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.

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.

NF is...Awareness, Hope, Never Giving Up

Being that May is NF Awareness month, and the awareness campaign coming out of the Children's Tumor Foundation this year is "NF is," I have posted my interpretations, along with some factual information, on my Facebook page. This is a compilation of all of my posts for anyone who missed them or isn't on Facebook at all.

We started the month just fresh from an MRI, which revealed new tumor growth in Jesse's spine. The upside is that he isn't experiencing any symptoms which would require intervention at this time. The downside is that new tumors are new tumors and we will have to monitor them and be terrified of what they could become.

During the course of the month, a beautiful, 8 year old little girl with NF1, was snatched away from her family very suddenly.  I cry everyday when I read her beloved mother's posts, which she writes in conversation with the daughter whose hair she should still be brushing and whose body she should still be snuggling. She passed on Mother's Day, of all days to lose a child, this particular mother will never again have the wherewithal to celebrate that sacred day. 

May 2 near Midlothian, VA

Jesse Sorman had an amazing first day of NF Awareness month with a $1000 donation, made anonymously by someone I went to high school with, to his personal fundraising page! I got all choked up this morning when I opened my email and saw the notification. We are so thankful for every donation that gets us closer to finding effective treatments that will make Jesse's future with this progressive tumor disorder more manageable. Thank you, you know who you are! 

 #EndNF

May 2 via iOS 

Rockin' NF Awareness Day 2 #EndNF

May 3 · Edited

NF is...unpredictable
We never know what each day will bring. Each time Jesse shows me a new lump or tells me about a new pain, my heart sinks to the bottom of my chest while I smile reassuringly and tell him, "It's probably nothing, but let's get it checked out." I stay in this state of panic and worry until we see the specialist in question and HE/SHE reassures ME or doesn't. One day, too soon, Jesse will carry this burden of worry and uncertainty alone. For now, I carry it for him. 

 #EndNF

Jesse's R4R Personal Fundraising Page

May 8 near Midlothian, VA · Edited

NF is..Perseverance

Most kids with NF have the added challenge of learning disabilities (60%). They require ongoing neuropsychological evaluation throughout their education careers and often have Individualized Education Plans (IEP), which provide accommodations and modifications to their lessons.

As you can see, from his middle school biography artwork, Jesse has not let this struggle define him. The words that are the largest: Animal Lover, NYY Fan, Likes Tacos, are the things that he feels most accurately describe him. The words that are the smallest: have NF, have screws in my knee and legs are different lengths are the least important descriptors.

Although he has always had to work harder, study longer, go to summer school and relearn the same concepts repetitively, Jesse has never let his disabilities hold him back. As a high school Sophomore this year, Jesse made the honor role for the first time! That is what I call perseverance! #EndNF

May 9 near Midlothian, VA · Edited

NF is...Passion

We each find our separate ways to express our passion about NF. If you are Annette Bakker, President and Chief Scientific Officer of Children's Tumor Foundation, you drive research that will change the statement, "no treatments, no cure," to "good treatments, cured for future generations."

If you're a parent, like I am, you post things on Facebook, Twitter and Instagram every single day. You hold fundraising events, organize Walks, attend forums and summits and councils. You get a giant tattoo on your forearm, even though you know that middle class, suburban Moms don't normally do so, just in the hopes that someone, somewhere, will ask you about it. You would proselytize from the street corners, if you thought it would make a difference, at the risk of looking like a loon. You would do anything. And that is the message that Elizabeth and Jake Burke convey in this video about the foundation they started to accomplish all of these things and more. #EndNF

Please take a moment to watch. It is beautifully done, heartfelt and empowering. Today they are waiting for the results of Jack's first MRI since starting chemotherapy for a brainstem glioma; sitting on hopes and prayers that the growth has halted and even better, that there is shrinkage.

Cure NF With Jack Video  

May 11 near Midlothian, VA · Edited

NF is...Responsibility

The Chosen Mothers by Erma Bombeck
Most women become a mother by accident,
some by choice and a few by habit. Did you ever wonder how mother's of children with life threatening illnesses are chosen?Somehow, I visualize God hovering over earth selecting His instruments for progagation with great care and deliberation. As He observes, He instructs His angels to make notes in a giant ledger.......
"Armstrong, Beth, son, patron saint Matthew" Forrest, Marjorie, daughter, patron saint Cecilia "Rutledge, Carrie, twins, partron saint Greard."
Finally, He passes a name to an angel and says,
"Give her a child with cancer." The angel is curious.
"Why this one, God? She's so happy."
"Exactly," smiles God, "Could I give a child with cancer a mother who does not know laughter?
That would be cruel."
"But, does she have patience?" asks the angel,
"I don't want her to have too much patience or she will drown in a sea of self-pity and despair.
Once the shock and resentment
wears off,she will handle it."
I watched her today," said God.
"She has that feeling of self-independence that is so rare and necessary in a mother. You see, the child I'm going to give her has it's own world.
She has to make it live in her world and that's not going to be easy."But Lord, I don't think she believes in you," said the angel.
"No matter, I can fix that.
This one is perfect.
She has just enough selfishness."
The angel gasps, "Selfishness?
Is that a virtue?"
God nods. "If she can't separate herself from the child occasionally, she'll never survive. Yes, here is the woman I will bless with a child less than perfect. She doesn't realize it yet, but she is to be envied.
She will never take anything her child does for granted.
She will never consider a single step ordinary. I will permit her to see clearly the things I see....ignorance,cruelty, prejudice....
and allow her to rise above them.
"And what about her patron saint" asks the angel,
his pen poised in mid-air.
God smiles and says...
"A mirror will suffice

