I hadn’t felt that sensation of jealousy and anger in several months, but last week, as we were waiting for swim class to start, the two little girls in Connor’s class walked up to each other in excitement. The parents were joyfully greeting each other. They hadn’t seen each other in a couple weeks due to the Fourth of July holiday and illness. But the real source of excitement was that girl #2 was now walking. Girl #1 had been walking for a couple months. Connor’s age (16 months) lies somewhere in between the two. He is not walking and probably won’t be for months.
Connor was born with a genetic disorder (occurrence is 1 in 6,000 live births) called tuberous sclerosis complex. Never heard of it? Neither had we. It is characterized by the growth of benign tumors on the organs. The brain, kidneys, heart, eyes, and lungs are the most commonly affected. Two gene mutations have been identified so far as causes of TSC, chromosomes 9 and 16. Connor has a mutation on 16 and is considered to have TSC2. About 2/3 of cases are spontaneous mutations, meaning it wasn’t passed down from a parent.
TSC presents very differently from person to person. Some people are fortunate enough to be so mildly affected that they don’t know they have it, while others need full-time care. Difficult-to-control seizures are extremely common. Because of the brain tubers, risks of learning disabilities, mental retardation and autism are very high. The reality is that he is too young for us to know exactly how he is going to be affected. We just have to wait and see.
Connor’s seizures started hours after birth. It took five weeks in the NICU to get enough control to send him home, though he would need to return three months later for brain surgery. The tuber causing the majority of seizures was removed from his right frontal lobe, his progress sped up and we had a month of seizure-free life. Then came the infantile spasms. More panic. More meds. Finally control. Then came the return of complex-partial seizures. The seizure road has been full of ups and downs, but I’m still hopeful control is in the future.
Connor is developmentally delayed and receives physical, speech, music and aquatic therapy. But the last couple of months have been amazing. He actually rolled from stomach to back on time, but he refused to go the other way, fighting tummy time at all costs — I guess he just really wanted to wear one of those cool cranial remolding helmets for a few months. Suddenly, several weeks ago he finally discovered that getting on his stomach opened the door to mobility. Since then his range of movement has exploded, and while he doesn’t move in the way a typical 16-month-old does, he’s still managed to create a path of destruction in the living room. He really looks like he’s on the verge of crawling, too.
So I had my moment in swim class. But that’s okay. My baby boy is crushing it every day with a smile on his face. Today I had to pull him out of the fireplace. And I liked it.Rebecca Gaunt is a mom, a Blogger and a Freelance WriterShe is the Chair of the TS Alliance of Atlanta/North GeorgiaYou can find her on her Facebook page Mixed Up Mommy or her blog