Tuberous Sclerosis Global Awareness Day: Denial Ends Here

Today, May 15, is Tuberous Sclerosis Complex (TSC) Global Awareness Day.  And today I come out of complete denial of this rare disease that is affecting the life of my 8 year-old son.  I have always been a private person, but today I’m giving you a rare glimpse inside my personal life.

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A few facts about Tuberous Sclerosis Complex (TSC):

  • Tuberous Sclerosis Complex is a rare, genetic disorder that causes tumors to form in vital organs, primarily the brain, heart, kidneys, liver, lung, and skin
  • About 30% of cases are inherited from an affected parent.  The remaining 70% is caused by a gene mutation
  • TSC affects everyone differently.  Some have mild symptoms, others are severe.  Therefore no two stories are alike
  • Around 1 in 6000 babies born are affected by TSC.  More than 50,000 people in the United States have it.  Worldwide, more than 1 million.
  • Behavioral difficulties in TSC can include anxiety, depression, overactivity, restlessness, aggression, temper tantrums (meltdowns), self-injury, social communication difficulties, and sleep problems
  • TSC is the leading cause of epilepsy and autism
  • At least half of individuals with TSC have normal intellectual ability, but may still have difficulties with specific brain skills that can affect daily life functioning
  • Individuals with TSC may have seizures, behavior challenges, developmental delay, and autism
  • Individuals should see a geneticist when first diagnosed.  Other specialties that follow TSC cases are neurology, ophthalmology, cardiology, and nephrology.
  • There is no cure for Tuberous Sclerosis Complex

My son performed age-appropriate activities at first.  He crawled, walked and babbled a few words.  Then my husband and I noticed he went completely nonverbal, and didn’t answer to his name when called.  There was no eye contact.  He also stood close to the tv, and started climbing to high places in the home.  There were other oddities as well.

He was admitted to the Pediatric Intensive Care Unit directly from the pediatrician’s office due to seizures in the waiting room and while being examined.  I didn’t take it well at all being told that my child’s EMG showed seizure activity, and that his head CT scan and MRI both showed brain tumors.  I became so dizzy while the neurologist was talking that I fell from standing back into my chair.

How is my son affected by Tuberous Sclerosis Complex?

  • brain tumors
  • autism (high functioning)
  • behavior challenges, aggressive meltdowns
  • no sense of fear or danger, can’t understand feelings, laughs most of the time when I fuss at or attempt to discipline him
  • renal (kidney) cyst
  • hydronephrosis (fluid on kidneys)
  • hypomelanotic macules – patches of skin lighter than the surrounding skin

My son has come a long way since being diagnosed with TSC at the age of 17 months.  He started attending a special needs school that fall, and was mainstreamed into public school after completing 4 years there.  He regained his speech and is reading at a 3rd grade level (he’s currently in 2nd grade).

My son is also obsessed with trains, geography, and numbers.  Speaking of numbers, I still don’t know how he knows my age and the year I was born, I never told him!

Although it’s a challenge, I wouldn’t trade my son for anything.

For more information on TSC, please visit Tuberous Sclerosis Alliance’s website.  The TSC community is a tight-knit family.  I network with families of TSC worldwide through social media, especially Facebook.  There may even be a state chapter in your area.

Today is Tuberous Sclerosis Complex World Awareness Day.  And today is the day that I end my denial of being the parent of a special needs child.  Up until today, only a select few has known I have a special needs child.  Today, the world will know as I publish this blog post in hopes of helping to spread awareness.

Tuberous Sclerosis Complex.  WE’LL GIVE EVERYTHING.  BUT UP.  That’s the TSC community’s motto, and my family is sticking to it.

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