Running Update:

6/3/2015	5.0 mi	46:12
6/5/2015	5.0 mi	45:00
6/7/2015	7.6 mi	1:11:46

Just maintenance right now.  Training for the Hartford Marathon doesn’t start for another couple of weeks.

Jane Update:

Jane and I return to NIH tomorrow for the next four days for her restaging.  This means lots of testing to make sure she is not having any adverse effects from the study medication, and another MRI to check to status of her tumor.  (I went back and counted recently—this will be Jane’s seventeenth MRI.)

Here is our schedule for the visit:

Wed 6/10	Arrive at NIH
Thu 6/11	9am – Photography, Room 1N230, 2nd Floor 9:30am – EKG, Radiology, 1st Floor 9:45am – Vital Signs (3 Hts & 3 Wts), Pediatric Clinic, 1st Floor 10am – ECHO, 5NE, 5th Floor 11am – Physical Exam, Pediatric Clinic, 1st Floor 12:30pm – Pre-Anesthesia, Room 2C523, 2nd Floor Lunch 2:00pm – Eye Clinic, OP Clinic, 10th Floor
Fri 6/12	7:30am – Labs, 1NW Day Hospital, 1st Floor 8:45am – Sedated MRI, Radiology, 1st Floor 1:30pm – Family Meeting, 1NW Day Hospital
Sat 6/13	Home

Looong days for an 8 year old!  I always hope I’ve packed just the right items in my backpack to keep Jane entertained through these visits.

Speaking of schedules…  Every family’s schedule is hectic this time of year, what with end-of-year projects, recitals, field trips, exams, and final games.  We’re adding in Todd’s busiest few travel weeks for work and our trip to NIH—I’m maxed out!  I decided to post below the email I sent out a few days ago to my Mom, my husband, Todd, and our awesome sitter, just so someday I can reflect back on the craziness of it all (perhaps fondly, perhaps with relief!)

Day 1

[sitter], FYI.  H has tutoring at home as usual.

J does NOT have piano (lessons over for the summer).  Also different this week:  T and A have a soccer game in Meriden (instead of practice), though they will probably still leave home at about the same time,  I anticipate being home about the usual time.

Day 2

J and I leave for Washington about 10am.

Grandma:  will you pick A up from school as usual and then bring him to piano lessons?

Todd:  will you plan on being home in reasonable time so as to relieve Grandma?

H, A, and T:  the cleaners come on Thursday, so remember to put away anything that you don’t want moved.

Day 3

[sitter]: usual pick-ups and then violin lesson for H.  Would you also stay long enough to bring H to soccer practice?

H:  YOU MUST REMEMBER TO BRING YOUR VIOLIN AND MUSIC HOME TODAY.  THIS IS THE LAST LESSON BEFORE YOUR RECITAL.

Todd:  Will you please remind H to bring her violin and music home today.

Grandma: would you bring H home from soccer practice?

Day 4

Todd:  A has a field trip with his class for the school day.  He needs to wear comfortable clothes and sneakers, and he needs to wear BLUE.  He needs to bring water and a bagged lunch without glass bottles.  He should put on sunscreen and bug spray before school (and bring a hat if necessary).

[sitter]:  usual pick-ups for Friday, no afterschool activities.  Maybe froyo?

Grandma:  T will bring the kids over after dinner for sleepover.

Day 5 (weekend)

Todd leaves at 5am

[sitter]:  Can you pick the kids up at my Mom’s this morning?

It will be a long day for you!  J’s and my flight gets into Hartford, which means we won’t be back in Madison until a little over an hour later.  Any activity you think might be fun for you and H and A that morning?  (Or just chill at home…)  On the schedule:  H has a soccer game, so will need to be there about a half-hour early.  J and I will then meet you and A at home in time for us to go to A’s piano recital.  Could you then collect H from her game and bring her home?  We’ll all reconvene at our house after the recital.  Whew!

Day 6 (weekend)

[sitter]:  If you don’t think you will be too worn out from the day before, would you mind coming over for a couple of hours Sunday morning so I could run?

Grandma:  Would you please watch H and J while I bring A to his soccer game in Cheshire?  I would leave with him about an hour before the game and possibly drop the girls off with you at that time.

Day 7

Grandma: will you come over to the house to get J ready for school and on the bus?

Day 8

[sitter]:  regular after school pick-ups.  The only activity is A has soccer practice.  If you can get him there I will ask his coach to bring him home.

Day 9

Grandma:  THIS IS A NEW REQUEST.  I have had to add a surgery in for this morning.  Could you come over to the house to get J ready for school and on the bus this day as well?