Happy Mother's Day to all of the "chosen" mothers. #EndNF

May 12 near Midlothian, VA

NF is...Uncertainty  

"NF1 is a progressive disorder, which means most symptoms will worsen over time, although a small number of people may have symptoms that remain constant. It isn’t possible to predict the course of an individual’s disorder. In general, most people with NF1 will develop mild to moderate symptoms. Most people with NF1 have a normal life expectancy. Neurofibromas on or under the skin can increase with age and cause cosmetic and psychological issues."

This is what the doctors tell us as newly diagnosed families. I suppose this is supposed to offer us comfort. However, when this disclosure is followed by a baseline MRI and "routine" visits with a variety of specialists to "rule out" a stream of seemingly endless possibilities, it isn't ease to feel any level of comfort whatsoever.

There are many who live with NF who never develop serious manifestations. In fact, I've met more than a few who have lived without the knowledge of having the disorder until they have passed it on to a child who has more severe complications.

On the opposite end of the spectrum, there is the reality of those who are affected in a way that challenges our collective ability understand God's plan. Sometimes, the child struggles from the beginning of her life and then there are those who have minimal affect until that one tumor that changes everything.

As a parent of a precious child, whose future holds such profound uncertainty, I can barely breathe even writing these words.

Research can change the current level of uncertainty. If treatments can be found, we can all rest a bit easier and fear the future less. #EndNF

May 13 near Midlothian, VA

NF is...Misunderstood

"Children with NF1 experience more problems with social skills, anxiety, depression, and aggressive behavior compared to normative means and unaffected siblings on the Child Behavior Checklist" (CBCL; Barton & North, 2004; Johnson, Saal, Lovell, & Schorry, 1999).

In addition, our children can have a variety of disfiguring and often painful conditions, such as Plexiform tumors, Optic Pathway Gliomas, Scoliosis, tibial bowing and chronic migraines. These, coupled with the non-verbal learning disabilities of immature social skills, difficulty reading social cues and taking the perspective of another person, attention and focus issues as well as rumination and perseveration, can result in social isolation.

To put it simply, our kids aren't getting many birthday party invitations and in the later years, they are spending a lot of time alone.

Although my son seems happy enough by himself, I can't help but want more for him. His siblings all lead typically busy social lives and have rules and curfews that will likely never apply to him. The one good friend he had was very similar to him socially and they really seemed to understand one another. But 8 months ago we moved 500 miles away from that one good friend and since then, he hasn't asked or been asked to hang out with anyone even once.

Every adult who meets my son finds him delightful, so why is the perspective so different among his peers? His sister reports that he has a few friends that he sits with at lunch, so at least my vision of him alone at an otherwise empty table is dispelled. He's so kind, caring and sincerely concerned for others, how can these traits not appeal to the other kids? Why is he so misunderstood?

As parents of kids with NF, we already have too many concerns; worrying about their happiness and companionship is just the icing on the cake. We have made a conscientious effort to surround our son with others in the NF community in the hopes that he will always have a place where he fits in just right. Being a teenager comes with its own set of challenges; imagine going back in time and adding physical and social/emotional burdens to all of those pre-existing insecurities. It's a little too much to process, isn't it? #EndNF

May 14 · Edited

NF is...Demanding

Sometimes the demands of NF pull us away from other responsibilities: work, events, home and, yes, even our other children. I blogged about this a few months ago, and in honor of my youngest daughter's birthday today, I felt this would be a good day to re-share that post. #EndNF

Me Too Blog

May 15 · Edited

NF...Sucks!

It sometimes sucks the energy out of us.
It often sucks the joy from our hearts.
It sucks the childhood from our children
And from time to time, it even sucks our hope and our faith away and knocks us to our knees not knowing where to go from there.

This week, NF sucked another young life away; an 8 year old life, and right now it is sucking away her parents' will to carry on.

Dedicated to the family of Nicole on the day after they laid their baby to rest. #EndNF

May 15 near Midlothian, VA

NF is...Spreading awareness wherever I go. #EndNF

Connie Brisson Sorman shared April Anderson's photo.

