Saturday, December 23, 2023

December news

Running Update:
2023 to date:
Swim     59.1 mi               39:08:07
Run       1120.5 mi*         182:41:16
 
*although the last third of the year most of my “running” has been on the elliptical.  Hoping my knee will be in better shape in 2024.

More important than miles, as of this writing we have raised
$23,623

Every dollar gets us one step closer to a world without NF.  Thank you to all our wonderful donors <3


NF Update:
We finally got our official MRI reports from our recent NIH visit earlier this month:


As you can see from the attached volume plot, Jane’s plexiform tumor remains very stable!  Since Jane’s previous MRI in May, Jane did have a neurofibroma removed from underneath her tongue, but our team feels that that had only a negligible effect on the volume of the tumor overall.
 
Our team also reviewed the whole-body MRI, which we did to “screen” for any changes to the adrenal glands, given Jane’s germline ALK mutation and possible increased risk of neuroblastoma.  Happily, they found nothing new.  Going forward they would like to perform a whole-body MRI once a year (so next in fall 2024) to watch for both neuroblastomas and neurofibromas.
 
Happy news on which to end the year!
 

Jane and Family Update:
Helen and Alec got home for their winter break earlier this week, so we have everyone back under one roof for the holidays.  It’s good to have everyone home!  We’re planning our usual New Year’s celebration in Canada next week—we had to miss New Year’s last year because of canceled flights.  We’re looking forward to ringing in 2024 from Echo Bay, the Lake of the Woods.

Happy Holidays, everyone!



Wednesday, November 22, 2023

The Philadelphia Marathon Weekend

Well!  The Philadelphia Marathon weekend was a very full one, and even included a few surprises.

The weekend started out uneventfully.  On Friday I drove down to Philadelphia and picked up my college roommate, Dara, in New York on the way.  We planned to meet up with another of our roommates, Emily, who lives in Philadelphia, for a mini-reunion amidst the races.

Road trip! with Dara at a rest stop in Jersey

30+ years of friendship

At the Expo

I couldn't get enough of this balloon display


The runners!


You can’t visit Philly without seeing Ben Franklin

I met up with Lydia Vanderloo, who runs the NF Endurance Team
at the Children's Tumor Foundation!
She was running the full marathon on Sunday.

Obligatory pre-race gear pic

The half went well considering I did nine-tenths of my training on an elliptical.  It was overcast and cool-ish (windy at times!), so a good temperature.  My knee cooperated for the most part, which was also good!  My goal was to finish under 2:15 and I ran 2:10 so I’m content.  And Philly itself turned out—maybe it was the nice weather or just that Philadelphians rock, but there were mobs of cheering spectators for the event.  Along the route I spotted two new favorite race signs: “HERE FEMORAL SUPPORT” and “Run like you’re young!”





After the half, I hung around the race zone because Emily was doing the 8K.  She had the race on her bucket list, though hadn’t raced for a while.  She trained for it but wasn't feeling super confident, so I volunteered to do it with her (“femoral support” LOL).  She was thrilled with her finish, and because I did both races I'll get an extra "Patriot Challenge" medal.  Wins all around!  (You all know I'm sucker for the bling.)

Trying to stay warm between the half and the 8K

On the course


Finish line!


Done

Finisher selfie with City Hall
One bummer—they ran out of medals!  The organizers sent us an email later in the day: “We want to apologize to those who crossed our finish line today but did not receive their well-deserved medal. This year, we witnessed phenomenal weather, with record-breaking registration and an unprecedented number of day-of-race participants. Your enthusiasm and dedication have truly set a new benchmark for the Philadelphia Marathon Weekend.”  They promised to send them in the mail.

I got my half medal but will get the 8K and Patriot Challenge medal later.  The bells actually rings!

The full marathon was held the next day.  I knew two people running it—Lydia from CTF (who you met above) and Kate McCrann.

Dr Kate McCrann is a gastroenterologist in Maine.  For years we happened to both be members of the same large online women physicians group.  One day back in 2020 I posted something about a challenging day at work, and Kate made a supportive comment “as a former patient”—it turns out while covering for a colleague many years before I had delivered her son!  In fact, I was pregnant with Jane at the time.  We started exchanging messages, and as we talked we discovered more and more connections.

She was an undergraduate at Yale a few years after me, in the same residential college (Morse!)

