The Time is Still Now for NF – 4 years later

 

    I’m not here to share my son’s story of living with neurofibromatosis. Jesse’s an adult and his story is not mine to tell. But I have my own story. Mine is the story of a mother who raised a child and supports an adult living with NF1. My story is about advocacy on many levels, unabashed fundraising, spreading awareness however possible, and most importantly, about unyielding hope.

    Four years ago, just after Koselugo was FDA-approved as the first treatment ever for children living with NF1, I wrote a blog post sharing my perspective of promise and enthusiasm and demanding action by everyone affected by NF. That day, I wrote from a place of deep longing for a movement that would begin shaping a more promising future for Jesse and the 4 million other people worldwide like him.  I also personally vowed to deepen my own commitment to doing my part. I’ve never been one to sit on the sidelines waiting for someone else to make change, but on that day, I pledged to step up my game.

    Since April of 2020, there has been a shift. More researchers are interested in NF, pharma companies want to invest in treatments for NF, and more people are digging deep and resolving to be a part of the successes.  Here’s what I know has changed...

A second drug is awaiting FDA approval, this one to treat children and adults with NF1.

A topical cream to shrink cutaneous neurofibromas (tumors on the skin) is entering phase 3 of clinical trials and is highly likely to be approved in the next 2 years.

The first NF platform trial for NF2-SWN is significantly shortening the process and decreasing the costs of drug discovery.

There are momentous advances using biomarkers, which have tangible outcomes for my son and so many others. Imagine knowing that a tumor is more likely to become malignant just from a blood test! No unwarranted scalpels or risky surgeries. Developments using AI and gene therapy are not far behind.

NF is becoming known. It used to be unheard of to tell someone about my son’s diagnosis and be met with a nod of understanding. More and more, I am hearing, “I know someone else with that” or “I heard about that.” And because more people know about it, more people will want to help, which will translate to more research dollars, more clinical trials, and more FDA approvals; in short, more options.

    Recently, the grandfather of a young man living with NF told me that he appreciated my work and he looked forward to working together for many years. I responded that I hoped it wouldn’t be too many years. I said, “Let's just end this thing and put me out of a job.” For the first time in my 27 years on this journey, I can actually visualize that day. 

    We are closer than ever before and because of that, The Time is Now, it’s still now, it will be that time until the day comes when mothers, fathers, grandparents, families, and friends of those who so courageously fight this battle can live out their days free from the fear and anxiety of not knowing what’s next. I am forever hopeful that my son will know a life like that one.