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Powered by LifeTypeWe 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.)
Please pray:
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.
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.
I guess that's it for now. Here's a collage of pictures that Grace took of Hope in the grocery store:
We continue to pray.
How hard it must have been to make this decision for someone who is to all appearances as happy and healthy as anyone could want, free at last of medications and living a normal life except for the more frequent medical examinations and tests. 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.
This just in: 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.
Praying!
So has Grace decided that she likes being on the other side of the camera?
She loves taking pictures!
Yeah, we asked about "what happens if we do nothing", and the answer was that it would continue to grow, and eventually would be disfiguring (if you want to see some gross pictures, google for "nf1 disfiguring" and click on images. The typical neurofibromas are the small skin flap things, and then the large things, often on the head and face are untreated plexiforms, so you really don't want to let them grow.
Grace's current tumor already extends from behind her ear inside to behind the ear drum, and then down in her cheek, and near her tonsils, etc. When she was having her biopsy last week, the doctor took the opportunity to feel around while she was sedated, since she noticed that her face wasn't quite symmetric, and so was more suspicious of a large plexiform, even before the ear biopsies confirmed it.
And of course, we don't know what direction it might want to grow, so could do more damage to her Eustachian tube, or towards her brain, more into her ear canal, etc. so there really isn't much of a choice, other than which of the three meds to choose from, and the doctor prefers Koselugo, and so that should be starting next week.
Though, due to her creatine numbers from yesterday, they are too high to add in a medication that increases the creatine, so they have prescribed 1500 ml liters of liquid a day, though that is way too high to be realistic - even when she had the NG tube, we never did more than 1200ml total, but we're giving her as much water as she can drink on her own for now, and we'll see what today's more extensive lab draw says, as well as a urine sample.
The preferred med only comes in pill form, so we have be practicing with tic tacs, and the first attempts didn't look like it would work, but Faith worked some more with Grace, and she swallowed one, and then tonight she swallowed one on the first try (the actual pills are slightly larger than tic tacs - 14mm long). She gets to chew a tic tac after she swallows one, and she is pretty happy about that plan, so she'll probably be fine once the med actually starts.
Insurance is going to pay all of it, and the pharmacist who called (and talked for 30 minutes, so you know it must be expensive...) said there weren't going to be any payment issues, but verified that it was expensive and that is why Shaws won't carry it - they apparently have to pay for the drug upfront and then get reimbursed later, and it is too expensive for their budget...!
But the Dartmouth specialist pharmacy is willing to mail it to us, and will call each month to check on symptoms as any changes might require dosing reductions/stopping, etc.
In less than 24 hours I've gone from praying she wouldn't need the nasty drug to praying she'll be able to take it.
Great news about the insurance; I didn't see any numbers for this particular drug, but when you inquire about cost and the company assures you that there are resources to help, you know it's out of sight. I was reading, also, that some insurance companies aren't nearly so helpful.
I know about selumetinib (Koselugo) and mirdametinib (Gomekli); what's the third drug?
Trametinib