Her sister lives in Madison about a mile away from us, and her nephew is in Jane’s class.

The most significant connection, however, was that her daughter has a rare genetic disease—a mutation of the USP7 gene that causes a neurodevelopmental disorder called Hao-Fountain Syndrome.  Kate not only fund-raises and advocates for a cure for Hao-Fountain; she and her husband started an entire foundation for the purpose: the Foundation for Hao-Fountain Syndrome.  (www.usp7.org)

And one of the ways Kate raises money for the Foundation for Hao-Fountain Syndrome?  She runs marathons!  Can you even?

When I learned that Kate would be in Philly running the marathon, I had hoped we’d finally be able to meet in person again.  Unfortunately, the weekend took an unexpected turn.

While I was in Philadelphia, our son Alec randomly collapsed at school and was admitted to a local hospital!  He's OK now.  His EKG showed an arrhythmia, which will most likely be managed conservatively, but because he is only 19 and previously healthy, they wanted to do a zillion tests before they let him go home.  So instead of resting quietly with my feet up and ice on my knee after my races, I drove to St Luke's Hospital in Bethlehem, PA to be with Alec in the Cardiac Care Unit!  It was fortunate that I was already in Pennsylvania.  Needless to say it was not the weekend either of us had planned on, but we are thankful that Alec is fine and we are back home now. 

After an action-filled weekend in eastern Pennsylvania, I am looking forward to a quiet holiday weekend at home with our family.  We hope all of you have a Happy and Healthy Thanksgiving.

Wednesday, November 8, 2023

NIH visit 11/5-11/7/23

As you all know, Jane has to return to the National Institutes of Health at least twice a year for check-ups and testing for her neurofibromatosis and for monitoring of her anti-tumor drug, selumetinib.  Technically, we visit every 6 “cycles” of the drug, each cycle being 4 weeks long.  This visit marked cycle #119.


We hadn’t been to Photography in a while.  When Jane was littler, our team had taken photos regularly to monitor the outward appearance of Jane’s plexiform neurofibroma as she herself grew, but now that she’s fully grown they don’t take photos as often.  We learned our team is following another young woman with a plexiform neurofibroma in the exact same location as Jane’s, so they want to have up-to-date photos to compare the two—they might be able to counsel the young woman as to what to expect with her own tumor based on Jane’s experience.

In the Photography studio


This trip included Jane’s 36th MRI.  Really, her 36th MRI session, since each time she gets in the scanner she has images taken of multiple different body parts.  This time it was a scan of her facial plexiform (a “face, sinus, and ENT” MRI) and another full-body MRI. 

An aside: you don’t need MR images to see that the tumor has affected Jane’s mouth.  Here is the template from her new retainer.



At our last visit in May 2023, we learned that a reanalysis of Jane’s 2020 tumor revealed a mutation in the ALK gene, in addition to the mutation in her NF gene. The ALK (or “anaplastic lymphoma kinase”) gene is a gene that makes a protein that is involved in cell growth.  Mutated forms of the ALK gene and protein have been found in some types of cancer, including neuroblastoma, non-small cell lung cancer, and anaplastic large cell lymphoma.  We hoped the ALK gene mutation in Jane was limited to the cells of the tumor that had been removed, but subsequent genetic testing did reveal that it is also present in Jane’s normal cells (a so-called “germline mutation”). My reaction at the time was something like, “Really?  Another tumor-causing mutation??  WTF??” only with more expletives, but I’ve calmed down a bit since then.  Jane’s particular ALK mutation is not well known, but it does not seem to be among the most pathologic types that have been studied.  Nevertheless, our team is recommending annual full-body MRIs to catch any new tumor as early as possible.  The most research being done on ALK gene mutations is at the Children’s Hospital of Philadelphia.  At some point, we will probably need to meet with the specialists there, but right now we’re not looking to add any more medical travel to our schedule.

An exciting piece of news is that our team has been trialing discontinuing selumetinib in their patients when they turn 18.  Left alone, most plexiform neurofibromas typically do stop growing at some point in adulthood, though it’s different for each person.  Our team is testing to see if there is an age after which MEK inhibitors like selumetinib are no longer needed.  They’ve had a handful of patients turn 18 and stop the medication, and the tumors in several of those patients stabilized after a small period of regrowth.  We would be thrilled if Jane could eventually stop taking the medication!  It would lift a big burden of physical side effects, not to mention the fear of unknown, long-term effects.

