Second Annual “Blogging for TSC Awareness Month” Day 9

by guest blogger Jamie Perry  (Deltona, Florida)

At the end of August 2011, I found out I was pregnant with my second child. My husband Joe and I had been married for 10 years and decided to have one more child so my 3-year-old daughter would have a sibling as we didn’t want her growing up an only child. I got pregnant quickly and we were thrilled. At the end of 2011 I found out I was having a boy. I had no problems during the pregnancy and the doctors said everything looked good.

My c-section was scheduled April 18, 2012. On that day I had a beautiful 8 lb 3 oz boy and we named him Cayden George Perry. He was the most beautiful little thing and I was immediately smitten. There’s just something about that mother-son bond. I couldn’t keep my eyes off of him. The birth went smoothly and ,other than a weird red mark on his forehead, he was perfect. My husband and I asked several doctors about the red mark on his head and they would always tell us it was trauma from when he was inside of my stomach or it was a birthmark or it was a bruise. No one actually seemed to know what it was. No one seemed concerned either. Aside from the red mark on his head, he had several large white patches on his legs and arms. And again, we were told they were birthmarks.

After we got out of the hospital, we saw our regular pediatrician. We again asked about his white spots and red mark. We were told the exact same thing. Everyone felt comfortable guessing but no one could give us a definite answer. They said he was fine and we shouldn’t be worried. At 4 ½ months we figured out exactly what those ‘birthmarks’ were. As a mom, I notice everything. I noticed when I would cuddle Cayden sometimes, his body would stiffen up and he would scream out as if he were in pain. I called the pediatrician several times over the course of a week and each time I’d call, they’d tell me it was likely teething, give him Tylenol and that they didn’t feel it was necessary to see him. I told them I saw no bumps in his mouth but they insisted he was fine and I was overreacting.

After a week of dealing with this, I was extremely worried. Tylenol wasn’t helping and nobody seemed to believe me when I told them I suspected something was wrong with Cayden. I got the “you worry too much” speech from nearly everyone.  On the Sunday before Labor Day, he started having one of the episodes and I yelled for my husband to please take a closer look at him. I knew it wasn’t normal. “I think he’s having a seizure.” Those words from my husband will stick with me forever. He scooped up Cayden and took off to the ER. I got my daughter ready and we hopped in my car and followed. The ER doctor agreed with my husband that Cayden was definitely having a seizure but he didn’t know why. He was on the phone with a neurologist when the nurse came in to ask about the red mark on Cayden’s head and the white spots. We said we had asked several doctors and were told they were birthmarks. At that time, I was so confused. Why was my son having seizures? What could white spots have to do with it? A few hours later, Cayden was life-flighted to a larger hospital an hour away. The doctor felt the  white spots and the red mark were genetic markers for something called Tuberous Sclerosis, which I had never heard of. I made the mistake of looking it up online. I was terrified of what was going to happen to my little boy.

The next day, they did a full body MRI on him and confirmed the diagnosis of Tuberous Sclerosis. They mentioned a drug called Sabril that they’d order for him and they were confident it would be helpful in stopping the seizures. He spent 10 days in the hospital and while the seizures didn’t come as often, they were still happening multiple times a day. Joe and I made the choice to move his treatment to Cincinnati Children’s Hospital. From our research, this was one of the best hospitals to treat Tuberous Sclerosis. We started there at the beginning of October 2012. Much to our surprise, on our first visit there, Cayden was also diagnosed with polycystic kidney disease. It seems the old hospital, while they did do a full-body MRI, never read the results. We had brought the MRI on disc with us for the new neurologist to review and the nephrologist reviewed it as well because after taking Cayden’s blood pressure and seeing it was through the roof, he suspected PKD. My husband and I were devastated. We were just getting over the shock of Cayden being diagnosed with Tuberous Sclerosis and now this??!!! It was just so much to process. They put him on blood pressure medicine and the neurologist made some changes to the dosage of his Sabril. Even at the max dose, Cayden’s seizures still continued. And from that point, they continued another four months until a miracle happened. For four months multiple meds were tried. Nothing seemed to help my son. Watching your son have multiple seizures daily is simply heartbreaking. I sunk into a depression and I didn’t think I could pull out of it. I shut everyone out of my life. I was devastated that nobody could seemingly help my son. In January 2013, we discussed Afinitor. The doctor decided to take him off of Onfi (as the side effects were too harsh for Cayden). We began to wean Cayden off Onfi  and we were to start a medicine called Dilantin while waiting to get approved for Afinitor.  After three days on Dilantin, something changed with Cayden. When we woke up on a Sunday morning we heard Cayden in his crib moving around and making noises. I was baffled when I walked into his room. He smiled at me! Then he laughed! And then, of course, I cried! I hadn’t seen that beautiful smile in five months. He was so happy and I can’t describe the feeling I felt seeing him smile. I felt my prayers had been answered.

I felt like for the next few weeks I was waiting for the bottom to fall out. But waiting for a seizure to happen is no way to live. So I tried my hardest to just enjoy the seizure-free time that we got with Cayden. Prior to starting Dilantin, he was set up for brain surgery in April of 2013 at NYU Medical Center. The surgery wasn’t successful and while that was extremely disappointing, I was glad that we at least had Dilantin to help with the seizure control. Cayden just turned 2 April 18th of this year. He’s just learning to crawl and stand, he’s saying a few words and he’s sitting on his own. Six months ago, he was doing none of that. I have such a tough, strong, determined little boy! He is my hero and the absolute love of my life. I am so grateful that God gave me such an amazing child and I feel truly blessed to be his mommy!