sister-in-law Donna and dinner at my parents. It ended festively while I was in the shower that night and heard Chris yelling “Becky!” Oh my god. This is it. We’re going to the ER. Connor must be having a status seizure–something we’ve never had to deal with. I run down in my towel…nope. He vomited. Everywhere. On himself. On Chris. On the floor. On the new couch. So emergency bath time and snuggling. He was fine. Fortunately it was only once and he was perfectly fine before and after. Which makes me wonder if this is the stomach of a toddler issue or a vomit seizure. Either way, he’s great now and expending his energy on keeping me from doing vomit laundry.

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At least he’s helping spread Halloween spirit.

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If you need me, I’ll be following doctor’s order somewhere:

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My sister-in-law knows how seriously I take my health so she gave me this bracelet for my birthday:

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Happy anniversary to my parents!

Reminder:

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Informational meeting on financial planning for your special needs child this week! Wills, estate planning, a chance to ask questions, etc.

Thursday, October 10 at 7:00pm
Mount Vernon Baptist Church 850 Mt. Vernon Hwy NW Sandy Springs, GA 30327
Please RSVP to me at pin.the.map@gmail.com.

Remember when I gloated that we were done with vigabatrin? Oops.

Note: So I wrote this blog yesterday, but was unable to post it. “Why is that?” you probably didn’t ask…well, you know how Comcast never wants to come out the day you need them, or they give you a window of say, 4 to 8 p.m. and show up at 7:59? Well, try canceling your service. THAT they can do not just on time, but BEFORE you asked them to. Way to make a random burst of efficiency another aspect of your subpar business model. There is an update at the bottom from this morning. 

It was a grumpy weekend. We’ve been packing the house, getting ready to close on Friday, and I’ve not been able to summon any energy or interest in the process. Plus Connor’s seizures have been increasing. We were concerned a couple weeks ago when he had eight in a day. Then this past Thursday he had 13. Earlier this year we went a couple months with nothing! We had this beautiful period of time when we didn’t even touch our —Seizure Tracker App— What is going on? Then this happened:

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See that? Do you? 50 seizures in one day? What. The. Hell. Was. That.

A few possibilities. 1. We weaned him off Sabril (vigabatrin) a couple months ago and maybe that was a mistake? They’ve been increasing ever since. 2. Since Trileptal failed, we have been weaning him off and starting Onfi. Maybe he just hit an all time low of meds in his system as a period of time of low trileptal as we weaned and low Onfi as we started intersected.

Maybe there is still a chance Onfi will work? I hope so. We will obviously go back on vigabatrin if we have to, but I would really rather not with all the eye appts and ERGs that go along with it due to the risk to peripheral vision.

I called his neuro on Saturday when this was happening as someone is always on call. Everything always happens on weekends, doesn’t it? All those months I laid awake in fear of the onset of infantile spasms, I thought, I know they will start on a Friday night. They did. Thank God, that was how I discovered they have someone on call on the weekends. This weekend, however, it was someone covering for them, not his regular neuro or his partner that diagnosed him and also knows Connor well. He had me administer Klonipin 2x daily to get us through the weekend. I just got off the phone with Connor’s neuro and we discussed the concern of whether these could be spasm related, so I sent him the videos I was FINALLY able to get this weekend –these seizures come on so fast it has been a pain– and he went ahead and increased the Onfi.  Coincidentally we have an appointment with him tomorrow morning, so hopefully we can figure out a plan. My guess right now would be that we’ll probably give Onfi a little longer, since the seizures haven’t been AS crazy as Saturday and if we don’t see a change soon, back to vigabatrin. That’s my guess anyway. We’ll see in the morning.

I just don’t want anything setting him back. He’s doing great. He has gained so much in the last couple months. He only just started crawling and now he’s pulling to stand. Last Thursday in physical therapy we worked on showing him how to pull himself all the way up because he was only getting as far as his knees. The very next day he did it twice. And once again, we owe it to Emma Cat. His relentless pursuit of the most tolerant cat on Earth inspired him to try and get up the stairs. Getting mobile has really triggered his curiosity and he wants to get into everything. We don’t need a bunch of seizures slowing him down!

