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