April Events

Running Update:

Week of 3/20/23:           14.1 mi               2:17:12

Week of 3/27/23:           31.8 mi               5:23:19

Week of 4/3/23:              14.3 mi               2:22:07

Week of 4/10/23:           18.1 mi               3:13:41

Week of 4/17/23:           28.1 mi               4:44:58

Week of 4/24/23:           21.8 mi               3:34:24

ONE WEEK until the Cincinnati Flying Pig Marathon!  The last month of my training was a bit disrupted by travel (see below) but I think I’m ready for marathon number twenty!  You can still donate to our campaign for the Children’s Tumor Foundation.  Just click HERE or go to KRath4Jane.com!

Because of my upcoming marathon milestone, I was honored to be recognized as the Person of the Week in our local newspaper recently.  Take a look at this lovely article in the Madison Source.

Jane Update:

April brought Jane’s 16th birthday.  SIXTEENTH.  No, I can’t believe it either.

Opening birthday presents

Her favorite?  A ring with teeny tiny D&D dice inside!

April also brought a trip to Seoul, South Korea for Todd, Jane, and I.  Our oldest daughter, Helen, is studying there this semester.  What a treat to see her in her element!  We are so proud of her.  I took over 600 photos—here are a few of my favorite.

Helen greeted us at our hotel when we arrived

At Bukchon Hanok Village

A nine-course traditional Korean meal with friends

Wearing hanbok at Gyeongbokgung Palace!

Changdeokgung Palace

Water show at Banpo Bridge on the Han River

Jane and I took the cable car to Namsan Tower

Korean barbecue with colleagues of Todd's

Walking Helen back to her dorm at Yonsei University

In the National Museum of Korea

On the grounds of the National Museum of Korea

Noodles and dumplings in Myeongdong

I got to sound the drum at Deoksugung Palace

The gardens at Deoksugung

Trying her hand at the ring toss at Namsangol Hanok Village

Korean fried chicken with Helen!

NF Update:

Another NF event this morning (with even more photos!), this time for NF Northeast.  It was the NFNE Steps2Cure Walk, right in time for the start of NF Awareness Month in May.  The rain didn’t stop us!

My awesome team from NEMG North Haven!

Yale-New Haven Hospital even featured the walk on the hospital workstations

The walk was held at Dunkin Park in Hartford, home of the Yard Goats baseball team

We had use of the Jumbotron!

Cam's Team

Team Yale on the board!

Chew Chew, the Yard Birds' mascot

Dr Asher Marks, Director of Pediatric Neuro-Oncology at Yale, and Sharon Klein, the Executive Director of NF Northeast, with Chew Chew :)

Cara's Team

Neuro-fibroma-tosis.  Hard to say, harder to live with!

Chew Chew had many pint-sized fans

We heard some inspiring words from Sharon, Cam's mom, and Dr Marks

Cara's Team led the walk

The rain kept us from walking on the field, but we made a loop around the stadium instead

This is Callie Lanzel, a medical assistant in my department.  She enthusiastically spearheaded recruitment and fund-raising for Team Yale, even though she has no personal connection to NF.  What a joy to work with her!  We are so fortunate to have such allies as Callie.

The littlest participant of the day

The 2023 NYC Half Marathon

2023 NYC Half

3/19/23              13.1 miles          2:03:44

This year’s NYC Half was chilly (30F at both the start and the finish!) but I was faster than either of the halfs (halves?) I ran last year.  This was my 6th in-person NYC Half, but because of pandemic cancelations, I hadn’t run this race since 2019.  I had forgotten how special it is!  So many iconic New York City streets are closed to everyone but the runners—we run over the Manhattan Bridge with views of the Statue of Liberty, up FDR Drive looking out across the East River, across Manhattan on 42nd Street, through Times Square itself and into Central Park.  It is a unique and thrilling experience.

Here's an overview of the course:

At the Expo collecting my bib

Every year they the names of all the participants on one wall

Obligatory pre-race gear shot.  This year I had to add layers after this photo because of the cold!