We also got his MRI results back from Boston. No growth! He has no SEGAS fortunately, and his SENs remain small. I’m waiting to receive more feedback on the tubers. Now that’s he older we should be able to get more details on the number of tubers and their precise locations. Hopefully this will help us target any potential issues he might have. For example, if he were to have one in his speech center, we would know that language development needs that much more attention.

The weekend wasn’t all bad though. My first planned event as the Chair of the TS Alliance of Atlanta/ North Georgia was Sunday. It was fun and I learned a lot about planning an event…haha. Some big lessons learned. But thanks to all who came out!

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The movers come tomorrow to get us out. We will be staying with my parents in the meantime. My plan is basically, walk in the door, hand Connor to them, go to bed, wake up when Chris has unpacked everything in the new house.

What could go wrong with that?

Update: The house is empty! I felt kind of sad to see it…our first family home 😦

We had our neurology appointment this morning. After seeing the video, he felt they were epileptic spasms, and they clearly started to surface after he was initially weaned off vigabatrin. So back to the vigabatrin we go. Oh well, anything to stop the seizures. As much as I don’t enjoy mixing the packets (why can’t this med be made stable enough to come pre-made in liquid form!) or the regular eye appointments, it’s the ERGs I really don’t want to deal with. Ugh. But you gotta do what you gotta do.

So the plan is to start that, stay on the Onfi, and once we see a difference we can start weaning him off Keppra, one of the meds he’s been on almost since birth.

Tomorrow morning I get the joy of taking Connor to a 7:40 am eye appointment. It was to be his final required eye appointment due to his vigabatrin prescription. Now I get to hand him the paperwork to start all over again.

As Adam Sandler would say, “Whoop dee doo!”

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Which is the bigger scam? Appraisals or the TSA?

The last couple weeks have been rather exhausting in good ways and bad ways. Good = trip to Boston. Bad = corrupt housing market.

Might I start by saying I hate property appraisers? I think I said that in my last post. It is still true. Despite the fact the houses by the same builder with the same floor plan have recently sold around the $200k within walking distance, our appraisal at $185,000, $20k below the agreed upon sale price will stand. We were already taking a hit from what was paid. And despite our complete makeover of the lawn from dirt to gorgeous grass, the addition of granite in the bathrooms, a thorough de-brassing of fixtures, a new water heater and a new roof, it’s still worth $25k less than it was appraised for in 2007. So dear, dear appraisers, yes, we all know you were oh so shady in your role (I say role, as banks and irresponsible buyers should not go blameless) in helping destroy our economy, and I’m so glad that you can continue to screw up people’s lives by swinging to other end of the spectrum and undervaluing everyone’s properties, as you once over valued them to line your pockets. I despise you and your industry. You have undervalued our house and taken money from us that should be going towards my child’s needs. I wish upon you a lousy life.

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Yes, we are going ahead with the move. It will hurt in the short term, but is best for the long-term. We had to heap much fertilizer on our money tree in the backyard to make it possible. Closing is in two weeks.

In brighter news, Connor is crawling like a fiend. He’s truly my child as he keeps making a move for the kitchen island wine rack and tries to steal one of my bottles. I couldn’t be prouder. He also knows that I have toys to sell stashed in the laundry room, and despite the nine kajillion toys strewn about the house, he wants  the ones in the laundry room. Emma has nearly lost her tail twice in his deadly jaws. I’m desperately trying to make him understand that bathrooms are grody mcnasty and that he should not follow us in there.

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We went to Boston last week for his third visit as part of the TSC study. He also had his annual MRI at Boston Children’s. Everything went smoothly, and I can see why Michael Jackson was hooked on propofol after an extensive period of time trying to wake Connor — not in a scary way, he just really wanted to keep sleeping. It’s waaaaaay better than my melatonin. We haven’t gotten the results yet. Hoping for no growth, of course.

