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.

Dear Potential Future Daughter-In-Law

 

I was in the coffee shop today, sitting across the table from this handsome and earnest young man, when I was inspired to write this letter. We came to work on his resume and perfect his cover letter so that he could land that entry level position after completing his education and becoming a licensed Vet Tech last fall. We were surrounded by young women, sipping coffee, scrolling on their phones or typing on laptops, in groups of two and three, and each completely oblivious to the presence of this young man; the man of the dreams that they don't even fully understand right now. 

Dear Potential Future Daughter-In-Law,

Find the nice guys. They are going to be the ones who you want to be with in the end, trust me. The bad boys may seem appealing now, but they will always be bad boys and they will hurt you, repeatedly. If you’re looking for someone to be in it for the long haul with, look for the young man who treats you respectfully and like the precious and beloved person you were raised to be.

He may be quiet or even socially awkward and he may not appear confident because of this. But chances are that he’s far more confident than the puffed up, arrogant, jackass who seems attractive to you right now. He will probably not even be the one to approach you first. He has far too much respect for you to think he’s even in your league. You may have to be the one to make the first move, but it will be worthwhile and you’ll always have that story to share at dinner parities and to tell to your future kids. 

He will likely have deep affection for his parents and will value his family. This will make him the kind of father that you will want for your future kids. It doesn’t make him a mama’s boy, it makes him sensitive and connected, in a healthy way. The kid who is trash talking his parents and saying, “f@©k the establishment,” may seem weirdly radical and exciting in this moment, but believe me when I tell you that he’s not the man your future self will want making decisions that impact the well-being of your family. And his lack of respect for authority will eventually destroy every relationship he has. It will.

Talk to the understated young man who took the time and made the effort to better himself through education or training that would provide more income stability. He may not have much experience with dating because he was focused on his future for a while and he may not be flashy and able to sweep you off of your feet, but who told that you shouldn’t remain firmly on your feet in a relationship anyway? That other guy, the one who says all the "right things," who has been around the block a few times…it’s only a matter of time before he’s bored and he’s moving onto the next block and saying those things to another unsuspecting young lady. 

Look for the guy who isn’t driving the fancy car or wearing the expensive clothing because he’s probably more concerned with saving his money and building his future than he is with appearing impressive. He’s the responsible one. He’s got a plan, and things like providing for a future family and buying a home are more important to him than they are to that pretty boy sitting behind the wheel of a flashy sports car. In fact, he’s probably even thought about things that seem so distant...like retirement and how to enable his wife to be home with their kids instead of at work and daycare, if that’s what she wants. And he’s spent time thinking of these important things before he’s even gotten a job or gone to school. He’s the guy you want in your life when you’re old and earned the right to be comfortable in life. He’s the one who won’t leave you alone to fend for yourself after you’ve given him everything of yourself.

Lastly, this guy, the respectful, kind, stable, and responsible young man I’ve been describing, he does not need you to be flashy and fake either. In fact, he doesn’t want you to be. He prefers the natural beauty that comes from being an empathic and genuinely caring person. He won’t be looking at the girls with their tight clothes and all their things popping out all over the place because he’ll only have eyes for you. He will be attracted to your honesty, your devotion, your kindness to others, to the things that make you a good person, not things that make you a trophy. But the funny thing is that you will feel like a trophy because he will cherish you and love you like you never imagined you deserved to be cherished and loved. And that will guarantee that I too will care for you deeply. We will be great friends!

With love,

Your Potential Future Mother-in-law

A Whole New World – Transitions

 Take a deep breath... hold 1, 2, 3...repeat

When your baby is born with a lifelong, progressive, genetic condition, you learn quickly, and often without realization, how to navigate the medical system. You become a strong advocate for your child and you find that you will stop at nothing to protect his interests. It becomes a part of your own identity, as it did for me. My son has neurofibromatosis, type 1 and I’m an NF Mom. Neither of those facts will ever change, however, once he became an “adult” in the eyes of the system, my role suddenly and swiftly, changed so completely. To clarify, my role shifted in respect to the system, but in my heart and in my brain, being his champion hasn’t changed one iota.

In our case, the changes were a bit delayed because his medical care was paused during the global pandemic. We had already made the decision to transition his care to the adult NF Clinic at Johns Hopkins in Baltimore, MD prior to the start of the pandemic. We loved his team at Children’s National Medical Center and he had great care there, but at some point, being in a room with cartoon characters on the walls and waiting areas filled with young children limited his ability to feel grown-up. They would have continued to see him there for many years, which we were grateful for. I’ve heard others’ horror stories about being cut off suddenly at the age of 18 and scrambling to find alternative care. We feel fortunate to be relatively close to an adult center of care and saw the opportunity to establish him as a patient there just as the world hit the pause button and maintenance care slowed to a halt. When things started to reopen, our emerging adult was navigating the final phase of his education with a hybrid model of online lectures and in-person labs. He was focused on his goal of graduating as a licensed Veterinary Technician and because of NF, that was enough at that moment. With NF-related learning challenges in addition to the adjustment to online learning and finding his way while living apart from his family during the everchanging pandemic landscape, his hands were full. Because it’s important with NF to have regular check-ins due to the progressive nature of the disorder, this meant that he would have some catching up to do after graduation.