Our CTF NF Endurance Team Captain, Lydia, was cheering for us and snapping photos at mile 10. 

42nd Street

And, in one of my stranger race experiences, Senate Majority Leader Chuck Schumer was standing in the middle of the finish line giving high-fives!  Not something I expected.

Finished!

It didn't warm up at all between the start and finish

Next up—the Cincinnati Flying Pig Marathon in May!

Thank you to everyone who has already donated to our campaign for the Children’s Tumor Foundation this year!

And if you haven’t yet, you can always donate here: www.KRath4Jane.com

Rare Disease Day

Running Update:

2/20/2023	7.6 mi	1:17:53
2/24/2023	7.6 mi	1:15:04
2/26/2023	14.1 mi	2:24:52
2/27/2023	5.0 mi	50:40
3/1/2023	9.2 mi	1:32:31

Just a little over two weeks to our first race of the year, the NYC Half Marathon!  This is the race I had to defer from last year because I had COVID.  It will be the seventh time I’m running this event.

NF Update:
Yesterday was Rare Disease Day (www.rarediseaseday.org)!  First established in in 2008 by the European Organisation of Rare Diseases, Rare Disease Day is the globally-coordinated movement to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families.  Rare Disease Day is observed every year on 28 February (or 29 in leap years)—the rarest day of the year.
 
This year I was asked to participate in a Rare Disease Day online symposium at the University of Buffalo School of Medicine!  I was among a dozen or so speakers giving short presentations, each on a different rare disease.  The audience was mostly medical students, but members of the public were invited to join as well.   The meeting itself wasn't recorded, for privacy reasons, because some of the presenters interviewed patients in real time; but I was able to record my talk so that it could be shared.  I hope you enjoy it!

NF Northeast

Running Update:

Week of 1/23    25.7 mi               4:22:18
Week of 1/30    23.9 mi               3:50:46
Week of 2/6      28.2 mi               4:42:51
Week of 2/13    27.9 mi               4:39:19

One month until our first race of 2023—the New York City Half Marathon!

You can always support us here: www.KRath4Jane.com

 

NF Update:

This year I’ve taken on another role in the effort end NF—I’ve joined the Board of Directors for Neurofibromatosis Northeast!

Neurofibromatosis Northeast (www.nfnortheast.org) is a regional organization whose purpose is to advocate, create awareness, promote research, and support patients and families living with NF.  Its purview is New England, New York, New Jersey, and Pennsylvania. Its eloquent vision:  A world where the burden of neurofibromatosis does not exist; and its equally eloquent mission statement:  To bring hope to those affected by neurofibromatosis and allied disorders.  One of the board members describes it as the local Mom and Pop counterpart to the national Children’s Tumor Foundation.  These groups work in concert towards the common goal of improving the lives of people living with NF.

I first became acquainted with NF Northeast in 2014 while running the BostonMarathon for the Children’s Tumor Foundation, and went on to run that same race again in 2016, this time for NFNE. I hadn’t worked with NFNE again until I happened to connect with a NFNE board member who works right here at Yale:  Dr Frank Buono, an Associate Research Scientist in the Department of Psychiatry.  One of Dr Buono’s area of study is pain in individuals with NF, and he himself was diagnosed with neurofibromatosis type 2 (NF2) at the age of nine.  It was Dr Buono who nominated me for the board.

I attended my first meeting of the Board of Directors of NF Northeast in Boston this week.  NFNE had just given a grant to a Harvard PhD student who is working in a NF research lab at Massachusetts General Hospital.  As a result, the board was invited to tour the lab, run by Dr Jim Walker (walkerlab.mgh.harvard.edu), which we did right before our meeting.

Some quick background before I describe Dr Walker’s lab:

Neurofibromatosis type 1 (NF1) is a condition caused by a mutation in the gene which makes the protein neurofibromin.  Neurofibromin is a regulatory protein found in all cells in the body, but it is particularly concentrated in Schwann cells—the cells that cover and support our nerves.  The malfunction of neurofibromin in people with NF1 leads to the variety of tumors and medical complications seen in the condition.

