Summer Update:

The summer got away from me, and I took a longer break from the blog than I meant to!  We’ve had a lovely few months and are now gearing up for a new school year.  We spent the summer enjoying our usual three Cs—Cape Cod, Camp, and Canada. 

After school let out in June, we spent a week in Cape Cod, biking and swimming (and avoiding sharks!)

Dramatic skies in Eastham

Bike ride to the ocean side

Helen enjoying the sea breeze

Surfing the big waves at the National Seashore

For several weeks the kids returned to their favorite camp, Deer Lake, where Jane was again a camper and where her older sister and brother were a counselor and counselor-in-training, respectively.

Helen leading her group (which included Jane) to the campfire

Jane and her group performing at the campfire

The CIT's performance got the biggest applause!

Then we traveled to the Lake of the Woods in northern Ontario for a nice long visit with Todd’s family and our Canadian friends where we enjoyed more swimming, hiking, paddling, and exploring.

Helen in the Lake

Alec playing toss with Grandpa and Grandma

Alec, Kristy, and Jane cliff jumping!

Fun with noodles

In Kenora

Boating to Kenora and posing by Huskie the Muskie!

Tree pose on a SUP

Todd's still got it!

Our good friends, Megan and Linda, on the Tunnel Island trail

Helen joins the cliff jumping

Like father, like son

With our neighbors on the dock

Three generations of Robert Constable, 2019

Jane Update:

The only wrinkle in our summer has been a battle with the side effects of Jane’s trial medication, selumetinib.  As I have mentioned here before, for some reason selumetinib seems to predispose users to nail bed infections (among a number of other skin concerns), and Jane has been plagued by stubbornly affected toenails since the beginning of May!  We’ve consulted endlessly with our team at NIH, we’ve seen our local pediatric dermatologist, we’ve done several courses of antibiotics, multiple rounds of topical medications, countless soaks, and finally had to take Jane off the selumetinib temporarily.  Unfortunately, she has been off the drug for almost a month and a half, which of course makes me nervous.  After four months we do seem to be finally conquering the infections.  We see the pediatric dermatologist again this week and hope to get the green light to restart the trial medication.

However, because of the long break from the selumetinib, we had to postpone our return trip to NIH.  We were scheduled to visit NIH last week for a check-up, MRI, and other testing before starting Cycle 71 of the trial.  (NB Each “cycle” is 4 weeks, so 71 cycles is 284 weeks or almost 5-1/2 years on this trial!)  Unfortunately, because Jane has been off her medication since the middle of Cycle 70, we were forced to postpone the visit by a month, until she truly is starting Cycle 71.

Can I tell you how hard it is to rearrange a medical trip with a child on only a few days’ notice?  NIH could not have been more helpful, and the changes to actual travel plans were handled by them, but the delay meant rearranging my work schedule and childcare plans, and means Jane missing school again (which we were trying to avoid with a summer trip).  When I first heard that our trip was being postponed, I was distraught and overwhelmed by the logistics of it all!  But we’ve since rallied and made the necessary changes and now we hope to visit at the end of September.

Of course, I am anxious about Jane having been off selumetinib for a month and a half.  This is the longest period of time Jane has been off the medication since we started 5 years ago.  At one point I asked one of our care team if she had concerns about Jane being off it for so long, and if we would see any significant growth in her tumor as a result.  While she meant to be reassuring, her answer threw me off: “Well, it is what it is.  We don’t have any choice but to hold it for now.  There are some children who have to be off the study medication for months due to surgery, and keep in mind that when she’s older if she is pregnant, she’ll have to be off the medication for 9 months.”  I was taken aback because it had always been my understanding that plexiform neurofibromas stop growing at some point—I hadn’t envisioned Jane taking this medication for the rest of her life.  But our team member said that they still really don’t know everything about the natural history of plexiforms.  At one point it was thought that plexiform neurofibromas can stabilize during the teenage years, but this is unpredictable.

Meanwhile, Jane is her usual easy-going self, and is looking forward to starting grade 7 and being back at school with her friends.

Running Update:

Summer 2019 training summary

Five days until my first race of the fall, the New Haven Road Race Half Marathon!  (You can donate to our race here! www.KRath4Jane.com)

I started the summer swimming more than running on account of the excessive heat and humidity in the northeast, but I got in a lot of running miles while we were in Canada.  It’s perfect running weather there--sunny but cool and dry--plus I’m rewarded with dip in the Lake at the end of every run.  Back at home now I’m just getting into my long runs on weekends in the lead up to the Marine Corps Marathon in October.

NF Update:

This summer I’ve added something new to my resume.  I was invited to join the Medical Advisory Board for the Childhood Tumour Trust! 

