 So my job of course is to get you to talk about what's what and Donna did such a spectacular job of Showing us how this impacts families and I think earlier. We suggested maybe the program could use a Patient family advisory group just to bounce things off of and to get some ideas But my own feeling is this is a unique opportunity to actually look at the psychological dimensions What families go through I remember years ago thinking probably you could classify them kind of into 10 groups And then you could give the right counseling at that time for those groups But clearly without a diagnosis with a diagnosis and know nothing to do with it Already part of support groups. I mean there's some very specific Classifications for families and to start to look at how they deal depending on their classification Could be something really useful You all know there are support groups the alliance brings them together but as Donna suggested they do very different things and so also looking at the support groups and Thinking how they can be our partners and educate each other may be useful things So let's open it for discussion. What would we really like to learn from and Give back to The families who take part I was I was just going to say listening to various Interventions and from them the mom as you call yourself, you know, I I was thinking of my my own involvement with families in the field of disorders of sex development and I'm the PI of another network that's an ICHD funded and we do have an advisory Network with patients representative on it and they're actually on the leadership calls and they're on the Which would be equivalent of the steering committees and and it's been great I was thinking however that it's not always woman fuzzy Maybe because of the topic which is probably one of the most contentious topics in in in Pediatrics, which is things about gender assignment and genital surgery so there are a lot of frictions with the with our patients representatives and Because the the goals are not necessarily the same all the time You know the the scientists want to do science and they're like all this family is interesting not because it's Not not because we you know to be honest just like just help them But it's interesting because there's this really cool mutation But of course family is with an ordinary mutation again. Okay, you know, it's not so so there is A lot of give and take and it's it takes it takes a lot of efforts from both parties to to to sort of build common ground. So I mean I I'm really For the UDN to to invest more efforts probably It requires funds to bring the family those small organizations They can't they need to be traveled to to steering committees and so forth. So Just to Forward a proposal would it be possible that each of the networks take some different psychological aspect and study it? Theoretically if you get it set up, it wouldn't cost a huge amount of money But is that something the networks have talked about doing or are there any? standardized tools that are being used to assess Well-being and how that might change over time So Rachel, are there are there standardized psychological things? Yeah Yes, so we have a couple of things going on one of one of which is the genetic counseling and testing outcome scale that assesses Sort of feelings of empowerment before and after participating in the UDN and and over time And I know as part of of John's U3 group there. There are also aspects of looking at patient outcomes Some of the things we do struggle with are we saying we're giving so many surveys and questionnaires to To the patients that we start to think my goodness Are we just over burdening people and in a desire to do the right thing? But actually just overworking them And I think that the second thing is You know how much of our resources should we should we focus on for instance looking at the psychological aspects? and I think some people in our network are are very interested in this and Versus how much should we spend on making sure we are what? What I view at least is fulfilling our basic contract with with our patients that is making sure that the right information Gets back to their clinicians and and and that we follow up on those aspects of their care With with the great attention to detail Sue so I know this is set up with different centers having different responsibilities and and Is there any intrinsic reason why there can't be some overarching questions that one center takes charge of and Interrogates all the centers of for example this kind of thing Because so somebody somebody one of the centers had somebody who was very expert in family and social dynamics This would be a really unique group of patients under which You could get a lot of information from this group of Centers as opposed to an individual center. So by definition they don't have a diagnosis So we don't know who's fault it is So you could do some studies before you know who's fault it is Rachel I just want to clarify that at least in the cases of the surveys. I was talking about is these are being done network-wide Yes I think one of the initiatives that's ongoing in the network is the patient Directed phenotyping so there are some projects that are underway to evaluate When patients themselves provide the phenotyping to the clinician and then potentially to the sequencing Cores as well and to compare that to Physician-directed phenotyping and I think that that's one resource that could be a very useful tool going forward Because you know with the medical record sometimes you see errors in the medical record and they get propagated from physician to physician So I think that if patients have the tools to phenotype themselves and that can be used Going forward in their evaluations that might be a very useful tool to come out of the network I got the impression from Bill though that those they often Diagnose something that really isn't there or that's not objective. It's actually subjective so that that could be a problem But I think this Section is really aimed at What are the families going through and how do we understand that better? So I think one can do surveys and questionnaires and analysis and interviews and What you'll find out is that having a diagnosed having no diagnosis really sucks so tell me how that's beneficial for us to sort of Provide granularity to that unless we're going to treat Because I'm sure people can do research on that and say oh, yeah, it sucks in this way or sucks in that way You know, but we have seen about a thousand patients a hundred three of them are dead Should we be pursuing, you know things that as distant sites as consultants? We can't actually follow up on well know the care of our patients with in terms of genetic counseling as well as as Psychological counseling has to be done by the local physicians So we can learn more about you know the extent of this etc But we really need these families need care for that and Some of them need to have a diagnosis so they're not among our 10% that are dead So Bill just to give you a little bit of pushback in Death and dying there's a process you go through and not having a diagnosis and then getting one But not having anything to do with it I would guess there's also you know rejection acceptance and then working with the problem and having Studied that sufficiently that you can say we know this is a process Might be useful to those families coming to terms