ABOM Facebook Live #2

Alright! Hi again! We are the Angelman, A-BOM group. Here to bring you another quick, live Q&A session. So again, my name is Anna We've got Terry Jo here and Barbara. And, um, yeah, we just wanted to thank everyone, first off, for following us on Facebook, and Twitter, and everything and for taking our survey. Thanks to those of you who participated and if you liked that, you can always send us a message and let us know if that was a good way for us to, um, get some information out to you before this Q&A session. So again, how this Facebook live works- it's pretty easy. We're going to be talking about things, but feel free to leave a comment or question at any point and we will try to address it as soon as possible. Yeah, and just, a quick few updates about our Facebook and what we are trying to accomplish and build upon our A-BOM group: Currently, um, we- This, this Facebook live is going to be in English, but we are working on broadening it to our bilingual ah, group- our bilingual community, there we go. And so, we will be featuring live chats in Spanish and we'll have a little announcement afterwards about that. Anna: And- Terry Jo: But, not today. Anna: Not today. Terry Jo: Today we're not doing it in Spanish Anna: We can't do it off the fly like that. Terry Jo: We're not ready. *laughter* Anna: So yeah, if you have any other suggestions or positive comments, know that we have, again, we have a twitter, and we have a Facebook group, and we have all kinds- we have a blog. Feel free to always send us a message at any point and we want to hear your contribution and if you like what we're doing, if you want to make changes- Happy to help. So, we will start with some of the things that were on our survey. It seems like most of you are pretty okay with basic definitions; we will go over that really briefly before we dive into some of these things Um, but we will mostly be talking about the current outcome measures that you guys have been hearing about and the Registry that you can join if you're a friend or family and you want to help in some way, but aren't necessarily scientists. So yeah, so- So, to discuss the current outcome measures, really quickly- Barbara, can you give us a definition of what the difference between biomarkers and outcome measures? Like a sentence or two? Barbara: Of course, yes. So, of course we're the Angelman Biomarkers/ Outcome Measures, A-BOM, so just to distinguish between those again: A biomarker is really something that is very objective, something you might see in a medical chart, or something that your doctor might take a blood sample or urine sample to find out. Whereas an outcome measure is really subjective to more behavioral type of thing, what- what really impact the patient and his/her way of life. And that's really what- you want to incorporate both of those things into studies and hopefully do improvements and therapies that really treat both of those. Both the biological health, and, just, everyday life and quality. Terry Jo: So, a biomarker could be like pee, or poo, or EEGs, or something else like that. And outcome measures could be where- scoot in, scoot in- where where the psychologist or the doctor or the investigator might call and ask you, "How are you feeling about you child's abilities?" or, "How is your life?" or, "Are you happy?" or, "Are you-" you know. That's an outcome measure But, outcome measures can also be kind of objective, too. And so, um, so we're going to talk about some more of those later. Anna: So, that's a simple recap and we have a couple of blog posts that we've posted in the last couple of weeks that have more explanations on that, if you're still a little unclear. But yeah, those are the definitions - nice quick overviews. So, now getting into the outcome measures: What can you tell us? What are scientists looking to possibly research in the future when it comes to outcome measures? Terry Jo: Okay, so the thing about outcome measures is that we need to find something that really makes a change in your life. So for example: If your child with Angelman Syndrome doesn't use the toilet - or isn't able to tell you that he or she has to go to the toilet, or even if he can tell you he has to go to the toilet, but he still has a lot of accidents - then, one outcome measure might be incontinence. That might be something that we could consider to be an outcome measure. We could say, like, "Well, what if we gave them a new treatment, or a new medication, would that get better? So, in fact, Barbara has just been reading a new paper about incontinence. This is not something we've ever used as an outcome measure in Angelman Syndrome up 'til now. But maybe, Barbara, can you tell us a little bit about that? Barbara: Sure. So, there was a study that just came out in the last month or so that looked at - and it's just a very descriptive study, so they didn't try any new drug treatments or anything. They just wanted to know how much of the Angelman Syndrome population is really affected by incontinence. And that's day incontinence and also nighttime, also known as bedwetting. So what they did is they asked a bunch of caregivers and parents to fill out a survey. And they - I think they had over a hundred participants, which is really good. And they had both children and adults. And so that was another thing that made this study really interesting is that they looked at not just children, but also adults and they looked at daytime versus nighttime, too. And they found that this is a really common thing for Angelman Syndrome. So, their