FYI:  H’s recital is this evening.

Day 10

Grandma: will you come over to the house to get J ready for school and on the bus?  And once again, could you bring H home from soccer practice?

[sitter]:  like the previous weeks, can you stay long enough to bring H to soccer practice?

Day 11

[sitter]:  I don’t remember if we discussed this—this is the kids’ last day of school and they have an early dismissal.  My last patient is at 11:30am, but I may not make it out in time to pick up A and J.  Are you available early that day?

Day 12 (weekend)

[sitter]:  I also don’t recall if we discussed this weekend!  It turns out Todd doesn’t arrive home until Saturday afternoon, but both H and A are in a soccer tournament in Cheshire this weekend!  I don’t yet have the schedule—I am hoping that they will have games at similar times so that J and I could just go and hang out at the Cheshire soccer fields and watch all the games.  If the schedule ends up with games at wildly different times, would you be available to either watch J and/or give rides to H or A?  Let me know.

OMG.  I have been feeling a bit nauseated just wondering whether we can pull it off…

On a lighter note, Jane had her end-of-year piano recital this weekend :)

Before the performance.

NF Update:

Exciting news regarding Jane’s study medication.  This week at the NF Conference, the largest gathering of the world’s NF experts in neurofibromatosis, Jane’s doctor, Dr. Brigitte Widemann, presented the results of the Phase I trial of AZD6244.  As readers of this blog recall, Jane was one of only 24 children enrolled in the study to test this new, experimental treatment for NF.  For reference, the tumor on Jane’s jaw and neck is called a plexiform neurofibroma, an inoperable type in her case.

Some key information from the text:

“Plexiform neurofibromas exhibit the most rapid growth in young children, and therefore early intervention in children with growing PNs may result in the greatest clinical benefit. Consistent volume decreases of large PNs has not been reported in the past, and today’s announcement indicates a promising future for the development of effective medical therapies for NF1 related PNs.”

"16 of 24 patients treated with the MEK inhibitor selumetinib (AZD6244 hydrogen sulfate) saw a tumor volume decrease of ≥ 20%".

(See the full text of the article here.)

It was very frightening to be one of only 24 patients trying this new drug, but we have been so lucky to be one of the responders!!  I desperately hope it continues to work well!

PS  This is your donation dollars at work!  Thank you thank you thank you!

PPS  You can always donate here www.krath4jane.com :)

Finally, one more light-hearted note:  Todd brought home a souvenir from his MR meeting last week—an actual toy MRI!  What a perfect gift for Jane!

Running Update:

5/27/2015	5.0 mi	44:50
5/29/2015	3.2 mi	29:41
5/31/2015	13.1 mi	2:00:12

Today was the inaugural OutRUN38 Branford Half Marathon!  Congratulations to the OutRUN38 organization for a great day.  What a fabulous turn out of volunteers, supporters, and spectators for a very special cause, the support of adults living with cystic fibrosis.

It was hot, humid, and hilly race!  I confess I started out too fast and by mile 9 I was starting to fade.  I was just debating whether to stop and walk when I heard a familiar voice call my name.  It was my friend, Melanie, from Massachusetts!   Melanie had recently moved back to Connecticut, but I had no idea she was running the Branford Half today.  Despite knowing each other for years, and despite a shared love of running, we’d never managed to race together.  That is, until today!   Having Melanie by my side gave me renewed energy, and we ran the rest of the race nearly step for step, and crossed the finish line together.  What a wonderful surprise!

Thanks to Melanie for urging me on.  Thanks also to my aunt for making a special trip from Boston to help watch the kids while I was off racing; to my mom for coming to collect me after the event and helping me with the kids while Todd is away; and as always, to my running partner, Neil, and his ever-supportive wife, Marcia.

Jane Update: 

Jane and I head back to NIH for four days on June 10^th for a big visit:  re-staging MRI, echocardiogram, EKG, eye exam, blood work, and physicals.  The AZD6244 seems to be doing its job, but as regular readers of this blog know, I always get apprehensive before these visits.  Past experience has made me cautious about being too hopeful!  Trying to think positive thoughts.

NF Update: 

NF Awareness Month is coming to a close.  Thank you for your support!  I hope I was able to educate everyone a bit more about neurofibromatosis.

