Tuesday, April 25, 2017

Preparing for May: we start NF Awareness Month with a return trip to NIH and finish it with a marathon

Running Update

5.0 mi

7.5 mi

10.0 mi

3.3 mi

1800.0 m


7.5 mi

2000.0 m


5.0 mi

20.6 mi

2000.0 m


3.1 mi

Just over a month until the Vermont City Marathon in Burlington over Memorial Day weekend!  I’ve been on track with my training this season—hoping it pays off.  I’ve never run this race before.  The route overlooks Lake Champlain and the Adirondack Mountains, so the scenery should be beautiful, but I’m nervous about the hills.  The VCM’s equivalent of Boston’s “Heartbreak Hill” is a climb up Battery Street at mile 15, their so-called “Assault on Battery”.  Yikes!

Jane Update
A follow-up to my last post about the fundraiser at Jane’s elementary school last month:
Jane and her schoolmates ended up raising $407.05 for the Children’s Tumor Foundation!  The President of CTF wrote a personal thank you note to the school, and included a picture of herself in a crazy hat :)

Next up for Jane: her upcoming 6-month check-up at NIH.

I’ll note that this is provided there is no government shutdown this weekend, which has become a concern before our check-ups more often in recent years.  So far, our lawmakers have always seemed to get their act together in time, but I'm nervous this time around with the new and unpredictable administration.  The National Institutes of Health is a government-funded institution, so some services may be on hold if the government is not funded.  In the past, we’ve been told that appointments would only be cancelled for new patients, but we can never be sure.
(If our visit is postponed, I may still go down to DC anyway, just to raise heck with the politicians responsible!!)

Here is the itinerary for our visit.  “PreCycle41” indicates that we’re about to start Jane’s forty-first 28-day cycle of medication.

Sun 4/30
Arrival day for PreCycle41 visit

Staying at the Children’s Inn
Mon 5/01

8:30am– Vital signs (3 hts, 3 wts) and Labs, Pediatric Clinic, 1st Floor
9:00am-11:00am– Eye exam with Dr. Bishop, Out Patient Clinic, 10th Floor
             Lunch Break
11:30am– EKG, Radiology, 1st Floor (or anytime during free time)
12:00pm– Physical exam with Andrea [our nurse practitioner], Pediatric Clinic, 1st Floor
1:00pm– Cardiac Echo, 5NE, 5th Floor

will need Ativan prior *
3:00pm– Unsedated MRI (Face, sinus, ENT), Radiology, 1st floor

Tue 5/02

10:00am– Meet with Trish [our research nurse], Pediatric Clinic
10:30am– Photography, Room 1N230, 1st floor
11:00am– Family meeting, Pediatric clinic

On Tuesday afternoon, we’ve added something special to our schedule.  We were invited by our Congressman, Representative Joe Courtney, to meet with him in his Washington office!  As I posted last month, I had written to all my representatives in Washington about the proposed NIH budget cuts and about and Jane's history at NIH.  Congressman Courtney’s assistant wrote back that he would like to meet us to learn more about our experience.  So exciting!  We will bring a copy of the New England Journal of Medicine article that reported on the success of the NIH trial in which Jane is participating, and will also give him a t-shirt from the Children’s Tumor Foundation (“I Know a Fighter”).

After our meeting, we’ve planned to take a tour of the Capitol Building.  (Readers of this blog will remember that we visited the White House last spring during one of our visits to the area.)

NF Update
As I mentioned above, May is NF Awareness Month!  It's a time for members of the NF community to drive awareness, educate those around them, and raise support for research that will lead to effective treatments for neurofibromatosis.  We celebrate NF Awareness Month and World NF Awareness Day (May 17th) to put NF in the national (and international) limelight and to foster hope in the NF community.

Two particularly exciting components of NF Awareness Month are:
  • "Shine a Light on NF" a grassroots initiative that brings NF awareness into the community by lighting up buildings, bridges and monuments in blue and green.  In 2016, the NF community secured 146 landmarks across the country and around the world!  To see a list of participating locations, click here: http://www.ctf.org/get-involved/shine-a-light
  • Proclamations from governors, mayors, and city councils from across the country recognizing NF Awareness Month and World NF Awareness Day.  Last year, upon a request from Jane and me (with the help of NF Northeast), Governor Dannel Malloy declared May 2016 Neurofibromatosis Awareness Month in the State of Connecticut!

