Nathan's story - Tuberous Sclerosis Complex


Tuberous Sclerosis Complex

We first started to notice Nathan’s seizures when he was 10 weeks old. At the time we didn’t know that they were seizures, only that something seemed strange about his eyes, his facial expressions, and his body movements. Nathan is our first child, and having spent very little time with newborns prior to having our son, both my husband and I found many things about caring for our child unexpected and, at times, frightening. Sometimes it was hard to tell which of our worries were legitimate.

I began to notice that Nathan would stare unblinking for long periods of time, seeming to look through objects rather than at them no matter how close he was to an object. While feeding him, I would occasionally see him look to the side, always to the right, his eyes moving just a little too far to be natural, as though he was trying to see something beyond his line of sight. Then the strange eye movements and periods of staring were paired with body clenching - his knees pulling up to his chest, his arms raising above his head, fists clenched. These movements would last a few seconds and be repeated in clusters. Lasting only about a minute, these episodes would pass and he would be back to “regular” behavior. The progression from subtle eye movements to full body clenching happened so quickly, over a period of just a few days, that we could no longer explain them away as new parent paranoia. A little google-sleuthing told me they might be seizures, specifically infantile/epileptic spasms. I called the pediatrician, praying I was wrong.

Catching a couple of these episodes on video proved to be invaluable in getting a quick diagnosis as they happened sporadically and thus might not be seen in the doctor’s office. After watching the videos, our pediatrician referred us to a pediatric neurologist who confirmed these episodes as epileptic spasms. Nathan was immediately sent for a CT scan to confirm the diagnosis of Tuberous Sclerosis Complex (suspected due to patches of hypopigmentation on his skin). We started Nathan on his first anti-seizure medication that day. Thus began a long process of trial and error with a variety of medications in varying doses and combinations and with limited success.

When Nathan was 16 months old, we switched our health insurance plan so that we could visit the TSC clinic at UCLA and take advantage of Dr. Joyce Wu’s expertise. We were able to find a medication to control the epileptic spasms but Nathan had developed focal seizures as well, and these proved to be largely resistant to medication. Nathan was still having multiple seizures daily and, despite physical, occupational, and speech therapy, as well as our son’s seemingly endless determination, he was slipping further and further behind developmentally.

Nathan was 27 months old when Dr. Wu suggested we consider surgery. At first we were resistant to the idea. Consenting to have your child undergo a surgery of this magnitude is not a decision that any parent would take lightly. However, we had spent nearly a year working with Dr. Wu, trying different medications, undergoing tests, monitoring his development, and we had learned to trust her judgement. She consistently presented her next course of treatment backed by the latest research, her own professional experience, empathy for our fears and our son's struggles, and a genuine interest in the progress of our child. We decided to proceed with the necessary tests to determine his candidacy for surgery.

Results from repeated overnight video EEG monitoring at UCLA, and the results of an MEG conducted at UCSF, pinpointed a tuber in the right frontal lobe as the source of the focal seizures. Dr. Wu presented Nathan’s case to the Neurology and Neurosurgery teams at UCLA and it was agreed that Nathan was a good candidate for tuber resection. It was then that we met Dr. Aria Fallah.

As might be expected, my husband and I had discussed our son’s condition and the proposed surgery with friends and family during the process of determining Nathan’s candidacy. Over and over, people who had experienced surgery themselves, or had gone through it with a loved one, warned us to expect a detached and calculating attitude from our surgeon. A pleasant bedside manner is apparently not a common strength amongst surgeons. Dr. Fallah defied all expectations as we found him to be every bit the professional one would want in their surgeon, but with a calm warmth that made him instantly likable, someone who we felt we could trust with our son’s life. He outlined what we should expect the day of the surgery, during the recovery, and the likelihood of seizure-freedom. He carefully listened to our rather lengthly list of questions and addressed all of our concerns. It may sound strange to say, but we left that meeting feeling almost excited about the surgery and very optimistic about a positive outcome.

The day of the surgery was very long and emotionally difficult - we wouldn’t have expected any less. Nathan went into the OR at 7:30am and was taken to recovery at 3:30pm. I felt as though I had aged years in the passing of those hours. However, the doctors, nurses, and staff at UCLA did everything they could to help keep us informed and worry-free during that time. Through a combination of message board updates, phone calls, and in-person updates in the waiting room from various members of the team, we were kept apprised of the progress as the day went by. Once the surgery was over, Dr. Fallah came to see us in the waiting room to give his account of the surgery. Finally we were taken to see our son, resting comfortably and on the road to recovery.

At time of writing, it has been 9 weeks since Nathan’s surgery and 9 weeks since we last saw a seizure. Writing it down, it seems incredible. A “miracle” that came from a whole team of individuals who strive to use all the tools of modern medicine at their disposal to improve the lives of children like Nathan. In the 9 weeks since the surgery he has made great strides in making up for lost time in both his physical capabilities and communication. Nathan’s strength and resiliency amazes me. In many ways I feel I am only just getting to meet my child, a child who I would see in glimpses between seizures that drained him and made him distant. Nathan is now full of energy, fiercely affectionate, and determined to do everything “all by himself”. We couldn’t be more grateful.