Lift Up Your Hearts!

We walk by faith, not by sight. — II Corinthians 5:7

The "faith" part is still strong, but the "sight" part is hard to take.

For several months, to all appearances Grace has been as happy and healthy a three-year-old as anyone could want, free at last of medications and living a normal life except for the more frequent medical examinations and tests. Her language has been exploding; she is bright and funny and happy. She delights in her family, and frequently initiates video calls with Grandma, Dad-o, and Noah.

But NF1 (neurofibromatosis type 1)—a genetic disorder that Grace was born with, though it was not discovered until after her second birthday—has long been the elephant in the room. For a year NF1 considerations had to take a back seat because of the immediate need to deal with the dinosaur in the room, her JMML (juvenile myelomonocytic leukemia), which was caused by the NF1 mutation. Thankfully, for all that time the leukemia was the only manifestation of the disorder.

Actually, another problem had been there all along, but was hidden. As you may remember, her audiologist noticed a mild hearing loss in her right ear at her first exam, and again subsequently—but in every case there was something else to blame it on (a cold, COVID). Now, however, the doctors have turned their attention to it, and to a small lump Heather had noticed in that ear. After months of bouncing around—from "no worries, it's just fluid in her ear," to "maybe it's a neurofibroma, we'd better do some testing," to "it might be a fibroma, but that's not causing her hearing loss, so we'd better do some more testing," to "great news, it's not an NF1 fibroma at all, but we're going to take biopsies to be sure," to "oops, the biopsies say it's definitely a plexiform neurofibroma, and the options for treatment are not pleasant." And then on Wednesday, "the neurofibroma is much larger than we thought, and Grace needs to start on a novel medication that has all sorts of potential nasty side effects, for which she'll need to learn to swallow a pill whole twice a day—and take it for at least two years, maybe for life." Knowing Grace, she'll take it all in her stride, but it's rather hard for this Grandma's heart to take.

In Heather's words:

We had our appointment with the NF1/oncology doctor yesterday. It turns out the neurofibroma is even bigger than we thought. In addition to what we already knew, which is that it goes from her external ear where we can see into her middle ear, it also extends down under her ear into her parotid gland which is a salivary gland in the cheek. This is a plexiform neurofibroma, which is something that has actually been there since birth. And it has grown over time. (There are other neurofibromas that can come later possibly, but they are not the plexiforms.) This plexiform right now is benign, but it could potentially become malignant at some point. An initial screening has indicated that this one is one step towards becoming malignant, but they are still unsure of how many steps the body takes to get there.

Grace will be going on a medicine which is designed to shrink the tumor, and it may prevent some other kind of tumors. This medicine can have some unpleasant and even dangerous side effects, including diarrhea and rashes, vision impairment and heart issues. So Grace will be going in monthly and then every 3 months to check on all those functions. Right now, the plan is for her to take this medicine for 2 years, and then reevaluate, based on new research and her body's response to the drug.

One fascinating thing that I learned yesterday is that the longer hair on her right side that we have noticed since she was very young is related to this neurofibroma. The doctor said that because of extra vascular activity on that side it is not surprising that it would cause faster hair growth. When I heard that, I went back to my list of Grace's symptoms that we made before her NF1 JMML diagnosis while we were trying to figure out what was going on with her. I noted that she also would get redness on her right cheek when she ate sometimes. We thought at the time it was an allergic reaction, but it is likely due to the extra vascular activity. (It still happens sometimes.)

This will be TMI for many of you, but there are several medical people who will read this and be curious about the drug. It is called Koselugo (selumetinib) and you can read all about it here. When I think of the terrible potential side effects of this very new drug—it was granted FDA approval only in 2020—I remind myself that until five years ago there was nothing they could do for inoperable neurofibromas but let nature take its course, likely with effects worse than the drug.

Some of you may be wondering (I hear you Grandma!) why could they not see this in the imaging. The reason stated is that the plexiform neurofibromas are a soft and spongy tissue, and is easy to not notice them, and/or think that they are something else. The ENT even said that it's made of the same kind of tissue that your outer ear is made of anyway, so then it's really hard to distinguish.

On top of all that, Heather just added:

Grace's kidney numbers from her lab draw yesterday were concerning to the doctor, so she's getting another draw today and then an ultrasound on Tuesday.

Prayer requests:

• That Grace will be able to swallow the capsule (twice a day!).
• That she will not have any serious side effects. We would also appreciate if she didn't have any other side effects. It's been really nice the last few months to not have to deal with diarrhea.
• That the medicine will do its job, which is to shrink the tumor. I forgot to ask if her hearing loss is permanent or if it could come back with tumor shrinkage.
• That the results of her kidney tests will be good news.

Thanks for hanging in there with us!