Tag Archives: TSC

Parenting, Tuberous Sclerosis

Medical maladies and eating strategies for the picky eater that will eat anything — sort of.

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I had a physical last week. When I got home, I announced that I only had six months to live. My parents laughed and rolled their eyes, a natural reaction from anyone that has known me for 33 years (they were there to watch Connor since Chris was working upstairs). Chris told me to stop it. He never enjoys my macabre sense of humor. I’m not allowed to play games like “What If?” or “Would You Rather?” He doesn’t like hypotheticals, where as I thrive on knowing things like, If I died, would you keep the cats or give them to my mom?  Or, would you rather be married to a donkey or smell like a port-a-potty no matter how many showers you take.

My doctor confirmed that she thinks the headaches I’ve been having are migraines — mild as far as migraines go — but still migraines.

I also took Connor to a dermatologist for a wart he’s had on his foot for some time now. One $50 co-pay and $4 for parking later, off I go to Walgreens for standard over-the-counter Compound W. Sigh. I did like the dermatologist, though. He was an old guy that put out the vibe of an old-timey pharmacist. AND he was familiar with TSC! Even though we weren’t there for anything TSC related, he saw his history and asked questions about how Connor was affected, and he was familiar with various organ involvement. It sounded like he had even been the one to diagnose people based on facial angiofibromas, who were otherwise unaware of their condition. It’s always nice to come across a medical professional that actually knows what TSC is, and that he knew about the effects beyond the dermatological made me quite happy.

In other medical news, CHOA is once again trying to give me what I now know is a migraine. We finally got the call to schedule Connor’s first visit to the keto clinic so we can consult about the modified Atkins diet for seizure control. Want to guess when the appointment is? March 18. March. 18. Lots of four letter words when I hung up. I’m still not really clear on how this is going to go. She told me the nutritionist would call me. Possibly to start the diet before that? I couldn’t get a real clear answer, though I expressed my dismay at waiting three months. She also couldn’t tell me how soon the nutritionist would call. So I think we start the diet via phone consult, which is better than waiting three months, but I sure would prefer meeting with the expert before making such a drastic change to Connor’s diet. But like I said, I’m not even sure if that’s the plan yet.

I must also accept the blame for making Connor sick this week. Connor came down with his first normal, run-of-of-the-mill illness. We’ve had seizures, brain surgery and weeks in the hospital…but not one bout of ordinary childhood illness. He woke up late Wednesday night coughing and ran a low-grade fever most of Thursday. No fever this morning, but still coughing occasionally. Fantastically, though fevers typically lower the seizure threshold, I saw no seizures during the course of battling his temperature with Tylenol and Motrin. But why my fault he’s sick? I recently blogged about his superior health and just this week, I thought, man, we might just make it to his second birthday with no viruses! My bad, buddy. I know better. I’ve been sleeping on the floor next to his crib the last couple nights because it makes me feel better mentally — my hips hate me though. Chris would have done it, but Connor doesn’t tolerate snoring.

So it has been a lot of lying around and sleeping, along with more PBS than usual. If I see this Mouse King episode of Super Why one more time, I will scream.

Progress in the eating arena:

On the bright side, it appears we are making progress in the eating arena. His speech therapist has been providing tools to work on his sensory issues with his mouth. He does not appear to have any other sensory issues whatsoever, but try getting him to use a sippy cup or eat food with no degree of pureeing has been about as fun as…as…as trying to make an appointment for anything at CHOA. To eat non-pureed food, it had to be cut extraordinarily small and he would eat in very limited quantities. But this week has been far more successful at getting him to drink from this cut-out cup (which allows me to see how much he’s getting, as well as prevent it from hitting his face making him buck away).

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He also ate this whole serving of mac-n-cheese. Just a couple weeks ago, I had to cut the pasta up and mix bites with pureed food so he wouldn’t just store it in his cheeks like a chipmunk. But he demolished the whole thing with no mixing or cutting this week.

