When Carly Joseph first heard that her daughter Marissa had vomited at nursery, she wasn’t too concerned. After all, maybe Marissa just didn’t feel great that day. But her worry grew exponentially when she went to pick Marissa up. Her daughter was unmoving and floppy, and – at one point – Marissa even lost consciousness. What Carly didn’t know at the time was that these symptoms were caused by a brain tumor due to Marissa’s undiagnosed neurofibromatosis type 1 (NF1).
According to an article in the BBC, Carly rushed Marissa to the hospital to try to figure out what was going on. Marissa underwent a series of testing. In addition to finding signs of a brain tumor on scans, one doctor also noticed something else. He found that Marissa had flat, light-brown spots on her skin, on areas like her neck. These are a common sign of NF1.
Since her diagnosis, Marissa underwent chemotherapy to address her brain tumor. She is now doing much better. Her mom describes her as a happy, upbeat, smiley girl. Now, though, Carly hopes to raise awareness and also spur research. She hopes that organizations will increase funding into brain tumor research to help others going through the same situation.
About Neurofibromatosis Type 1 (NF1)
Neurofibromatosis type 1 (NF1) is a rare genetic nervous system disorder, and one of three forms of neurofibromatosis; the others are NF2 and schwannomatosis. This disorder results from NF1 gene mutations. These mutations cause a loss of neurofibromin, a protein which plays a role in cell growth regulation. In NF1, tumors – which may be benign or progress to become malignant – form on healthy nerve tissue. Symptoms typically manifest in early childhood. These can (but do not always) include:
- Soft bumps (neurofibromas) on or under the skin
- Tiny bumps on the irises (Lisch nodules)
- Freckling in the armpits or groin
- Cafe-au-lait spots (flat, brown spots on the skin)
- High blood pressure
- Macrocephaly (larger than average head size)
- Short stature
- Attention deficit hyperactivity disorder (ADHD)
- Learning disabilities
- Scoliosis or other skeletal abnormalities