When trying to test new therapies or drugs for NF, it’s hard to start out testing directly on humans (it could be dangerous, it would take a long time and require a lot of people as test subjects).  Fruit flies, on the other hand, are plentiful and reproduce quickly.  Dr Walker’s lab has grown fruit flies that have various NF1 mutations, and uses them to study the biology of NF1, to conduct genetic experiments, and to identify potential therapeutic targets in the gene.

For further investigation, Dr Walker’s group can then transfer those same genetics to a culture of human Schwann cells.  This helps the team to study and develop therapeutics, such as gene editing, that could potentially be used in people with NF1.

Can you believe the senior postdoctoral fellow in Dr Walker’s lab happens to be a woman I’ve known for years?  Dr Stephanie Bouley and I have been part of the same virtual charity running club since 2016, but we had never met in person!

Dr Bouley describing the Walker Lab in the Tissue Culture room

Overview

Like-minded people work here :)

The neurofibromin molecule.  Over 3300 mutations have been identified in the gene for neurofibromin—any one of those mutations leads to a person having NF1.

Dr Walker shows us fruit flies with NF1 in the Fly Room!

Fruit flies under the microscope

Fruit flies with NF are not visibly different—NF doesn’t cause tumors in the flies the way it does in humans—but it causes changes in their biology and their behavior.

In this experiment, fruit flies are taught to move towards a certain odor and away from another.  The fruit flies with NF1 mutations have more trouble with this task, just as people with NF1 can sometimes have learning difficulties.

In this experiment, fruit flies’ sleep-wake cycle is monitored.  Fruit flies with NF1 mutations have more disrupted sleep, just like some people with NF1.

Francisco Fernandez is the PhD student who received the grant from NFNE.  He told us that his motivation to enter medicine and research was to find a cure for his brother, who has NF1.  (You can read more about this remarkable individual here, an article written before he came to Harvard.)

This whole experience brought me exactly the thing that NF Northeast strives to provide to those affected by NF—it brought me HOPE!  I am so grateful to researchers like Dr Walker and his team for their work in helping us understand, and one day cure, neurofibromatosis.

First post of 2023

Jane and Family Update:

Happy 2023 everyone!  I hope you all had restful and healthy holidays.  Our family didn’t make it to Canada this holiday due to canceled flights from the battery of snowstorms in the Northeast and Midwest.  It was only the third time in over 25 years that we didn’t celebrate New Year’s Eve at the Lake of the Woods in Ontario!  (Once before was for my work schedule in 2005, the other for the COVID pandemic in 2020.)  We were very disappointed to miss seeing everyone at Echo Bay, but we did enjoy quiet time at home together.

Running Update:

Week of Jan 1:   18.1 miles          2:57:20

Week of Jan 8:   21.4 miles          3:29:42

Week of Jan 15:  22.1 miles         3:30:46

Week of Jan 22:  21.8 miles         3:28:00

We’ve got our 2023 races are set!  This is our 15th year fund raising for the Children’s Tumor Foundation, and I’m scheduled to run my 20th and 21st marathon.  How did that happen?

Our 2023 events:

·       New York City Half Marathon—Sunday, March 19

·       Cincinnati Flying Pig Marathon—Sunday, May 7

·       New Haven Road Race Half Marathon—Monday, September 4

·       Berlin Marathon—Sunday, September 24

·       Philadelphia Half Marathon—Saturday, November 18

I have some new races this year—I figure I have a limited number of marathons left in me, so I’d better branch out and sign up for the ones that I’ve always wanted to run. 

The FlyingPig Marathon in May is supposed to be one of the most fun marathons in the country.  (Yes, you can put “fun” and “marathon” in the same sentence.)  Think pig-themed everything—from pig mascots to running corrals renamed “pig pens”—and lots of bacon-related humor.  And 2023 is the 25th anniversary of its first running, so it promises to be even more over the top.