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He also did well with this, though he didn’t finish due to stubborness. The bites he did take, he swallowed, while before this one was almost inedible because he just built a fortress of peas and meat in his mouth.

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These are his other fancy tools:

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The blue and orange thingy can hook to his clothes or seat and its purpose is to prevent him from throwing his utensils. Unfortunately, they slide out anyway, so that’s not really helping. The purple and green spoon is bendable to work on getting him to feed himself. Angling it should aid in helping him put the food in his mouth. This is all theoretical as he shows little interest in anything other than being fed or throwing spoons. Or removing food from the spoon with his hand. The purple tool is a textured spoon to desensitize his mouth. He hated it at first, but now it doesn’t phase him. That’s a Nuk brush on the end. He hates that bad boy. It is also to desensitize his mouth. Not just for eating food, but also for rubbing it around in there. The therapist added the rubber grip so he could hold it himself, I suppose not realizing that his complete and utter hatred for it means that if you actually put it in his hand, it will immediately be on the other side of the room.

Now if you’ll excuse me, he just fell asleep and I’m going to check his temperature. He’s made it pretty clear that if I stick that thing in his ear one more time, I get a Nuk brush in my eye, so cross your fingers…

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By the way, my blog is nominated for a couple of awards over at WEGO Health. Thanks to those who have endorsed me already! It’s not too late 🙂 to do it here.

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Modified Atkins Diet for Seizures, Parenting, Tuberous Sclerosis

Looks like we’re trying the modified Atkins diet.

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IMG_5584Sigh. I really hoped this wouldn’t be necessary, but the last increase in Onfi didn’t make much of a difference and we’re still at 1-4 seizures most days. I e-mailed his neuro and asked if he thought there would be any point to another increase, or should I just bite the bullet and move forward on the diet. I knew when I sent it what the answer would be since he had brought up the possibility of the ketogenic diet a few weeks ago. I was relieved that at least he thought modified Atkins was a reasonable alternative to keto. Not that I think MAD will be easy, but just the thought of keto intensely overwhelms me.

I keep reminding myself that if it works, it’s worth the extra effort, and if it doesn’t, we only do it for a few months. We”ll be meeting with a nutritionist at the CHOA keto clinic to start.

But if it doesn’t work…then what?

We’ve tried seven different medications, and even more effective cocktails only decrease seizures — they don’t stop them altogether. Sure, there are more meds we haven’t tried, but as I shared in my previous post about medical marijuana:

…less than 1% of patients who failed to respond to three anti-seizure drug regimens achieved adequate seizure control on subsequent drug treatments even though some were treated with as many as nine different drugs or drug combinations. -WebMD

I’m going to start this diet fully optimistic that it will work. Because if it doesn’t, the other options are to explore surgery again or live with the seizures. Sure would be nice to have the option of pediatric cannabis in Georgia. Please watch this clip from The Doctors in which Paige Figi explains what a miracle it has been for her daughter with Dravet Syndrome.

I am also seeking guest posts from people who are either legally using medical marijuana to treat their children, or are seeking it’s use — possibly entailing a move to another state. E-mail pin.the.map@gmail.com.

Petition for legalization of medical marijuana in Georgia.

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Ordinary Life, Parenting, Weight loss

I’m turning into such a slob.

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The write-from-home, stay-at-home mom thing is making me really lazy. If you had told me in my teaching days that I’d let my gray roots get so far before taking action or equate getting dressed to climbing Mt. Kilimanjaro or stretch out the months between haircuts to such an extreme, I wouldn’t have believed you. And yet, I maintain my love of clothes shopping, despite the fact that I’m too sluggish to put them on anywhere but a dressing room.

