Genetic Testing

During a routine ultrasound at about 30 weeks gestation the tech saw a "blip" on Abby's heart.  We went to Providence in Everett where the blip turned into a mass.  We went to Children's in Seattle and the mass turned into a rhabdomyoma which could have been just an extra bit of muscle and fat or could be caused by something called Tuberous Sclerosis Complex (TSC). 

TSC causes random tumors to occur in all areas of the body: brain, kidneys, eyes, skin.  The brain and kidneys are the most common areas where tumors caused by TSC will create the most problems.  There is a wide range of severity in cases of TSC from those that are so mild they are never diagnosed to brain tumors that can cause retardation and kidney tumors that can take over and cease kidney function.

When she was 5 weeks old we took Abby back to Children's for an echocardiogram and she was just fine.  At 6 weeks old we went back to have ultrasounds of her brain and kidneys and they were both clear.  Back to Children's again at 7 months and her heart was still fine.

Abby has a "bump" on the inside of her right elbow that has been there since birth and a "bump" at the top of her right cheek just under her eye and a "bump" on her left heel.  So, I'm starting to wonder if we should get the genetic testing done that will tell us for sure whether or not she has TSC just in case anything happens in the future and we should have this knowledge already on hand.