"What's a mother to do with all the worry?"

Author: Katie Sperring, NF California

Published On: 03/21/2022

My experience with neurofibromatosis came when our son, David, was diagnosed 27 years ago after a bump showed up on his torso.  I heard the name Neurofibromatosis (NF) for the first time, but immediately realized the potential of the disorder to impact his life because of an adult acquaintance that had serious disfigurement from NF.   Since NF occurs when a gene doesn’t copy correctly at conception and develops in the neural crest, it can affect any nerve ending in the body. 

NF can be an overwhelming diagnosis because of the high degree of variability and the progressive nature of many of the conditions it causes.  For example, my son has several lesions in his jaw after wisdom teeth extraction, two plexiform neurofibromas which each carry a 10% to 15% chance of turning malignant, and hundreds of dermal neurofibromas which are over growths of tissue that look like bumps on the skin.  The marks and bumps make him very self-conscious. When he was diagnosed at age ten, he only had one visible neurofibroma, some learning challenges and handwriting that looked like a younger child.  The handwriting was from a visual impairment that was helped by weekly vision therapy with a developmental optometrist. 

It was the jaw lesions which developed after oral surgery that required a whole new level of parental involvement to make sure we took the best medical course of action.  We knew we didn’t want to surgically remove portions of the jaw and replace them with titanium plates because the trauma of the surgery was likely to create more lesions.  With the help of our local internist and David’s geneticist, we were fortunate to create a team of committed doctors at different institutions to follow our son through a treatment process that was literally trial and error through a year of infusions followed by several years of daily injections to change his bone chemistry.  David was followed by an endocrinologist with experience in bone disorders, a chief of Oral Maxillofacial surgery interested in this particular type of jaw lesion and a geneticist with ties to the research world.

From my experience with my son’s condition came my involvement with NF California and the NF Network.   We want to improve the quality of life and medical outcome for the people living with NF.   The NF Network’s Advocacy Program has played a vital role in fighting for federal legislation that supports the NF Research Program (NFRP) through the Army’s Congressionally Directed Medical Research Programs (CDMRP) funding, which yielded FDA approval of the first NF-specific treatment called Koselugo in 2020.

Due to the number of different medical manifestations of NF, many other treatments need to be discovered and developed.  Much of what the medical science community learns from NF research can be useful not only to the approximately 140,000 people in the U.S. who live with NF.  The practical knowledge gained from research can also help scientists and doctors treat the broader population for one or more of the shared conditions.

To learn more about the NF Network Advocacy Program, visit this page.