Our diagnosis came when Ryan was having “staring spells” right before his second birthday. Our pediatrician took my concern seriously and sent us immediately for an EEG. In April 2014, Ryan had a focal spike and sharp wave activity in the right hemisphere. He began taking an anti-seizure medication that month and was officially diagnosed with epilepsy with focal with impaired awareness seizures. An MRI of the brain was completed in May 2014, which revealed abnormalities supportive of Tuberous Sclerosis Complex (TSC) and a Chiari I malformation. Further evaluation confirmed a diagnosis of TSC, which is a rare genetic disorder that affects several of the major organs.
He was seizure-free for nearly two years, but then started having recurrent breakthrough seizures and was having issues with some of the different anti-seizure medicines. Following an evaluation in September 2016 at Nemours Children’s Hospital in Delaware, Dr. Chugani recommended epilepsy surgery. The two-step surgery started with a grid placement. Then, three days later, Dr. Piatt performed a right frontal lobectomy, right anterior temporal lobectomy, and right parietal corticectomy. Ryan developed temporary left-side weakness and followed up with inpatient therapy for a month. He continues to receive occupational therapy with Alyssa Cellini and speech therapy with Alyce Brandon at Nemours Children’s Hospital.
When Ryan started having seizures, it impacted our entire family. At the time, his brother was in pre-kindergarten. I could remember having to put his lifeless body into the car to get his older brother to school. Ryan would have to sleep off the aftermath of his seizure. We were trying to imagine what the future looked like, not just for Ryan, but for our whole family. It was so upsetting, and we felt on edge every day. Would he get to have a normal childhood? How delayed will he become? We were trying not to jump to the worst-case scenario, but it wasn’t easy to do.
Our experience with Nemours Children’s has been nothing short of amazing. We had gone to another hospital in the next state with a TSC doctor. The experience was day and night, so we were relieved when we stayed with Nemours and never looked back. After Ryan’s surgery, the boys were featured in a Nemours commercial with Dr. Chugani. From the doctors to the therapists, it was teamwork that made Ryan’s journey so successful. Ryan began his treatment with Dr. Chugani and Dr. Salvucci, who are no longer at Nemours, but is currently working with a great team: Dr. Tran as his Epileptologist, Dr. Nees as his Cardiologist, Dr. Muneeruddin as his Nephrologist, and Dr. Harrison-Goldman as his Neuropsychologist. We certainly did not do this by ourselves. We could even make decisions when not everyone was on the same page. We thank God every day for his life!
His recovery has been one heck of a journey, but looking back from when we started almost seven years ago, he is making the most incredible progress. It has been a process with therapy and ensuring we are keeping up to date on the latest technology or what advances are available. That even means outsourcing some therapy. We feel like our success also is that we treat Ryan just like our other son. We do a lot of activities at home that are a continuation of his therapies. Even though he has a complex medical condition, we still make him feel like he is just your regular 11-year-old.
Our goal for the future is an interesting one. We want to make plans for a successful future, but understand we need to take one day at a time because of the nature of the disease. We hope he continues to make leaps and bounds, but we are cautious because it could all change in one instance. We are healing by giving back in whatever way possible to Nemours Children’s and the TSC community, whether that is monetary or as simple as discussing our journey with others. We want people to know that even though the diagnosis is heavy, there are people who will carry you through.
Our advice to other parents would be to find a support group for your child’s medical condition. Ask all the questions that you can think of to your doctors and therapists. Even if that means, “What does this future look like years from now?” Lean on your family and friends to walk with you through the dark days. There are brighter days ahead because a storm never lasts forever! Once you are on a stable path, give back to help those who were in your shoes.