MEK inhibitors like selumetinib are not mild medications.  Several MEK inhibitors are used to treat advanced or metastatic melanoma, and another MEK inhibitor, trametinib, is now used to treat someovarian cancers.  Much of Jane’s visits to NIH are taken up by monitoring for potential side effects of selumetinib:  echocardiograms and EKGs to watch for signs of heart failure; eye exams to watch for retinal and other eye damage; blood work to watch for muscle, liver, and kidney damage and infection.  We try not to think too hard about it.


Jane with Dr Brigitte Widemann (l) and Anne Dufek, APRN (r).
They take such good care of us!


After 7 hours at the Clinical Center, we crashed back at our room.  The Children’s Inn at NIH takes such good care of us!  They provided us dinner and even Maple Chocolate Chip cupcakes for dessert.


The next day we were back at the Clinical Center early for Jane’s eye exam.  This check-up involves multiple different steps, including OCT (a test that uses light rays to create a cross-sectional picture of the retina), vision tests, dilation, and exam by the ophthalmologist.  We’re typically in the Eye Clinic for several hours.  However, because we were one of the first appointments of the day this time around, we were done more quickly than usual.  The downside to an early appointment is having dilated eyes during the brightest part of the day!  Jane spent the rest of the day in sunglasses, squinting :)

Masks are still required in all areas of the Children’s Inn and Clinical Center for COVID prevention, since the patients there are such a vulnerable population.  Our Ophthalmologist at NIH told us with some pride that the first doctor to raise the alarm about a new respiratory virus circulating in Wuhan, China, Dr Li Wenliang, was an ophthalmologist.  She commented “2020 was supposed to be our year! 20/20!’  But it turned out that ophthalmology was important for a very different reason that year.

Before we returned home we learned that Jane’s blood work, EKG, echocardiogram, and eye exam were all stable.  We won’t have the MRI results until later in the week.  We are hoping for stability there, too.

If hearing Jane’s story inspires you, please consider donating to the Children’s Tumor Foundation so that we can find more ways to support and treat people living with NF!  You can donate here:

www.KRath4Jane.com

Monday, October 23, 2023

Braces off (!) and more October updates

Running Update:

Less than a month until the Philadelphia Half Marathon.  But the good news is that last week I ran on the road for the first time in two months!

Since August 11, because of my knee injury, I’ve only exercising by elliptical and swimming.  But on October 11 I ran five miles on the road!  It was also two weeks to the day after I had come down with COVID again (before my updated vaccine had a chance to kick in.)  My lungs weren’t quite 100%, but I figured that would keep me from overdoing it with my knee :)  I was slow as heck and wheezy and every joint hurt, but I was SO STUPIDLY HAPPY to be running again!!  Afterwards, I even went on the Philadelphia Marathon website and briefly thought, “Maybe I could actually do the full marathon instead of the half…”

I know some people think it’s crazy, but I truly do love running <3

So now I need you all to do your part:  Please donate to our Children’s Tumor Foundation campaign!  Help us to #endNF!

www.KRath4Jane.com

 

NF Update:

People living with NF often suffer not only from the physical effects of their neurofibromas, but also from the effect of the tumors on their appearance.  This is particularly hard if someone, like Jane, has neurofibromas on their face.  People with facial differences can experience harassment, stigma and prejudice because of how they look.  Other people with facial differences can include those with clefts, craniofacial conditions, and burn survivors.

Enter Face Equality International.

From their website:

The mission of Face Equality International (FEI) is to mobilise the many groups and organisations, big and small, national and international, which support and represent people with facial differences and disfigurements and thereby to create the critical mass and solidarity needed to gain global attention for the campaign for face equality.

 “Together we can create a world where anyone with a disfigurement is free to be unapologetically themselves. In order to celebrate what makes us ‘different’, first we must recognise that it is society that must change, not us. It is the limiting perceptions placed on faces and bodies that do not conform to the ‘norm’ that we must change.”

Phyllida Swift, CEO of FEI

It was around this time last year that I shared Face Equality International’s excellent post about Halloween, reminding people that facial disfigurement is not evil or scary (I’ve also written about this), and so should not be used in costumes as such.

