Tag Archives: tubers

So what is this thing that has changed our lives?

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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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The NICU

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.