My pregnancy was going fine, I was having regular ultrasounds for a potentially high risk pregnancy. You see there's this genetic disorder Tuberous Sclerosis Complex(TSC) along with many other manifestations, it causes tumors to grow in the heart,cardiac rhabdomyomas. These tumors grow in utero and are often the first sign a child will be born with the disorder. Knowing my husband has TSC there was a 50% chance any child we had might too. We watched for these tumors in my son. I went to the perinatologist for these regular ultrasounds.
Well one day in early March(I was due April 20th) I was having the ultrasound. The technician left the room after the ultrasound to have the doctor look at it before sending me home, this was typical. What wasn't normal was the doctor walking back in with a team of 5 residents in white coats along with him. I was terrified, I thought they came to hold me down or to be prepared for me to go into hysteria. I thought they were going to tell me by baby had passed away. They didn't, praise God, but they told me he had tumors. Several tumors and one that was by the aortic outflow tract. They told me that they had to watch him closely for if it grew too much it could block the flow of blood. They told me to keep a close feel on fetal movements. They told me to PANIC. (well not directly). They told me my son had Tuberous Sclerosis Complex. My husband and I left the office that day. On the way home from the office it was one contraction after another and a call to my nurse who said you’re in labor get to the hospital. I arrived at the hospital. I was less than 35 weeks. They stopped labor and sent me home on bed rest. I had a lot of time to think and worry during those weeks on bed-rest. It was terrifying. I was constantly worried my baby was going to die from the tumors. But there was still a lot of hope in me for a health delivery.They did two ultrasounds a week until I delivered at 36 weeks and 6 days. I was induced for delivery and after several hours of induction my labor failed to progress. I was not dilating. The doctor gave me a choice: deliver now via c-section or deliver at 1 AM via c-section. I took the now offer since my doctor was more likely to be awake and alert at 6 PM versus 1 AM. I really think he might have been humoring me by giving me the choice, because they delivered him within 10 minutes of asking me. At 6:06 pm I gave birth to a big 8lb 6oz baby boy, three weeks and a day early.
My son spent the next 11 days in the NICU the first three I wasn't even allowed to hold him. I held him for the first time on March 30th. We brought him home just in time to celebrate his first Easter. We saw the cardiologist a lot in the weeks following his birth. Our son was fortunate, while the tumor was causing issues the complications were not severe enough to warrant surgery. I was, however, told that he was not a baby to be left to cry. Crying could set off a fatal arrhythmia. Wouldn't you know he turned out to be a fussy baby. Thank goodness I was able to stay home with him and magically always had the ability to calm him down. I could not just leave this baby with anyone he needed his mom.
My husband and I got the hang of parenting our special health care needs child. He was a beautiful baby boy who appeared perfectly healthy to anyone to meet him. We really did not have to share anything with strangers about what our son had. It was our own secret. Of course our families knew and we did attempt to raise some awareness about TSC. But the news of his TSC did not go out along with his birth announcement. We were lucky he was past the first hurdle of TSC. We were then counting our blessings every day that passed between his birth and his first birthday.
Tuberous Sclerosis Complex has many symptoms. It is a multidisciplinary genetic disorder that can cause tumors to grow anywhere in the body such as the heart, the brain, the kidney's, eyes, skin and in females the lungs. Because our son had several brain tumors which were diagnosed after his birth via a brain MRI, we now had to be on the look out for infantile spasms, a type of seizure that can cause severe developmental delays especially with an onset in the first year of life. We made it through that first year without any obvious seizures. Our baby boy was developmentally right on track. He was even ahead of schedule with speech. He was talking and singing by 15 months. I still remember his first sentence, "Night, night mommy, I want to nurse now." He was so smart and verbose for a 16 month old.
We were so thankful we had escaped seizures in our baby boy. Until we didn't. It was right around 16 months when we picked up on this unusual activity. It started happening so often it was hard to miss the writing on the walls. Although we did miss it for a little while, it did not take long and we were on vacation when we discovered he was for sure having seizures. It was one hospital stay after another, one medicine after another, one doctor visit after another. Nothing was stopping his seizures. Our sweet smart little boy's little brain was put on hold for eight months. It couldn't develop. He was losing language skills. He was losing muscle tone. His left side of his body was not moving the way it should anymore. He seized from 10 to 60 times a day. As his mother I witnessed nearly 10,000 seizures. He'd come out of a seizure during the day and would be so tired he'd fall right to sleep. He literally missed 8 months of his life to seizures. We were at wits end trying medicine after medicine and nothing was working. We were almost facing brain surgery, we even traveled to Michigan for a special brain scan, the AMT PET. We were so fortunate that one of the medicines, SABRIL, finally worked. Our little boy was granted a miracle and his seizures stopped. He has been seizure free for over five and half years. We are thankful for the freedom from seizures, but there is always an underlying concern they will return.
To this day we still struggle with the delays all those seizures caused, but our son is a walking talking miracle and we are so proud of him. There are constantly medical concerns, numerous doctor visits and just last winter it was decided he needed to start treatment with Afinitor for multiple SEGA's in his brain. There are many reasons why this puts stress on a family such as the fact that it is an immunosuppressant and carries several serious health risks. And we always have to look for hidden reasons for all health issues. Every year we see, a cardiologist, neurologist, ophthalmologist, neuro-psychologist, urologist, and special health care needs pediatricians. He has MRI's under general anesthesia and ultrasounds of his heart and kidneys every year too.Most years consist of hospital stays. And this year he was diagnosed with allergies and chronic sinusitis so we see an ENT too.
We are grateful for the advances in medicine and the health care teams we've had over the years. And for the scientists that continue to research causes and cures for Tuberous Sclerosis.
I am thankful to be able to have hope for the future by seeing my husband who also has struggled with the symptoms of TSC throughout his life, supporting his wife and children and overcoming many of the obstacles brought on by TSC.
This is my son's story, my daughter has one too...
Nothing is ever normal and that's my normal.