Up for June—the start of our 2015 fundraising campaign for the Children’s Tumor Foundation!  I’ve got a new (streamlined) link to our fundraising page: www.krath4jane.com   I am hoping to be able to use this same link year after year, so you’ll never have to wonder where you can donate :)

Running Update:

4/26/2015	9.1 mi	1:26:04
4/29/2015	7.0 mi	1:04:59
5/1/2015	5.0 mi	45:08
5/3/2015	10.7 mi	1:43:44
5/5/2015	5.0 mi	46:28
5/6/2015	3.3 mi	28:07
5/8/2015	5.0 mi	46:11
5/10/2015	12.5 mi	2:01:44
5/12/2015	5.0 mi	46:00
5/17/2015	6.4 mi	1:01:25
5/22/2015	5.0 mi	46:22
5/24/2015	9.0 mi	1:27:06

Phew!  Haven’t updated in a while, I guess.  Tapering now before the OutRUN Half Marathon next weekend, though I confess I haven’t strictly adhered to my training plan the past few weeks.  It should be a fun race, nevertheless.

Jane Update:

Had wonderful news from Jane’s ear doctor earlier this month.  We hadn't seen him in about a year--since we had started AZD6244. The doctor said he could notice an improvement in her ears: Last year he could only see a sliver of Jane's ear drum on the right; this year he said the canal is normal caliber!! He also could no longer see the tumor bulge on her palate!! Hooray!  We return to NIH for Jane’s next MRI scan in about two weeks—hoping for just as good news then.

Speaking of MRIs, Jane made a Lego mock-up of the radiology suite of a hospital for her Career Day at school (she's a doctor).  I like the brain image on the MRI screen and the abdominal ultrasound probe!  A sign Jane knows a little too much about MRIs:  The morning when she brought the diorama into school she looked at it ruefully and said, "I shouldn't have put glasses on the guy in the MRI. They're magnetic."

NF Update:

May is NF Awareness month!  To that end, I am reproducing my daily NF facts into one table for easy reference :)

·         Neurofibromatosis encompasses a set of distinct genetic disorders that causes tumors to grow along various types of nerves.

·         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.

·         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.

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

·         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.

·         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.

·         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.

·         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.

·         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.

·         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.

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

·         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".

·         People with NF are at increased risk of high blood pressure and renal artery stenosis.

·         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.

·         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.

·         May 17 is NF1 Awareness Day.

·         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.

·         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.

·         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

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

·         May 22 is NF2 Awareness Day.

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

·         NF2 brings on increased risk of other types of nervous system tumors as well.

·         NF2 can also cause severe vision problems, including cataracts, retinal abnormalities and orbital tumors.

·         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.

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

·         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.

·         NF can cause persistent itching of the skin.

·         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.

·         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.

Running and NF Update:

4/15/2015	7.0 mi	1:08:14
4/17/2015	5.0 mi	46:14
4/19/2015	10.0 mi	1:35:20
4/22/2015	7.2 mi	1:07:57
4/24/2015	6.0 mi	54:55

After the NYC Half Marathon I was casting about for another local spring race, since training for the Hartford Marathon wouldn’t start until June.  I couldn’t find an appropriate one:  the Middletown Half was too soon, Todd would be out of town for the Cheshire Half, and the Mystic Half was already sold out. Then I heard about a new half marathon starting this year in Branford on May 31^st.  It is being sponsored by OutRUN38 (www.outrun38.org), an organization that seeks to heighten awareness of cystic fibrosis and provide support to people living with this disease.  (The average life expectancy for someone with cystic fibrosis is currently 37; thus the name of the organization reflects the goal to surpass those odds.)

The race is perfect with respect to timing (10 weeks after New York) and location (only two towns away), but I hesitated on the registration page…

A small voice in my head asked:   Could I run a race to support a cause other than NF?

A louder voice said:  Of course I could!  What was wrong with me?

I’ve donated to many organizations’ walks, runs, and fund-raising efforts, including a number of programs for children with other medical issues.  Participating in a race to benefit cystic fibrosis wouldn’t take away from my support of neurofibromatosis charities.  Cystic fibrosis (CF) is a disease in which the body produces very thick mucus secretions.  These thick secretions impair the function of the lungs and the digestive tract, and can lead to severe lung infections, malnutrition, and early death. Like NF, it is caused by a genetic mutation, is hereditary, chronic, and has no cure—only patchy treatments. You would think that I’d be extra sympathetic to the CF cause, having firsthand knowledge of the struggles of a complex childhood illness.  So what was my problem?

After a lot of reflection, I think I have the answer.

It had been a bad few months.  Jane’s tumor was progressing and the new medication she was taking was causing her intolerable side effects.  (It was also only a few days after one of my marathons, and I was still tired and emotional from the race.)  Jane and I were in a doctor’s office looking for help in managing the medication’s side effects.  In a rare, public moment of despair, I started to cry.  The well-meaning physician (I think the right word is well-meaning—at darker times I think perhaps it is just plain unsympathetic), in an effort to get me to pull myself together, said, “It’s not like she has cystic fibrosis.”

