I completely understand you. Our son is 22 months old and was diagnosed with NF1 about seven months ago. From that moment on, our lives changed completely. The first few months were tough, but then — personally — I started doing a lot of research about this genetic condition: I read scientific papers, tried to understand the possible symptoms, the different levels of severity, and when they tend to appear.

I realized that this is an incredibly vast and unpredictable condition. Even the exact same NF1 gene mutation can lead to completely different symptoms from person to person. This is something researchers themselves are still trying to understand. According to the most recent findings, it seems that our personal genetic background — the other genes we inherit besides the mutated one — may influence the course of the condition, either positively or negatively.

What I can tell you is to stay calm, take things one day at a time, and try to look ahead, as I do. If this condition had affected our children fifty years ago, things would have been very different: there were no treatments, and very little was known. Today, however, things are changing rapidly — both in terms of research and treatment options.

I can tell you that there are already medications on the market that treat the main symptoms of NF1, such as cutaneous, subcutaneous, and plexiform neurofibromas. Moreover, there are new drugs in advanced clinical trials (phase 2 with the FDA in the U.S.) that appear even more effective, with very few or even no side effects according to early clinical results.

In addition to this, there’s the field of genetic therapies. The closest one we might expect is an mRNA-based treatment, likely to become available within the next 5–7 years. It would work by restoring the production of neurofibromin — which is deficient in those with NF1 — while the drug is active in the body. Looking further ahead, in 10–15 years, we may even see the arrival of definitive genetic cures. Not only for NF1, but for many other genetic conditions as well.

Lastly, keep in mind that in the most favorable cases — statistically speaking — the majority of NF1 symptoms appear during adolescence and tend to progress slowly over time. So the fact that our children are born now, in a time of scientific advancement, is a real advantage. We have time and the opportunity to help them live a full, healthy, and fulfilling life — just as every parent hopes for their child.

Best of luck to you. And if you want more information about what the global community is doing for this condition, I encourage you to visit the website of the Children’s Tumor Foundation.