My Journey through TSC (Tuberous Sclerosis Complex)

The story of cortny

Where do I start? My names Cortny and I was diagnosed with TSC before birth. Tuberous Sclerosis Complex is a rare multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. Born with six heart tumors in my heart, what they call leaf patches which are white patches on the skin my life has never been easy. TSC or Tuberous Sclerosis Complex has run in my family starting with my grandfather, my mother and my uncle have it aswell as my sister and myself. When I was four months old I would have the Tonic Colonic Seizures where I would fall slowly forward for a couple of seconds before gaining consciousness. From what I’ve gathered from my family I started having seizures when I was just four years old, maybe younger but it can’t be accurately determined. From there I was put on Tegretal, a seizure controlling medication. You’d think that would be the end of it, the seizures are controlled, sure. But its not TSC is so much more than that. yearly, to two year MRIs and Cat Scans to make sure that none of my orgains had any growths in them. Missing multiple school days to attend these appointments, learning difficulties? Losing friends because of my moods. Its like bi polar, you go up and up and up, and then you get mad, and then depressed and crying to just nothing and its like a cycle. It sucks when nobody understands what it feels like. I forget things that people should remember, and sometimes it takes everything out of me just to do daily things at my age. I’m almost 23.

When I was 20 I had my first child, a baby girl with beautiful blond hair, and blue eyes. I named her Mary-sue. Like me she was diagnosed with TSC before birth and an ultra sound determined that she had the heart blockages, a big worrisome tumor in the left ventricle and then a few more smaller ones. Now, age two they are slowly shrinking as she grows. Does that mean they will stay dormant? no, it doesn’t but that doesn’t stop her from growing and learning. Boy did we think we slid by all the complications when she was born. She was learning, picking up on things, her diet? Perfect. All the things a healthy 15 month old should be until the seizures came. At first we didn’t think they were seizures, she was teething at the time so we thought the pain was so bad she’d grit her gums and be okay. False, they were seizures. My baby girl was only 18 months when the doctors came back and told us that she had multiple tumors in the right side of the brain and a SEGA in the middle of the brain. A SEGA is a type of brain tumor that occurs in individuals with TSC that is … in origin, the term subependymal giant cell tumor. From there she’s been on many medications; Keppra, Phenobarbital, Topomax, Trileptal, Onfi, ClozaPAM, and emergency medication called Diastat. She’s two now, and has seizures almost everyday even with three medications that she takes twice a day and they are only getting worse. The only thing we can do is keep pushing to get her better. So let me back track a bit….. In January we gathered with the baby’s Neuro to talk about possibly plucking out the active tumors that were firing off seizures. It would be a long process that included and external EEG that lasted 3-5 days and then an Internal EEG that would last about 10-15 days. These would determine what tumors were firing seizures. So we go in for EEG and they tell us that nine months ago they were firing on the right side. They are now firing all over and they can’t do surgery because they don’t know what tumor was causing seizures. So now we are stuck, giving medication that won’t work and a little girl fighting through seizures almost everyday. As of last week we saw her neurologist again and there may be a chance to do a study using a chemical to highlight the tumors that are causing seizures. Problem is, the study is not where we live as of yet. For now we will wait, with hope that we can give some relief to my child. I’m a young, first time mother and I think since this journey I’ve grown more as a person, and a mother and I will never stop fighting for myself or her.

thank you for reading my story, if you finished this I thank you and I pray for you who may be suffering some sort of Rare disease yourself

#RareDiseaseDay. #IAMTSC