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Connor’s veins continue to be elusive, proving that it isn’t just Atlanta that can’t get a vein in this kid. He always leaves looking like a retired pin cushion.

We’ve pretty much walked all over Boston at this point, so we just revisited some favorite areas.

We watched Harvard's sailing practice on the Charles River.
We watched Harvard’s sailing practice on the Charles River.

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We played with ducks in the Gardens.
We played with ducks in the Gardens.
We visited the only Curious George Store in the world at Harvard Square.
We visited the only Curious George Store in the world at Harvard Square.
Connor demonstrated that high chairs work best when you sit backward.
Connor demonstrated that high chairs work best when you sit backward.
He stole my bed.
He stole my bed.
Plane watching at Boston Logan.
Plane watching at Boston Logan.

I love going to Boston. I actually think I could live there in spite of the cold. The only negative aspect of the trip was the idiotic TSA. I’ve actually been feeling more kindly toward this waste-of-taxpayer-money organization as having a kid has miraculously made flying easier in a way. We get to skip the security line in Atlanta, they do a quick, problem-free scan of his milk, food and meds as they are oversized liquids and we get to board first. I even get to bypass the full body scanner and walk through problem free. But this time, coming home, my sixth flight with Connor, suddenly things change. They pull his diaper bag as usual due to the liquids, but this time, because of them, she tells me one of his parents must submit to a full-body pat down, as well as have their personal bag searched. Chris is already on the bench putting his shoes on, so in complete surprise, I begrudgingly volunteer to do so. Two questions: 1. What the hell does having oversized baby liquids have to do with arbitrarily patting me down and searching my purse? 2. What is the point of letting the parents choose? If we are indeed carrying a bomb, obviously the one who isn’t wired up is going to volunteer. She informs me that if I get all his stuff in 4 oz containers, I can avoid this. Hey pharmacist, I’m gonna need all Connor’s meds in a series of 4 oz bottles, please, and make it snappy! I inform her that I have flown with him six times and this is a first. No response. So apparently bottles of Enfagrow in your bag = right of government agency to stick their hands up your crotch. And they wonder why we don’t thank them for their service to this country. That and the fact that they’ve never stopped an attempted terrorist attack. That’s the job of the other passengers on the plane.

Anyway, our plan to try name brand seizure meds in hopes of better control did not work. We are now weaning off Trileptal and moving on to Onfi. His seizures have been increasing, and though they are short and he recovers quickly, he drops suddenly. He’s face planted on the floor three times now. We have to stop these before he walks. Please let Onfi be the one.

 

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Self Prescribing Some Wine for my Whine

My frustration and irritation level is way up this week. We’ve been looking at the possibility of reducing the price on our home since we’re getting so many looks, including three second looks, but no offers. Then we got the heads up that another jerk in the neighborhood is going on the market this weekend priced almost $10,000 less and with a bonus room we don’t have. So we preemptively dropped the price and are hoping for a miracle before they hit the market. And unlike the other house that went on the market in our neighborhood that is under contract despite rotten wood and a lousy yard, this one actually has great curb appeal. Oh, please let it be a brass-infested wonderland inside. And if they go under contract first and accept an offer below a certain price point, we’re screwed and stuck where we are.

We had some people view the house yesterday that reportedly loved it. Except they have a second child on the way and they want more room. I’m not real clear on why they looked at all. Stop getting my hopes up, people!

Then, to top every thing off, Connor’s neurologist called yesterday with the results of his EEG. The stupid tuber in his left occipital lobe is acting up again. It has put out spikes before, but apparently Connor is having subclinical seizures again. Those are seizures that have no outward appearance, but show up on EEG. The tuber he had removed when he was four months old was causing him to have a couple subclinicals an hour, plus a handful of clinical (ones we could see) a day. We haven’t seen any on EEG since then. Yay. Here we go again. He assured me that this was nothing like when Connor was born but he did see more than one in the eight hours. Mother F. When we started him on Trileptal, we upped the dose once per directions, but never upped the second time — per directions — since we weren’t really seeing anything anymore. So now we are upping and will have another EEG once Connor is totally off the vigabatrin.

