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.

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')

Ending NF: What does it mean?

I was honored to be invited to submit an article for the Spring 2017 edition of Inspire Magazine from The Tumour Foundation of BC (formerly known as BCNF) about what Ending NF means to me. You can find the magazine here: !NSP!RE

Ending NF: What does it mean?

By Connie Sorman

When I stop to think about what it would mean to End NF, the thoughts get tangled as they intertwine in their complexities.  Does Ending NF mean that there would no longer be people diagnosed and living with the disorder? Does it simply mean that there would be an array of effective and safe treatments, which would make the many different manifestations of NF manageable? Maybe the meaning would encompass the ability to stop tumors from growing in the first place—genetic modification. Or perhaps, Ending NF would be ending the stigma and the lack of knowledge surrounding the disorder, making NF as known in the public eye as MS or MD or Diabetes and those living with NF would feel valued and validated by society. It would mean that nobody lives with NF in isolation and that there would be many choices for well-informed physicians to treat NF patients and approved treatments to provide to them.

I don’t know what End NF means to anyone else, but I’m not very literal in my interpretation. What I have chosen to fight for, as the mother of a child, now grown to be a young man, is to end stigma, increase knowledge, educate others, spread awareness and provide support to those living with the disorder. In addition, I advocate for research funding, I do what I can to raise money on my own and I volunteer.  While I hope that one day there will no longer be people living with NF, I am realistic enough to understand that this is unlikely to happen in my son’s lifetime. Having said that, it thrills me to know how far the research has come in the 19 years since his diagnosis.  The first time I heard the name, Neurofibromatosis, my son was an infant, just 3 months old. At that time, not only were there no treatments, but there were also no clinical trials yet identified for potential treatments.  I remember hearing of the very first trial that showed promise in mouse models and I dug up whatever I could find to fuel my hope that learning disabilities, my son’s most prevalent manifestation at that time, could actually be reversed.  He was too young to participate in the trial at first, but as soon as he was able, he did.  Although the research is ongoing for that particular study after 10 years, I still have optimism about it and it holds a special place for us because he was a part of its history.

Today there are many studies for a variety of different symptoms related to the three types of NF. Scientists are working together for the first time in NF history through clinical consortium and Synodos efforts to collaborate on interdisciplinary, multi-institutional, translational research. There are drugs showing significant tumor shrinkage and are very promising to be offered as approved clinical treatments in NF1 in the foreseeable future.  There are medicines that are reversing hearing loss in NF2 patients.  We have the science, the researchers, consistent funding, passion, enthusiasm and incredible hope among us.  We have the ability to End NF and we will. The progress is quite remarkable and for the first time since 1882 when Friederich Daniel Von Recklinghausen recognized NF by describing two cases of multiple neurofibromatosis, we are on the brink of Ending NF in the very real sense that will most directly impact those who are living with it every single day.

What are you doing to End NF? Here are some suggestions:

·      Join the NF Registry! Go to www.NFregistry.org and register every member of your family who has been diagnosed with NF.

·      Volunteer at a local event, symposium, NF clinic or create your own fundraising event. Go to www.ctf.org to find resources, ideas and opportunities.

·      Spread Awareness! Wear an NF shirt or wrist band, ask your government to recognize May as NF Awareness Month, get buildings, monuments or bridges to “Shine a Light” on NF in May.

Things You Might Be Surprised to Know About Me – The Activist Mom

It is that time of year again, Walk season. Every year, just as the summer winds down, days start getting a little shorter, nights get cooler and everyone else is buying new shoes, pencils and backpacks to go back to school, I enter Walk-mode.

Walk-mode has varied for me over the years. I’ve evolved from the passionate, yet sometimes irrational lady that people would cross the street to avoid because I was likely to assault them with a contribution shakedown. In those days, I was pounding the pavement night and day searching out raffle prizes, sponsorships, volunteers to man the food table, food donations, media contacts, and anyone in the business of entertaining children with balloons, face paint or crafts.  I was a walk organizer. In those days, I was also a pursuer of funds, although my focus on this was less intense. Without which, my walk would be a fantastic community building event, also very important in and of itself, but it would not be responsible for putting a drug in a clinical trial or for funding a grant to provide much-needed research.

