"As scary as this disease can be, we at least had some awareness about what to expect because he was diagnosed early."

Photo of a patient with TSC. Many TSC patients have brain tumors, seizures, developmental delays.
As told by Lindsay, mother to Maui, who was diagnosed with Tuberous Sclerosis Complex. Because he was diagnosed early, his parents were able to educate themselves on what to expect and look out for.

When our fourth child, Maui, was born, there was no indication that anything was wrong until I noticed some white spots appear on his skin. The patches kept popping up in odd shapes, so we did a video visit with our dermatologist, who said it was vitiligo (a skin disease that causes the loss of skin color in patches). He also referred us to a specialty pediatric dermatologist at a children's hospital for a second opinion.  

In advance of our appointment at the children’s hospital, we sent in some photos of the skin patches, and a nurse quickly called to schedule us for an earlier appointment. I figured it was just that the scheduled had opened up and was excited to see the doctor sooner. When the dermatologist examined Maui under a special light, she at immediately told me that the patches did not look consistent with vitiligo. She thought he might have a disease called Tuberous Sclerosis Complex (TSC) which results in benign tumors on vital organs and developmental delays.

I was completely caught off guard. My son had been hitting all his milestones. This was just supposed to be a weird birthmark. When I left, I asked for more information on TSC, but the dermatologist didn’t even have a  a pamphlet to give me. I asked the physician to at least spell it for me and then I did the rest of the research myself.  The next step was to get an ultrasound of his heart and a genetic test to confirm the diagnosis. I was sure it would all come back negative.  

I was initially hesitant about the genetic test. Why label him? But I knew it was the right thing to do for Maui and our family. We had to know what we were dealing with and what to expect.

Maui tested positive for TSC on the TS2 gene, and an ultrasound showed five benign tumors on his heart. My husband and I both tested negative, so it was a random mutation for Maui.  

We were able to educate ourselves on what to expect because we got an early diagnosis for Maui.  When he had his first infantile spasm, we only knew what was happening because we had read what to watch for. When your child has a seizure, it will always be terrifying, but we were as prepared as we could have been since we knew it was a possibility. I recorded a video of one of his first seizures and instantly sent it to his neurologists. As scary as this disease can be, we at least had some awareness about what to expect.  

Since then, Maui has been on several treatments for infantile spasms. Connecting with others and educating myself has helped me work with his medical team to manage his treatment plan. I have learned that you must be vocal about what works for your child and your family. Remember your child is an individual, and that if something doesn’t feel right don’t be afraid to speak up and ask questions. Follow your mom gut, but also do your research.  I would also advise other parents to find what works best for them to track their child’s medical history. There is so much to remember, and once you get going on this train, it moves so quickly.  

While it's a lot to be a caregiver, we were lucky to be connected with a genetic counselor to help with the emotional aspect and to have a supportive family. People check on the patient, but they don't always check on the caregivers. If you need a break from the medical aspects of caregiving, know that it's ok just to love your child and be with them. Don't let their diagnosis or their potential diagnosis cloud the beauty of the moment. Children are intuitive and can sense your stress. Sometimes, they just need you to be there.  

Learn more about Tuberous Sclerosis Complex (TSC)

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