James' Journey with TSC

It only seems fair to start from the beginning of this journey to bring everyone up to speed before launching into what is new.

When James was about a month old, Gebin and I noticed some small white patches on his skin. The pediatrician recommended that we see a dermatologist, which we did. At the time, the dermatologist did not think much of the spots, and we had no reason to believe they would suggest anything else going on with our baby. Little did we know it was a marker for something deeper.

Fast forward two months later, and James was at home when I noticed some odd behavior after he ate. I disregarded it, only briefly mentioning to my mom later that I almost thought he was having a seizure, but I had to have been mistaken. After all, the nurses at the hospital said that seizures in babies were extremely unlikely, so why would my baby be the exception?

The following day, he again was eating and started to have some odd spasms with the left side of his body. The Lord had to be with me, because I thought to grab my phone and take a video of what was happening. It lasted for maybe a minute, and he quickly fell asleep after. I was very concerned, and called Gebin to see what we should do. Neither of us had any experience with seizures, and were somewhat at a loss. After a few phone calls, and a bit of paranoia, we decided to head to the ER.

The staff in the ER reviewed the video and quickly decided that James would get bloodwork and a CT scan. The pediatrician on call reviewed his medical history with us, which was fairly unremarkable. However, we did mention his white spots on his skin, to which she quickly examined them. She mentioned that it could be something called “tuberous sclerosis” but not to get too worried.

Once his CT results were back, it showed that he had multiple calcifications in his brain; something no parent ever wants to hear about their child. Their biggest concerns were that the calcifications could either be from infection like toxoplasmosis or CMV, or a potential brain injury. They admitted us to the critical care unit and started him on his first seizure medication, with the promise that we would get an MRI done the following day.

Because babies do not sit still, he had to have his MRI done under general anesthesia. It was difficult for Gebin and I to sit and wait for our little baby to come back. Once he did, it took less than an hour for the results of the scan to come back: the MRI indicated that he had multiple cortical tubers and subependymal nodules (non-cancerous growths), indicating that our baby did have tuberous sclerosis.

Tuberous sclerosis complex, known as TSC for short, is a rare genetic disorder that causes an overgrowth of cells in multiple parts of the body. You can learn more about it at the resources under “learn more”.

The hospital pivoted their testing, now far less concerned that he had an infection and had a 95% certainty that he indeed had TSC. His genetic test would take roughly six weeks to confirm or deny his diagnosis. In the meantime, we scrambled with what other tests he would need and he needed to continue taking oral medication to control his seizures twice a day at home for his epilepsy.

Two weeks after his diagnosis, he had his first two-hour EEG. The prep was hard, but we were determined to keep our little man awake so that we got the clearest picture possible of what was going on in his brain. That EEG revealed that he didn’t have any seizures during that time, but that he had a much lower seizure threshold. Relieved that the medication was working, we waited to see the neurologist.

The same day as his EEG, we met with a pediatric cardiologist. They did an echocardiogram (an ultrasound of his heart), an EKG, and had him wear a monitor at home for two days to check his heart. It was revealed that he had three non-obstructive rhabdomyomas (non-cancerous growths) in his heart, which basically confirmed the suspected diagnosis of TSC. Luckily, these growths typically remain unchanged or shrink. He will be having a follow up echocardiogram in March to make sure these are following that same course.

Now that we knew James’ diagnosis, we returned to the dermatologist. He discussed the ash leaf spots, the name for the white patches of skin, as well as other things that we would need to monitor as James grows up. Because TSC affects the growth of cells, at different ages he might see different dermatological presentations. Luckily, the only thing he has now is his ash leaf spots. The dermatologist let us know that we only had to reach out if we had concerns in the future, but there wouldn’t be any routine follow up for now.

Next up, we visited the pediatric ophthalmologist. He checked James’ eyes because there was a concern that one of the growths seen on the imaging from his ER visit might be near his right eye. James was not a fan of having his eyes dilated, but we were relieved to hear that the ophthalmologist thought his eyes looked great and the concern was likely just artifact from baby movement during the scan.

TSC can also cause growths on the liver and kidneys, so James was scheduled to get an ultrasound with a pediatric technician. He wasn’t able to eat before the procedure so they could see clearly what was going on, but his grandma came to the appointment with him to help distract. The results were almost immediate that his abdomen looked normal!

The time finally came to meet with the pediatric neurologist. She evaluated James and due to some concerns with some odd episodes, it was decided to increase his antiseizure medication again. However, he was all smiles during his appointment and charmed everyone. We would be following up with her in a few months to check on him again.

Lastly, we met with a geneticist at Shodair Children’s Hospital. James’ test results had confirmed he had TSC Type 2. The staff also preformed a thorough exam of James and were please and optimistic at his growth and development. At that time, Gebin and I also got our own tests done. One in three times, a child can inherit TSC from a parent (the other two of three are random) and because TSC is so variable in presentation, the parent may not even know they have it. Gebin and I wanted to be sure. Both of us came back negative for TSC, so it was a brand new change specific to James.

The TSC Alliance, an organization that is dedicated to helping find a cure and raise awareness for TSC, has a directory for TSC Centers of Excellence. The nearest one was in Salt Lake City. So we scheduled a time for December to meet with a pediatric neurologist who specifically deals with TSC.

All seemed to be going well, but we noticed that James wasn’t quite as on time with some of his milestones as we would want him to be. This lead us to seeking out physical therapy for him. Although I was somewhat skeptical for what they could really do for a baby, we got some exercises to practice at home to build his strength.

It wasn’t until the week of our appointment in Salt Lake that we discovered a new development. Ever hypervigilant, we noticed that he seemed to have a seizure that lasted longer than any of his previous suspected seizures. We again videoed the event, and sent it to our neurologist. Within a day, her office called us back and said that it appeared to be infantile spasms, a serious and different type of seizure. After a lot of calls back and forth, they sent us to Primary Children’s Hospital in Salt Lake City for James to have a 24 hour EEG to see if they would be able to figure out what was going on.

We quickly packed everything and left the next day, trying to get there as soon as we could for James. It was also one of the windiest days ever, and we drove past overturned semi trucks and through tumble-assault-weeds, but by God’s grace we made it to the hospital. They quickly got James situated and hooked up to the monitor, and we did our best to settle in.

Within half an hour of getting him on the EEG, he had a series of seizures. While we were relieved that they would be able to see what we saw, we wanted to know what was going on, and how we could stop it. The monitoring continued, and it revealed that he was having seizures in his sleep that we couldn’t see. They gave him a large dose of medication to try and “reset” this pattern, and decided to start him on a second type of medication to continue at home as well.

James was monitored by EEG for 36 hours in the hospital. Thankfully, we were discharged just in time to make it to our specialist appointment. She reiterated a lot of the information we already knew, but also stressed that he would need another EEG just before the end of the year to confirm the medication was working. This test could be done in state.

We returned home in time to celebrate Christmas, navigating new medications and sleepy side effects. Shortly after, we headed to his next EEG where they were able to confirm that his seizures are under control for now! However, we will need to recheck this with another EEG in late January.

For now, James is a smiley boy who charms everyone. But at only seven months old, his journey with TSC is just beginning. You may have noticed the logo of our blog. It has a blue wave, which is often symbolic for TSC, and some symbols beneath it that mean “God is greater than the highs and lows”. The Lord knows all of our struggles, and goes before us in the good and the tough.

Please keep our little family in your prayers, and thank you to those who are already praying. We will try to update this blog with news and prayer requests from time to time, but you are always welcome to reach out to us.