The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike Graglia

[00:00:00] I'm Effie Parks. Welcome to Once Upon A Gene, a podcast. This is a place I created for

[00:00:09] us to connect and share the stories of our not so typical lives. Raising kids who are

[00:00:15] born with rare genetics and drones and other types of disabilities can feel pretty isolating.

[00:00:20] What I know for sure is that when we can hear the triumphs and challenges from others who get it,

[00:00:26] we can find a lot more laughter, a lot more hope and feel a lot less alone. I believe there are

[00:00:32] some magical healing powers that can happen for all of us through sharing our stories

[00:00:37] and I'll take all the help I can get.

[00:00:43] Once Upon A Gene is proud to be part of bloodstream media, living in a family affected by rare

[00:00:49] and chronic illness can be isolating and sometimes the best medicine is connecting to the voices

[00:00:54] of people who share your experience. This is why bloodstream media produces podcast blogs and

[00:01:00] other forms of content for patients, families and clinicians impacted by rare and chronic diseases.

[00:01:06] Visit bloodstreammedia.com to learn more. Hello and welcome to another episode of Once Upon A Gene.

[00:01:12] The podcast where we dive deep into the extraordinary lives of families navigating the world of rare

[00:01:16] disease and I'm your host Effie Parks. In today's episode, I had the privilege to speak to two

[00:01:23] wonderful remarkable friends and individuals who are not just rare disease parents but who are

[00:01:29] also on the front lines of leading the patient advocacy organizations of the disease their children

[00:01:33] have. They are dedicated and their job demands relentless advocacy. So today's conversation takes

[00:01:41] kind of a unique turn and we're peeling back the curtain on the often unseen struggle and the

[00:01:47] delicate challenging juggle of leading an advocacy organization while being a parent to a child

[00:01:53] with a rare disease. It is a journey filled with endless tasks, immense stress and a level of

[00:01:59] commitment that few can really fathom. Our guests open up about the need for support, understanding

[00:02:06] and recognition of this monumental effort from behind the scenes. This episode isn't just a conversation,

[00:02:12] it's a call to action. It's for the leaders in the rare disease community who might find solace

[00:02:16] and solidarity in these shared experiences. And for those considering starting their own advocacy

[00:02:22] journey, it's a treasure trove of insights and expectations. And for families who are a part

[00:02:28] of organizations, it's a little window into the daily lives of those who fight tirelessly on their

[00:02:33] behalf. So whether you're a longstanding member of the rare disease community, a new face eager to

[00:02:40] make a difference or if you're simply here to learn and support this episode will move you.

[00:02:45] So please welcome my friends Kim Nye from the Test Research Foundation and Mike Raleia from

[00:02:51] The Sengap Research Fund. Hello, Kim and Mike, welcome to the podcast. Thank you. I'm so excited

[00:02:57] to talk to you today. Today we're going to kind of talk about something that I feel isn't really a

[00:03:02] topic of conversation in the general landscape. I'm sure you guys probably text each other in

[00:03:07] the middle of the night about these topics, but I think this is going to be a really good place to

[00:03:11] sort of have an open and honest dialogue about all the stuff that goes into being a patient advocacy

[00:03:17] organization leader and a parent and a partner and all those things. And I think this will be

[00:03:21] really valuable for the families to understand kind of the enormity of it all and how best they can

[00:03:27] all show up and contribute, but also for your fellow patient advocacy org leaders who can

[00:03:31] kind of find some solidarity and maybe ping some ideas off of each other on how everyone can

[00:03:38] I don't know sort of best manage all of the things. Okay, so long intro here, but I want to let

[00:03:44] you both maybe share a little bit about yourselves really quick. I'm also going to link your past

[00:03:49] episodes in the show notes here, but Mike and Kim, could you both share a little bit about yourself

[00:03:54] and the moment that you realized that starting a patient advocacy org was not just an option?

[00:03:59] I'm Kim Nye and I think my biggest claim to fame is that I have four children and two of them

[00:04:05] have a rare disease and they were among the first diagnosed with their specific genetic disorder.

[00:04:12] It has a very unmemorable alphabet soup, it's SLC 13a5 and it's a citrate transporter disorder

[00:04:18] and because they were among the first diagnosed, nothing was in place and it was they became

[00:04:23] clear very quickly that there was a real need to organize our patient population and try to organize

[00:04:28] our research community and all the other stakeholders and so we started test research foundation

[00:04:32] in order to do just that. So my son is Tony, he's nine. He's one of two sons and he's only

[00:04:39] one affected and he was diagnosed five and a half years ago on his fourth birthday and

[00:04:46] I, the world was different than was Kim was diagnosed right? It was there was a lot going on.

[00:04:52] Kim is one of the leaders I went to and met and heard everything she was doing and said oh my gosh

[00:04:57] that's amazing and I also talked to you know the Dervace Syndrome Foundation and others and said

[00:05:01] it really doesn't make a difference if there's a patient advocacy group pushing on the science

[00:05:06] and there isn't one for Singapore one that's doing that so I need to start it and I had no idea

[00:05:12] what I was getting into. I'm glad I did it, I am still doing it, I'm going to keep doing it for a

[00:05:17] long time but I had no idea what I was getting into and the past five years have been nuts for two

[00:05:23] years I did it as a side hustle and then at some point my wife and I agreed that nothing was

[00:05:28] sustainable and so I left my career and I've been doing this pro bono now for three years

[00:05:32] and it's just incredible how big this this role is and how much it takes over your life.

