Tag Archives: diagnosis

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

Diagnosis: Tuberous Sclerosis Complex

Connor getting an EEG.

It’s insane to think six and a half months ago I didn’t even know what tuberous sclerosis was. Now it’s something I think about every day. In fact, I never even heard the words tuberous sclerosis until January of 2012 and even then it didn’t mean anything to me.

My husband and I went for our 30 week ultrasound with nothing but anticipation. Pregnancy had been a piece of cake. No morning sickness, or any other issues other than a few weeks of serious fatigue that prompted me to sleep 18 hours a day–so basically reliving my early-mid 20s, minus the drinking. The tech did the initial checkup and then the doctor came in. He expressed concern about an irregularity of the heart wall, but not in a panicked, this is an emergency manner. However, he did set us up to have another ultrasound the next day with a cardiac specialist. The appointment did NOT go well.

Naturally we were nervous to hear there was something strange, even if the doctor had said there was no problem with the functioning of the heart. But the next day’s appointment rattled us to the core. First, it was a new machine and nobody seemed particularly adept at using it. We felt like the guinea pigs while two middle schoolers triend to navigate a new gaming system for an hour with no feedback or information offered to us whatsoever. Had this been a routine appointment, I probably would have been laid back about it, but I was waiting to hear what might be wrong with the heart, so I was definitely not feeling very laid back. Medical vocabulary like rhabdomyoma, calcium deposits, and tuberous sclerosis were thrown out as vague possibilities. Nothing concrete enough to lead us in a particular direction. And when we asked what this meant for the baby, they weren’t quite so comforting as the perinatologist. We couldn’t even get a straight answer on if he’d be born. In the meantime, there were attempts to continue light, casual doctor/patient conversation that we were no longer interested in. When I started to cry, I was handed a box of tissues and they left the room, telling us to take as much time as we needed. We got the hell out of there.

Within a couple days we managed to get the perinatologist back on the phone and he quickly soothed our fears. Yes, the baby would be born, and the heart was functioning perfectly in spite of this oddity. I was to come back every couple weeks until the birth. As time went on, the ultrasounds showed it wasn’t growing and continued to have no effect on the heart. We relaxed. They induced me at 39.5 weeks as a precaution simply to be sure he could be checked out by the cardio team. Everything went fine. Then a few hours later, the seizures started.

We hadn’t looked much into tuberous sclerosis because it was mentioned in such a remote, vague way. But we did see it was rare. Estimates are 1 in 6,000 or about a million people world wide. So there was no way. A million people in the world? That was a fraction of the population of our city of residence, Atlanta. That was obviously not it.

Except it was.

I’m going to continue to recount our experiences up to now in the hopes that maybe this blog helps someone going through this. And perhaps in some small way to help draw attention to a disease that so few have heard of. The whole blog won’t necessarily be all about TSC because we are more than that, but obviously that will be a part of it. And it’s important that people hear about this genetic disorder because the research done to cure it can help people afflicted with many things, such as autism, obesity, certain cancers, ADHD, depression and tumors, even if they don’t have TSC because they share similar neural pathways and other sciency stuff that frankly I don’t get because I was never very adept at math and science.