Every year during the month of May I post a fact about NF every day on social media.  I'll share the list next month here, too!

Wednesday, April 5, 2017

Running Update:
3.3 mi
5.0 mi
10.0 mi
2000.0 m

2000.0 m

7.6 mi
5.0 mi
18.1 mi

With the NYC Half done, I’ve started to focus on my next race, the Vermont City Marathon in Burlington, VT on May 28.  It will be a good way to finish out the month of May, which is NF Awareness Month!  But before we leave the NYC Half, here is the article the Children’s Tumor Foundation posted about our team:  http://www.ctf.org/news/nf-endurance-team-races-nyc-half-marathon-and-raises-over-85k

Jane Update:
Last month Jane took on the role of NF advocate and fund-raiser herself!

Jane’s elementary school has a Community Service Club that periodically holds small fund-raisers for various charitable organizations.  Typically, the group announces a special day—Pajama Day, Mismatched-Socks Day, or Crazy Hair Day—and request that students bring a $1 donation in order to participate.  This year they chose to support the Children’s Tumor Foundation because of Jane!

All year Jane has been involved with the group’s meetings, planning the project and providing first-hand experience on what life with NF is like.  In preparation for the day, Jane and the other club members created posters announcing the campaign.

Jane's NF art.  (She prefers mixed-media.)
In the days leading up to the event, Jane made several morning announcements over the school PA to remind people to participate.  Jane also chose to write her Persuasive Essay (part of the 4th grade language arts curriculum) about NF and the fund-raiser.  She read excerpts from the essay to the school on the day of the event.

This is a draft of Jane’s first announcement, made with the help of two of her friends.  It reads:
“Good Morning.  I’m _____, I’m _____, and I’m _____ from the Jeffrey Community Service Club.
“NF is an extremely rare disorder that affects 1 in every 1500.  People with NF have tumors that develop on your nervous system.  You can’t catch it.  It’s something you’re born with.
“Thank you!”

Second day announcement

The email reminder the night before

This was Jane’s final announcement was on Crazy Hair/Hat Day itself:

“Dear Staff and Fellow Jeffrey School Students,
“Thank you for participating today!  I’d like to share some information about NF.  Neurofibromatosis is an extremely rare disorder.  In fact, it affects 1 in every 1500 people worldwide.  NF is a branch of tumors or permanent bumps that can develop anywhere in your nervous system including your brain, spinal cord and nerves.
“There is no cure for NF. The only treatment is to control symptoms, have surgery to remove the tumors, radiation therapy and/or to take the medicines.
“Here’s how you can help!  If you donate to the Children’s Tumor Foundation, doctors can create medicines to cure the disease or buy things to know more about the disease and get started on a cure.  I participated in a study and because of a medicine, my tumor has gone down.”
“Thank you again for donating!”

We made sure to take lots of pictures the morning of the fund-raiser.

During that day, I got an email from Jane’s 4th grade teacher, who also runs the Community Service Club:
"We had a very successful fundraiser today! So far we have $357.60! You should see some of the great hair dos they wore, too! Jane shared parts of her speech this morning. I think it went well!"

The final tally was over $400 and is still being counted by the club :)  Thank you to Ms. Smith for her tremendous help and guidance to Jane and the Community Service Club for making this happen!

I would like to point out at this point that I had nothing to do with this project.  Once the suggestion was made for the fund-raiser, Jane took it and ran.  She attended the meetings herself, researched wrote the speeches and essay herself, and created to artwork herself.  I didn’t learn about her essay, and wasn’t even aware of the date of the fund-raiser, until a few days before it happened.  In fact, I tried to correct a few points in Jane’s essay (for example, it is generally thought that NF occurs in only 1 in 3000 individuals), but Jane would not change it.  She wanted to stand by the research she had done herself.