[00:05:40] Yeah, can you talk a little bit more about that and maybe both of you give me your perspective on

[00:05:45] kind of like those first bits of I don't know maybe shock for a lack of better words of just

[00:05:51] how much work this is and the enormity on this and the impact that it has on balancing your

[00:05:56] roles as a parent and as a patient advocacy or a leader. Like Mike said, it seems like okay I can

[00:06:03] probably do this on the side this is clearly not like you know in my mind it doesn't it didn't feel

[00:06:07] like a job or even a career heading into it it felt like a real calling and a real passion project

[00:06:12] and so I think because there's so much emotion and heart behind it it was easy to fool myself

[00:06:17] that like oh I can just do this for a few hours a week and then it became clear that although we are

[00:06:22] nonprofit by name and I think people assume that that means like part time or hobby or just a

[00:06:27] fun side thing it's actually running a small business and so you have a lot of stakeholders.

[00:06:32] You have the families who you want to do right by and you want to listen to and you want to figure

[00:06:37] out you know what is most important to them in terms of quality of life and where they're struggling

[00:06:41] and then you have a research community that needs money needs to be connected with collaborators.

[00:06:47] You have industry where you're trying to say hey our gene our disease is worth studying

[00:06:53] and you're really building this nice package of data for them so that it's easy for them to study

[00:06:58] and then you have your donor community where you're trying to say I know there are so many good

[00:07:03] causes but can you see it in your heart to help support our cause because we're a really good one

[00:07:07] too. There's a lot of gratitude but there's also just a lot of work and there are you know staff

[00:07:13] members that need to be paid and need to take vacation time and so it very quickly becomes a full

[00:07:19] time job that really seeps into every moment of your day and because there's so much passion

[00:07:27] behind it you know I find myself willingly you know doing projects on weekends and evenings even

[00:07:32] though I'm also doing it by day so it's been eye opening to see how much work there is to do

[00:07:38] and how much time that work takes to do well. Yeah that's why I let Kim go first because she says

[00:07:43] everything so well I mean just just to simplify that like intellectually this is a full time job

[00:07:51] like as Kim says and you have to remember the easy stuff the lab experiments, the designing tools,

[00:07:58] the basic experiments, the scientists and the companies know how to do that. The scientists

[00:08:03] and the companies call us with the things that they're stuck on right so we are paying ourselves

[00:08:08] nothing working on a shoestring and multi-million dollar companies and well funded labs at prestigious

[00:08:13] universities call us when they when they get stuck. Just think about that for a second

[00:08:18] and our job is to connect the dots and say well have you thought about this and have you talked

[00:08:22] to so and so and so and and to really fill in those gaps right in rare disease there's not enough

[00:08:27] resources so the gaps are huge and the patient advocacy group the way I increasingly think about it

[00:08:32] is we are we just sort of are the glue that goes in and fills all those gaps and stretches

[00:08:36] ourselves out to connect the clinicians and the researchers the industry the funders the investors

[00:08:42] we have to talk to all of these constituencies and and get them to talk to us and that's just half

[00:08:47] of it because the other half is the you know Kim said passion and I say heart like you know

[00:08:54] we have our own sick kids we have our own families and we have to to be effective in our job

[00:08:59] and to speak credibly for our community be a connect with that community which means we can go

[00:09:04] from a call with an investor in the morning who's like explaining to me why I would invest in

[00:09:09] this thing up one company to allow who's like I can't keep working unless you give me $150,000

[00:09:15] to a mom who's just diagnosed and is freaking out to a board member who wants to know why their

[00:09:20] project isn't done yet. That can be one morning and then you turn around and your kids screaming

[00:09:26] and you're like I'm doing all this work to help my kid but I'm right now my kid just

[00:09:30] poured a bottle of ketchup all over the floor did something else insane because I wasn't

[00:09:34] paying enough attention to them there are moments when I'm just like oh am I doing am I really

[00:09:41] doing this the best thing for my kid right now. And you go from this very heavy intellectual endeavor

[00:09:48] to a real existential moment of am I a good parent or spouse or am I taking care of myself such

[00:09:53] that I'm going to last long enough to see any of this work through and it's just the struggle is

[00:10:00] is intense sometimes. Mike you just said so many things there that we could put pins in

[00:10:06] and thank you for that visual of the glue I think that's really helpful but yeah even down to the

[00:10:11] to the basics right of like the daily realities that we're all living and that you're feeling on top

[00:10:17] of kind of holding all these planets in the air. I wonder if both of you can maybe expand a little bit

[00:10:22] on some of the unseen challenges and like the behind-the-scenes challenges that you're facing and

[00:10:27] your advocacy work that most people just really aren't aware of. Sure I mean I think Mike explained

[00:10:33] it so well there's that guilt pang of if you're if you're fighting this battle for your entire

[00:10:39] community you know are you handling the home front you know well enough. I think people assume

[00:10:45] that I have this like extra bandwidth then they do at home right but really like what I'm facing

[00:10:51] at home is very similar to Wittleball a lot a lot of our families are facing at home and that

[00:10:54] is a lot and so trying to you know tell them I will try to lead our organization and be you know

[00:11:03] an upbeat fearless leader but I'm also you know facing the same things each and every one of you are

[00:11:09] like I am one of you and I think that sometimes that gets forgotten by our community because we all

