(Thank you Kelli for the cute title…wish I had thought of it!)
I hope you have a few minutes to spare to read about TSC, how our family has been affected and what you can do to help!
What is TSC?
Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. You will see it referred to both as tuberous sclerosis (TS) and tuberous sclerosis complex (TSC). The term TSC is used in scientific literature to distinguish tuberous sclerosis complex from Tourette’s syndrome.
The disease affects some people severely, while others are so mildly affected that it often goes undiagnosed. The most common affect of TSC is brain manifestation or tumors is epilepsy or seizures. Seizures occur in 60 to 90 percent of individuals diagnosed with TSC. Some people with TSC experience developmental delay, mental retardation and autism.
At least two children born everyday will have TSC. Current estimates place tuberous sclerosis complex-affected births at one in 6,000.
Since there is no cure, early intervention is key to helping overcome developmental delays. Advancements in research are bringing new and improved therapeutic options. Surgery to remove tumors or stop tumor growth is helping to preserve the function of affected organs. Technology is pinpointing the exact portions of the brain stimulating seizures and creating new therapies to help control seizures. With every new day we are one step closer to finding improved treatments.
If you would like more information you can visit the Tuberous Sclerosis Alliance website as they have so much information there and can answer almost any question!
To help you put a face on this terrible disorder here is the face I see everyday as well as her story:
Little Princess (and her twin brother) were born in South Korea at 25 weeks 5 days gestation. She is quite the fighter and 4 months later was released from the hospital into the care of Eastern Social Welfare Society (an organization in Korea that makes it so that those children whose parents made an adoption plan for them can be well cared for typically in a foster home until a forever family has been found). As Little Princess and her twin brother waited for a forever family they underwent many medical tests to be sure they were developing correctly, during one of those tests a tuber was discovered in Little Princess’ heart, so an MRI was scheduled to see if TSC was the culprit as it was discovered she had a few of the ash leaf spots (small areas of lighter/white colored skin) as well. During the MRI, they discovered three tubers at the back base of her skull and a diagnosis of TSC was confirmed. Shortly thereafter, my husband and I learned about them and the rest is history as they say!
Prior to traveling to Korea to meet Little Princess, we joined an online parents group for those with children affected with TSC. We met a couple and their daughter who lived close to my parents. Their daughter who not only also suffers from TSC but is also adopted and only one month younger than Little Princess. What a wonderful find for these two little girls and a great resource for us as parents!
Days before we expected to travel to Korea to meet our little fighters, we received a call that Little Princess had suffered what they suspected was a seizure, another possibility with TSC. We told them to run the necessary tests and that we would wait on the results before traveling. Two weeks later with a normal EEG in hand we left Korea with both Little Princess and her twin brother.
Once arriving in the US, we made appointments with pediatric neurologists, heart doctors and so many more. All said that while most likely she was delayed due to her extremely early birth, it was possible that TSC was the culprit. We immediately started every therapy in the book it felt like and progress was made! With each milestone reached and exceeded we realized that Little Princess had a very mild case of TSC.
Mild or not she still suffers, she can still pass the disorder on to her children and possibly so could her brother. At 32 months old we still have not experienced puberty or some of the other life changes that can bring on the seizures that we dread so much and we are still not 100% out of the woods on the autism that is much more likely with TSC, though it is pretty clear we will likely not be dealing with that issue.
We have met many amazing families who have children that suffer so much more from TSC than Little Princess. And for them as well as for Little Princess’ future family and her that we ask you to help us find a cure for TSC. How can you help? You can sponsor me in our local walk for TSC (or walk with me ~ May 22nd in Galesburg, IL), you can walk yourself (a list list of walks can be found here), you can volunteer with the TS Alliance, you can help me spread the word and so much more! Feel free to e-mail me with any questions! I leave you with one more reminder of how TSC is part of my everyday life: