Angelman syndrome

She lives in the Houston area with her husband and her family.

Sandy's advocacy work began with her son, Brandon, who has Angelman syndrome, a rare genetic neurological disorder requiring lifelong support.

What started as a mother's determination to give her son the best possible life grew into a passion for helping other families find their voices.

Along the way, she experienced the joys, heartbreaks, frustrations, and unexpected blessings that come with raising a child whose needs don't disappear when childhood ends.

But in the beginning, it was a challenge because he would fight it.

He would push away.

And I want to explain a little bit for the listeners about what Angelman syndrome is and how it affects him so they have a better understanding of where I'm coming from.

And I didn't do that earlier.

These two sales bring in more than $400 million in about a week.

That is a meaningful source of capital, particularly for a company that recently reported a Phase 3 setback in Angelman Syndrome, as we discussed in Episode 7.

But the broader point is that rare disease innovation depends on more than just scientific breakthroughs.

Financial incentives can help companies continue investing in therapies for patients who have few or no treatment options.

Catherine gets to fly, I think, to Florida where there's a FAST meeting and Virginia is going to meet Catherine in Florida and go to FAST.

FAST is the Angelman organization and they do incredible work and we're going to learn from them.

So, you know, keep all of those people and me, by the way, in your prayers.

All this travel is a lot of work with this community.

And she's nonverbal, but again, we don't, I don't, say that, Aria might say look at that and Mimsy might nod or point so it's a very subtle link to disability

Mimsy uses a wheelchair and World Letters donates a portion of profits to Angel Man Syndrome as you've mentioned and that is an important part of this, I guess your girls I guess your girls would be very excited at getting replies or reaction from kids all over the world

I hope so.

We've got some subscribers that have gotten in touch via email, but perhaps we should open up Postal Reply.

MECP2 for Rett syndrome.

Angelman.

Yeah, Angelman's really interesting, complicated biology.

Dravet syndrome, SCN1A, Batten disease, which different types can be caused by different kinds of mutations.

But...

Well, he did that interview, didn't he? Is that what you saw? The interview where he's talking about when you get told by the doctors? Yeah, there's another

celebrity who has a son with Angelman Syndrome.

Colin Firth yeah yeah Colin Firth that's the one yeah so Colin Firth is it Colin Farrell yeah yeah I'm just repeating what Sam's saying I'm just like yeah she's right Colin Firth was the

guy in Closer or whatever it was like Richard Jones Colin Farrell yeah

And what does that mean? What are the special needs? He's got a

thing called Angelman Syndrome.

Angelman Syndrome.

No, it's a micro-deletion of chromosome 15, I believe.

Okay.

And.

This meeting was a huge labor of love, led by Terry Jo Bichelle, who is the CEO and founder of Combined Brain, who is the mother of 21-ish-year-old Louie, who has Angelman, and is just a fearless, tireless saint who fights for all rare diseases.

And I...

I just cannot tell you enough how impressed I am with Terry Joe, with Combined Brain, and now with this meeting was it was a new high.