Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to form in many different organs, including the brain, eyes, heart, kidney, skin, liver, and lungs. It is like having epilepsy, autism, kidney and heart disease all rolled into one.
Anita Bhatia Smith: Three years into our marriage, my husband and I decided we were ready to start a family. When I found out I was pregnant, I was ecstatic. Almost immediately, I had a connection with the little person growing inside of me. When we were told it was a girl, that connection became even deeper. Of course, as all parents, I just wanted a healthy baby, but since all my ultrasounds were normal and I was having a great pregnancy, I could focus on the details -- like decorating the nursery in pinks and oranges and buying all sorts of frilly dresses.
Anya Sofia Smith arrived on June 23, 2007, by emergency C-section. I had checked into the hospital two days before to begin the induction process. Everything was going smoothly, albeit slowly, until the morning of the 23rd when my obstetrician noticed that the baby's heart rate was decelerating. I was quickly wheeled into surgery and, within minutes, we had ourselves a beautiful, healthy baby girl.
The next four weeks went by in a blur. Sleepless nights, breastfeeding, cuddling, rocking -- all the things that new parents go through. And then at week four, I started noticing that Anya's left eye sometimes blinked rapidly for no reason.
At first it was just once or twice a day. Then it progressed to quite a few times a day and I knew something was wrong. Everyone thought I was crazy -- overreacting. But my husband appeased me by rushing over to the pediatrician's office. Because newborns spend most of their time sleeping, we knew that Anya would most likely not exhibit the eye-blinking while at the doctor's office. So I had videotaped her all week and my husband put that footage on a DVD, which we then took, with our laptop, to the doctor.
The pediatrician couldn't diagnose the problem so she referred us to a pediatric ophthalmologist that same day. The eye doctor also saw nothing wrong with the structure of Anya's eye and said, most likely, it was neurological.
The pediatric neurologist said that newborns have a lot of funny little ticks and twitches because their brains are still developing. He said that was probably the case for Anya, but just to be sure, he recommended we get an MRI of her brain.
By the time we went in for the MRI, which was about a week later, Anya's symptoms had gotten worse. There was a lot more eye-blinking and her eyes would start going back and forth rapidly for no reason -- a condition called nystagmus. She also started having what we called the "falling" reflex -- her eyes would open really big, her arms would spread out to the side very rapidly, and she would tense up as if she were falling -- several times a day. We came to find out later that "reflex" is called an infantile spasm.
The MRI was abnormal. She had lesions on her brain, so the neurologist had us come in for an EEG. She didn't have any physical incidents during the EEG, but when we got home, Anya started having full-blown seizures -- her arms would go up in a "fencer's pose," her body would stiffen, and her eyes would move back and forth rapidly. It was horrific.
She was immediately admitted to the hospital for further testing and by then, after doing much research, I knew the diagnosis -- tuberous sclerosis complex.
Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to form in many different organs, including the brain, eyes, heart, kidney, skin, liver, and lungs. It is like having epilepsy, autism, kidney and heart disease all rolled into one.
At least two children born each day will have tuberous sclerosis complex. Current estimates place tuberous sclerosis complex-affected births at one in 6,000. Nearly 1 million people worldwide are known to have TSC, with approximately 50,000 in the United States. Some people are severely affected, while others have a mild form of the disease. Those who have a severe case, like Anya, can experience developmental delays, mental retardation, and autism.
Now what?
We left the hospital, seven days later, in a daze. Anya had been put on an experimental drug and was still having spasms and seizures. She would have up to 15 a day. We then added another medication. It helped for a few weeks but then she would go back to having seizures. Over Thanksgiving 2007, Anya had 30 seizures a day for about a week. My heart and soul were completely shattered. It was the lowest point of my life.
In February 2008, we moved from New York City to Los Angeles. Anya was on three different medications at the time and was still having seizures -- down to about 5-6 a day. She continued with her therapy -- physical, occupational, and infant stimulation -- and met her new neurologist. That summer, our neurologist suggested that we consider getting Anya evaluated for brain surgery. She said that we were coming to the end of medication options and that surgery may be Anya's only hope.
After a video EEG, MRI, PET scan, and MEG, we got the news. She was eligible! The neurologist and neurosurgeon felt confident that they knew which tubers were causing the seizures and that, if removed, Anya could have a chance at being seizure-free.
On November 20, 2008, Anya went in for a right temporal lobe resection. After the seven-hour surgery, the neurosurgeon said all we could do was wait.
Anya is nearing the six-month, post-surgical mark and we're still holding our breath. She has not had any visible seizures and is starting to become more present in the world. Of course, we are not in the clear -- we never will be. We still have to monitor the tubers in her heart and kidneys, get yearly MRIs, and watch for tubers in her eyes. We have to wait for the skin lesions to start popping up and for the ADHD to kick in. But for now -- for today -- we are quietly happy and content.
To learn more about tuberous sclerosis complex and how you can help, visit TS Alliance.
|
previous:
Just A Guy Dealing With Menopause
|
Email18 comments so far | Post a comment now >>
| ||||||||||||
 |
||||||||||||
|
advertisement
|
||||||||||||
|
||||||||||||
 |
||||||||||||
 Win a $5000 Hershey's Diamond Pendant!
Enter Here |
||||||||||||
|
||||||||||||
 |
||||||||||||
|
||||||||||||
 |
||||||||||||
|
||||||||||||
