Tuesday, May 24, 2016

NIH Visit Recap:
Just arrived home from Jane’s restaging visit to NIH, before starting cycle 29 of her experimental therapy.  Overall, a good visit.  I won’t keep you in suspense—Jane’s tumor appears “stable”, though with some caveats…

We arrived at the Children’s Inn at NIH on Sunday afternoon.  We were fortunate to be assigned one of the renovated rooms on the ground floor, so had large windows looking out at the garden, and even our own small patio.  We saw lots of wildlife!  A bunny, several deer, and even a mother robin on her nest under our eaves!

The Family Dinner provided by the Inn that night was perfect for Jane:  a pasta bar!  Jane is a notoriously picky eater away from home (actually, at home, too—not sure if it is bad parenting or if her medication affects her sense of taste more than we thought), so much so that I pack a couple of servings of microwave mac and cheese in my bag to serve her in case she doesn’t like the available options at the Inn.  That night we got to pick from various types of pasta, then could pick from different sauces and toppings (or plain butter, in Jane's case).  Girl Scout cookies for dessert :)  I enjoyed getting reacquainted with two moms—one from Spain and one from Venezuela—who I’d met on previous visits to NIH. 

Back in our room after dinner we read a few chapters from Harry Potter before bed.   We’ve been reading the third book (The Prisoner of Azkaban) together, but we forgot to bring our copy with us.  Luckily, we found a copy in the library at the Children’s Inn <3

Monday morning at breakfast I saw a young boy accompanied by a woman wearing a shirt reading “I know a fighter”.  I recognized the shirt as one from a campaign by the Children’s Tumor Foundation!  (I have one myself!)

It turns out the boy has NF, too, and had just started the same experimental medication as Jane four months ago.  They were returning to NIH from California for their first restaging since enrolling in the trial.  It is always good to meet other families that are going through an experience similar to ours.

Jane and I spent the entire day at the hospital, and truly didn’t have a moment’s rest from 8am until after 5pm.  Thankfully, her blood-work, physical exam, eye exam, EKG, and echocardiogram were all normal.  The NIH appointment I like the best is Photography.  I get to snap along with my phone while the photographer documents the appearance of Jane’s tumor over time.  Two of my favorites:


Jane managed another non-sedated MRI scan, though I she did fidget quite a bit this time during the exam, despite our best efforts.  The results:

So, the official word is "stable".  The graph shows a slight increase in size (10mL) but the radiologist felt that this was due to motion.  Our care team is still letting us wait 6 months until we have to return/restage.  We discussed two things:

1) Giving Jane a small dose of Ativan or similar to relax her but not put her to sleep for the scan.  

2) Whether to stay with the same dose of AZD6244 or increase it.  I favored staying with the same dose since Jane is tolerating it so well and since the team thought the tumor was "stable".  Our main doctor, pediatric neuro-oncologist Dr. Brigitte Widemann, added that, since Jane has already had more than a 30% reduction, she wasn't sure how much more benefit Jane would get.  (The best response they've seen is 50% reduction, but most patients have had 30% or less, even on higher doses.)  Also, the next higher dose option would be twice Jane’s current dose (not a trivial increase).
The potential argument in favor of increasing the dose is they're not sure if Jane would have the same beneficial response to a higher dose if the tumor truly starts growing again (concern for "resistance").

Anyway, still good news, I think.  I would have liked "smaller", but I'll take it...


The Family Dinner that night at the Inn had a Disney/Movies theme, complete with a “photo booth” with costumes and accessories.
The dinner settings

Make-Your-Own Sundaes!

Jane was not shy at the photo booth...

We had spaghetti and meatballs for dinner, then make-your-own sundaes for dessert.  No wonder Jane considers these "vacations"!

Helen update:
Now it is Helen’s turn to be featured :)

Helen’s soccer team played in a local invitational tournament this weekend.  I’ve attended almost every game she’s played this season (for the last four seasons, for that matter) but I had to miss the semi-finals and finals of this tournament since Jane and I were in Bethesda.  Wouldn’t you know they were the most exciting games of the season!  First, during the semi-final game, Helen’s team was down 1-0 with a couple of minutes to go and Helen scored the tying goal.  This is particularly special since Helen plays defense!  Spectators called it “unbelievable”—she scored from far back field, up and over the head of the goalie :)

Then Helen’s team went on to win the final against an undefeated team!  It couldn’t have happened to a nicer group of girls.  Everyone on the team has worked hard and played so well together this year.

The Madison eighth-graders
Helen with her award :)

Sunday, May 15, 2016

Running Update:
5.0 mi
5.0 mi
7.6 mi
5.0 mi
3.1 mi
9.1 mi
5.0 mi
3.2 mi
13.1 mi
I cut back on mileage quite a bit since the marathon in order to let my injured knee recover a bit, but I’m ramping up again.  We had perfect weather for a nice, long run here in CT today—sunny, breezy, mid-50s—so I tried to make the most of it.

NF Update:
As we are already half-way through May—NF Awareness Month—I thought I would share with you the NF facts I have been posting daily on Facebook.

