By Katie Martin
Special to the San Fernando Valley Sun/El Sol
Four years ago, we moved from London to Los Angeles, embarking on what we thought was the biggest adventure of our lives — until two years later when we became pregnant with our son, Blue.
I had a very healthy pregnancy until my 36-week check-up on March 12, 2019, when they detected that Blue’s heartbeat was slightly irregular. The eight months of pregnancy before that had already felt like an adventure, but this was the pivotal moment when our biggest and most challenging adventure would really start. Our son received a diagnosis that would change our lives forever: tuberous sclerosis complex (TSC).
Immediately after detecting that his heartbeat was irregular, they sent me to the maternity ward. They checked both mine and the baby’s vitals and looked for any signs of labor. They found nothing, but insisted on doing a wellbeing scan to check out the baby.
The next day I went in to have our scan, and after it was finished, the technician left the room and did not return for two agonizing hours. When he did come back, he was accompanied by five other medical professionals.
That was when the first devastating news was told to us — Blue had tumors on his heart and that it was likely caused by TSC, a rare genetic disease that causes tumors to form in vital organs, and is a leading cause of epilepsy. Since this disease can only be confirmed through clinical genetic testing, we were sent for genetic counseling that same day.
We were extremely overwhelmed, but the whirlwind was only starting. Blue was born by cesarean section within three weeks, and was then immediately taken to the NICU where I was not able to meet him for almost 30 hours. In the NICU, they monitored his heart and thankfully determined that the tumors were not impacting the vital functions of the heart — which was a much-needed glimpse of good news.
After his fifth and last day in the NICU, an MRI revealed additional tumors on his brain, which confirmed his TSC diagnosis. There was nothing more they could do for him at the hospital and his vitals were steady, so they discharged us with a referral to the UCLA Tuberous Sclerosis Complex Program.
We were fortunate to schedule an appointment within a week. It was a long week full of building uncertainty and mounting questions, but I was wise to keep myself away from Google. I knew I couldn’t handle any horror stories I would come across, and I didn’t want to see anything before visiting with the doctors.
At that appointment, we got the surprise news that they wanted to admit us for an overnight electroencephalogram (EEG), which is a non-invasive test that measures brain waves. The next morning they came in and said that Blue was already having seizures.
The team at UCLA immediately got to work, trying every medication available to get his seizures under control, but nothing was helping. What we thought would be an in-and-out consultation appointment had turned into a 27-day stay. That entire time, since no medications were working, the doctors kept Blue very sedated, which led to him needing a feeding tube, and sleeping far too much for a baby his age.
It was heartbreaking to watch my baby go through this. By the end of this stay, we were left with no solutions, only the instructions to keep returning for regular EEGs.
At about seven months old, the first infantile spasm came. These spasms are a rare and very dangerous form of epilepsy that have an immediate impact on development, so hearing that Blue was having these was a real turning point.
We had already been dealing with issues with Blue’s heart and kidneys and other organs, but I had been warned to be afraid of infantile spasms. They are very hard to treat, and he was having 5-10 episodes a day. After about six months of different treatment trials that didn’t work — including steroids and daily shots — it was time to consider surgery.
Blue was around 1 year old when he had his first brain surgery, which happened to be during the beginning of the pandemic. As of March 2021, Blue has had a total of five brain surgeries to control his seizures. One of the main reasons for all these different treatments, including surgery, is that doctors are not sure where the seizures are coming from within his brain.
The last surgery, happening just months before Blue turned 2, essentially cut the bridge between the left and right brain. This should allow doctors to determine which side of the brain the seizures are coming from, which will hopefully lead us on the right path to determining a more exact location.
That is where we are at now. At 2 years old, Blue can’t walk, talk, or even sit up on his own. He is about 70% behind where he should be, but of course, he is on a completely different path than other kids his age. Blue spends over 16 hours a week in therapy, and we are seeing progress with a few words like, “mama” and “dada.”
After all we’ve been through, those simple words are music to our ears and our hearts.
If this experience has taught us anything, it’s that there is no planning for the future. We know he is likely to be highly autistic, but we do not know to what degree. Right now, our goals are to get him walking and talking on his own.
TSC is almost totally unheard of, but we are committed to change that. We need to raise awareness and fight for a cure so that babies and other families do not have to tread this path over and over.
When Blue was first diagnosed, our relationship with the TSC Alliance was nonexistent, simply because I didn’t want to click on the website or learn more. But now, the TSC community has become such a big and important part of our lives. We have been able to connect with other families, find resources to stay educated as Blue grows and his TSC manifestations change, and every year we participate in the Step Forward to a Cure fundraising event.
The TSC Alliance is the one and only charity championing the fight for a cure, and I’m so happy to be able to work with them behind the scenes as a parent and use my professional experience in advertising to support their great work.
Katie Martin and her husband Brad and son Blue live in the San Fernando Valley.