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.

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4 thoughts on “Diagnosis: Tuberous Sclerosis Complex”

  1. Thank you so much for doing this. I will be following you along this journey. My daughter-in-law did this with their pregnancy difficulties and loss of twins. It was a healing instrument that helped everyone.

    1. Hi Kadie, I’m sorry to hear but you aren’t alone. Are you on Facebook? Please join TS Mommies group. Lots of moms to offer support and answer questions. How old is your son?

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