I also realized I need to pull myself out of a clothes rut:

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But I did finally get a haircut:

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The first thing my stylist said was, “Somebody’s been playing with color!” Sigh. Yes. Once again I’ve managed to start unintentionally turning my hair black with Nice ‘n Easy. Unfortunately, it just ain’t in the budget to do it professionally all the time. Especially since we have to pay off the hit we took when our old house under appraised, finish painting the new house, and — come hell or high water — we’re going on vacations again in 2014. We’ve gone on trips — that’s what you call it when you take the kid — but we are going on vacations –what you call it when you drop the kids off at Grandma and Grandpa’s and outrun them back to the car. And just Friday I received the exciting news that one of my good friends is engaged and I will likely be attending a wedding overseas in about a year!

Looks like I reloaded my Fitness Pal App just in time. I’ve been inputting my food intake for a week now to track my calories. I think it will really help this time since I find myself genuinely debating the merits of one Oreo cookie vs. two pieces of leftover Halloween candy. I started this right before the holidays because I really like a challenge. Also, I’m tackling my weight loss with a very specific strategy:

IMG_5723But here I’ve gone on and on about me when I know pretty well most — okay fine — all of you really only care about Connor, so…

Here he is relaxing with a puzzle:

IMG_5730To be clear, he only likes taking them apart and throwing the pieces everywhere.

This is what happens when I get up in his business about his molars:

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And this pictures really doesn’t do justice to how much it hurt, right on the bone. And he wouldn’t let go. I almost panicked and smacked him, but refrained. I now know I will perform poorly in the event of an attack by a dog — or alligator. I believe the recommendation is to push toward the animal, not to pull away. Fail. Also, the state of my nails is not indicative of my current state of laziness. I’ve always been too lazy for mani/pedis. I regard them as annoying appointments to keep, like doctors. Random side story, though you can’t really tell in the picture, that nail is totally deformed from the time I slammed it in a car door when I was 15. It grows warped and downward the longer it gets, kind of like the creepy Guinness World Record keeper with the longest fingernails. But there I go about me again.

Go check out this page created for epilepsy awareness by a man who lost his young wife to epilepsy. He has been sharing people’s epilepsy stories all month for Epilepsy Awareness Month. He also makes these to share:

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For those that might be confused, I don’t know if there is an Abigail, Ga — that was a misunderstanding — and my aforementioned laziness precludes me from Googling it. But these are pretty awesome. Check out his gallery of E-heros!

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Parenting, Tuberous Sclerosis

How I Do This.

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…as long as he cares that I’m there. Maybe not like David, newly adopted, possessive. But he looks for me at swimming, tearful, crawls up and grabs my legs, clutches my face with his wolverine claws, clings to the gate demanding I come get him. Maybe he doesn’t call me mama yet, or reach for me when someone else takes him. But if someone else has him and he’s fussing–sometimes…sometimes if I take him he stops.

Sometimes when I have something to blog, I jot it down on my phone’s notepad to remember it for later. But sometimes I jot it down somewhere else and forget about it. I just found this on my laptop. It must have been written this summer, since I mention a mild jealousy that my friends’ newly adopted son showed more outward attachment to them than we necessarily saw from Connor. It made me feel good to read this today because it helps me remember that he is continually progressing, the details of which can be missed when you’re with him every day. Still no “mama” per se, but he does think I’m increasingly awesome, so maybe when he just goes on with his muhmuhmuhmuhmuhmuh, he actually IS referring to me, but I’m far too great for just two syllables.

His attachment now borders on problematic. I have to hide from him during aquatic therapy so he doesn’t watch me and cry for me the whole time. The first time after I moved he kept looking for me in my usual spot. He chases me around the kitchen island and has nearly taken me out multiple times getting under my feet. He has sibling rivalry with the dishwasher because when I’m emptying or filling it, I am unable to pick him up. Sometimes he throws his drink around until I sit down with him and let him drink it on my lap. The last two times we left him with my parents, he wouldn’t eat until we got home. It’s a problem I love to have (minus the eating–sure hope that resolves before we take some long-awaited, adults-only trips next year). He pulls himself up at the kitchen table or couch — wherever we might be sitting — and does not like to be left alone in the playroom out of sight.