This year I thought I’d share FEI’s new petition calling upon the entertainment industry to include accurate, authentic representation of people with disfigurements and visible differences, to prevent further marginalization of the community. Take a look—it is well written and spot onwww.change.org/p/tell-hollywood-visible-difference-doesn-t-equal-evil

 

Jane Update:

This week Jane got her braces off for good!  It’s been three long years—time to celebrate by chewing gum and eating popcorn again!

While it’s a relief for Jane to get the braces off from a comfort standpoint, it also makes a HUGE difference for our upcoming return to NIH and any future MRIs.  Every time Jane would have an MRI she’d have to have her braces wire and any metal brackets removed a few days before the scan and then replaced afterward (even though we opted for ceramic brackets for this very reason, the anchoring brackets on her molars had to be metal).  It was very inconvenient, and prolonged the amount of time she had to wear the braces.  But that’s in the past now!

Though we’re glad to be done with braces, we do love our orthodontist.  After one of Jane’s recent appointments he came to me in the waiting room to tell me:

Jane just said something that changed my life.  She asked, “Why do you ask people to ‘bite down’?  Shouldn’t you ask them to ‘bite up’?”  She’s changed my whole world view.  I’ll never say “bite down” again.

Typical Jane—changing people’s whole world view :)


Before

After!



Sunday, September 10, 2023

The 2023 Dave Parcells Madison Sprint Triathlon

Yesterday was the 2023 Dave Parcells Madison Sprint Triathlon hosted by a group in our hometown, the Madison Jaycees.  The Madison Jaycees is a civic organization that raises money to support local charities and families in our community.  They host several events throughout the year, including a ThanksgivingTurkey Trot (!) and an annual sprint triathlon.  This year was the 37th annual Madison Triathlon, named for a former director, Dave Parcells.  It is a very family-friendly and novice-friendly event, with individuals, teams, first-timers and para-athletes all encouraged to participate.  There’s even a Kids "Try" category designed for 11-16 year old children to participate with an adult. The race includes a .5 mile swim, a 13 mile bike and a 3 mile run. 

About a week ago, my friend Bridget posted that her triathlon relay team had lost its swimmer (to gout!!) and was looking for someone to replace him.  I was already scheduled to work the day of the race (at HAVEN, a student-run clinic at Yale), but since the race started at 7am and I didn’t have to be at work until 9am, I volunteered!

I had done the Madison Sprint Triathlon once before, in 2021 and while I survived it, it was definitely not my best athletic performance.  My hope was to beat my swim time.  I brought along a change of clothes for work and planned to shower at the beach and then drive straight to work after my leg of the race.  Our team name: Well, We Will Tri!

R to L: Sue (our cyclist), me, and Bridget (our runner)

Remember how I said how serene I found it to swim laps at the Lake of the Woods in Canada?  Well,

Solo lake swimming = Serene

Racing in the ocean with 250 other swimmers = Not Serene

It wasn’t my aforementioned fear of sea creatures that made me nervous.  Rather, it was the swimming equivalent of being trampled!  But we got it done!



I parked across a field from the beach so I'd be able to get to work after my leg.
It was foggy at 6am!

The Madison Surf Club was the heart of the event

My mom even showed up to cheer!

The swim course!!  Half a mile around the orange buoys.


They make you write your age on your calf :/

Out of the water!

After the race, Sue with her husband and Bridget with her 15 year old son,
who finished FIRST in his age group in his first ever triathlon!  Amazing!  

Post-swim shower before work :)

Made it to clinic in plenty of time.  Here is my student team!

Our relay team came in second place in the all-female team category!  …OK, out of two teams :)

Thanks to Bridget and her family for including me in the fun!

~ ~ ~

I'm still hoping to run the Philadelphia Half Marathon in November.  If you haven't yet donated to our fall campaign for the Children's Tumor Foundation, please do!

www.KRath4Jane.com


Monday, September 4, 2023

Labor Day Weekend

Running Update:

August 2023
Run                     66.9 mi               10:46:10
Swim                   10.7 mi               2:52:00

This weekend was to be the start of our fall racing season and fund-raising season for the Children’s Tumor Foundation.  The deeply disappointing news is, because of a knee injury, I won’t be running for the next month or so.  That means no New Haven Half Marathon today—the first New Haven Road Race I’ve missed in 14 years.  The first New Haven Road Race I’ve missed since Jane was two.

Even more upsetting—no Berlin Marathon this year. 

