The May morning five years ago our son Noah, then three, was diagnosed by a geneticist with scoliosis, we were devastated. We knew the bone abnormality along with his café-au-lait spots confirmed he had neurofibromatosis, a spontaneous genetic mutation in his case. When the geneticist referred us to an orthopedist and an opthamologist in Austin but said that if it were her son, she’d go elsewhere for NF care, I suppressed panic. We drove home keeping it together for Noah and his fraternal twin brother Isaac. Later that morning Noah smiled up at me and said, “Don’t worry, Mommy. Your guardian angel will take care of you.”
I could see the orthopedist knew. The day before Noah’s first MRI, I kept thinking, “Tomorrow everything changes. One more day of ‘life before we knew Noah had a tumor.’ ” He was right. The MRI showed an extensive plexiform neurofibroma in the thoracic spine region. It wraps around major bronchial passages and his aorta. It has deformed his right lung and reduced pulmonary function. With its many branches and major blood vessels involved, it’s inoperable. Even if it could be removed, healthy nerves would have to be removed, too, and it could grow back. Regular MRIs show it’s growing but in a “good” direction where there’s “room.” If it starts growing into his spinal cord, he’ll have surgery to debulk that section, or risk paralysis.
The best “elsewhere” we could come up with was the NF clinic in Birmingham, AL to see Dr. Bruce Korf, a world-class NF expert and human being we’d previously been in contact with by email. In sharp contrast to my experience trying to make appointments with specialists in Austin sooner than two or three months out and breaking down on the phone, I emailed Dr. Korf early in the week with details about Noah’s tumor, and got a reply almost immediately to say he was willing to see Noah as soon as that Friday.
The whole family traveled from Austin to Birmingham, where we stayed at the Ronald McDonald House, for a full day of appointments with Dr. Korf and other specialists including a neurosurgeon who explained why the tumor was virtually inoperable. With all we learned, the trip was worth it. We continued traveling to Birmingham every six months until Noah started an experimental drug trial in Dec. 2008 at Children’s Hospital Boston (where I have family). The drug trial was a long and at times grueling experience. In the summer of 2009 Noah was dropped from the study because his tumor had grown too much.
Although there are other drug trials Noah qualifies for because his tumor is still growing, we will not put him through another one for the time being. We don’t want to jeopardize his quality of life, which is actually pretty good right now. As Dr Korf said recently, “We need to treat the child, not the MRI.”
Throughout this journey we’ve always adjusted to “the new normal” as Noah has gone through bracing and serial casting that failed to stop the rapid progression of his scoliosis and then the experimental drug trial that failed to stop the growth of his tumor. I realized just how much we’d gotten used to when one MRI nurse after another came by just to chat with Noah. I sensed deep concern behind their overly bright smiles and was convinced they’d seen something awful they weren’t at liberty to tell me. As it turned out, what they saw was what we’d been seeing in MRI images for years. I understood their reaction.
At six, Noah had growing rods implanted to correct his scoliosis, to great success. All is going as well as we could hope with twice-a-year surgeries to lengthen the rods so that his spine can grow.
With all he has to handle, Noah’s amazing spirit shines through. Recently I asked him, “What’s hardest for you about having NF?” as I lay beside him while he waited for medication to relieve his back pain, and he answered, “Well, I can’t win races. I’m always last.” So we considered what he’s good at, and he exclaimed, “I could win a corn-on-the-cob eating contest!” It doesn’t matter that he couldn’t; in that moment he was a winner. Where I had thought I was the one shifting his focus to the positive, it was really the other way around.
The future for a child with NF is a huge question mark. For the parents it’s a balancing act, being positive and hoping for the best while being thoroughly informed about all possibilities. Here’s what we hope for Noah. We hope his growing rods keep his spine straight until he’s ready for spinal fusion, several more years at least. We hope he doesn’t lose a lung. We hope his plexiform neurofibroma doesn’t become malignant. We hope it stops growing. We hope all the cutaneous neurofibromas appearing on his body stay small. We hope he will grow up to be “a veterinarian in the morning and a geologist in the afternoon,” just as he plans.
We hope he never gives in to despair, that he never loses his sparkle. We hope for a cure.
– Noah’s mom, Tracy
Ed note: Throughout the month of May, NF Awareness Month, we’ve shared Stories of NF, the real-life stories of individuals and families battling and overcoming the challenges of living with the disorder. Due to the overwhelming interest the stories generated, and the support they provide — both to those whose stories are published and those who can relate to the challenges — we’ve decided to continue running Stories of NF throughout the year. If you have a story you’d like to share please send it to ggleeson@ctf.org with a picture of yourself or the family member battling NF. Submissions should be approximately 500 words (but can run longer if need be). Thanks to all who have shared their story, to all who’ve read the stories, and all who’ve helped make this an incredible NF Awareness Month.