And he reaches out for me. He reaches out for me.

People ask, how do you do this? That’s how.

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Parenting, Tuberous Sclerosis

Guest Post – Mixed Up Mommy

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kenlininger's avatarSavanna's Journey

Infantile Spasms are not diagnosed early in many cases due to a lack of knowledge, even by physicians.  I am not putting any blame on physicians, but the fact is that this is so rare, most practicing pediatricians simply won’t even see a case in their career.  Parents are almost always blindsided by such a diagnosis.  In some cases, a family has warning of a symptomatic onset of this epilepsy.  All scientific evidence indicates early diagnosis and aggressive treatment gives the patient the best chance at the not only stopping the seizures, but the best developmental outcome as well.

The only thing I have obsessed over more than my son’s tuberous sclerosis complex diagnosis was the possible onset of infantile spasms. Since we had Connor’s diagnosis shortly after birth, we were in an uncommon position of knowing to be on the lookout for this rare and catastrophic seizure type. We…

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Parenting, Tuberous Sclerosis

A mommy fail and cognitive growth

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I was on such a high yesterday about Connor climbing the stairs that I could have been the mayor of Toronto. Of course, this morning brought the sobering (though still awesome) reality of this development. I thought I had secured him this morning when I ran upstairs to get something. I stayed for a couple minutes talking to Chris about his progress painting the master bedroom, then opened the bedroom door only to find a toddler charging at me from the top of the stairs. It appears I failed to secure him properly and he followed me up the steps. Bad mommy.

Problem is that we actually tried installing a gate at the top of the steps but it didn’t really go so well as it is wedged between two bannisters and no wall. Same at the bottom. The bannisters just sort of start to push outwards as the door is tightened and doesn’t seem particularly safe, so we will just have to be sure to secure him away from the stairs all together.

But in all my excitement about his motor development, I forgot to talk about his cognitive development. I think I did mention how excited I was when I asked him if he wanted to read his favorite book and he crawled into the play room straight to it. But I have also seen an unbelievable change in his ability to manipulate apps on the iPad. We have several that we downloaded a long time ago at the suggestion of his therapists to teach him cause and effect, but he really just banged on the screen as we tried to help him manipulate them.

He did best with this one, Baby Piano, as it actually does respond well to random banging. In the last couple weeks he has had a renewed interest in it with more careful tapping of the keys.IMG_5615

He also figured out how to manipulate Peekaboo Barn independently. It’s pretty basic, just tap the barn door to open it and a new animal appears each time making sounds. But I could see that he was actually waiting to see what animal  would appear inside instead of just hitting the screen.

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A more recent download is the Crayola App which allows him to use his finger to color. He just has to touch it to make the colors appear, and I only helped him as far as changing colors for him. And he seemed to notice that I was changing the colors.

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But this was the one that blew my mind. During the IFSP meeting this week, his speech therapist put Itsy Bitsy Spider on for him. We hadn’t used that one with him in a long time as it’s slightly more involved with moving characters and multiple places to tap to make things happen. I’d never seen him use it very productively. We either guided his hand or he banged randomly. Without even having seen it  for weeks and weeks, he began to carefully watch the spider and tap it at opportune times to make it interact. I could barely concentrate on the meeting I was so shocked.

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I had a really vivid dream last night that he started talking. Maybe it was a premonition 🙂

Parenting, Tuberous Sclerosis

Connor climbed up the stairs!

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Connor climbed up the stairs this morning! I almost had a heart attack. It came out of nowhere as we only just introduced it in PT last week. We hadn’t even really worked on it yet. Sure, he goes over to the stairs and props himself up with his arms on the step. He’d even managed to go up one with assistance. But today I was on my computer and I glanced over to the stairs and there he was on the second step. I gasped and ran to the bottom in case he fell, but he just kept going. I did a whisper yell to get Chris out of his office, but not wanting to startle Connor or stop him. He would have gone all the way to the top but Chris stopped him since we are painting (ahem, correction, he is painting) the bedroom and there is stuff all over.

