Second Annual “Blogging for TSC Awareness Month” Day 1

by guest blogger Jennifer Carpenter (Yellowstone National Park, Wyoming)

I remember thinking to myself, “What are you talking about?” as I watched the radiologist point to the small white dots on the ultrasound image of my 25-week-old baby. She was saying something about cardiac rhabdo-something and her heart, and I was really just hearing words but not comprehending anything. Then, about 10 minutes later, a woman came in the room and introduced herself as a genetic counselor and handed me an information pamphlet from 1995, (and this was in 2012). I briefly glanced at it and saw the words “mental retardation” and “tumors”. I sat there dumbfounded while she told me that my unborn baby likely had a genetic disease called Tuberous Sclerosis and would have significant disabilities and may not be able to walk or talk. Again, I thought, “what are you talking about? Are you saying my baby will not be normal?”

I got into my car after the appointment and sat there in stunned silence. I picked up the pamphlet and for some reason started reading about the origins of the disease; how it was discovered and what happened to people that had tuberous sclerosis. “Fits” and “convulsions” and “retardation” were the descriptions used early on by doctors to describe these patients. Many of these poor people ended up in mental institutions. I thought, “Will my daughter have to be placed in a mental institution? How will I be able to take care of her? What will happen to her?” Then my cell phone rang. It was the genetics counselor that I had just spoken with. She told me that she was sorry and that while I could not get a late term abortion in California, that Colorado would allow medical terminations up to 27 weeks, if that was something I wanted to consider. Termination? I had been watching my daughter grow in my belly for nearly 7 months, watching her hands and feet take shape, her face and lips develop. How could I end the life of my daughter after all this time spent together? Had others terminated their babies with this diagnosis? Was that the right thing to do, if she was not going to have any quality of life and be completely mentally and physically disabled? Were the doctors certain that she had tuberous sclerosis? All of these questions were swirling around in my head as I drove the 2 hours home that day. Two weeks later, her diagnosis was confirmed through genetic testing. A spontaneous mutation had occurred during her development. This was to be our reality and I had no idea of what that would mean to my life or to hers.

In the end, I knew that I had to continue the journey with my beloved daughter growing inside of me. I became hell bent on understanding the disease and learning all that I could about what may happen to her. I threw away the 1995 pamphlet and discovered that there’s much more information and treatment options available today than there were in 1995. Our knowledge about the disease has come a long way in 20 years. (And shame on that genetic counselor that gave me such outdated information; they should be the experts on the latest information out there on genetic disorders, even the rare ones).

On the day she was born, I knew that I was going to fight for her. To be her voice and her advocate. I knew that, while I couldn’t change the fact that she has tuberous sclerosis and there is no cure, I could get her the best medical care possible and be aggressive and proactive with her treatments. I got her into a TSC clinic and I immediately enrolled her in research studies to help learn more about the disease and to help find a cure, (and selfishly, to have more doctors track her development and provide early identification of potential issues). It gave me some sense of control over an uncontrollable diagnosis and an unpredictable future. At least I could take comfort in that.

Today, my daughter is a beautiful, smiling 15 month old toddler. She isn’t yet walking or talking, but we are working on it. She may have significant developmental delays and may require special education and assistance, we just don’t know yet. She still has those cardiac rhabdomyomas, but they are not causing any issues and her eyes and kidneys are clear for now. She does have mild epilepsy, which is well controlled with medication. But these days I just try to focus on the person that she is becoming, rather than the diagnosis that she has. She is not tuberous sclerosis. She is my beautiful daughter Estelle, who laughs and hugs and smiles and just got two new teeth.