I’m just really baffled by the whole concept of a subclinical seizure. I know what the technical definition is; I just don’t get how it affects him. Yes, I understand it’s not good to have funky brain activity, but if he shows no outward signs, how is it affecting him? Like, if I had one right now, what would it do? Does he feel something we can’t see? Connor is happy and progressing, but would he be progressing faster without them? Maybe. Or would it even matter because so many factors go into delaying a TSC kid? If by some crazy chance, someone with epilepsy reads this and has subclinicals on their EEG, if you could enlighten me to your experience…

UnknownSpeaking of progression, here is an area where he is fighting us tooth and nail. The bottle. I cannot get that kid off the nipple. He doesn’t care what style or shape the cup is  — he’d probably even drink out of Flavor Flav’s chalice — it just better have a nipple on top. The hard plastic sippy cups inspire instant anger and hurling of the container, so we tried the sippy cups that are interchangeable with his bottle. We can either have the sippy cup mouthpiece or the regular nipple. He hates this sippy cup mouthpiece a little less because it’s pliable like a nipple, but other than sticking it in his mouth a few times, he just plays with his bottle. His speech therapist gave us some things to try, but thus far, no luck. Maybe his college roommate will shame him away from it.

I mean, how much difference can there be?!
I mean, how much difference can there be?!

I leave you with a montage of Connor’s funky sleeping positions. Apparently some people have to plan their whole day around their kid’s naps. Not me!

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When you put electrodes on my head, can you see how annoying I think you are?

“Oh good. I get a day off from having crap on my head so that I can have crap on my head.”

Connor doesn’t talk, but I imagine that’s what he would have said yesterday if he could. A whole day without his cranial remolding helmet, but he ends up with electrodes and gauze everywhere. And you might think, oh, poor Mixed Up Mommy. Having to spend eight straight hours in a doctor’s office while Connor has an EEG. Actually, I’m pretty sure nobody is thinking that, but that’s okay. As long as it doesn’t involve a check-in at Scottish Rite, I’m fine.

What? No helmet today? Sweet!
What? No helmet today? Sweet!
Oh. You weren't real clear, Mommy. Thanks for nothing.
Oh. You weren’t real clear, Mommy. Thanks for nothing.

This EEG was a little more challenging now that he is mobile. There was a lot of rolling, tangling and attempts to play with cords. But considering only one electrode ever fully came off his head, and I was able to reattach it, I consider it a victory. We read some books, played, I worked on an article and we took a long nap together on his jungle mat.

The EEG was just a check-in to see how things are going since we are starting to wean him off the vigabatrin. His spasms have been controlled since last September, so we’re hoping there’s no more need. We introduced Trileptal a couple weeks ago to see if that, along with the Keppra, will knock out the complex-partials he’s been having. It seems to be helping as they have become fewer and farther between. He had none yesterday, naturally. Overall, he’s doing well in the seizure department. Even though he’s not totally free, the few he does have are 10-20 seconds of pursed lips and staring and he snaps right out of them. I think the EEG will look as normal as it can — meaning his EEG will probably never truly come back normal due to the tubers, but that’s okay as long as nothing is going on that negatively affects him.

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Aren't you going to share your Dunkin' Donuts, Mommy?
Aren’t you going to share your Dunkin’ Donuts, Mommy?

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So sweet to share your chicken noodle with the EEG machine.
So sweet to share your chicken noodle with the EEG machine.

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That's cute that you big people think you can keep my head wrapped in gauze for an entire day.
That’s cute that you big people think you can keep my head wrapped in gauze for an entire day.