with living with okay We got a diagnosis, but it didn't help us at all and that mom and dad or wife and Mother-in-law do that at different times in different ways So that's just to kind of put it out there And and maybe studying that You know in these next five years for example might provide some best practices to those clinicians Out there because I agree I think that there has to be as in the earlier session some transition of care And I think this would be an important aspect of that care is the psychological support That the patient and family needs and but maybe we don't really understand what those needs are and this would be an opportunity to figure some of that out Donna I just would like to make a pitch for Helping the families with the what next problem rather than Trying to figure out where they're at in a way like what so I Want the diagnosis or I didn't get one and what's next and I really think that if we're gonna think about Patient engagements and the sustainability of this whole process Even when it leaves here, then it has to be what's what next there It can't just end there It has to be what's next and it's not always in the hands of the primary care person It's in the hands of the people and they have to be taught what's next and how to do that Yeah, so I was gonna second that that a lot of it comes from empowerment, you know And so we get while it may be friction in in some of these interactions But if you empower the local clinicians through the collaborations that we talked about in the last session Or whether it's the patient advocacy groups If they give something that they can do with the information we provide them then then in my in my book It's been successful Whether it's with an actual diagnosis and this is what you need to do or we didn't get a diagnosis But this is what you need to do and this is what we will do or continue to do. I think that really matters Brandon So following up on that comment, I think that's exactly correct If you think about the history of patient advocacy and a rare disease, you know It starts with the diagnosis the clustering of families and then the focus on understanding natural history and then ultimately driving Often by families therapies and there are many excellent examples of this over the past three decades So I think where we're at is when you think about undiagnosed disease are you're dealing with the rare rare diseases? And so probably the first step is in fact the diagnosis and then maybe really what we can do is bring those families together To start them on this journey Well in this day and age of the internet, right? I think there are some programs like that that might you know might and then in a constructive way I just want to point out I'm passing the patients are the lobbyists. I mean the families can get stuff Can lobby for things so that you can then go on with programs and research and everything This is where I think well what bill was saying about seeing one patient and then Selecting others additionally to begin that clustering is extremely important because otherwise you never leave the end of one problem and then we don't solve any of these situations, yes So I'm sure it varies from Individual to individual I imagine most of the patients that are coming into the network have received a diagnosis but it may be a syndromic diagnosis you have epilepsy for example and for many many patients with epilepsy That's the answer and they don't need anything more and for others They need to know why and once they get the answer why Very often than the ants then the next step of what do I do about it is aside from genetic counseling and family planning perhaps is Well, you know keep taking the same medicines you're taking because this is how we treat epilepsy So I think that you know each Each category of disease probably has different experiences I think there is some value in figuring that out But I imagine most of the people coming into this network are those who are not satisfied with you have anemia Or you have epilepsy, but but you know really want to know something you said who whose fault is it? And that's what they really want to know is whose fault is this? so some people do and and some people want to do is don't suggest to just give me my plan and It's going to be very different And so I mean personally I would advocate for trying to find some ways to separate them out Maybe having five different kinds of sheets you hand out as you go out the door to see which ones work best for which kinds of patients Because I think they can be separated into the guilt room the we're not going to lose face here The I'm just action oriented. I think there are distinctions and they change over time Yes So a role that Nord has historically played is for when patients are first diagnosed with the rare disease they come to us And they say, you know, what do I do who do I go talk to and then we say well There are these three foundations out there that advocate for your specific disease You can talk to this person here if you're looking for clinical trials or looking for a specific clinician that Might be an expert within your disease and those organizations exist for I guess the well-known rare diseases But for an individual who's leaving the undiagnosed disease program with a diagnosis They might be the only individual with that diagnosis. There is no patient organization for them There is no expert out there who can say this is the clinician that you should go to these are the clinical trials that you might possibly be Possibly be Qualified for among other things and so those but these undiagnosed patients who are now newly diagnosed Possibly as the only patients still deserve those same answers And so I suppose it falls to either a patient organization such as Nord in order to try to help to help them or Organization such as UDN UDP to work with organizations such as Nord to kind of coordinates that process of Transitioning patients outside out of the UDP to organizations such as Nord or others Yes, sorry Where there may not be a clinician because there is no diagnosis But lots of folks around this room are clinical geneticists And and this is what we deal with all the time where you suspect a genetic basis for the condition Maybe because of family history or a certain constellation of findings So I wonder if kind of networking with clinical genetics expertise across the country across the world as a Way to help Facilitate that transition back to you know the other healthcare providers involved on that patients team Maybe the clinical geneticist should be the the medical home for that patient with that undiagnosed disease So we are running out of time I don't see any hands that are just absolutely want to speak out and if I can summarize it looks as if this issue of how Patients and families go home could be looked at and that perhaps Different approaches in different parts of the network might lead us to have a better sense and that the overall Pro in this age of participatory research To have some sort of advisory group not necessarily on the steering group But some kind of advisory group that could give us some feedback about how best to do that Partnering with organizations like Nord of the Alliance that already exists partnering with known Support groups who fit best even though they're not perfect Give some opportunities for things to think about for the future, and I think that's it