[00:11:17] so need someone who is like fighting for us and I am so honored to be one of the people fighting

[00:11:22] for our community but it is still a challenge at home and it's a changing challenge we're all kind

[00:11:29] of in our own place on this journey and for me you know that has been an evolving place I now have

[00:11:34] a daughter who is about to turn 20 so really we're in this transition to adulthood but I very much

[00:11:40] remember what it was like in those baby phases and so it's been a never ending education but it's

[00:11:46] also had its own you know trials and tribulations every step along the way I would add to that

[00:11:52] so everything I agree 100% with everything Kim said I think people somehow think people we know

[00:11:57] we live in a culture of superheroes right so people like oh you're a superhero so you can do this

[00:12:01] it's like actually no I'm not a superhero I'm a dad and my kid gets mad at me and my other kid is

[00:12:08] mad that his kid his brother is sick and there are days when my resources are just low and yet I feel

[00:12:15] when you get that random message from a parent who is facing some new crisis like reflexively they

[00:12:23] reach out sometimes to me because I'm the leader of our organization and they say how do I deal with

[00:12:29] this and I have to respond to that and I have to give them my attention and hopefully I can connect

[00:12:36] them with someone else in the community who can help them because I've got to go to a meeting or

[00:12:40] whatever it is I'm doing the emotional demands of this role just grow as the community grows

[00:12:46] and the thing I think about a lot also is there are times when I come out of calls with parents

[00:12:51] and I'm just like wow I really need to let other people have these calls because you're sitting

[00:12:56] there feeling what these newly diagnosed families are feeling or even not newly diagnosed families

[00:13:02] who are going through some kind of crisis and you have to sort of support them and then walk away

[00:13:08] and take a breath and push forward and I'll give you a very concrete example like right now we are

[00:13:14] we are having getting ready for our conference and we're scheduling family day and there was a bit

[00:13:20] of a discussion around okay Mike we need to have the family they just be family support we need to

[00:13:26] make sure all these families connect with each other and talk to each other and blah blah blah blah

[00:13:30] and I'm like okay we can do that and we also need to talk to them about registries and clinical trial

[00:13:36] readiness and you know what what studies they should sign up for and people were like oh but we're

[00:13:40] always talking about that and I'm like yeah but we're always talking about that because the only way out

[00:13:45] of this is better medicine right like there are there's so many families experiencing so much hurt

[00:13:51] and those was just a diagnosed ones there's thousands more of undiagnosed families who are going through

[00:13:56] these same trials and tribulations and our focus must be on better medicines and it was you know people

[00:14:03] are very passionately telling me no Mike we should just do family support and I was like that

[00:14:08] doesn't get us over the finish line and it was it was a it was a really hard discussion and it is

[00:14:14] frankly still ongoing I don't know I just we get pulled in so many directions and I feel like

[00:14:21] our communities don't really understand what we're doing on the industry side and the industry

[00:14:26] side definitely has not fully internalized our roles because I was at a conference last week and

[00:14:32] someone's like so you want a patient to have this group and just very nice person they say

[00:14:36] so what do you actually do like they just couldn't imagine that there was enough work to fill a day

[00:14:42] and that that that's when I just I think Fee I called you about this episode I was like oh I

[00:14:48] I do a lot it's just so hilarious I mean really I can't even I can imagine your face in that moment

[00:14:55] it was probably half open and you're probably doing your blinking thing really fast

[00:15:01] like I don't know where to begin with that one I don't know Kim what do you think

[00:15:07] yeah Kim what about the emotional toll that this work takes on you personally and what is

[00:15:12] maybe not visible to others yeah absolutely I mean we're developing drugs that are cutting edge

[00:15:18] so for you know our community we're developing a gene therapy drug and it's a drug that our

[00:15:25] community has a ton of hope invested in right like this is our clearest path towards changing the

[00:15:31] trajectory of this horrible horrible disease but it also comes with risks because it is cutting edge

[00:15:37] because we are among the first you know doing things like this and you know my wee includes Mike

[00:15:42] and all the other patient advocates that are you know out there listening and you happy I mean

[00:15:46] all of us we're really at the forefront I think of some of these precision therapies and that is

[00:15:50] exciting but it's also scary and I think for me it's a lot about balancing that risk versus reward

[00:15:56] and that for me is an ever changing line this summer we had three little girls pass away in just

[00:16:03] a few weeks span they were one five and ten I mean they were just babies and you know I think I've

[00:16:08] been so scared of getting this drug exactly right that I sometimes forget that there is an immense

[00:16:15] urgency like our kids are literally dying and so it's really balancing out you know that that

[00:16:21] pacing that urgency with making sure that things you know are done well and that we're not

[00:16:27] skipping corners and that to me is a real struggle I legitimately love these children in our community

[00:16:34] even if I don't know them well like I feel like they're my nieces or nephews in some crazy way I know

[00:16:40] that makes me sound like a crazy person but it really is an experience where you know our individual

[00:16:45] identities get changed by this diagnosis and we are put in contact with families that are experiencing

[00:16:51] a journey that that very few others you know experience in a similar way I totally feel that I'm

[00:16:57] so sorry about the last in your community Kim and I think so many of us feel like all of these

[00:17:02] children are our children in one way or another right and I think that's what makes our community so

[00:17:07] what about some decisions that you've had to make or that you know your friends have had to make

