Conor was born a happy, healthy baby boy in July 2005. He is the youngest of our crew with 3 older brothers and a sister. When Conor was getting ready to go for his 4-month well baby check, I started noticing that one of his eyes looked a little larger than the other. When we saw the pediatrician, she also took note of a large number of “birthmarks” that had popped up all over his body and remembered a disorder from medical school that concerned her. She immediately made an appointment with a neurologist that Friday (3 days later) and had a brain MRI scheduled for the same day. In my initial shock I said that we couldn’t make that appointment because we were flying out to go see my husband’s parents so we needed to reschedule. As I was driving home, I was like–what am I thinking!–I canceled the flights and got the appointment rescheduled back to its original time.
That Friday we found ourselves surrounded by a room full of doctors and med students with a diagnosis of Neurofibromatosis Type I….and it all began…
We were told that NF could be very mild. As a scientist, I went digging and knew all of the percentages, all of the possibilities. The MRI came back clear, and we were thankful, but not really, because our world had been rocked and of course we were imagining all of the things that could go wrong. We met other doctors, including a geneticist, and basically learned that Conor would be monitored closely, having another MRI in 4 or 5 months, and that we couldn’t worry about anything until we were faced with it.
When the next MRI came around, we were faced with it. Tumors had appeared in Conor’s right orbit, extending back into his brain, and we were immediately sent to a neurosurgeon who informed us that Conor needed to have a craniotomy. He also told us they would not be able to get all of the tumor because these tumors get all wrapped up in the nerves and the area of the brain in which the tumors extend is just too dangerous to operate. Not even 10 days later, they were cutting into my baby’s head–straight across, from ear to ear–and we were in the ICU and hospital for the next week. Amazingly, he bounced right back after surgery; I witnessed for the first time the strength and resilience of my little boy.
Over the next few months Conor started visibly changing. His right eye started to bulge out and actually lower in level to a point that I emailed pictures to the neurosurgeon while we were on vacation. He immediately scheduled another MRI, which showed extensive growth of the tumors and that the eye was bulging out past the socket, so it was hanging over. In a week, he was back in for another craniotomy, this time with the help of a craniofacial surgeon for some pretty extensive facial and orbital reconstruction…not even 14 months old and he was in the hospital another week for another craniotomy. Another quick recovery from an amazing kid.
Three months later, the next MRI showed extensive tumor growth. We were told that he needed another operation, but that without someone who could operate around the optic nerve, there was nothing he could do. We visited an adult ocuplastic surgeon who was not really interested in getting involved with Conor’s case and, after meeting him, we didn’t feel comfortable letting him touch our child.
We were referred to Duke after speaking with other physicians where we met with a craniofacial surgeon, neurosurgeon, and an oculoplastic surgeon. A month later, I had still not heard anything and was told by one of the doctors after contacting all of them by email that they were tossing around Conor’s case like a hot potato–that his manifestations were rare, and that I needed to see someone who saw a little more of this type of thing. We were referred to the two best specialists in the country for pediatric eye tumors–luckily, both were in Philadelphia, so we were able to see them both in one trip. When we saw the second doctor, Dr. Katowitz at the Children’s Hospital of Philadelphia, we knew we were in the right place. He immediately walked us up to the neuro-oncology department to meet Dr. Belasco, and our treks to Philadelphia began.
They decided it would be best to remove Conor’s right eye. A little over a month before his 2nd birthday, we traveled up for Conor’s 1st surgery in Philadelphia; we were back six weeks later for a prosthetic eye fitting, and have been there at least every 3 months since. He has had numerous tumor debulking surgeries in Philadelphia and has been treated wonderfully by a very cooperative team of doctors. We had no idea at the time what a wonderful thing it was to remove Conor’s eye, but developmentally, he took off after it was removed. He was in so much pain, but could not communicate how much; we realized it when the pain was gone.
Last summer we spent most of our time in Philadelphia because an MRI showed significant tumor growth. They decided it was best to debulk the tumor, wait three weeks and start a yearlong IV chemotherapy protocol under a clinical trial. There is not any chemotherapy effective for shrinking these tumors, and some chemo and all radiation can actually cause the tumors to undergo malignant transformation; it’s considered success for the tumors to stop growing while on trial. He completed the year in September 2010 and has not had any appreciable growth of his tumors since! They did this last debulking surgery to try to clear some tumor out and do some cosmetic fixes while the tumors were stable and less vascular due to the chemo.
This has been such a journey, and we have one amazing kid! It never ceases to amaze me how well he handles all of this–his strength is inspirational. He lives as normal a life as possible–plays sports, goes to school–and has a personality and smile that wins everyone over!