Where do I start?

Where do I start?

Baby J has been diagnosed with a rare genetic condition called tuberous sclerosis.

Now that I have that out of the way, I guess I can start at the beginning. Baby J was born with a mark on her upper, inner left thigh. It sort of just looked like a white raised birth mark. Sometime down the road our pediatrician referred us to a dermatologist just to have it checked out. Between getting referred to the dermatology appointment and actually going I noticed some random white spots in different places on her body. They were pretty small and very hard to miss. One on her rib cage, another on the back of her right elbow, and another on the back of her left heel...there are more but those are some of the more obscure ones.

Two weeks ago we saw the dermatologist. Her opinion was that the white raised mark was probably just a birth mark. She was more concerned about the random white spots and referred us to the genetics center here. She said often they are nothing, but sometimes they are an indication of a genetic condition called tuberous sclerosis. That afternoon the genetics center called with our appointment time.

For the last two weeks I have tried very, very hard to not go crazy reading information online. I have only allowed myself to read the Tuberous Sclerosis Alliance homepage. I didn't want to read random scary stories so I did my best to only read this website and hope it was all for nothing.

Fast forward to Friday's appointment. We go to the children's specialty area of the hospital. We meet with a very nice genetic counselor and a very nice geneticist who specializes in pediatrics. They looked Baby J over and left the room to talk. They came back and gave us the diagnosis. With TS (or TSC for tuberous sclerosis complex to differentiate it from touret's syndrome which is often referred to as TS) there are a few different skin abnormalities that can arrise. When a patient has two of them, doctors typically feel it's enough to diagnose a patient with TSC. They felt her white birth mark and her white spots combined for this diagnosis.

Obviously I was extremely upset. Thankfully my husband was there too. I didn't absorb a whole lot of what we talked about next but the genetic counselor is more than happy to talk to me whenever I have questions. The next steps for us are for Baby J to have an MRI done to look at her brain, a kidney ultrasound, and to have blood drawn to do some genetic testing. We will also schedule an appointment with a pediatric opthamalogist.

What does this all mean and what does TSC affect? Well, we don't really know what it means right now. There is a wide spectrum of how TSC affects people. Some people have TSC so mildly that they are never diagnosed with it. Other people have tumors grow on a number of organs (eyes, kidney, brain, heart, etc) and have several developmental problems. TSC can also cause seizures. One third of cases are passed down from family while two thirds are just a random genetic mutation.

Our pediatrician called on Friday evening to check in on us. Baby J had just had her six month check up on Thursday so we had discussed what was going on and she knew how worried I was. She spoke to the geneticist after our appointment and they both agreed that Baby J seems very mildly affected at this point. The fact that she seems to be meeting her developmental milestones and has not had a seizure to date are very good signs. Right now all we can do is hope for the best and wait and see what the battery of tests show up. They are scheduled for the end of October.

I have been vaciliating between totally level headed and matter of fact about her diagnosis to totally upset and feeling constantly near tears. People live healthy lives with TSC and right now there's no reason to think Baby J will be any different. I have to keep reminding myself that Baby J isn't sick, she's still the same baby. She's had this condition since birth. She is still the same baby. Now, however, I find myself totally petrified that she's going to have a seizure and I'm not going to be there when it happens. Leaving her yesterday to go to work was probably harder than leaving her at daycare the first day. And having to continue to rehash this with people is not going well. We've decided to not tell everyone. We've begun to tell our close friends and family and part of me wants to tell more people because it feels like something that is defining my life so much right now, but it's just not the right time. We know very little about how Baby J is being affected by all this right now and if I'm going to tell everyone I'd rather have a better picture of what is going on. I feel like I'll be coming here more to get things off my chest about what's going on. I have so much more in my head but don't really know how to articulate it all right now. Everything still seems pretty surreal...