The Time is Now for NF

Here I sit, basking in the glory of something monumental, which has overwhelmingly moved me to write once again after a 2-year hiatus. Friday was a huge day in history for patients living with neurofibromatosis, like my son, Jesse (who is 22 years old now).  In the midst of the COVID-19 pandemic, with all of the closed doors that come along with social distancing, quarantines, working from home, home schooling, furloughs, and toilet paper shortages, a pivotal door was opened that will change things for the NF community for the rest of time. On Friday, April 10, 2020 the Federal Drug Administration (FDA) approved Koselugo (Selumetinib) as the first ever treatment for NF patients. This means that never again will a parent of a newly diagnosed child be struck by the words, no treatments, no cure. Now there is a treatment and forever more NF will be among the 5% of rare diseases which can make this claim. This is big and although it feels like the end of a long and winding road, it is truly just the beginning of greater things to come. The progression of research initiatives, such as targeted therapy clinical trials for NF1, NF2 and Schwannomatosis, gene therapies and biomarkers, are exactly what’s coming and all require more research dollars than ever. Now is the time to take action and invest heavily in our children's futures.

There are explanations for why 95% of the more than 7000 different rare diseases do not have a single FDA approved treatment. The most likely being that rare diseases, those with fewer than 200,000 patients in the US, often lack the interest and attention of researchers and pharmaceutical companies.  First, they don't affect as many people, which means there won't be as great a demand for the drug (i.e. there's less money in it for them). Secondly, many rare diseases are biologically complex and include multiple diverse manifestations, which makes them difficult to study effectively. Not to mention the fact that the lower number of individuals with specific presentations makes it a challenge to recruit patients for clinical trials. These factors make them less attractive, however, they are no less important and no less worthy of research. It was largely because of this that President Reagan signed the Orphan Drug Act into effect in 1983, which provides incentives to drug companies and researchers willing to study them; a bold move that made a difference.

Young NF patients speak to the FDA about what it's like to live with NF (2019)

The foundations and organizations that represent these disease groups, like the Children's Tumor Foundation, are often small, underfunded, and under recognized, yet fortified with creative and strongly invested, passionate leadership, volunteers, donors, and staff. Whatever it is that motivates the people who work for and with rare disease organizations, it is indescribably powerful. It has to be in order for there to be any kind of progress. Annette Bakker, the President of the Children's Tumor Foundation is a true visionary who has made it her life's ambition to cure NF. It had only been a few months into her reign as President of CTF when she stood on the podium of a patient and family gathering and declared, "I'm going to save your children."  It was a courageous statement indeed. It brought tears to my eyes. Likewise many in that room were equally moved. We believed her. We needed to have that kind of hope. Many since have placed unwavering trust in her ability to  lead us to a day when there will be many options for treatment and ultimately a cure for NF. When she called a last-minute staff meeting earlier this week, as a sign of the times, Annette shared the news we'd all been waiting to hear from the little box in a zoom meeting. She became emotional and so filled with gratitude for the entire community who brought us to this day; staff, researchers, clinicians, patients, volunteers and donors. Her humility and strong leadership continue to inspire me, not because she's my boss, but because she's the real deal. She delivers on her promises.

Now we have our first big win, an effective treatment for NF1 patients. So what's next? There are currently close to 70 drugs in the pipeline for all three types of NF, many of which have had promising early results. Neurofibromatosis is now a player on the major league field and no longer resigned to sitting on the bench. Now is the time for things to really get interesting. Now is the start of a whole new challenge. Will all of the research get funded or will unfunded research be left on the table? The COVID-19 pandemic has presented a challenge to revenue for CTF as it has for most small non-profit foundations. However, now is when we are going to need that revenue more than ever. Every single person who has been affected by NF or who has access to funders with an interest in research minded causes needs to get behind this success with substantial commitment. We need to position ourselves and be ready for the next opportunity and the next one after that. This approval will be a catalyst for great things to come. Get ready, gather your resources, share your connections, and dust off your party shoes, the times they are a changing! Together we WILL end NF.

More info:

• ctf.org/mek
• FDA Approves First Ever Treatment for Neurofibromatosis
• FAQ- Koselugo (selumetinib) FDA Approval
• FDA Approves First Therapy for Children with Debilitating and Disfiguring Rare Disease

Pronunciation of Koselugo: co-sell-you-go (you'll recognize the 'selu' from 'selumetinib' in this new name 'koselugo')