The Childhood Tumour Trust is an organization based in the UK that is similar the Children’s Tumor foundation here in the US.  I will continue to race and fund-raise for the Children’s Tumor Foundation, but for a while I have wanted to use both my medical expertise and personal knowledge of NF to further support individuals and families affected by NF, and I will be able to do that in this new position with the Childhood Tumour Trust.

~~~

Finally, I’d like to dedicate this blog post to my dear Aunt Anne, who passed away this week.  She was the rock of our extended family and lived a full life filled with love.  She doted on Jane and was always a steadfast supporter in our quest to end NF <3

Our beautiful Aunt Anne

Running Update:

4/30/2019	Run		3.2 mi	27:42
5/1/2019	Run		8.1 mi	1:18:11
5/3/2019	Run		5.0 mi	48:05
5/5/2019	Run		22.3 mi	3:53:10
5/7/2019	Swim		1500.0 yd
5/8/2019	Run		5.0 mi	48:42
5/10/2019	Swim		1500.0 yd
5/11/2019	Run		13.1 mi	2:09:50
5/15/2019	Run		5.0 mi	47:56
5/17/2019	Run		3.2 mi	29:49
5/19/2019	Run		7.6 mi	1:16:04
5/22/2019	Run		5.0 mi	48:44
5/26/2019	Run		26.2 mi	4:54:02
6/1/2019	Swim		1900.0 yd
6/2/2019	Run		5.0 mi	50:53

The Vermont City Marathon 5/26/19

Another race done for the Children’s Tumor Foundation: the Vermont City Marathon in Burlington, VT was last weekend and was marathon number 15 for me.  You’d think by now that I’d have this thing down pat, but you’d be wrong!  The last few marathons I’ve done I’ve hit the wall around mile 17 and haven’t been able to bounce back.  I’ve finished them all with a combination of walking and running the last third of the race, but I’d like to get past this!  I finished my 20+ mile training runs faster than I ran the actual marathon!  I keep thinking maybe I’m getting to old for this, but then I think about all the marathoners I know who are older than me and realize that I can’t use that argument :)

Sunday dawned cool and overcast and promised to be a good weather for running.  The race was supposed to start at 7am sharp, but with 15 minutes to go, as thousands of runners lined up in the starting area in Battery Park, we heard an announcement that the park was being evacuated due to severe weather!  A rogue thunderstorm blew in and delayed the race for about 45 minutes.  I’d never experienced a race delay like that, and apparently neither had the Vermont City Marathon in all of its 31-year history.  Runners took shelter in several parking structures and nearby hotels until we were given the all-clear.  Talk about getting psyched out!

After arriving at Battery Park for the start

Storm moving in from over Lake Champlain!

Evacuating!

Aaaand back to the start again.

Still waiting for the start, 45 minutes later

Finally at the starting line (right in the middle of the picture!)

Once the race was finally underway, we had sunny skies, maybe a little warmer than would have been ideal, but the course was beautiful as always, looping around picturesque Burlington, and there were plenty of encouraging spectators, despite the stormy start.

Running back down Church Street around mile 9
(The VCM gives participants free race photos!)

Pine and Main, just before mile 10

Up the long hill of Battery Street at mile 15

High five from Alec!

As I mentioned above, I had to alternate walking and running after mile 17, and I was walking around mile 22 when a stranger walking next to me said, “OK, let’s start running again, and we’ll run to the next stop sign.”  We did, and for the next two miles we ran and walked together, encouraging each other to run a little bit farther each time.  It turns out he is the Virginia State Representative to the Road Runners Club of America and is trying to run a marathon in every state!  What a difference it made to run as a team.  It got me through to mile 24, and from there it was all downhill to the finish.  (Thank you, Grattan!)

Mile 24!

Passing the kids at the finish chute

Finish line!

With the kids

Jane and me

Best support team ever!

Thanks to all of you, we’re raised over $7000 so far this year for the Children’s Tumor Foundation!  I’d like to give a special thank you to Jane’s friend and classmate, Will.  Will took it upon himself to set up a lemonade stand last weekend and donated the proceeds to CTF in honor of Jane!  Such a thoughtful and wonderful friend!

Will raised over $400 for CTF!!

NF Update:

As you probably all know by now, May was NF Awareness Month.  For those of you who missed my social media posts, here is the list of facts I shared to help people understand more about this condition.

1 Neurofibromatosis is a set of genetic disorders that causes tumors to grow on nerves throughout the body.

2 Neurofibromatosis can also affect the development of non-nervous tissues such as bones and skin.

3 There are three forms of neurofibromatosis:  NF1, NF2, and schwannomatosis.     Each cause tumors to grow on nerve endings in or on the body.

4 About 1 in 3000 people are affected by neurofibromatosis type 1, 1 in 25,000 are affected by NF type 2,    and about 1 in 40,000 are affected by schwannomatosis.

5 About half of all cases of NF are inherited from a parent who has NF; the other half of cases are    not inherited but the result of a new or spontaneous mutation.

6 NF1 and NF2 are autosomal dominant genetic disorders.

