NIH Update

Running Update:

June running to date:                   68.1 mi               11:22:25
June swimming to date:               5.7 mi                  4:17:00

Happy summer, everyone!  I took a short break from running after the Flying Pig Marathon last month, but now training for the Berlin Marathon in September is already in full swing.  We’ve had beautiful late spring weather here in Connecticut (with the exception of those few smoke filled days courtesy of Quebec).  It’s been perfect for running and being outside in general.

NIH/NF Update:

I delayed in posting my report from our trip to NIH last month until we had all our test results and a formulated plan.  We are still waiting for one more piece of information (which I’ll describe), but I thought I’d finally catch you all up with what we have so far.

As usual, we had an action-packed day at the NIH Clinical Center.  This was our schedule:

8:00am- Labs and urine test- Phlebotomy 1st Floor

8:30am arrival for 9:00am scan- MRI (Right Humerus), Radiology, 1st Floor

9:45am- MRI (Face, sinus, ENT), Radiology 1st Floor

11:00am- Vital signs (3 hts, 3 wts) -Pediatric Clinic 1st Floor

11:15am- Consult with Donna Barnett- Pediatric Clinic 1st Floor

12:00pm- Meet with Maggie RN (pill count/diaries)- Pediatric Clinic 1st Floor

12:15pm- Meet with Dr Margarita Raygada, Genetics- Pediatric Clinic 1st Floor

1:30pm- Physical exam with Anne Dufek- Pediatric Clinic, 1st Floor

2:30pm- EKG, Near Phlebotomy 1st Floor

3:00pm- Echo, 5NE, 5th Floor

I should point out that on this day Jane entered the MRI scanner at 9am and didn’t come out until 10:30am—90 minutes of continuous scan time!  #rockstar

Jane’s lab work was all stable, as were her EKG, echocardiogram.  The MRI of her right humerus was a follow-up to an abnormal bony finding on her full-body MRI last December.  Happily, the irregularity seen in that bone is less prominent this time, so we don’t have to do any more testing for this issue.

More good news: the MRI of Jane’s right-sided plexiform is also stable.

The newest problem:  along with NIH and our hometown pediatric ENT, we’ve been following another NF-related mass under Jane’s tongue for the past 6 months.  In retrospect, it was present on her MRI in December, but Jane didn’t notice it until January when it started getting larger.  Imagine a couple of big marbles attached to the base of the underside of your tongue and you can understand what Jane’s been feeling.  It’s become bothersome enough that we’re finally having it removed surgically next month. 

The area of concern in December 2022 (right) and now (left)

Before any operation could be planned, we had to first determine what the mass was—it was unclear just from physical exam whether it was an extension of the existing right-sided plexiform, a new neurofibroma, or some other type of growth.  After lots of discussion and an MRI dedicated entirely to Jane’s mouth, the thought now is that the mass is actually Jane’s sublingual salivary gland, significantly enlarged because of some effect (pressure? blockage?) by the plexiform tumor.  Thankfully, the gland does not seem to have been invaded by the tumor itself, and so can be excised without worrying about detangling it from the plexiform (which would be a much more complicated procedure).  The plan is to remove the entire salivary gland.  (Our ENT reassures us that we have enough salivary glands in our mouths that removing one doesn’t make a difference.)  We’re not exactly sure of the precise details of the surgery except that we know it will be an outpatient procedure done entirely though the mouth, and that Jane will be sore for several days afterward but that it shouldn’t affect her overall activity.  We will keep you posted!

There is one other development since our last NIH visit in December.  Recently, our team was able to reanalyze the abdominal tumor that Jane had removed in 2020 for newly discovered genetic mutations, a process called genomic profiling.  Genomic profiling may be done on tumor tissue to look for mutations or other genetic changes in a tumor's DNA. This may help doctors understand how different types of tumors form and respond to treatment, which may lead to new ways to diagnose, treat, and prevent other tumors.

The reanalysis of Jane’s tumor of revealed a mutation in the ALK gene.  The ALK (or “anaplastic lymphoma kinase”) gene is a gene that makes a protein that is involved in cell growth.  Mutated (changed) 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. While in Jane this mutation is most likely limited to the cells of the tumor that was removed (all tumors have changes in their DNA—that’s what makes a tumor different from normal tissue), our team wants to double check that it is not also present in Jane’s normal cells (a so-called “germline mutation”).  It’s unlikely that this will be the case (especially since she already has the NF mutation in all of her cells), but we are now waiting on the results of genetic testing collected from Jane this month to be sure.

As we usually do during our visits to NIH, we spent some time catching up with Dr Brigitte Widemann, our team leader, and her second-in-command, Dr Andrea Gross.  Somehow the topic turned to other NF clinics around the country and our research nurse, Anne Dufek, mused about whether we would ever use a different NF clinic closer to home if there was one available.  Our answer was a resounding “no”, since Jane and I feel like we get the best care in the world through our team at NIH.  Then we joked, “You know that person whose name is on all the NF papers and who is the leader in her field?  Yeah, she just gave me a hug and showed me pictures of her cats.” <3

Incidentally, the day we flew to NIH was May 17, which was also World NF Awareness Day!  My coworkers honored the day by wearing green—I was so touched.

Our team at NIH also celebrated!

Jane Update:

School is out for the summer so Jane is officially a high school junior!  (OMG.)  She got her first job this summer working in a local grocery store, and has already memorized lots of PLU codes.  Bananas, she tells me, are 4011 :)

 

Todd Update:

I’m going to take a bit of this post to celebrate Todd!  This spring he received several honors, including an endowed chair from Yale University and the Gold Medal Award from the International Society for Magnetic Resonance in Medicine.  Meet the Elizabeth Mears and House Jamison Professor of Radiology and Biomedical Imaging and Professor of Neurosurgery, Todd Constable <3