My right knee has been giving me trouble ever since I started training for Berlin this summer (for reasons I can't understand.  It was fine for the Flying Pig Marathon in May.)  After a couple of trips to an orthopedic office, physical therapy, and a cortisone shot didn’t help, I got an MRI and learned that, in addition to the expected age-related arthritis, I have a bad meniscus that isn’t amenable to surgical repair.  If I want to continue running in the long term, the orthopedist’s advice was to cut back on my running mileage and to cross train as much as possible.  In his words, “Maybe instead of running two marathons a year, you just run one.  Or just run half marathons or 10Ks.”  Not words that any endurance runner wants to hear!  With the orthopedist’s permission, I initially kept training for Berlin.  However, while we were in Canada visiting Todd’s family in August, I was in enough pain during my long runs that I realized my knee would never hold up for a marathon. 

All summer I'd been thinking I could just push through, given that I'd already got so much invested in this event—I'd already booked time off of work, we'd already bought plane tickets, I'd been fundraising, etc—but I finally made the hard decision to cancel my next few races to give my knee a rest.

I know this is a minor issue compared with the problems some people have (like those with NF!) but I confess I am devastated.  I said as much to our NF Endurance captain, Lydia Vanderloo, and she responded:

“I think you actually captured it in your comment.  Although with endurance fundraising we typically position our fundraising around a specific goal—your 20th marathon at Flying Pig, a big celebration in Berlin, etc—sometimes things happen that are beyond our control (injuries, pandemics, etc).  But that does not mitigate the need to fundraise to end NF.  And the challenges you're facing with your knee are in some ways a parallel to the challenges faced by those living with NF, like Jane.  Who knew her latest challenge would be to remove a tumor from her tongue?  But she managed it (with her family's support, I'm sure!)  You are managing your own challenge right now, uncertain as to when you'll be able to run another race, but with the hopeful target of the Philly Half looming in the distance.  I hope this makes sense.  Your donors are generous because you ask, they care about you and Jane, and what you're doing is inspiring.  None of that has changed with this injury or your pulling out of Berlin.”

This is why Lydia is our team captain! <3

While we were still in Canada, I took advantage of being on the Lake of the Woods and threw myself into swimming.  Swimming at the lake is very serene; peaceful even when the water is choppy.  You’re gliding though cool black waters, surrounded by tall poplars with fluttering green leaves and big blue skies.  From the cabin, the best landmark for swimming is an island in the bay—one lap to its shore and back is about 500 yards.  I’ve swum to the island for years, but this summer I enjoyed it more than I can remember.  I’m finally confident in my spotting, and have managed my irrational fear of encountering a sharp-toothed lake creature.  I enjoyed it so much that when we got back to Connecticut, I searched the web for nearby lakes that allow open water lap swimming.  (Yes, living close to Long Island Sound, I could swim in the ocean.  But remember, I’ve only just managed my irrational fear of sharp-toothed lake creatures—not my less-irrational fear of sharp-toothed ocean creatures.)

A view of the island from our dock in Echo Bay

Just when I was starting to lament that, with the summer ending, I wouldn’t be doing much more open water swimming this year, a friend posted that her sprint triathlon relay team had lost its swimmer and was looking for someone to replace him.  I volunteered!  (“When one door closes…”)

So in the end, I won’t be running a race for a few months, but I will be swimming a race!  (Thank you, Bridget!)  Watch for us in the Madison Sprint Triathlon on Saturday, September 9!


NF Update:

That means we still need your donations to the Children’s Tumor Foundation for our fall campaign!

As you know, this summer Jane underwent another surgery due to neurofibromatosis to remove a tumor from her mouth.  I am happy to say she has recovered fully!  While we have come a long way with NF treatments—like the selumetinib that Jane continues to take, the first drug ever approved for treatment of NF—you can see we still have far to go.  Please help us to #endNF!  Donate here:

 

Jane Update:

Jane and her siblings are all back to school in this past week.  Wishing everyone a very successful school year!

Alec was first back to school, starting his second year at Lafayette College in Easton, PA


Alec showed us one of his favorite places to run, a park right on the Delaware River

Henri liked Alec's raised bed




Jane was next back to school, starting her junior year at Daniel Hand High School.
(She's not happy to be waking before sunrise again!)


Helen was the last to start back to school.  She was welcomed to her dorm with this nametag :)


Starting her SENIOR year at Mount Holyoke College in South Hadley, MA