An Eleven-Year-Old Takes on Capitol Hill

Day 15 of Guest Blogging for TSC Awareness Month

By guest blogger Jennifer Silva  (Prince George, Virginia)

TS walk and KD 016Most people never forget the day something tragic happens to their child.  Little did we know September 19, 2002 would put us on a never ending journey.  What started out as a normal morning that day, ended in exhausting weeks and months of the unknown.  My first child Jared was born five weeks premature, after complications of preeclampsia.  Even though he made his debut into the world much earlier than anticipated, he was the image of health.   He weighed 5 lbs and 15 ounces, with healthy lungs and heart.  He incurred a small bout with jaundice, but other than that everything was seemingly great.

On September 19, 2002, Jared was approaching 9 months old.  He played that morning, with no warning signs of what was about to happen.  Shortly after he laid down for his nap, I heard a very odd sound coming from his room.   After a few moments, I went to see what the sound was. I was in total shock at the sight in front of me.  Jared was in a full seizure, jerking about in his crib, and foaming from his mouth.   His dad was home at the time and called 911.   It seemed like an eternity, before the ambulance arrived.   That seizure lasted more than ten minutes.   Once at the hospital, doctors weren’t sure what had caused his seizure.   His cat scan revealed what was thought to be blood.  He was transferred to a larger hospital, into a PICU unit.

 An MRI was done and we were told he had bleeding on his brain.   After several days in the PICU, hospital social workers started questioning us as to what had happened to Jared.   Jared moved down to a step down unit, and things started to get weird.  We were being treated very oddly.   Jared had been at the hospital for a week, when the local sherriffs’ department showed up and said that someone at the hospital had reported a possible shaken baby case on us.  We were in total shock. Within days we were in court being asked by a judge if this had occurred.  Of course it hadn’t.  They put the poor child through a whole body x-ray to see if any broken bones had healed over from past injuries.  The case was considered unfounded, and we left the hospital with Jared after close to two weeks has passed.  The watchful eye of social services followed.

Months went by and Jared did well on his anti-seizure meds.  An MRI follow up was done, and to our surprise, the blood was still there after months.  That’s when they knew there had been a terrible mistake.  Jared had a tuber, not blood.  A little more time went on, and at Jared’s next visit, it was discovered that Jared had odd white spots on his back under a wood’s light.  That’s when the words tuberous sclerosis came up.   Of course, back then there really wasn’t that much info out on the web, and most of it was very traumatic information.

Jared went on about his childhood under the watch of his neurologist.   He did very well, with few seizures and few tubers.  As he got older things did change some.  The skin abnormalities have come out (angiofibromas, café au lait, depigmentation, some forehead plaques), and some learning problems have been noticed.   Jared did so well on the seizure side of things; he went for years without an MRI.  Everything changed on December 26, 2011.  Jared started having seizures and was rushed by ambulance to the hospital because he wasn’t breathing.    It was determined that he had strep throat and had outgrown his seizure med levels.  An MRI was done, and they found a SEGA.  The SEGA didn’t cause the seizure, but it most likely wouldn’t have been known about, if not for the seizure, until it caused problems.

Initially he was just watched, but then we saw a pediatric oncologist who ordered a new MRI.  It had been eight months since the seizure sets, and Jared had three SEGA’s by then.  He started afinitor, and as of March 2013, his SEGAs have drastically shrunk.  In June he will have a new MRI and go from there.   Jared accompanied me to the March on The Hill in 2013.  He saw how government works, and was amazed at all of it.  We have had several publications about our story recently and I am glad to see TSC getting attention.   When I took on Chair of the TS Alliance of Virginia, I knew then that I would have an uphill battle. But with a little effort change can happen.   Jared is a typical 11-year-old child now; he has some issues, but we are grateful for all the new advancements in TS world.   His father and I divorced years ago and have given Jared a large extended family.    Jared is a special child, with lots of family supporting him.

I know one day he will help out others. He helped me stuff and mail out envelopes for our Virginia Educational Meeting in June.  He said, “Wouldn’t it be great if all these people showed up to support TS?”  The world needs more caring, compassionate 11-year-olds like Jared.