Xander’s Story: Bringing Awareness to TSC

Megan Kahn is a lawyer, yoga instructor, and mama to 3 beautiful kiddos. Last year she and her husband, Ben, and their two daughters welcomed the newest addition to their family, Xander Shiloh. Xander has a very rare genetic disease called Tuberous Sclerosis Complex (TSC), and we are endlessly grateful to Megan for sharing the story of her family’s journey with us:

Xander's Story: Bringing Awareness to TSC | Denver Metro Moms Blog

Xander at 4 months old

In August 2016 I brought my son Xander in for his 4 month check up. All seemed to be perfectly well–he was healthy and on track developmentally. But his doctor saw he had a few little white spots on his skin where he was lacking pigment. Ben & I first noticed the spots when he was about 2 months old, but we didn’t think it was anything to be overly worried about–we viewed it akin to a birth mark or freckle. However, Xander’s doctor thought otherwise, and gave us a referral to see a pediatric dermatologist at Children’s Hospital in Denver. There was some talk about vitiligo, a cosmetic skin condition.

After that doctor appointment, I remember thinking, “Dr. V is really overreacting and making things inconvenient for us! This is going to be REALLY AWFUL if Xander has vitiligo…what will other kids say about his white spots?”

Looking back, a diagnosis of vitiligo would have been a blessing, something I wish I could say he has instead.

About a month later, we arrived for his appointment at Children’s Hospital. The dermatologist walked in, shut off the lights, and clicked on a Wood’s lamp.

That’s when everything changed.

I knew it was bad. Really bad. There was some uncomfortable mumbling as the doctor processed what she saw. The energy was shifting. It suddenly got cold. I heard the resident say, “He has over 20 of them.” The exam lasted less than a minute. The lights came back on.

“Why don’t you take a seat…” The dermatologist motioned to a chair.

It is no joke when you are asked to sit down. I was already tearing up. Then the onslaught of questions from the doctor sent my mind spinning:

“Has your son ever had seizures?”

“You or your husband or daughters ever had seizures?”

“Do you live near a hospital? Because if you don’t, you may want to consider relocating to Denver.”

And then for the first time I heard it:  “Tuberous Sclerosis Complex.”  I was paralyzed. I asked the doctor to write down the name of the disease. And then she ended with, “Whatever you do, DO NOT google it.”

When the doctors and nurses left the room, I wiped my tears enough to focus, grabbed my phone, and…googled it.

“Tuberous Sclerosis Complex (TSC) is a rare multi system genetic disease that causes tumors to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs, and skin. A combination of symptoms may include, seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, and lung and kidney disease…TSC is rare…an estimated 30-50,000 people in the US have TSC…The prognosis for individuals with TSC is highly variable and depends on the severity of symptoms…There is no cure.”

An MRI about a month later confirmed that Xander had numerous brain tumors and did in fact have TSC. Ben was out of town for work when we got the news. He immediately flew back to Denver and reality began to set in. We were devastated. We went out to a restaurant and cried into our meals as we wrote down questions we had for the doctors. The list grew to 80 questions. The next day, on a call with the neurologist, we got very few answers.

TSC is a crazy unpredictable disease with a great deal of what I have come to accept as “certain uncertainty.”

We all live with uncertainty, but with TSC, it is more present, like a dark cloud following you around at all times. Imagine someone told you that there was a 90% chance you were going to get into a car accident and there was nothing you could do to stop it. And then they told you there was no way to predict how bad the injuries would be, or if you might even die. And then you are forced to take the keys, start the car, and go for a drive. That is what living with TSC feels like.

Over the next couple weeks, I turned into what felt like a crazy lunatic.

Xander at 8 months old, during an overnight EEG

I went out and purchased my first set of healing crystals and carried them around everywhere. I cried to everyone I ran into around town, regardless if I knew them or not, begging for help. I researched every remedy for prevention of seizures. My house was filled with the aroma of frankincense, I was making moringa smoothies, juicing cannabis, and experimenting with the ketogenic diet.

Shortly after his diagnosis, and despite my best efforts, Xander began to have an infant form of seizures called infantile spasms. An overnight EEG in November confirmed he had over 20 seizures in 18 hours. The seizures were easily mistaken for normal baby movements to us, but they were causing catastrophic damage to his brain and his development was beginning to regress.

Since then, Xander has been on a heavily-regulated medication called Sabril with a scary side effect of 30% vision loss. In January we also began Xander on CBD and THC. And it is working. Xander has been seizure free for about 4 months.

In addition to the tumors in his brain, Xander has tumors on his eyes–one very severe tumor on his left eye specifically may cause blindness. His heart and kidneys are okay right now. He will be monitored for the rest of his life at least every 3 months to see how this disease manifests for him. He is about a week shy of 1 year old, but is developmentally at 4-5 months. We don’t know if he will ever walk or talk or crawl. We don’t know if he will be able to use his arms and hands normally, or be able to feed himself. And as he gets older, the delays will become more and more obvious.

 Xander today, at 1 year old

At the end of the day, Xander is an incredibly smiley, happy baby.

He has good days and bad. I have good days and bad. We take everything day to day, moment to moment. We celebrate tiny accomplishments that I never paid attention to with my two other children–toes wiggling, eyes tracking, sleeping longer than an hour. He is not in any pain.

Already this experience has completely changed my life. I have come to realize that these moments serve as important shifts into what our new normal becomes. They are vivid and unforgettable turning points. We all have them. And while they typically represent enormous life struggles, they are also gifts, for they cause us to reevaluate what we focus our energy and attention on. We become more patient, forgiving, and tolerant. We have more clarity.

From day one, Xander has peacefully defended this disease. His strength and his graceful demeanor inspire me to be a better mother, a better person. While I often question my strength and ability to care for a child with Tuberous Sclerosis Complex, I am doing my best and learning a lot about the process, and about myself, along the way.

Thank you so much for sharing your story, Megan. To learn more about Tuberous Sclerosis Complex (TSC), or to make a donation toward finding a cure, please visit the Tuberous Sclerosis Alliance.

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