[00:17:11] what are some of those tough decisions as a leader in your foundation that you've had to make

[00:17:15] that again people may not realize the toll that it takes on you or the tough decisions that you

[00:17:21] had to balance between your family your foundation and others families I think for me one of the

[00:17:25] tough decisions happened a few years ago was this shift from being all volunteer and having every

[00:17:31] penny go towards research and other people's labs to instead having like a full-time scientific

[00:17:38] director at test research foundation and having you know inside staff and becoming a more

[00:17:43] professional organization but that also meant changing how we had traditionally funded things and

[00:17:50] you know for us we have been very lucky in the sense that we've been able to get grants that

[00:17:55] cover that internal capacity through chance augur initiative and PCORI but that for me was a big

[00:18:01] change mentally it was a big change in terms of the messaging I think to our board of directors

[00:18:05] and to our families and even to other researchers but it's been the best decision we ever made like

[00:18:11] it really has helped us continue to run this marathon at a sprinter's pace. I want to I want

[00:18:18] to answer your question Fee about tough decisions but before I do that I want to I want to just pick

[00:18:21] up on something Kim said in her last answer that I think was really perfect like when you have a rare

[00:18:30] disease kid you start to understand you start to think that nobody else gets your kid but you

[00:18:36] and then you meet other parents and you realize oh thank god someone else gets my kid.

[00:18:41] Most people who relate to that but the third step in my experience there is then you start falling

[00:18:46] in love with all of these kids and I think what I saw we had a family staying with us recently

[00:18:52] in their their child is you know twice Tony's age and this mom was sitting at our kitchen table with

[00:18:57] with my with my neurotypical son John and Tony you know landed upon John John and John cried you

[00:19:03] know I'm like whatever I see this movie every 12 hours and this mom who has taught me a lot and

[00:19:09] his dear friends started crying and I was like Monica are you okay and she's like she want my

[00:19:14] music her name and she's like I just it just brought me back to when my son hit my other kids

[00:19:20] and I couldn't protect them and it was almost like she had just been retraumatized but also you

[00:19:25] know her affection for Tony and John is so real that it just it was just real and I think you

[00:19:33] know that was me seeing that other parts of this community love my kids but it's also been very

[00:19:40] clear to me lately in a few calls when I hear about bad and unfortunate things that are happening

[00:19:45] to us in Gapiens that it just hits me hard and I have to figure out how to hear these stories

[00:19:52] and support these families and not need to you know go to my safe space and cuddle up with my

[00:19:57] teddy bear or something because sometimes I hang out the phone with these families and I just

[00:20:01] need to take a deep deep breath because we I care so much about these kids and I know that people

[00:20:10] in my community care about my kids thank god but it's that's a really big part of this like I think

[00:20:15] the emotional toll goes up over time and then as far as tough decisions I think I'm right behind

[00:20:23] Kim on this one I'm I think I'm we have gone with a certain model for the past five years

[00:20:30] and I am starting to really ask myself the sustainability question because I can't work hard enough

[00:20:37] with my you know one and a half staff people to keep up with the pace and it's not fair to my

[00:20:44] family for me to just work 60 hours a week I need to find a different model and so you know I'm

[00:20:51] sort of trying to figure out how to take a train that is rapidly accelerating and kind of rebuild it

[00:21:01] and it's that's the thing I'm getting stuck on right now yeah um I'm feeling you from as you

[00:21:07] getting punched last night and having this conversation with her about it to the point about

[00:21:11] the organizations setting it up more of like a professional organization or a business model where

[00:21:16] there are employees and people are accountable and you're not just relying on everyone's best efforts

[00:21:23] and showing up because they care but making it more of a model I think it's definitely becoming

[00:21:30] more accepted right but do you feel like there's still a little shame or some apprehension by

[00:21:36] org leaders to not go into that model for one reason or another yes I think that non-profits

[00:21:44] are expected to have this incredibly high percentage of their funding go towards their program and

[00:21:52] I think that there is this thought that if you have someone helping with development or

[00:21:58] you know administration or science that somehow that is a misuse of funds you're going to suddenly

[00:22:03] dip below that like 90 percent is going towards our mission but I would really argue otherwise

[00:22:09] like I would argue that the salary that we pay to a scientific director goes a lot farther than giving

[00:22:17] out like one additional research grant in another lab and I think even if we pull the labs that we

[00:22:23] you know are funding or work with I think they would say the same at this point so I hope we can

[00:22:28] get to a point where donors and you know families and boards and everyone can understand that

[00:22:35] you have to that your money is actually well spent by having a you know a scrappy dedicated small

[00:22:43] team I'm not saying we're all gonna you know balloon where every penny goes to staffing but I think

[00:22:47] having a small team really is a smart financial move I totally agree 100 percent agree I think

[00:22:56] you know because at the end of the day your volunteers are family members and these family members have

[00:23:01] sick kids or you're going to extended family and uncles grandparents and that's great but you know

[00:23:06] for you there comes a point where people go from doing one thing to doing a few things to just

[00:23:12] getting really in it and at that point you you're dependent on them and if they say wait I got

[00:23:16] to step out I've had a couple people with big hearts and lots of skills come in get into it keep

[00:23:22] getting into it and then after six or 12 months you're like whoa I need to step back and I get that

[00:23:27] and I respect it I can't do it myself I don't feel like I have permission to do it myself but I