specific definition of incontinence was more than once a month. So, not as frequently as daily, but still just often enough to potentially be a problem. So, they did find that this was really this was something that is common in Angelman Syndrome. Terry Jo: Okay, so what you Angelman parents- you already know a lot about pee and poo. And you know ahead of time that this could be a good outcome measure. Maybe if it's something that we end up looking at into the future. But they had to study it scientifically. Barbara: And this was just the first thing you do in science is you observe; You want to get some kind of baseline observation and say, "Is this something to look into, or is it not?" And I would say, based on this study, it probably is. I mean, it seems like a lot of individuals with Angelman Syndrome are affected by this and this is something that needs to be looked into. Terry Jo: So, these are the kinds of things that sometimes we think we- they're really obvious, but they have to be studied scientifically and published in a really careful way, so that we could quantify. We could say, "Well, how many times did the kid pee in his bed?" You know, before the study and how many times did he wet the bed after the study? And then you could tell whether it was good or not. So, something like that. So, another thing about- Oh, and by the way, Barbara is gonna put a summary of that study pretty soon - I don't know exactly when, we're not going to hold her really tight on this *laughter* because she's- she's working on her dissertation, too. But, um, she's gonna put that on the website and we're gonna start putting those more and more. Summaries of studies that have something to do with biomarkers and outcome measures. Barbara: Or potentials biomarkers. Terry Jo: Or potential, some day. Terry Jo: So, another thing is, um, Should we talk about the disease concept thing now? Anna: Yeah, yeah you can. Terry Jo: Okay. So, another thing is, um, we're already working on something called the Disease Concept Study. And this is another one of those things when you're a parent of a person with Angelman or family member, you think like, "Oh my god. I can't believe they don't know what Angelman Syndrome is. They have to write a disease concept study. But, it's way more complicated than that. Because we already know what the kid- what the person needs to have to- what symptoms the person needs to have to be diagnosed. So, we know that; we have a good list. We already know the genes that are involved and we know a lot of other things, in fact, we have a brand new study on incontinence. We know all these different things. Anna: So, it's more of like the hard science, what we're trying to expand on the concept of the syndrome. Terry Jo: Yeah. Kind of like- Well, I think what Anna means is and, um, she has met Louie and knows him pretty well - my son Lou with Angelman Syndrome - and what she is saying is that it's the things that you only know when you really know the person. So if you're really living with someone with Angelman Syndrome, you might want to talk about how your life... Like, it's hard for me to cook dinner unless someone is keeping an eye on your child with Angelman Syndrome. Because while you're not looking, the person with Angelman Syndrome can get into mischief. Or, um, you might want to talk about how if you could, if if the person with Angelman Syndrome could shave himself, that would really help with life skills. But, it's worrisome to give a person with Angelman Syndrome maybe a sharp razor blade to hold. And so- Barbara: Sounds a little concerning *laughter* Anna: Yeah, especially with Louie. *laughter* So you might- this is the kind of thing that we really need to understand and that's- that's kind of how by really understanding what our lives are like with- the the lives of families of people with Angelman Syndrome, and caregivers of people with Angelman Syndrome, and the lives of people with Angelman Syndrome. What their lives are really like and we want to do that- the way it's going to happen is that a person is going to call- a research is going to call and interview you by Skype, like this, face-to-face. And ask a lot of questions that are open ended. So instead of saying, you know, "How many times a day does your child wet the bed?" Instead, they're going to say something like, "Tell me about your day." Or, "What is your, you know-" "What do you normally do in the morning?" And so then, bit by bit we are going to be able to put together what it's like to live with Angelman Syndrome. Barbara: Because, you know, one individual life can be vastly different than another family who is also affected by Angelman Syndrome. And that isn't really, you know, you don't really see that in the diagnostic criteria, it's just a list of- Anna: Right, the diagnostic is just like surface level. Barbara: Right. Anna: where they're now, with these outcome measures, wanting to dive much deeper into the personal lives of these Angelman kids, right? And I'm coming from a non-scientist perspective so (laughter) Barbara: and how therapies can, like, make that better. Because right now, just the diagnostic right here is well, we can address this one thing scientifically, but is that really going to reap quality of life? You don't know until we have some measurements- a baseline measurement- of what are the lives like in the first place. I mean You're life is not gonna be necessarily the same as someone in, you know, Turkey or something, you know different culture and resources and everything. Terry Jo: Well, and