Just this week we had his IFSP meeting with his early intervention team to check his progress and set new goals. His physical therapy goal he was to have met by now, set based on the speed with which he met previous goals, was to be sitting independently with hands free for play. Instead he surpassed that and started crawling, pulling to stand and cruising. And now climbing the stairs!

Here is video of a repeat performance.

I’m wigging out like I just did 27 espresso shots.

Parenting, Tuberous Sclerosis

Five months of great progress!

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Connor’s first year was such slow development that I still can’t wrap my head around the last few months. I mean I vividly remember obsessing over him just lifting his head. It took forever. He sat somewhat independently around my birthday in October of 2012, and I thought here we go! But it was months before he could sustain it comfortably on his own. We put our old house on the market at the beginning of June this year. I vividly remember that his crib was still in the raised position as there was no worry that he would fall out. He could sit well, but couldn’t get into sitting on his own. It all started when he finally chose to roll from back to front. He went the other way on time, but refused to CHOOSE tummy time, leaving himself immobile. Since June 1, he

mastered pulling up to sit

become mobile through rolling and scooting

added consonants to his babbling

learned to crawl

pulled to stand

started cruising furniture

has shown recognition of more words

has become very (too) opinionated

and initiated his first game of peekaboo

Exponential progress.

His physical therapist almost cried when she saw him cruise. She had been away for a couple weeks as her granddaughter was having cancer surgery at CHOP for ganglioneuroblastoma. Ain’t life grand for our kids. Don’t worry. I’m aborting my angry Where’s God diatribe. (Side note: She said CHOP is the best for this surgery and they went in thinking they would be able to get 50%. They think they got over 90%!)

Cover of "Click, Clack, Moo: Cows That Ty...
Cover of Click, Clack, Moo: Cows That Type

He shows definite favorites in books — his two favorites are Click Clack Moo and Hand Hand Fingers Thumb. If I start reading from them, he comes crawling over. The other day I asked him if he wanted to read Click Clack Moo and he crawled out of the family room into the playroom to it and looked up at me expectantly (after a brief scrunched face short cry because we startled him with our enthusiasm).

I’ve given up trying to get the detailed results about his MRI from Boston. We got the standard report of no growth, but we were supposed to finally get details on number of tubers and locations so we can target potential deficits etc. But as no one ever gets back to me when I leave messages regarding that particular report, I guess we have to wait until we go for our next TSC study visit in February or March when we will schedule a visit at the clinic. Not very happy about that.

Connor still refuses to feed himself, and when we give him finger foods, he just destroys them. We’ve tried cracker type food items, but he crushes them, so his physical therapist suggested beef jerky. It’s easy for him to hold and he might like the taste. And wouldn’t you know, he sucked on that Slim Jim a couple times and bit it into pieces. He only swallowed one piece, and that was by accident, but still progress. Slim. Jims. If you had told me I would be feeding my toddler Slim Jims…

He also still won’t get off the bottle, which we think is another one of his stubborn things, kind of like refusing to roll over. His speech therapist has been pushing a straw with a squeeze bottle, since sippy cups get swatted across the room. He actually let me put the straw in his mouth without fighting me yesterday for the first time. Maybe we’ll get rid of these bottles some day after all.

I learned a valuable parenting lesson last week when we went to the North Georgia mountains with my parents. While we have had to deal with crazy TSC stuff, as far as the normal baby health issues are concerned, Connor has never really had any issues. He’s barely even had a cold. Well, last weekend we had a major bout of constipation. I never understood what the big deal was. They go eventually right? Give them some prune juice or whatever. My bad. Sorry about the flippant attitude. Almost two days of fussing and irritability. He went an entire day with no food or drink whatsoever. It wasn’t until the next morning when he willingly took his meds that I had the brilliant idea to give him milk, water and juice with the oral syringe. My mom shook her head at one point and said, “When people ask what we did this weekend I can tell them we waited for Connor to poop.” And so I deemed the weekend PoopWatch 2013. I’ll spare you further details, and only say that a couple days later I was looking for a cork.