These days, due to other charitable responsibilities that I’ve assumed over time, I am mostly the former-the pursuer. This often puts me in the awkward position of feeling unpopular and obtrusive.

If you have met me, or someone else like me; the person you’ve exclaimed to be a Super Mom, a go-getter, someone of extraordinary strength and abilities…You may be surprised to know these things about me:

1.    I’m shy at heart. I was born a shy person. I was the quiet kid in school who often didn’t raise her hand or want to be noticed.  Focused attention was painful for me. This all changed when my child was diagnosed. It didn’t happen in a flash of profound awareness. It happened gradually. As my child had more struggles to face, more obstacles to overcome, I became more vocal.  Little by little, I emerged as the person you see doing television news interviews, visiting my Senator’s offices on the Hill or standing on a podium addressing a crowd of people, all the while praying that someone will hear the terror in my voice, will know the sincerity of my message. I may make it look easy, but it is still grueling.

2.    Asking you to give your hard earned money to my cause is agonizing. I know how you labor for your money. I know how tight a family budget can be (insurance helps, but it doesn’t cover a lot of our son’s medical needs). I know you have other requests, from other equally loved friends and family members, whose causes are also important.  Please know that when I ask, I don’t do so lightly. It takes a sizeable amount of humility and a healthy dose of desperation to send you that email or tag your name in a social media post.  I hate doing it.

3.    Asking for your time is even worse. We are all busy. Time is a precious commodity. I worked and raised kids, I know. Requesting that you put aside your own family, your obligations and your billable hours, gives me hives. If I ask you to join our walk team, sign up for an event in your area, or volunteer at one…I will be chugging Benadryl- no joke.

4.    I’m not as calm, composed and pulled together as you may think I am. I am really just a mess with decent organizational skills that I was forced to adopt.  My knees shake when I have to speak in front of people. I practice my spiel in front of the mirror before a big meeting. I am usually juggling priorities and trying to catch my breath just like everyone else, and I get really stressed out, but I work painstakingly at making it look easy so that I can convey my message with confidence.

5.    I would change it all in a heartbeat. Usually, the author of a column such as this would say that despite the hardships, heartache, and strife, she wouldn’t change a thing. I am trying to be exceptionally honest here and I am telling you that I would change everything if given the chance to take this diagnosis out of the equation and give my child a level playing field in life. That isn’t something that is easy for me to admit. You probably think that my cause is my identity and who would I be without it? Honestly, I don’t know who I would be because that wasn’t my journey in this life. Maybe I would still be the shy, disorganized hive-free girl of my youth, maybe not.

It also means that I would not have met the incredible and inspirational people I’ve come to know along this path. These are the people who I now consider as beloved as my own family.  We understand one another better than anyone else in our lives does, including our own parents. We have supported one another in good news and have held hands and wiped each other’s tears with the bad. They are the people who will understand these words more impactfully than anyone else will. Yet, even though changing everything would include eliminating these precious relationships from my life, I would do that. Because doing so would impact my son’s ability to play sports, ride a bicycle, go on dates, be invited to parties, kiss a girl, hang out with friends in the casual way that other teens take for granted, not have a roster of specialists, need regular MRIs, an IEP, medication and the need for me, his Mom, to step far outside that zone of comfort on a regular basis to be the person who feels a need, while in Walk-mode, to make disclosures like this one.