[00:23:31] understand how they need to but then they step back and I have this gaping hole in my organization

[00:23:36] and so we are gradually starting to identify and fill roles but I think there's a big conversation

[00:23:43] with boards and the direct answer to your question Fee is you know it's been nice to be able to

[00:23:47] say to donors for the past five years every penny you give us goes to research we are in all

[00:23:52] volunteer organization and I pay overheads and we may keep doing that for a little while but I

[00:23:57] think the ethos needs to change because when I started this I really thought this is a key step

[00:24:03] for me when I started this I really thought we just need to put more money into the science and then

[00:24:07] it'll work and I missed two big things number one thing I missed is actually no we need a patient

[00:24:14] advocacy group we we are not just a fundraiser we are a connector we are a bridge between industry

[00:24:19] and clinicians and researchers and investors and what I missed is that the science doesn't matter if

[00:24:26] you can't get it to the patient and you get it to the patient through the clinic and if you think

[00:24:31] funding science is expensive try funding clinical work right that's the punch line like the clinical

[00:24:37] stuff is where it gets really expensive and for that you need a larger functioning organization

[00:24:45] and you need partnerships to help share the burden and you can't do that with an all volunteer crew

[00:24:52] so you know I think we started this podcast talking about wow I didn't understand how big this job was

[00:24:57] but it that translates directly into I didn't understand how big our work is as patient advocacy

[00:25:06] groups for rare diseases and that just goes into everything right yeah and I think to piggyback on

[00:25:12] that like having we still need our volunteers for all the volunteers out there please keep coming to

[00:25:17] us and volunteering but having a staff that can help organizers volunteers and assign them appropriate

[00:25:22] tasks like we we always said boy it'd be so fun to have interns but until we had a scientific

[00:25:27] director who could help manage our internship program we really didn't have the bandwidth to even

[00:25:32] figure out how to utilize those types of volunteers so it really becomes this like rich ecosystem

[00:25:37] of you know paid people volunteer people it's it's really heartwarming to see it all gel

[00:25:44] but I do think it needs someone who is coming to work and being compensated you know to help

[00:25:51] lead those types of efforts yeah absolutely both of you kind of touched on guilt a little bit

[00:25:58] using this as your full-time job basically working 60 hours a week maybe taking away time from

[00:26:03] your own family and your own personal personal sacrifices and I wonder if anything is at top of

[00:26:08] mind or if there's a personal story that you have of a sacrifice that you had to make in order to

[00:26:14] keep your foundations running I mean I think the sacrifices are daily so I I have so much guilt

[00:26:21] maternal guilt any kind of guilt you want I've got it in there somewhere I'm I think that for me

[00:26:26] I have to remember that I chose to step up and be the patient advocate but like my other you know

[00:26:34] my teenage daughters they didn't choose to even my husband didn't necessarily choose to right like

[00:26:38] I've kind of brought my whole family into this and they've been amazing they have truly supported me

[00:26:42] and supported our you know broader organization in so many ways and for so long now almost a decade

[00:26:49] now so I have nothing but gratitude for them but I do have to remember like this is the path I chose

[00:26:54] so you know I can't expect that they are going to travel exactly my path and I have to remember

[00:27:00] that I am choosing to have you know my children who have this disorder test on Colton they

[00:27:07] they have become the face of this disease to some extent especially in the early years when there

[00:27:12] weren't that many patients diagnosed but I have to ask my two other girls whether they want to be

[00:27:18] you know the face of our organization and I have to respect it if they say no I don't want to be

[00:27:22] in your Instagram post today or you know something similar so I think I have guilt over trying to do

[00:27:30] right by everyone that I love and I'm lucky enough to love really a lot of people but that comes with

[00:27:36] with a fair amount of guilt just the beginning of Kim's answer like the sacrifices are daily like

[00:27:41] this this just slowly creeps in and takes over your life and for me I mean like Kim you know I have

[00:27:47] very supportive spouse who's very much behind this organization and help you know encourage

[00:27:53] and his current courage may be separate away but I think for the decisions I make around John

[00:27:58] and how I feel like I'm constantly not being with John enough and outsourcing his care to

[00:28:03] more and more people is where I just I am really feeling the challenge right now and I was just

[00:28:10] thinking as you were talking Kim when you said a decade like it was it was five years ago when we

[00:28:14] met so you know when we when I came to you and asked you and starting SRF like you were kind of

[00:28:21] where I am now it's sort of weird to think about but it's not a specific decision it's an endless

[00:28:27] list of decisions that touch everything it's like how we vacation like we generally hang out with

[00:28:34] other families it's my travel schedule it's so so much it's hard to say oh this was a thing I did

[00:28:41] because the work and the job continues to grow and demand more and more it sounds like both

[00:28:48] of you are kind of in a pretty profound like time of reflection which I think is really cool but I

[00:28:56] wonder looking back on your five and your ten-year journey that what are some of those key lessons

[00:29:01] that you've learned that you wish you knew at the beginning and especially what would you bestow

[00:29:06] on a new family entering our space I think that for new families don't reinvent the wheel where you

[00:29:12] don't have to I think a lot of us start our own organizations because we're trying to rally our

[00:29:19] communities around a very specific cause often a genetic disorder but look for those opportunities

[00:29:25] to collaborate to learn from you know other groups whether you make the same decisions as them

[00:29:30] is up to you but at least you know take the time to try to not have to reinvent the wheel I know that

