Ed note: During May, NF Awareness Month, we are posting stories of individuals and families living with and overcoming the challenges of NF. If you’d like your story to be featured please email ggleeson@ctf.org with an article of approximately 500 words, and your picture (or your family’s picture). If you like this story please share it with your friends and family via email, Facebook, Twitter etc. Together we can do wonderful things to promote NF awareness and research, thank you for your commitment to the cause.
Before having children, I knew there was a 50% chance of passing the disorder onto my children. My [then] husband and I discussed the possibilities and decided to have children anyway. After all, I have NF and the only issues I have encountered are mostly physical in appearance. I knew the day Mary was born she had NF. I noticed a café au lait spot on her labia. My heart was crushed. It took me a long time to accept (and I still have not fully accepted – as I see more tumors on own skin daily) “what I did to her”. As a child I was made fun of due to my spots, and I suddenly felt very selfish knowing there was a possibility my child would have similar childhood experiences.
When Mary was about 5 months old, I took her to see a neurologist to get a baseline exam on her. She was at all her milestones, but the doctor encouraged me to get an MRI. I did not. I was convinced that everyone in my family with NF was fine, and I was determined not to have my 5 month old sedated for a test that would (to me) prove nothing. We saw the neurologist 6 months later for a follow up. Mary was still making all her milestones, so I still refused the MRI. For her 6 month follow-up after that I was forced to switch neurologists due to insurance. I saw the partner of the first neurologist, the doctor we saw was just awful. She knew very little about NF, and didn’t even want to touch my daughter. When I got a copy of her report, it could not have been more wrong. She listened to nothing of what I said. I wrote a letter and sent it to the board along with a redlined copy of her report. By this time, Mary was experiencing some speech issues. I began to investigate getting her tested for early intervention. She was accepted without hesitation, while she still was making all her milestones, she was showing signs of other issues.
By the time she was 3 I was on my 4th neurologist. He said she looked good, but he wanted me to see a vision specialist, and he said “Kim, if you think nothing is wrong, get the MRI and shut us all up, but with NF comes the possibility of tumors on the brain and on the spine.” This was in 2006. I still remember this conversation. I gave in and took her for the MRI. Not only will I remember the conversation, but I will also remember the phone call of him telling me she had “white matter” in her brain and that he could not help me. He sent us to Dr. Allen of the Hassenfeld Children’s Center at NYU. He assured me that Dr. Allen was the right doctor for us and NYU was the right place to be. We were scheduled to see Dr. Allen within a week or two. Dr. Allen confirmed that she had an enlarged optic chiasm and an optic pathway glioma. Dr. Allen took a very conservative approach. The eye doctor we saw was patching her eye, but her vision was there, it was about 20/60. Because of that, he wanted to take a “wait and see approach” and asked me to repeat the MRI in 3 months. We did, and there was no change to the tumor, so he pushed us to 6 months, again with no change, so we were pushed to 9 months. Her MRI of September of 2009 showed a little bit of growth, but since her vision was still about 20/50 (no change), he wanted to wait 3 more months. Her MRI of December 2009 showed the tumor grew twice its size. We began chemo in February of 2010. Chemo was once a week, and they would not tell me how long they thought she would be on it for. For that time period, I lost my child; she was nasty, cranky, sick. She lost her hair. In May of 2010, she began to complain her vision was blurry. We saw the eye doctor about 4 weeks early who confirmed she could only count fingers. The next day we went for an MRI. The MRI confirmed that the tumor doubled in size even though she was on chemo. Dr. Allen immediately started her on a course of steroids while he decided what should be our next step. In June of 2010 she began her second kind of chemo. The tumor has responded well to this treatment, she has one more treatment to go in this course and if her MRI at the end shows the tumor is stable Dr. Allen will give her a 3 month break from chemo. we look forward to this.
I am so proud of Mary, we have had many ups and downs, many all nighters of throwing up. But her disposition is always happy and cheerful. She (almost) never asked “why me”. She always goes to school with her head held high, even when the kids ask questions as to why she had/has no hair or made fun of her because of it. She is such a brave and awesome child that when I grow up, I want to be just like her.
– Mary’s mom, Kim