7 Each child of an affected parent has a 50% chance of inheriting the gene and developing NF.    The type of NF inherited by the child is always the same as that of the affected parent, although the severity    of the manifestations may differ from person to person within a family.

8 The severity and physical signs of NF1 can vary widely from person to person. People who have NF1 may    have very few neurofibromas (tumors) or they may have thousands of them throughout their body.

9 Although most cases (60%) of NF1 are mild to moderate, NF1 can lead to disfigurement; blindness;    skeletal abnormalities; skin, brain, and spinal tumors; loss of limbs; malignancies; and learning disabilities.

10 NF1 has a connection to developmental problems, especially learning disabilities, which are five times     more common in the NF1 population than in the general population.

11 There are two types of neurofibromas in NF1: dermal neurofibromas and plexiform neurofibromas.

12 Dermal neurofibromas can be cutaneous (on the skin surface) or subcutaneous (under the skin)     and are lumps that are very typical to NF1. Most are not a medical issue, but can cause pain and itching.

13 Plexiform neurofibromas are less common, occurring in about 25% of NF patients. They can grow large,     and can cause problems such as pressure on nerves and organs.

14 NF1 can result in disfigurement in a number of ways. Skin neurofibromas may develop on the face or on     exposed areas of the arms or legs. The larger and deeper plexiform neurofibromas may grow around the     eye or eyelid, or affect growth of one side of the face. Scoliosis, or curvature of the spine, can affect appearance     when it is severe. Rarely, an overgrowth of skin or bone causes enlargement of an arm or leg.

15 Some people with NF1 suffer from a bony defect called tibial dysplasia, in which the leg bones are curved.

16 May 17 is World NF Awareness Day.  The NF gene is found on chromosome 17.

17 Many people with NF1 suffer from frequent headaches, particularly migraine headaches.

18 NF1 can affect the cardiovascular system causing congenital heart defects.  People with NF1 are at     increased risk of high blood pressure.

19 Café-au-lait spots, the most common sign of NF1, are the flat, pigmented spots on the skin, which are called     by the French term for coffee (café) with milk (lait) because of their light tan color. In darker-skinned people,     café-au-lait spots appear darker in color than surrounding skin. People with NF almost always have six or more     café-au-lait spots.

20 5% of NF1 patients have a bone-related issue called sphenoid wing dysplasia, in which the skull and eye orbit     bony areas erode away, causing possible craniofacial abnormalities, loss of the eye, and enlargement of the     eye orbit cavity.

21 About 10% of people with NF1 will develop scoliosis, or a lateral curvature of the spine. In most cases it is mild,     but more severe cases may require surgery.

22 Approximately 15% of patients with NF1 will develop an optic glioma with the peak age of onset between     age 3-4 years old. An optic glioma is a tumor of the optic nerve in the brain which controls the vision

23 Most individuals with NF1 will start puberty during the expected age range, but some may experience either     delayed or early puberty. This is frequently, but not exclusively, associated with optic pathway tumors.

24 Children and adults with NF1 often have a large head circumference, which usually does not indicate any     significant medical problem.

25 Many people with NF1 are shorter than average, but it does not cause any health concerns.

26 The distinguishing feature of NF2 is tumors that grow on the eighth cranial nerve in both ears, commonly     causing deafness and severe balance problems.

27 The tumors in NF are usually noncancerous (benign), but in some cases these tumors become cancerous     (malignant) tumors.

28 NF related malignancy is estimated to occur in 10% of affected individuals. People with NF are at increased risk     for MPNST (malignant peripheral nerve sheath tumor), brain tumors, and leukemia, as well as several other     forms of cancer.

29 NF is worldwide in distribution, affects both sexes equally and has no particular racial, geographic or     ethnic distribution. Therefore, NF can appear in any family.

30 Neurofibromatosis affects more than 2 million people worldwide; this makes NF more prevalent than cystic fibrosis,     Duchenne muscular dystrophy, and Huntington's Disease combined.

If you prefer this information in video form, please watch this thorough yet succinct and understandable video about NF from the Childhood Tumour Trust!

 

As we say, Awareness Month may be over, but the fight against NF is year-round.  If you haven’t had a chance, please donate to the Children’s Tumor Foundation here: 

www. KRath4Jane.com

Jane Update:

I am sorry to say that Jane has been dogged by another toenail infection and more rashes this month.  Both are known side effects of her trial medication, selumetinib.  We had to stop selumetinib for a week so she could take antibiotics for her toe, and we started yet another topical skin regimen for this new rash.  She tolerates it all like a trooper and doesn’t let it hold her back for one second, which is good because of all her end-of-schoolyear activities!  This week Jane had her spring band concert (in which she plays the flute) and one of her last few soccer games of the season.

Concert-ready

Perfect throw in sequence :)