A few weeks ago my oldest daughter developed a rash on her face. I initially thought it was acne, then eczema, and then…yikes. By the time I got her to her pediatrician it was partially infected and her face was red and swollen. I also had an extremely miserable kid on my hands. As we sat there in the waiting room, my “mommy guilt” kicked in, of course. I should have seen the doctor three days ago. Why didn’t I take this more seriously? What if this is something awful? My husband had added to this guilt (inadvertently of course) with his concern and questions for the doctor that he had fired at me as we drove to her appointment. Unfortunately for us, something as simple as a rash is never simple. Nothing related to her health is easy because our daughter is “medically complicated”.
Natalie has Neurofibromatosis Type 1 (NF1). A genetic neurological disorder, NF1 causes benign tumors (neuromas) to grow on the ends of the nerves throughout her body. NF1 also causes many, many other conditions including scoliosis, learning disabilities, growth issues, deformities, and any secondary issues related to the neuromas invading her body. Natalie’s case is thankfully mild. She has had no learning issues and while she developed severe scoliosis that needed to be corrected with surgery she has had no other growth issues. None of the neuromas are visible necessitating removal and a recent MRI scan showed none in her brain.
Unfortunately, NF1 is unpredictable and every individual with the condition is different. Symptoms tend to arrive in clumps. Some symptoms will be seen before the age of seven, for example. If she didn’t develop those before seven she’s probably “in the clear”. Other symptoms arrive with the onset of adolescence—which is where she is now. So, getting back to our concern over this rash, my husband and I are always watching and waiting for…God knows what.
While I was pretty certain this rash had nothing to do with the NF, every time we go to the doctor NF hangs over us like this heavy black rain cloud. I simply wait for it to open up and drench me. When we discovered that Natalie’s back was in very bad shape that’s exactly what happened. While we sat in the waiting room of the orthopedic surgeon I bolstered myself thinking this was “typical” scoliosis seen in many growing children and could be treated as such. I almost convinced myself that the NF would not even be an issue. After looking at her scans, however, the orthopedic surgeon of course then said, “I’m sorry but I don’t have the expertise to treat your daughter. This scoliosis is directly related to the NF and you need to see a specialist. She’s too medically complicated”. Cue the drenching rain on the mother who then smiled calmly at everyone in the room and said, “of course—can you recommend someone?” while her heart pounded, her ears rang, and her breathing quickened.
Fast forward to last week and, sure enough, the pediatrician looked at her face, took a minute to review her history and said, “I’m going to send you directly to a dermatologist—she’s medically complicated and I’m hesitant to treat her for this not being a specialist”. This time I wasn’t drenched by the rain cloud because I was pretty sure (as was the doctor) that this had nothing to do with the NF. But there it was again…”medically complicated”.
During times of health and happiness I can reflect upon Natalie and the NF and focus on her bravery, her beauty, and her determination to not let this diagnosis impact her life. My daughter’s life is almost completely typical and she has only barely noticeable physical symptoms. We cannot avoid regular checkups, however, and we take Natalie to the doctor often. She has at least an annual (and often biannual) appointment with her pediatrician, ophthalmologist, ENT, neurologist, and orthopedic surgeon. At every appointment the NF is right there—I need to write it on any forms that need updating, include it when reviewing her history, discuss it when we talk about her growth, development, and concerns. There is no way for us to prepare for anything NF may throw at us since it manifests in every person differently. All we can do is wait, wonder, and worry.
My daughter will have to learn how to manage this disorder as she becomes an adult. She will need to have difficult conversations and make difficult decisions about children of her own. She has physical abnormalities that she will not always be able to hide. She will need to learn how to advocate for herself. She will have to understand what it truly means to be “medically complicated”. I know, as her parent, I’ll need to teach her and show her how to do this and I will. In the meantime, I will celebrate her perseverance and hide my worry for her future. I will show her how to dance in the rain.