[00:29:35] at this point whenever we make a decision I do like a quick what I consider like a key opinion leader

[00:29:41] analysis by just reaching out to some other you know patient advocacy leaders and saying hey what

[00:29:46] do you do in this problem and that is so helpful I don't know Mike what words of wisdom do you have

[00:29:51] for for newbies the thing I think about hearing you and I talk right now Kim is I think about like

[00:29:56] pat furlong and marion mask is right like the real giants who are so far ahead of us and every time

[00:30:02] my hair pat furlong talk including on your podcast fe like I'm just like wow this lady has let's

[00:30:10] dump so much and like I say to my families when they're diagnosed I'm like look we're in this

[00:30:17] together for the rest of our lives like you're you know our kids are you we're in the same club

[00:30:25] for the rest of this game so like really let's let's think about how we're gonna you know think

[00:30:32] about getting now that you know this diagnosis this is my little speech now the knowing diagnosis like

[00:30:37] you know reorganize your life accordingly in terms of therapies and whatever but then like

[00:30:42] you don't have to start volunteering tomorrow you can start volunteering in six months and then

[00:30:46] let's think long term and what I the single piece of advice I would give is that think long term

[00:30:53] every mom and dad is like what can I do in the next one or two years to save my baby

[00:30:58] and I was right there that started an organization I funded an ASO on day one and that ASO is

[00:31:05] sitting in a large company right now who's throwing it at mice

[00:31:08] and and I've gone from I need to secure singgap and Tony to okay if these therapies that we're investing

[00:31:15] in get into Tony's brain tomorrow which they won't he's still gonna be you know

[00:31:20] neurodiverse at best disabled more likely for the rest of his life but I still need these therapies

[00:31:27] to reduce his suffering and reduce the burden on John when I'm gone and be able to help all the kids

[00:31:34] who are diagnosed and who aren't around the world so you know the mindset you're in when

[00:31:40] you're panicking on day one is so different than the reality that is staring you in the face

[00:31:46] and we have to think long term I love what you said about the reality that you face right away

[00:31:53] in long term I want to touch on something else I'm not really sure how to ask this question but

[00:31:58] I wonder you know you talk about this empathy this extreme empathy and maybe even sort of

[00:32:05] compassion fatigue that you get as a patient advocacy organization leader because you're doing all

[00:32:09] these things and then you're also getting the calls from the family and the worryness and the new

[00:32:13] diagnoses and I wonder one should that definitely be handled in house by a specific like person or

[00:32:20] little committee so that you can focus and or if that is the case you know I know you kind of maybe

[00:32:27] did this a little backwards maybe not Mike of where you were like oh yeah we need the patient part

[00:32:32] too and then you created just the most flourishing and beautiful and empowered patient population but

[00:32:38] not every patient advocacy org has evolved like test research fund and sing up research fund

[00:32:43] and there's kind of a sticky dynamic between org leaders and patient advocates and their families

[00:32:49] how best have you found to kind of cultivate that relationship and nurture that relationship so it's

[00:32:54] not necessarily mom and dad telling you all what to do and then all of you thinking mom and dad

[00:32:58] have everything covered behind the curtain and it's all rosy for them like how do we have this sort of

[00:33:03] transparency between the org leaders and their patient group as more of a team mindset that's

[00:33:10] such a great question I think for me we were really clear about what our organization was from

[00:33:16] the beginning in the sense that we wanted to find better treatments and we were really focused

[00:33:23] on research so we didn't start out really as a patient support community I think we've been

[00:33:31] so fortunate to grow into that but we've had our support mostly as individuals so when I join a

[00:33:38] support call or when I talk to another family I feel like I'm very much there as Kim as you know a

[00:33:44] mom who has traveled down a similar path maybe has learned some things definitely has made a lot of

[00:33:50] mistakes and I'm there to share that I don't really wear my test hat in those situations because

[00:33:56] I'm not really qualified to to give you know professional advice about these hard things but we try

[00:34:02] to find the correct supports like when one of the kids in our community passes away we try to

[00:34:08] find bereavement supports if you know a family is really going through a specific struggle we try

[00:34:14] to connect them with the leaders so I definitely show up but I show up as Kim each time and I think

[00:34:19] that that has has served us well and I've certainly learned a lot and I've been so grateful to have

[00:34:24] the support of the other parents who can help me through some of these struggles as well.

[00:34:29] Yeah I mean I don't I don't touch the support calls anymore I you know I used to host like a

[00:34:34] weekly meet-up of families and now I'm really grateful that there's some other people in our

[00:34:39] community who drive that people still sometimes reach out to me or they reach out to me directly

[00:34:44] with things like you know it's amazing how much how much challenge people can pack into one

[00:34:51] text message where I just look at you know it pings and you know it's messenger it's slack or

[00:34:55] it's whatever and you look at you're like oh god and so I just try to pass those to the people in my

[00:35:02] team who I'm so grateful to that want to take that on but I think the question you really ask

[00:35:08] Kathy is like the way I think the way I think about it is how do you balance explaining to everyone

[00:35:13] what's going on versus this very knee jerk temptation to be like would you please just trust me

[00:35:19] on this one right and that goes over well almost never right you're like you know like I'm like

[00:35:27] we need to have these things on the agenda but this wasn't the agenda that we brainstormed

[00:35:31] yeah but it really don't want to go into like the three-hour discussion about why I think this is