even kids that have the same genetic, exactly the same genetic mutation and are the exact same age can be really different with Angelman Syndrome. So in fact, I have a friend that has a son who was born on the exact same day as my son and they have very similar genetic class and they're really different. And so, it's important to know what their lives are like, what our lives are like and then, if a drug came along, you know, what would they want to see that would make their life better compared to what we would want to see with them. And the other thing is we need to understand about side effects. Like, what are people willing to put up with to- for example, I mean, you can sort of think about like the, weighing the risk and the benefit. Right now, I'm getting, pretty much, sleep. What would I- would I put up with getting- my son having worse sleep if he could communicate better? I mean, I hope I would like to say, "Yes, of course!" I would put up with less sleep if he could communicate better. But, you know, we need to understand all of those things and not having enough sleep is pretty stressful for everybody it could wreck the whole family, they could be affected. So you know, we have to understand, what about side effects? And what side effects are okay and tolerable and what side effects are just terrible? Anna: So with Disease Concept... Committee, I guess? Terry Jo: Paper Anna: Yeah, the Disease Concept Study, is it what is- is that the goal? Is it that we're just reaching, trying to find outcome measures or Terry Jo: The goal is to really understand what life is like for people who have Angelman Syndrome and their families. And then by figuring that out, we hope we can then figure out the right outcome measures. So like right now,- Well actually, that leads right into the other thing I wanted to talk about, which is the Modified Bayley. Anna: Yes, yes, this is good. Terry Jo: So for example, right now one of the outcome measures that's used a lot is the Bayley. The sun is shining and making us stripey (laughter) It's okay Anyway, the- right now it's the Bayley Exam that a lot of kids get. When they go in, they have some kind of study done and a lot of parents do not like the Bayley Exam. The Bayley Exam is really a way that that the developmental psychologists can tell what your child can do. And it's really great for babies and it's not made as well for kids with Angelman Syndrome because there are some things that they would like to do, but they can't do because of their motor skills get in the way. And so, a lot of parents feel like the Bayley doesn't really show what their kids can do And also, there are all these questions on the Bayley that the kid has to answer verbally. And if-Anna: That's really problematic (laughter). Terry Jo: Yeah. And if he doesn't answer, then they have to say he got it wrong, even if the kid can answer it on iPad, or pointing at a flashcard. So, so- Like a parent might be able to say to someone, "My kid can tell me what TV show he wants to watch. He loves to watch TV and he really prefers, you know, this show to this show." But, and so, that shows you a pretty high level development, but the Bayley might never describe that the kid can be at that point in his life. So, one of the things we're working on- not us three, but A-BOM is working on- is trying to work with researchers who are specialists in the Bayley. And there's a group in Boston, there's a group in North Carolina, and there's a group in the Netherlands. And all these people are working on the Bayley and working on Angelman Syndrome and trying to come up with a way that would make it easier for Angelman kids and grown-ups to answer the questions. And also, maybe, make it more- better able to measure what they can do. And so, that's called the Modified Bayley. So if we did that, here's the trick: people would have to come in, and still take the regular Bayley, and also take the Modified Bayley, and then see if the Modified Bayley is more accurate. So, yeah. This is where you guys come in because we need y'all to be interested in this stuff, even though it's so boring (laughter). I mean, we need you to be interested in it because this is how we're going to be able to find out if drugs are working or not, and this is how we're going to get stuff through the FDA. You know, it's a big deal. Anna: Yeah, it is a big deal. Terry Jo: Even though it's dull. Super dull. Barbara: Sometimes it seems, like, new though. Terry Jo: Yeah, a little bit. Yeah. Like, you might be sitting there for an hour & a half or two hours, I don't know. It's totally worth it. Yeah. Anna: So, anything else you guys want to say about the outcome measures and current finds that pop into your head? Anything to discuss? Terry Jo: Let's see. Another one that we've been working on, a proposal is called ERP, which is Event-Related Potentials. And this is more of a biomarker. Anna: Oh okay. Terry Jo: But- yeah. And what- this thing is where they they put almost like a hair net over your kid's head, but it's really EEG things. But- and most people with Angelman Syndrome have had EEGs so you're familiar with that. But you also know how they have to stick the lipids on there and (...). This is a lot easier; they just put this little hair net thing down and it has a lot more electrodes. (Cool). Yeah, it's fun. So, it measures like 50 points at the same time instead of just 6 points. So, in some ways, it's got more stuff to measure and other ways, it's a little less accurate. So the EEGs that you get for epilep- for, when you go in to have your