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Toys are for chumps.

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Let me out! I promise not to try and make a break for the woods again!

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New cabinets to explore.

Our trip to the pumpkin patch a couple weeks ago:

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Please click on the Top Mommy Blogs icon to the right so I can move back up in the rankings!

Parenting, Things to Do Around Atlanta, Tuberous Sclerosis

Another milestone! And costume problems…

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Last night Connor cruised the furniture for the first time! He took three side steps to move down the couch, and a little later, got up and did five in a row. I’m itching for him to walk! My back needs it for one. All his doctors concur that he’s right around the 27-pound mark, but apparently they all buy same defective brand of scale because I can tell you he weighs 80. There will be so many more places that we can go to fill our days. I mean, we have fun at the zoo and Tanglewood Farms, but it’s a bit of a work out. A few more months and I’ll be much more excited to receive invites to bouncy house parties because I won’t find myself facedown suffocating in the corner of a castle, being trampled by toddlers. We’ll probably go broke from me buying season passes to everything in a 50-mile radius.

Last week, Chris had to go to NYC for the day for a business meeting. He happened to stumble upon the taping of the Today Show — the last hour with Kathie and Hoda. They pre-tape Friday’s show on Thursday, and that is the episode you can see him wandering around the back, texting me to ask if he’s on TV and poking his head in to see what’s going on. It’s pretty funny. Here are some stills (yellow tie and briefcase strap criss-crossed):

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We had a busy weekend. Saturday, Chris and I made the day trip to Birmingham for the TS Alliance regional conference. I took this picture at the Alabama welcome center because it gave me the warm fuzzies.

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We got to hear about the latest in clinical studies, surgical techniques and dealing with schools and IEPs — having been on the other side of IEPs as a regular ed teacher, I dread the possibility Connor could need an IEP. Let’s say I’m just a little jaded in that area, having seen first hand what happens when the law requires schools to provide a “free and appropriate education” but doesn’t provide funding or support. Fingers crossed he won’t, but we have to be prepared for the possibilities. The reality is he will most likely start school with one, given his delays. It’s unlikely by pre-k that I won’t feel he needs one, but I can still hope that won’t always be the case. Only time will tell.

My parents got to spend the whole day with Connor from waking up until almost bed time. Everyone survived so I’m booking a trip to the Caribbean.

On Sunday, we met up with the Cruz’s and the Weathersby’s for Boo at the Zoo. We had two pirates, a monkey and a cow. The cow was SUPPOSED to be Cookie Monster, but the manufacturer and I have a serious difference of opinion on what constitutes a 2T. We had to make a last minute dash to Target on the way for a new costume, where we very nearly added a third pirate to our crew.

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I wasn’t really sure how the zoo would go with Connor, being that he doesn’t walk yet, and while he loves animals, I wasn’t confident that the distance between him and the zoo animals would intrigue him. For the most part I was right. But the one place I thought he’d be least interested was one of the best. He loved the aviary because every few minutes the birds would all swoop the enclosure together, which he found hilarious as they whirred past his head. He perked up again at the petting zoo, but getting him to look off into the distance to spot the gorillas and giraffes just wasn’t happening.

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Zoo Atlanta also put up a tent with a costumed dj, furry dancing animals and loud music. Babies first rave.

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This is what happens when you want a picture of all four boys together:

Where's David? Catch him!
Where’s David? Catch him!
Look at you? Ain't nobody got for that.
Look at you? Ain’t nobody got time for that.
Next time I'll bring duct tape.
Next time I’ll bring duct tape.

Afterward we picked up food and went back to eat at the Cruz’s where Connor continued his doggy guilt trip on us by expressing his extreme delight over their dog Bacchus. And it was super adorable when David, who is one day older and fully mobile, got down on his knees to crawl along with Connor.

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