[00:35:35] a essential component it's tough I mean it's part of this is part of the struggle and it's part

[00:35:40] of the as the organization grows and as the disease becomes more ammeshed in the academy and

[00:35:47] industry with the partners like the level of nuance and sophistication goes up accordingly right

[00:35:53] and then when you're having those conversations the challenge is how do you take an empowered

[00:35:59] community and invite them to keep going right okay great now your volunteer group leader okay please

[00:36:05] go to this advocacy training or please come to this meeting with me and it's not going to make sense

[00:36:09] for the first few meetings but eventually you'll start to you'll start to figure this out like

[00:36:15] this is like the most hectic slow-motion movie I've ever seen I feel like I'm constantly

[00:36:22] running around and responding to something that's urgent but in actuality I've been at this for

[00:36:27] five years and I do not have a new drug for a kid yet like what the I just kills me and yet I

[00:36:34] still go to like rent meetings and ELC meetings and combine brain meetings and epilepsy benchmark

[00:36:39] committee meetings and because they all feel important then there's all these important initiatives

[00:36:44] are going to really result in something and some publication in two to three years

[00:36:47] and it's just like gosh you know I think part of the emotional and emotional the intellectual

[00:36:53] challenges like what are the things that I really need to focus on like what's the priority

[00:36:58] and what do I have to let go or delegate and if I delegate it am I okay if no one picks it up

[00:37:04] because that's the point I'm at right now like there's just three days of work to do every single day

[00:37:11] and I've got to decide what's urgent what's important and what can I just be like sorry we missed it.

[00:37:16] Something ELT said that was really important in their mic was you can understand it if you keep

[00:37:22] showing up and I think that's something that we hear from people all the time right it's one of

[00:37:27] the quips that are here of like oh I don't get that science part or oh I don't get that this part

[00:37:31] do you if you keep showing up and if you keep listening and if you keep asking questions and if you

[00:37:36] keep maybe just being open to intrigue you're gonna eventually understand it and you're going to

[00:37:41] be able to contribute somewhere. I completely agree I mean so many of us come into this space

[00:37:46] without a scientific or medical background and I really do think that there are important

[00:37:54] pieces that can be learned instead of you know knowing them heading in and I would actually say

[00:37:59] that some of the science is some of the stuff that you can learn along the way I know that sounds

[00:38:03] crazy but I do think that one of the things that Mike touched on with some of these consortia

[00:38:09] that were a part of or some of these larger projects and I think the other part of that is attending

[00:38:15] a lot of meetings that I guess help us with business development help us see like oh this technology

[00:38:23] is appropriate for our disease versus this technology nope that's not gonna work for us you know we

[00:38:28] each are there to use our to view whatever is happening through the lens of our disease and I think

[00:38:36] that is a really important piece that we're not just champion our causes but we're going out

[00:38:42] and we're seeing okay here's where the science is how do we catch our disease up to science

[00:38:48] and make sure that we don't get left behind as you know as these treatments move forward.

[00:38:53] You mentioned the Queen of the Land Pat for a long and I wonder how do the both of you see

[00:38:59] the landscape from how much you've contributed in your disease groups like how is rare disease going

[00:39:07] to evolve from your contributions do you think do you hope. I think it depends sometimes on the

[00:39:14] incidence and prevalence of the disorder so ours is an ultra rare disorder so I think it would have

[00:39:19] been easy to leave it behind and forget about it and you know because of that I think that we've

[00:39:24] you know had the privilege to really drive the research not just organize the patient community.

[00:39:30] Mike may have a slightly different experience of serving more I think in his last podcast with

[00:39:36] you after he said that they were the lighthouse and I loved that analogy but I don't know Mike what do

[00:39:39] you think what has your experience been. I think you know just like him has driven the research because

[00:39:46] of the very very small incidence and prevalence in her disease we have the chance to bang the drum

[00:39:53] on the undiagnosed rate there's a lot of and I won't give the speech right now but there's a lot

[00:39:59] of reasons to believe that there's a lot of syngapiens out there and if you know anything about our

[00:40:04] clinical presentation you understand that it makes sense that many of them have not been diagnosed

[00:40:08] or don't get diagnosed for too long so that message we have been able to champion

[00:40:14] and I think we have and I ask industry this all the time. I'm like am I wasting my time like is

[00:40:20] this a vanity project like am I making a difference and the industry people a number of people

[00:40:24] have said to me there's no they say we would not be working on this gene if we didn't think there

[00:40:28] was a functioning patient efficacy group to engage with because at the end of the day if you have

[00:40:33] a great therapy and you have preclinical models but you can't find and communicate with patients

[00:40:39] you don't have a product one of the things I keep saying to people like having a functioning

[00:40:43] respectable effective patient efficacy group is any sensious it's it's it's necessary but not

[00:40:49] sufficient it's an essential component of getting a therapy for a drug these biotechs which are

[00:40:55] risking millions and you know CEOs are risking their careers to to work on our drugs they need

[00:40:59] to know there's a patient efficacy group to work with so that they can not just find patients

[00:41:05] but also learn from them because the the literature is by definition you know years too old and

[00:41:11] there's a lot more patients now we know a lot more about the disease and so I think one of the

[00:41:15] contributions of SRF will be that we have helped puts helped keep syn gap on the map and we have

[00:41:22] given a lot of people the comfort they need to continue working on it I have 20 different