What is that supposed to mean? I thought.  Can I not cry when I’m sad and frustrated about my daughter’s health unless I meet certain criteria?  Is it not enough that she is taking an experimental chemotherapy for an inoperable cranial nerve tumor?  I never made the claim that Jane’s problem was worse than anyone else’s.  I wasn’t looking for that kind of affirmation.  I was just a tired mom having a moment.

I know things could always be much worse.  In talking to patients every day I am startled and moved by what struggles other people confront and overcome: disease, disability, loss, infidelity, abuse, financial hardship.  In reading the blogs of others affected by neurofibromatosis I see some horrible complications of NF from which Jane has been spared.  And don’t even get me started on the suffering reported daily in the world news!  Believe me, I’m thankful that things aren’t worse.  But that doesn’t mean I’m not allowed to cry sometimes.  I’m only human.

“Would it help if I gave you a hug?” I was asked.

At that point, I just wanted to go home.  I dried my tears and rallied.  “No, I’m OK, thank you.”

The doctor, looking visibly relieved, said, “Oh good, because I’m not good at that sort of thing.”  (Really?)

Perhaps this is what tainted my feelings toward CF?  Could this same conversation explain my grudging support of the Make-A-Wish Foundation when the request for donations came home from Jane’s school?  The same doctor—at the same visit—offered, unprompted, to nominate Jane to the Make-A-Wish Foundation, but then rescinded and said, “Actually, I’m not sure Jane would qualify.”  First of all, I know several children with NF who have been granted wishes from this organization; but second, I hadn’t even ever considered Jane a candidate for Make-A-Wish myself!  I thought of the words of Miracle Max in The Princess Bride: “While you're at it, why don't you give me a nice paper cut and pour lemon juice on it?”

What is the lesson in all this?  I can’t tell you how often my thoughts have come back to this encounter.  It has triggered debates within me over the definition of suffering and its different meanings depending on one’s perspective and life experience.  It has affected the way I approach patients.  It has also made me reflect on when and whether to allow myself to dwell on problems.

There could be a much deeper discussion of the nature of suffering and empathy here, but I am not a skilled enough writer or philosopher to do it justice.  However, if I could provide a lesson to the pediatrician it would be this:  Don’t compare one person’s suffering to another.  Don’t judge someone else’s struggle.  Because, as my mother would say, “Everyone has a cross to bear” or, as Michael Stipe would say, “Everybody hurts sometimes.”  (Incidentally, for various reasons, the doctor in this story is no longer part of our care team.) 

The lesson for me?  More than ever I have realized the importance of educating people about NF so that it is not dismissed.  To that end, May is NF Awareness Month!  Like last year, I will be posting daily facts about neurofibromatosis on Facebook and will include the list here as well.

PS I am now happily registered for the OutRUN Half Marathon!

Running Update:

3/22/2015	5.0 mi	46:49
3/24/2015	3.2 mi	29:48
3/25/2015	5.0 mi	49:11
3/27/2015	5.0 mi	44:44
3/29/2015	7.4 mi	1:12:11
3/31/2015	3.3 mi	29:01
4/1/2015	5.6 mi	53:01
4/3/2015	5.0 mi	46:00
4/5/2015	8.1 mi	1:18:07
4/7/2015	5.0 mi	48:59
4/11/2015	3.1 mi	28:45
4/12/2015	9.1 mi	1:30:29

Spring has sprung!  What gorgeous weather.  This weekend I put on shorts to run for the first time this year—hooray!

NF Update:

Nothing new to report with Jane’s NF, but instead a little anecdote that illustrated for me just how well Jane’s personality will serve her in dealing with the challenges she will face because of NF:

Recently Jane and I were tending to her scraped knee.  She wanted to clean it herself because the soap and water stung it.  She said to me, “When I have to do something that hurts, I say to myself, ‘Just do it, Jane.  Just do it.’”

(Or perhaps dealing with NF has already taught her how to face life’s littler challenges?)

Jane and Family Update:

For spring break this year we drove up north to spend a few days in Montreal.  Poor Alec got hit with a stomach bug the first night we were there, but we still managed to do a bit of sight-seeing and to have dinner with our cousin, Andrea.  Montreal has a vast indoor nature complex that includes a planetarium, an insectarium, a botanical garden, and a biodome.  We were able to visit the latter two sections before we had to head home.

Some pictures from the butterfly exhibit at the botanical gardens :)