1.       May is NF Awareness Month.
2.       1 in 3000 people is affected by Neurofibromatosis type 1, 1 in 25,000 is affected by NF type 2, and about 1 in 40,000 is affected by schwannomatosis.
3.       Neurofibromatosis encompasses a set of distinct genetic disorders that causes tumors to grow along various types of nerves.
4.       NF can also affect the development of non-nervous tissues such as bones and skin. Neurofibromatosis causes tumors to grow anywhere on or in the body.
5.       The severity and physical signs of NF1 can vary widely from patient to patient. People who have NF1 may have very few neurofibromas (tumors) or they may have thousands of them throughout their body.
6.       NF1 and NF2 are called autosomal dominant genetic disorders. Half of all cases are inherited from a parent who has NF1 or NF2; half of all cases are not inherited but the result of a new or spontaneous mutation.
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.       Although most cases of NF1 are mild to moderate, NF1 can lead to disfigurement; blindness; skeletal abnormalities; dermal, brain, and spinal tumors; loss of limbs; malignancies; and learning disabilities.
9.       NF1 also has a connection to developmental problems, especially learning disabilities, which are five times more common in the NF1 population than in the general population.
10.   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.
11.   Some people with NF suffer from a bony defect called tibial dysplasia, in which the leg bones are curved.
12.   Another complication of NF is pseudarthrosis, in which a bone breaks, typically a long bone such as the femur, and does not fully heal, causing a "false joint".
13.   People with NF are at increased risk of high blood pressure and renal artery stenosis.
14.   NF can also affect the cardiovascular system causing congenital heart defects. The most common heart defects seen in NF are those affecting the heart valves, particularly the pulmonary valve.
15.   Café-au-lait spots, the most common sign of NF, 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.
16.   There are three forms of neurofibromatosis:  NF1, NF2, and schwannomatosis, each cause tumors to grow on nerve endings in or on the body.
17.   May 17 is NF1 Awareness Day.
18.   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. 
19.   About 10% of people with NF will develop scoliosis, or a lateral curvature of the spine. In most cases it is mild, but more severe cases may require surgery.
20.   Approximately 15% of patients with NF will develop an optic glioma with the peak age of onset between ages 3-4 years old. An optic glioma is a tumor of the optic nerve in the brain which controls the vision
21.   Many people with NF1 suffer from frequent headaches, particularly migraine headaches.
22.   May 22 is NF2 Awareness Day.
23.   The distinguishing feature of NF2 is tumors that grow on the eighth cranial nerve in both ears, commonly causing deafness and severe balance problems.
24.   NF2 brings on increased risk of other types of nervous system tumors as well.
25.   NF2 can also cause severe vision problems, including cataracts, retinal abnormalities and orbital tumors.
26.   NF is not the "Elephant Man's Disease," although it was at one time believed to be. Scientists now believe that Joseph Merrick, the so-called "Elephant Man," had Proteus Syndrome, an entirely different disorder.
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 7-12% 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 can cause itching of the skin.
30.   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.
31.   The Neurofibromatoses are genetically-determined disorders which affect more than 2 million people worldwide; this makes NF more prevalent than cystic fibrosis, Duchenne muscular dystrophy, and Huntington's Disease combined.

Jane Update:
Jane and I return to NIH next week for a re-staging visit—a visit where her tumor is re-evaluated and re-categorized as to whether it is still responding, stable, or growing.  We arrive on a Sunday afternoon.  Here is our itinerary for Monday:

8:00am—Physical exam, Pediatric clinic, 1st Floor
8:30am—Labs, Pediatric clinic, 1st Floor
8:45am—Unsedated MRI (Face, sinus, ENT), Radiology 1st floor
10:00am—Eye clinic, Outpatient clinic, 10th Floor
          Lunch Break
12:00am—EKG, Radiology, 1st Floor (or anytime during free time)
12:30pm—Photography, Room 1N230, 1st floor
1:00pm—Echo, 5NE, 5th Floor
2:00pm—Check in, Pediatric clinic
2:30pm—Family meeting, Pediatric clinic

It might be a tight schedule, but we’ve done it so many times now that we nearly have it down pat.  As always, we’re hoping for a good report from the MRI.

Some recent good news:  Jane’s study medication, AZD6244, or selumetinib, was given “orphan” status in the US.  Orphan status is awarded to medicines promising significant benefit in treating rare, life-threatening diseases and the designation provides companies with special development and market exclusivity incentives.  If selumetinib has orphan drug status, that means its manufacturer, Astra-Zeneca, has more incentive to keep producing it.  That in turn would benefit Jane and other children with NF with Jane’s type of tumor (plexiform neurofibroma).  Here is a link to the article in the NY Times.

Alec Update:

Here's more evidence that I do have other children besides Jane!  Alec had his 6th grade orchestra concert last week, and it was wonderful.  They played quite a range of music, from a baroque gavotte to the classical Ode to Joy, from the theme from Jurassic Park by John Williams to the pop song Uptown Funk!  (The cellos got to spin their instruments at one point during the latter.)  Alec plays the cello, but he also filled in for the string bass during one piece!  I was so proud.

Alec on the string bass

This was the first time Alec's orchestra teacher required that the boys wear ties to a concert, and I couldn't help but document how handsome Alec looked dressed up!

Then Jane got in on the photo shoot <3

Wednesday, May 4, 2016

Finally finished our travelogue/photo album from Paris.
It is not for the faint of heart--almost 200 photos!
Posting here for myself and for posterity.

Click HERE to view the album.