Second Annual “Blogging for TSC Awareness Month” Day 5
by guest blogger Shannon Grandia (Riverside, California)
My name is Shannon Grandia and my three children and husband have all been diagnosed with Tuberous Sclerosis Complex. Rob and I were high school sweethearts with this “picture perfect” ideal of how our life would turn out. Rob, my husband, had no idea he had the disorder until our first two born began having seizures and were diagnosed with TSC. When Rylee was born she was this perfect, beautiful baby girl and the picture Rob and I had painted for our life seemed to be coming true. Over her first year of life Rylee was having these abnormal staring spells that her pediatrician was writing off as normal infant behavior. At 18 months Rylee’s staring spells were lasting minutes instead of seconds and she was now salivating. This is when her seizures spiraled out of control and she was hospitalized and diagnosed with Tuberous Sclerosis Complex. At the time we had never heard of the disorder and had no idea what to expect. She had numerous calcifications covering her brain along with one distinct growth, ash leaf spots on her skin and focal seizures. Doctors told us best case scenario is that she did not develop any more growths and she could live a normal life on medication to control her seizures; worst case scenario could ultimately lead to death. Our “picture perfect life” was beginning to unravel. Because at the time neither Rob nor I exhibited any signs of the disorder we were told that is was a “sporadic mutation” and unlikely any other children we had would have the disorder. I was about six weeks pregnant at the time of Rylee’s diagnosis, but ultimately lost the baby at 12 weeks. This put a strong desire in Rob and I to have another child and since we were told it was not genetic, we felt confident that there would be no complications with another child.
Jake was born two and a half years later. At birth he was a happy, thriving baby boy. Doctors told us it was unlikely he would have TSC, but they would monitor him when we brought Rylee in for her appointments. At a few months old we noticed a couple white spots on his skin, but doctors told us it was a coincidence and he wasn’t showing any other signs of TSC. I am not sure how long we ignored the small staring spells Jake was having, writing them off as normal infant behavior once again but at 11 months old Jake was having a seizure every half hour and had to be admitted to the hospital and was soon diagnosed with Tuberous Sclerosis Complex as well. He too had the ash leaf spots, three distinct growths in his brain and was having focal and complex partial seizures. This was devastating news and our “picture perfect” life was crashing in around us.
Two children with TSC was a sign that either Rob or I had the disorder. After genetic testing it was determined that Rob had the TSC1 gene that was passed onto the children, his dad and brother were also tested and found to have the disorder. We did a lot of research and discovered there was a 50% chance of passing the disorder onto a child. A year went by and life was manageable. Both Rylee and Jake were hitting their developmental milestones, medication was controlling the seizures and it seemed both had a more mild case of TSC. We felt confident that if we had a third child, he or she would be TSC free. We also wanted our kids to know that we loved them so much and we did not want to let TSC guide the decisions for our life. Looking back this may have been a naïve perspective, yet it gave us Luke, and we would not change that for the world.
We did an amniocentesis with Luke to determine if he had TSC before he was born. Words cannot express the feelings that ran through me when we got the call that our unborn child also had TSC. Because of the diagnosis we did further testing and also knew he had tubers in his heart before he was born. Luke came into the world three weeks ahead of schedule and spent the first two weeks of life in the NICU monitoring SVT’s of his heart. Luke spent more days in the hospital than out his first year of life. At one point he was having over 80 seizures a day and was close to comatose. He also had chronic pneumonia, RSV twice, asthma and further heart issues. Then at two and a half he was hospitalized for liver and kidney failure along with Pneumonia and the H1N1. This was the closest we came to losing Luke and he spent almost three weeks in the PICU at Loma Linda. This hospitalization also revealed that Luke was aspirating with fluids and he got a GI tube for fluids only. Was this really my life?
Luke’s complications were some of the most difficult and darkest days. With the focus on Luke, Jake’s behavior began to decline dramatically. At three years old he was no longer hitting developmental milestones, and was actually beginning to decline. Behaviorally, Jake was throwing constant tantrums and was extremely aggressive being asked to leave the private preschool we had him in at the time. Rylee was also having a difficult time during this period. She was struggling academically, had weight gain from seizure medications and ADHD. All three of our babies were fighting and I will be forever amazed how their strength brought them and us through those rough days. This was a long ways away from the “picture perfect” life Rob and I had dreamed about.
We have now lived with Tuberous Sclerosis Complex for over 11 years. Rylee is 13 years old and thriving. She is the least affected and is on the road to leading a long “normal” life. Rylee still takes medication for seizures and ADHD, and school is not easy. But Rylee is learning how to be a good student and stay focused. She is also a good athlete, playing softball for the last 4 1/2 years and now playing club volleyball. Mostly, Rylee is known for her bright smile, positive attitude, and love of life. She is an incredible help with her brothers and has a heart of compassion that teaches us daily how to be a better person. Jake is now 10 years old and has a diagnosis of intellectual delay and autism. He too still battles seizures, but they are controlled the majority of the time by medication. He also takes a concoction of medication for behavior. Jake has recently moved to a severe autism class, in the hopes that we can get better control of his behavior. The key with Jake is consistency and routine, which is actually good for us all. He as an ABA, one-on-one aid with him in class and an outside agency now evaluates and helps with intervention weekly. It has been a rough couple years. Luke is a 1st grader (in a more severe Special Day Class). He is the healthiest he has been since birth. We have never been able to get his seizures controlled, but at an average of five a day, he is on the most effective combination of medication so far and has begun the Modified Atkins Diet. Also, the G-tube and not drinking fluids has kept the Pneumonia away and he has had a nice stretch of staying out of the hospital. Because of his medical issues, Luke has an LVN that stays with him throughout the day. Originally, we were told he may never walk, talk, or even live past the first few years of life. Not only has he defied all the odds, but cognitively is trying to catch up and shocking everyone. At 7 years old, Luke is saying more words everyday, can now ride a tricycle, can follow routine rules in the classroom and on the playground and makes anyone who comes in contact with him immediately fall in love with those bright, blue eyes and huge grin.
Rob and I take one day at a time and have no idea what the future holds for our children, but it makes for an interesting journey. We have learned to celebrate the little things in life, trust God has a plan for us and our three children, lean on each other and those around us when we need strength, and see the daily blessings our children give us. TSC is a horrible disorder, but it does not define who we are. Rob and Rylee are both considered mild, Jake is moderate and Luke is classified as severe. We pray daily for a cure and that the seizures and complications will miraculously disappear. But we also are so thankful for our three miracles, the difference they are making in this world and the joy they bring. You will not meet three happier kids that appreciate life and each other more. Watching them together is a beautiful thing and they teach us daily how to be better. Over the years our idea of “picture perfect” has changed and our we are our version of “Picture Perfect.”