I first learned about the Flying Pig Marathon from my friend Janet.  Janet and I met ten years ago in 2013 when we were both running the Boston Marathon for the Children’s Tumor Foundation.  As you’ll recall, that was the year of the Boston Marathon Bombing.  We kept in close touch after that traumatic event, and we were both invited to return to Boston the next year and met up again then.  (You can read about our reunion here.)  Janet lives in northern Kentucky so has been encouraging me to come run the Flying Pig Marathon, which briefly crosses over the Ohio River into Kentucky, for years.  We’ll finally get to race together again!

Why is it called the “Flying Pig” Marathon?  Apparently, in the 1800s, hogs were a major source of revenue for Cincinnati, so much so that it was known as “Porkopolis”.  In 1988, for its bicentennial celebration, the city renovated its waterfront park with a design by artist Andrew Leicester.  To honor the city’s riverboat heritage, the entrance gate included four smokestacks, each with a winged pig on top, supposedly “reflecting the spirits of the pigs who gave their lives so the city could grow”, according to the artist.  The people of Cincinnati, initially with mixed opinions on the statues, have since embraced the Flying Pigs as a symbol of their city.

What better way to celebrate my 20th marathon?

The Berlin Marathon in September will be my first marathon abroad.  Berlin is one of the 6 “World Marathon Majors”, along with Boston, New York, Chicago, London, and Tokyo.  Elite runners, like Eliud Kipchoge, regularly break world records there.  I won’t be breaking any records, but I’ll be running the same race on the same course as those greats.

With my racing always comes fund-raising for the Children’s Tumor Foundation!  If you’d like to get a jump start on your donation for the year, visit our site here!

KRath4Jane.com

 

NF Update:

This year also marks 10 years of this blog!  It started as a condition for running the Boston Marathon in 2013 for CTF.  I never imagined I’d still be writing and recording ten years later.  Of course, as I’ve said before, with NF our work is Never Finished, so I’ll be advocating and fund-raising to end NF for as long as I am able <3

Follow-up to NIH visit

NF Update:

This week I had a follow-up conversation with Dr Andrea Gross, one of our team leaders at NIH.

Jane’s right-sided plexiform is stable—always a good result to get!  And a happy way to enter the holiday season.

A friend and mother of another child taking selumetinib for a plexiform neurofibroma recently posted online, “Friends often ask, why can’t they just surgically remove the tumor? Here is the latest radiology report to explain what would be at stake…”  She then posted the radiologist’s description of her son’s plexiform, which is a benign but locally invasive type of tumor.

I will follow suit and present part of Jane’s report:

“Again noted is a large plexiform neurofibroma involving the right side of the face including right masticator, infratemporal fossa and parotid spaces with extension into retromandibular space and involving the floor of mouth.”

Translation: it involves pretty much her entire mandibular nerve (a branch of the largest cranial nerve); her external carotid artery, facial nerve, and parotid gland (in the “parotid space’); plus other important nerves and blood vessels entering and leaving her skull (in the ‘infratemporal fossa’). 

Not something you want to cut into.  Thus, we carry on with selumetinib!

Gray’s Anatomy, Plate 784

As I mentioned in my last post, the full-body MRI also showed an irregularity in one of the bones of Jane’s right shoulder.  Our team thinks it is a “benign fibrous cortical defect” or “non-ossifying fibroma”, both of which are associated with NF, and neither of which would require any treatment.  However, our team would like us to get an x-ray of Jane’s shoulder at home sometime in the next few weeks/months just to fully evaluate.  As you all have witnessed, there is always something to chase with NF.

 

Running Update:

This year marks 10 years of running an average of 1000 miles a year for NF!

My yearly running totals:

2013:  1010.4 mi
2014:  1010.2 mi

2015:  1010.2 mi
2016:  1056.9 mi
2017:  1084.5 mi
2018:  966 mi
2019:  1002.2 mi
2020:  950.1 mi
2021:  1140.1 mi
2022:  1056.7 mi*

*I’d like to add another run or two before we head to Canada at the end of the year, but I’ve been down for several days with some sort of bug (not COVID) so I’m not sure if I’ll be able to.