I hope that knowing these things about me makes it a little easier for you to tolerate my seemingly endless capacity for badgering. With any luck, you won’t immediately skim over my social media pleas, won’t cross the street when you see me coming or avoid my emails and calls. Instead, maybe you will respond. Maybe you will be honest with me too and just tell me that it’s not a good time, that you appreciate my discomfort, would like to help me with my cause, but that you aren’t able. Or maybe now you will understand that even making a small donation will speak volumes and will make it all worthwhile for me. That when you respond and you don’t avoid and when you show even an inkling of support, I can get up tomorrow morning, smile at my son and put my big girl panties back on to face another day outside of my comfort zone.

Fighting NF on Capitol Hill

On Friday, February 24, 2016, I was pleased to be a Guest Blogger for Children's Tumor Foundation on the topic of NF Advocacy!

If you've ever wondered what is involved in being a political advocate for a cause, this blog post may just answer your questions. 

"There is something very powerful in knowing that you have a voice with important issues and that you can be heard. For me, NF Advocacy has become not only my right, but my responsibility as a mother..."

I kNow a Fighter...or Two...

I kNow a Fighter

I know a teen-aged boy with a million dollar smile.

He loves dogs and playing Xbox.

He is happy; existing as though he has no worries.

He has tumors throughout his body and he always will.

He knows no self-pity.

He is a Fighter.

I know a sparkly girl, who adores pandas and going to the car races.

She has a tumor in her brain and she is maturing more

quickly than the girls she loves to go swimming with.

She never complains.

She is a Fighter.

I know a brother and sister with a twinkle in their eyes.

Reading is his passion and hers is for animals.

They were born with a genetic condition.

His neck tumor threatens his ability to swallow or even breathe.

He is on a waiting list to try a treatment that may not even work.

They put on capes and they lead their 

community in a charity walk.

They are Fighters.

I know a daughter graduating from high school.

She is compassionate and kind and loves

making her friends laugh.

School work is harder for her. It doesn't stop her from trying.

She educates the public about the disorder that

Caused her brain surgery.

She is a Fighter.

I know a son who will study engineering in college.

Music and friends, being a typical teen are what matter to him.

He has had 14 neuro-surgeries in 7 years.

The disruption in his life is unacceptable, but is not a barrier to his future.

He is an ambassador for the cause and when he speaks,

He inspires.

He is a Fighter.

I know a tiny girl who sings and hides her face from the camera.

She likes girly things, teasing her brothers and pulling at heart strings.

She has never known a day without pain

Or a life without struggle.

She is a Fighter.

I know a courageous mother, a proactive father, a supportive Grandma, a Devoted sister and 

An Aunt who always shows up.

Inside, their fear knows no bounds.

Outside, they only show strength and perseverance.

They organize, fundraise, advocate, study, investigate, educate, run, walk, swim, bike, hold hands, wipe tears, and pray for eachother.

Meanwhile, they smile and they never lose hope.

They are Fighters.

I know a Foundation. It's colors are blue and green.

There are scientists, researchers, leaders

And a board of directors.

There are managers and program directors, coordinators,

Team leaders and interns.

And there are volunteers.

Each works passionately toward the same goals.

They support those living with Neurofibromatosis (NF):

Providing tools for activism and empowerment,

Events for funding and community building,

Campaigns for advocacy and awareness,

And most importantly,

They research

For 

A

Cure.

They are Fighters.

I know a donut-loving friend with bones that don't easily mend,

An undie running young man with big personality and limited mobility,

A pageant winning beauty with spirit and pride,

A legally blind canvas painting prodigy with philanthropy,

A rugby playing paralympian with an alter ego,

A softball loving little princess with an amputation,

A curious crew leader with a big heart and an eye patch,

An aspiring disc jockey with a shy smile and learning disabilities,

A mini, wise-cracker with big guns and chronic pain,

A debuting young video director with a cheek tumor and an aneurism,

A tough, Irish golfing fan undergoing chemo therapy,

A baseball slugging little man with a mischeivious grin and low muscle tone, 

And I know angels...

With butterfly garden memorials,

Lives interrupted,

Dreams abandonned,

And greiveing families.

I think it's safe to say that I know a Fighter...

or Two.