I realize now that she had been reading much more detail about NF than I had ever described to her.  One night, long before the fund-raiser, while looking in the mirror, Jane asked me how many cafĂ©-au-lait spots she had.  We’d never really discussed this aspect of NF, so I asked her how she learned about it.  “I read the criteria for NF while I was researching my Persuasive Essay.”

Jane’s teacher did share the full essay with me, and I will present it here.  (Warning to my mother:  it will make you cry.)

For what it's worth, I think Jane took some artistic license in the essay.  I would not say that she has ever been "bullied a lot".  That said, she has had her share of teasing and staring, and clearly it's on her mind.

After the event, when I read Jane’s essay with her, I asked her how it felt to discover some of the other complications of NF.  I was particularly concerned how she felt about the risk of cancer.  She shrugged and said, “I don’t know.”  I told her that she was past the age for some of the problems with NF (certain leg and eye tumors), and that the medicine she is taking is helping to prevent many of the other complications, maybe even cancer.

Korf, Bruce R., and Allan E. Rubenstein. Neurofibromatosis: A Handbook for Patients, Families, and Health Care Professionals. New York: Thieme Medical, 2005.

However, I could not be completely honest with her.  I lied and said I wasn’t worried about the risk of cancer.  I will protect her from this fear for now.

NF Update:
All this brings me to the recent proposed budget cuts to the National Institutes of Health and how critical it is that they not happen.
Jane gets all her NF care from the NIH. Without it, she would likely be deaf, possibly blind on one side, and would most certainly have had extensive surgery by now.
Just after the recent proposal to cut the National Institutes of Health (NIH) budget by $5.8 billion in 2018, the current administration is now seeking an immediate $1.2 billion cut to the NIH's budget for the remainder of 2017.  Here is an NBC article regarding the cuts.

This is Jane’s most recent tumor volume plot, which dramatically demonstrates the beneficial effect the NIH’s trial has had on Jane’s tumor.  I’ve actually calculated what Jane’s tumor size might be right now if it weren’t her current NIH trial.  Without effective treatment, the peak growth of Jane’s tumor had been between 5-10 mL per month.  The volume of Jane’s tumor is currently about 200 mL, or about half the volume of an average cantaloupe.  If Jane had never taken selumetinib, her tumor could be double or triple that volume, or more, by now.  It could have grown by the size of another cantaloupe.

I’ve called and written letters to all my representatives in Washington.  Feel free to use our story to encourage your own representatives to fight the cuts, too.  Here is an example of one of my letters:

Dear Senator,

My 9-year-old daughter has a rare genetic disease called neurofibromatosis (NF), a condition that causes tumors to grow on nerve tissue. At this time, there is no treatment or cure. As there are no experts in this condition in Connecticut, we travel several times a year to Bethesda, MD to the National Institutes of Health for her NF care. She has participated in clinical trials at NIH since she was 3 years old, in the hopes of controlling her tumors. We have had the most success with her most recent trial medication, selumetinib, which had reduced the size of her largest tumor by a third! Phase I of this trial has been so beneficial that it was written up in the New England Journal of Medicine in December (N Engl J Med 2016; 375:2550-2560. My daughter is patient #24). It has given hope to countless other children around the country who suffer from NF.

I am terrified that the Trump Administration’s proposed cuts to NIH funding, not only in the budget for 2018, but for the remainder of 2017 as well, will eliminate the treatment opportunities for my daughter, and other individuals with rare diseases, that the NIH provides. Please do all that is in your power to fight against these cuts to NIH.

Thank you.

This budget proposal is another reason we need to support the Children’s Tumor Foundation.  In addition to raising funds for NF research, the Children’s Tumor Foundation is our national voice and advocate.  Recently, Dr. Annette Bakker, president of CTF, met with members of Congress to press for continued government support for NF research.  The Children’s Tumor Foundation requested that Congress continue its longstanding support for NF research by providing $15 million through the CDMRP-Neurofibromatosis Research Program (NFRP) in FY 2018.  You can read more about it here:  http://www.ctf.org/news/advocacy-update-02-2017

Our next trip to NIH is on April 30th.  Please keep us in mind, and help us support CTF to #endNF!