I’m also almost at 10 years of blogging about NF, but I’ll talk about that more next year!

 

Jane and Family Update:

Helen and Alec got home from college this week!  It’s wonderful to be all together again <3

We’ll head to Canada after Christmas and will celebrate the New Year there, as usual.

I hope everyone has a healthy and restful holiday! 

December 2022 NIH visit

December 2022 NIH Update:

We visit the NIH for check-ups every 24 weeks (every sixth 4-week cycle).  Because the interval is a little less than 6 months, visits happen a month earlier from one year to the next.  Add to that some changes in our visit schedule due to surgeries and breaks from the study medication due to side effects, we haven’t ended up at NIH around the holidays since 2015.  Things were a lot different then!  Jane was a lot shorter, I was a lot less gray, and even though the NIH campus has always been strict about infection control and security, there were a lot fewer restrictions on getting out and about at NIH in 2015.

Jane helping to decorate the tree in the Ophthalmology Department in 2015

Same tree, same skirt, same department, 2022!

One event we were particularly looking forward to was the annual NIH Gingerbread House competition, in which different departments at the clinical center go to town building elaborate gingerbread houses, castles, robots, games, and holiday scenes.  All are put on display in the main atrium to be enjoyed, and ultimately judged, by the public.  Jane and I were disappointed to learn that the competition has not been held since the pandemic started.

COVID has particularly impacted the experience at the Children’s Inn, where they have to be very careful to protect some really sick kids who are especially vulnerable to the virus.  Despite requiring each resident to have two negative COVID tests (one within 72 hours before our trip and another once we arrive at the Inn) there still are no groups meals or big group activities like the Inn has had in the past. (Though there were astronauts—see below.)  I miss getting to meet the other Inn families from around the world and talking with them about their rare and complex medical conditions.  It made us feel not so alone.

Our schedule

Our first day at the Clinical Center started at 7am with a 90 minute full body MRI and dedicated face MRI.  We both fell asleep at points—Jane in the MRI scanner and me in a non-metallic chair at her side.  I guess we were tired!  The day also included blood work, EKG, physical exams, an eye exam, and a meeting with our team.  We headed back to our room after 7-1/2 hours at the Clinical Center.  When we got to the Inn, we discovered some astronauts from the International Space Station (Expedition 66) were giving a presentation!  Jane wasn’t up for joining it—her last appointment of the day had been with ophthalmology, so her eyes were dilated and she couldn’t see anything—but they did save some swag for her :)

Autographed photos!

A model spacecraft to build!

My favorite :)

The second day at the Clinical Center also started at 7am with an MRI, this time a brain MRI which required IV contrast.  (No sleeping this time--I had just downed a large coffee!)  After the hour-long scan, we went directly to her echocardiogram and managed to be out of the Clinical Center by 10am.  We had a seamless trip to the airport, and after quick flight we arrived home before dinner.

Todd and Henri had been home alone during our trip.  That hasn’t ever happened before!  The last time Jane and I were at NIH, Alec hadn’t yet left for college.  Henri did not understand :(  Todd sent us several pictures of Henri watching the front door, waiting for us to come home.

Wednesday night vigil

Thursday morning vigil

We got a quick report from our team before we left NIH on Friday.  So far we know that Jane’s blood work is mostly normal, and her eyes and heart are normal.  We don’t have a formal reading on the MRIs yet, but a quick glance at the scans by our team seems to show:

1- No major change in her facial plexiform neurofibroma.

2- No recurrence of the abdominal tumor that was removed last March.

3- No sign of the new psoas muscle tumor that had first been spotted in June of this year! Yay!

4- A new bony abnormality in the right humerus in her shoulder.  This particular finding is apparently not unusual in NF and probably has no consequences.

Hopefully we’ll have final results before the holiday and know the plan for the next six months.  I’ll update when we do.