neurofibromatosis type I

And we know there's certain gene mutations which show us it's from the skin.

So the important ones highlighted were the BRAF genes, the TP53, NF1, P10, and KIT genes.

Those are unique to a cutaneous melanoma.

Where on the other side, uveal melanomas, there's a different mix of genes.

So, "We could use a little help for our sweet boy.

Our son has scoliosis and NF1, which means frequent trips to Texas for braces and checkups, regular visits with specialists, and MRIs to monitor the changes along his spine.

Desperate- Despite everything he has to go through, he continues to be one of the happiest, sweetest, silliest kids.

He loves frogs, snakes, dolphins, bears, horses, and all simple things in his life.

BRAF is one of the more common.

NF1 is one of the more common mutations, we still don't have perfect therapies for these patients.

And we had at Tumor Board a nice presentation by one of our colleagues at Mass Eye and Ear who also discussed with us about the difficulty with some of the medications for orbital invasion of conjunctival melanoma.

So we still have work to do ahead of us to really get a better grasp on what works for conjunctival melanoma and what doesn't work.

They call them cafe latte spots.

Uh, so the first diagnosis that Will had was neurofibromatosis, uh, NF1.

Mm-hmm.

And, uh, it's a condition where, uh, the nerves in your body tend to cluster into sort of these fibrous tumor kinds of things.

Yeah.

And I can relate to that as well.

Um, you know, Hannah's cancer diagnosis and then a year-long journey and then her death, yeah, it turned that file folder, all my neat little file folders, because I do like neat little file folders, were all dumped out on the floor, and I had to pick those up and, like you said, look at every piece of it and make sure I had a, a place to file it.

And, and a lot of them were new places.

Hmm

... or the acknowledgement that I'm an NF1.

But that night when it was released, a woman reached out to me called Mona Sobhani, who's subsequently become a dear, dear friend, and she was a rationalist neuroscientist that went through her own dark night and brought into it the study of psychic phenomena and reincarnation, two things that I'd assumed were for low discernment spiritual morons.

And-

Our NF journey started with Audrey when she was 18 months old in 2022.

She was diagnosed with NF1, narrow fibromatosis type 1. through genetic testing.

She then underwent some MRIs and we found out she has a brain tumor.

Now her family walks as Audrey's special spots crew, raising awareness and money for research.

My daughter having to go through her battle with NF1, all of the other families here, we really just need to find a cure to help them live long and healthy lives and to not be seen as someone who looks different.

For these families, the walk is also a way for them to find each other.

These moms built me up.

That opportunity to enroll on that trial.

And, you know, it's an NF1, but actually when you add it all up, there were a significant number of people who benefited.

And I think, you know, it came back to having that really great teamwork between a university, between an NHS health system, between a consumer group, and companies that were really vested in...

Listening to consumer advice, positioning the products in the way that made sense and building that, you know, joined up continuum.