Despite every obstacle thrown his way, he did in fact achieve graduation and just a few months later, he passed his licensing exam to become a certified LVT! And without a moment’s rest, he began the process of managing his own care, with so much to coordinate at an out-of-town facility. Without hesitation, he rose to the challenge and mostly independently started transferring records, scheduling appointments, setting up MyChart, and getting the ball rolling for his transition. Of course, he had questions, needed input based on my ability to transport him, and on occasion, put me on speakerphone with someone who was impeding the process. He was learning and I quickly realized he’d been learning all along, I just hadn’t seen it clearly. I started to recall times when he’d truly been his own advocate and understood that he’d picked a few things up along the way. Understandably, twenty-four years of care had prepared him for this day.

I remember a time when the pediatrician had noticed something night quite right, which resulted in a visit to the urologist. At the time, we lived in a city that did not have an NF Clinic and we had to see someone without much experience in the world of neurofibromatosis. The provider examined him and fumbled through the appointment, bringing in a few of his colleagues to provide their opinions while subjecting, a then pre-teen boy to some pretty humbling stuff with his mom sitting just on the other side of a curtain. When the examination was finished and I’d rejoined them, said provider proceeded to reach out to shake my son’s hand. Without taking a breath, the immediate response to this was, “Aren’t you going to wash your hands?” After he washed up and regained his composure, the doctor began to explain what the next steps should be and outlined a plan for exploratory surgery. At just 12 years old, my son listened respectfully and then asked, “Don’t you think we should do an ultrasound or something before we think about surgery?” Bravo, young man! You were indeed learning how to self-advocate all along and here were two powerful examples of that!

Within a short period of time, this incredible, resilient, remarkable young man had a visit with the clinic coordinator scheduled and afterward proceeded to schedule 4 MRIs, an ultrasound, and set up new patient appointments with a plastic surgeon, neurologist, geneticist, and a neuro-ophthalmologist. It wasn’t easy and there were a few that needed to be rescheduled. He had to learn about things like how many days apart you need to schedule scans with contrast and how many areas can be included in one scan, but he dove in and he got it all done. This was a huge step forward in his transition to adulthood and adult care and he surpassed my expectations. 

After the consultation appointments, there was additional follow-up, which he also managed on his own. He scheduled surgery to remove several dermal tumors before they could get any larger and as a result had to coordinate a pre-op visit and a COVID-19 PCR test. In addition, he reviewed and consented to take part in a full-body MRI study for early detection of MPNST. And he’s since had to schedule and reschedule follow-up scans as well as the surgery date and PCR test date. Surgery day was the icing on the cake for this new world of transition.

We drove up to Baltimore a few days before so that the COVID testing could be done at a Johns Hopkins facility. The day before he was to report to the outpatient surgical center, he received a call from one of the staff to review the instructions and preparation. He put the phone on speaker and let the nurse know that his mom was also there. She asked a few questions, which he answered, and then she asked which part of his body would be operated on. He stumbled a little and I pitched in, to which the nurse said, “I’d prefer to hear directly from the patient when possible.” Well okay then. Touché and thank you for your insensitivity by putting this fragile, feeling-a-little-less-relevant mother of a 24-year-old on notice. In hindsight though, that was good preparation for what was to come on surgery day. 

The reality was that because of COVID and surging cases everywhere, the surgery center waiting room was closed. They were not permitting adult patients to have anyone with them during procedures. This meant that I would have to drop my son off and drive away to wait it out...offsite...alone. I went directly to my social media for support: 

"What a strange feeling after a lifetime of being his advocate/his champion and holding his hand through every appointment, every scan, every procedure, every surgery. Today is surgery day and this young man is practicing his independence, maybe a little more quickly than he would have in our pre-COVID world. He was so brave and flashed that famous smile of his to reassure ME just as he turned to go inside…alone. I blinked and the tables turned. I’m currently processing all of the feelings that go with this transition, and there are so many.”

And then I started writing this blog. Granted, I’m finishing it a few days afterward, but blogging is my way of processing and coping with the conflicting emotions of being less relevant in my role as his caretaker and being so incredibly proud of the man that my child has become. One of my very inspiring friends, someone who has been to Hell and back, responded to my social media post with, “I'm so sorry you have to experience this.......and even more sorry for Jesse. But he is so brave! So full of strength and life! You helped cultivate that. You have to feel pride and joy somewhere under the fear and darkness.” Which is exactly what I needed to hear at that moment. I had indeed prepared him for this day and in the process, I’d prepared myself too. My role may have changed, but I am prepared to champion him and his cause for all of eternity. This leg of the journey is a little uncomfortable because it’s unfamiliar territory, yet I have a feeling that the pride I feel in his ability to handle everything that comes his way is what is going to get me through this and everything else that follows.