May 15

#endnf #curenf

May 16 near Midlothian, VA

NF is...Proactivity

Learning disabilities are a common problem in children with neurofibromatosis type 1 (NF1). Over half of children with NF1 have difficulty with academic performance, which can cause them to repeat a grade in school. A learning disability can be thought of as a short circuit or problem (dysfunction) in one or several of channels in the brain. Dysfunction in any of these channels can make it harder for a child to perform up to their potential. (http://nfcenter.wustl.edu/what-is-nf/learning-disabilities-and-attention-deficits/)

A tumor of the nerve to the eye, called optic glioma, often emerges in early childhood, sometimes causing painful bulging of the eye and loss of vision as well as affecting pituitary hormone secretion. These types of optic gliomas are diagnosed by CT or MRI scanning and are generally responsive to radiation treatment or chemotherapy. However, it is not uncommon to find evidence by CT or MRI scan of thickening of the optic nerve in children with NF1 who manifest no outward signs or symptoms of optic glioma. These cases rarely progress to a point of requiring treatment, but all children with NF1 should have annual ophthalmologic exams to insure early diagnosis of optic glioma. (http://www.understandingnf1.org/exp/int_exp_wci.html)

In both cases, early diagnosis is key to successful intervention. As the mother of a son with NF1 and learning disabilities, and the wife of a Neuropsychologist, I am often disappointed to hear that it is not standard practice to recommend Neuropsychological evaluation early and continually in children with NF1. Jesse has been evaluated, by a board certified neuropsychologist, every three years from the age of 18 months. I attribute his academic success, despite the presence of global learning challenges, to early intervention, consistent supportive therapies and aggressive advocacy in all areas of his life. He ALWAYS exceeds our expectations and his intellectual growth under these circumstances has astounded us.

That being said, I am a mother of a child with disabilities; I have concerns for his future. I worry that he will not fulfill his dream of becoming a Veterinary Technician. I am concerned that he will not have an income potential necessary to support the family that he envisions having. At 12 years old, Jesse asked me how much money he would need to make so that his wife could stay home to take care of their children. What I do not doubt is that he will work harder than most to achieve his goals. He discovered early on that learning is more difficult for him, but he never lets that hold him back.

When he was very young, the local neurologist (not an NF specialist), did not recommend baseline MRI. He told us that he would order an MRI if our toddler started showing signs of neurological deficits (bumping into things more than usual, falling down, dragging a leg or having seizures, among other things). It wasn't until he was 7 years old that we understood the importance of having him seen in a designated NF clinic and began driving him to the closest one, 5 hours away. The first thing our new neurologist did was order an MRI.

The results showed thickening of the optic nerve into the chiasm. We were anguished by this news, imagining that by not insisting on an earlier scan, we had put our son's health at risk. His regular ophthalmologic exams did not indicate nerve pallor. We were exceptionally lucky. Jesse's glioma remained mostly stable and never caused any vision loss or need for intervention.

I cannot express passionately enough, how important it is to have every child with this progressive tumor disorder seen by NF specialists in a clinic setting where his/her health care providers will be proactive. #EndNF

Connie Brisson Sorman shared Allison Sovie's photo.

May 16

PublicFriendsFriends except AcquaintancesOnly MeCustomClose FriendsPittsford (town), New York AreaSee all lists...Midlothian, Virginia AreaFamilyMarist Collegeclassmates IFriends IIClassmates IVClassmates VFamily IIfriends IClassmates IIIClassmates IIClassmates VINF FamilyFamily IIIFriends IIINew York, New York AreaNeurofibromatosisEast Haven High SchoolChildren's Tumor FoundationEast Haven High SchoolState University of New York at BrockportAcquaintancesGo Back

#EndNF

May 17 · Edited

NF is...

We hope you can find inspiration to join our fight through this video created to raise funds and awareness for neurofibromatosis. #EndNF #R4R

Jesse's Racing4Research Fundraising page

Connie Brisson Sorman shared Jake Burke's status

May 18 ·

NF is...Real

Real scary
Real people working hard to effect change
Real stories
Real families suffering
Real children and Real adults who deserve more answers
Real hope and Real Courage
Real life Heroes

Read about one of them below. ‪#‎EndNF‬

At the end of this NF journey when we find a cure, my personal belief is that Dr. Bruce R. Korf will be the singularly most important reason for that cure IF we realistically could choose one person. As a desperate father who hours earlier was told that his son had NF, I scoured the internet to figure out who the top person was in the field and then email that person. It was Dr. Korf. I emailed him at 2 AM and HOPED I would hear from him soon. TWENTY MINUTES later I got a response to bring Jack to see him. At that point, I knew Jack was in good hands. I never told Bruce this story but I do today to celebrate him, his life's work and to thank him so very much. His "hero cape" is the real deal. F NF!

Connie Brisson Sorman shared April Anderson's photo.

May 18 · 

PublicFriendsFriends except AcquaintancesOnly MeCustomClose FriendsPittsford (town), New York AreaSee all lists...Midlothian, Virginia AreaFamilyMarist Collegeclassmates IFriends IIClassmates IVClassmates VFamily IIfriends IClassmates IIIClassmates IIClassmates VINF FamilyFamily IIIFriends IIINew York, New York AreaNeurofibromatosisEast Haven High SchoolChildren's Tumor FoundationEast Haven High SchoolState University of New York at BrockportAcquaintancesGo Back

NF is...Optimism and Hope!
‪#‎EndNF‬

5/18:  We were in the Richmond paper today!

Newspaper article from the Monday 5/19, Richmond Times-Dispatch

End of Part I