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')

Big Steps, Small Victories

From the moment a baby is born, we begin the preparations that will gradually, over the following 18-21 years, if we did our job well, lead to adult independence. When the baby is diagnosed with a neurologic genetic disorder and the list of possible manifestations includes some pretty scary stuff, the normal course of events naturally gets cloudy.  For many years, I did not know that my son would ever become an independent adult. Today, I waved from the front porch as he nervously drove down the driveway toward his first rented space away from home, a very big step. When he was out of view, I went inside and melted into a puddle of tears and uncertainty on the foyer floor.

He was just 6 months old when the neurologist confirmed the neurofibromatosis diagnosis. I was told to take my baby home and love him and enjoy him. He said, "Don't search it on the internet. You won't like what you see." There were no treatments and there was certainly no cure, so the only option was to watch for changes and wait for symptoms.  He even sent me a packet of information with a note taped to the front page, which let me know that there would be no purpose in actually reading any of it because it wouldn't change the outcomes, it would only cause me more worry.  He didn't tell me what to watch for and he didn't mention how long we would have to wait. I actually did not read the packet of information, I tucked it into a drawer and left it there, but I found a pamphlet inside from the National Neurofibromatosis Foundation (NNFF, now Children's Tumor Foundation) so I visited their website and found our community.

The first 3 years of his life were a blur of missed milestones, evaluations and therapists. NF not only causes tumors, deformities, chronic pain, deafness, blindness and increased risk of cancer, but 60% of the cases come with the added bonus of learning disabilities and developmental delays.  Our only power was in our ability to be proactive about his learning and do everything we could to stack the odds in his favor. Therapists came to our home for the first 18 months and he began in a developmental preschool by age 2. From then on, he went to school, on a bus, 5 days a week and received physical therapy, speech and language therapy and occupational therapy as well as small group instruction. He continued to have regular therapies and specialized education throughout his school career right up until 12th grade graduation. He had 12 month programming for many of those years and the evidence of success came through the school reports which documented progress.  He didn't spend his summers learning sports or enjoying sleep away camps, he spent them cementing his learning and struggling against regression. 

Does that mean our son missed out on being a kid? In some ways he did, but we found balance. We searched out creative solutions and found summer schools where he could spend half the day in a YMCA camp with extra support, signed him up for adaptive sports teams, put a swimming pool in our backyard and played outdoors as a family.  From age 12 through 16, he even flew solo, cross country, each summer  to spend a week in summer camp with other kids who shared his lot in life. His childhood was as normal as it could be without sacrificing his potential. The goal was to give him every opportunity to have a fulfilled and autonomous adulthood in which he could provide for himself (and a family down the road). And now here we are, in yet another of those big moments which lead to small victories.

Tonight is the first night that this almost 21 year old man will sleep in a rented room and practice his
self-sufficiency. We did right by him. He may not have had the same experience as other boys along the way, but the other boys were not on the same playing field he was on. His life was fraught with extra challenges and he overcame them. We watched for changes and we waited for symptoms, but we didn't stop fighting while we did it; we fought harder. We surrounded our son with a community of people who understand him so that he would never feel alone or different and we found ourselves a family.

My tears of uncertainty as he rounded the bend earlier today are not for lack of confidence that he will do well. I've seen what he can do. My fears and my ambivalence are grounded in how the world will treat him without my watchful eye to protect him. I'm just going to have to trust that we did all we needed to do to equip him to fend for himself. I will put my faith in his ability to figure out whatever we missed and to know that he has our support and love every step of the way.

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.

Gone

Gone worry, anxiety, fear’s ache.

Gone healing’s hope and triumph’s take.

Gone past struggles, deceptive pain.

Gone future goals and dreams unattained.

Gone parents' dreams for their son.

Gone conclusion, ambitions undone.

Gone big brother to protect and defend.

Gone uncle, cousin, grandson, nephew, friend.

Gone potential white walk down the aisle,

New daughter to love, unborn grandchild.

Gone wholeness of a heart now forever blue.

Gone every certainty understood to be true.

Gone laughter, humor, devilish smile.

Gone ours too, for a long while.

Gone suffering, gone affliction, gone anguish, gone fight.

Gone promise, gone aspiration, gone existence, gone light.

Gone days without tears.

Gone

Gone

Gone…

Because you are gone…

And we are still here.

Brandon’s Mom

Connie Sorman

In memory: Brandon Roat, 2.2.1992 ~ 2.13.2017