[00:41:26] grants in flight right now that's 20 different labs that are working on syn gap with our support

[00:41:31] right so we don't know which of those post-docs will go on and what what are those things

[00:41:35] or result in therapies but that's a heck of a lot of work and I think we have also just as Kim

[00:41:41] very graciously and kindly you know taught me a lot five years ago and keep schooling me on a regular

[00:41:46] basis you know I get a lot of phone calls and I give people encouragement and I tell them these are

[00:41:52] the dumb things I've done these are the smart things I've done and how can I help because the other thing

[00:41:58] Kim just said that's exactly right is we're not just there as a sales marketing team like we are

[00:42:02] asking the question does this make sense for a neuro hapline sufficiency with a broad phenotype

[00:42:07] spectrum like we are we are we are testing because everybody who sends you a proposal to get a postdoc

[00:42:13] for two years to work on their technology will tell you how their technology will help your kids

[00:42:18] but you've got to be discerning and go to scientists and others and say does this make sense should

[00:42:22] this be one of my top three or is this person just looking for you know a warm body in their lab

[00:42:27] and this happens so but I think the real contribution of SRF is a we've helped others

[00:42:34] b we've been radically transparent or I try to be with my podcast and and really just let people see

[00:42:40] everything we're doing the other thing who said f e that got me going was the future of our disease

[00:42:46] like I am amazed at how many people how often I have this phone call with two young driven smart

[00:42:53] parents with a very sick kid with a disease no one's ever heard of because there's only you know

[00:42:58] pick some double digit number patients in the world even if they have the money which they don't all

[00:43:04] there aren't right now enough labs to do this the old-fashioned way right go find a lab have

[00:43:10] them work on your one gene get a therapy blah blah blah like we need platforms we need things

[00:43:15] that scale who there are so many rare diseases epilepsy autism ideas all getting fragmented into

[00:43:21] all these little monogenic causes and soon it'll be polygenic how the how are we all going to do

[00:43:27] it we're not going to go fight over the same 25 scientists that doesn't make sense so I think you

[00:43:33] know SRF has hopefully helped a few people and I believe we have kept syn gap on people's radar

[00:43:40] and given people the comfort to do it and now I think we're gonna keep pushing and I'm really

[00:43:46] fascinated by the future of this space because the change there's the change is radical and it's

[00:43:53] ongoing and then when people look at me and say well Mike how do we not have a five-year plan I

[00:43:57] just laugh at them I'm like dude the world's changed three times in six months if I started

[00:44:04] writing a five-year plan it would be wrong be it would be outdated when I finished it like

[00:44:08] I'm working on a one-year cycle here and I don't really don't think people understand that

[00:44:12] because you've really got to be paying attention to understand how quickly things are happening

[00:44:17] yeah Kim do you have anything to add on to that about the future I am like a hopeless

[00:44:24] optimist I think the future will bring great things like I agree with Mike like it's as frustrating

[00:44:29] as it is that we have that we don't have treatments for our kids and for our communities yet

[00:44:36] like I really do think that we are making progress and I can see the return on investment

[00:44:42] for our disease in terms of giving out seed funding and sort of fertilizing the field and now

[00:44:47] watching it grow into these beautiful networks of researchers and I remember the initial list of

[00:44:53] questions that we you know had I mean for our family that had a 10-year diagnostic honestly the

[00:44:58] question was like what the heck is causing you know this horrible disease in my daughter right

[00:45:04] and now we've moved you know all the way forward to like questions like what is our timeline for

[00:45:10] getting this treatment into clinical trials so that is exciting it is never fast enough for the

[00:45:16] families affected but I think that there will be true improvements it might not be secure with

[00:45:23] a capital C but I think there will be solid treatments so that a child goes to the doctor gets

[00:45:27] diagnosed with one of these rare disorders and there is an actual plan in place instead of the

[00:45:32] messaging that I'm so sorry nothing exists that will help your child go home and love him or her

[00:45:37] while they're still here like that is what we're changing boom all right you two what message do

[00:45:43] you have for fellow foundation leaders and advocates who are struggling with this dual role

[00:45:50] go get a cup of coffee maybe a glass of wine too and play on a nap at some point it's gonna be

[00:45:57] an exciting ride and you're gonna meet the best people that you've ever met in your whole life

[00:46:03] and it's going to be exhausting you're gonna have down moments like Mike and I are both I think

[00:46:09] shared our vulnerabilities and our exhaustion but then you're gonna rally and you're gonna rally

[00:46:14] because the people around you will help you rally and you're gonna do great things yeah and

[00:46:19] I would say you know at the beginning you're really frantic and you're looking around and you're

[00:46:23] wanting to talk to you and you're trying to figure out what to do and you have said this energy that

[00:46:27] you're missing something and then at some point that that turns into oh my gosh my calendar is a

[00:46:34] brick wall and I don't have time and it's it's 2 p.m. and I haven't had breakfast yet like what's

[00:46:38] going on and so I would just say you know protect your time like focus on what really matters and

[00:46:44] and what really matters is use your family and your health and and then the work of the foundation will

[00:46:50] evolve and and and just just get out of panic mode and recognize you're in this for life

[00:46:57] and plan your time accordingly because that is that is the I have gone like a man on fire for five

[00:47:03] years and I need and psych kim said you know I need my glasses of I need my coffee I need my milk

[00:47:10] and cookies with my sons I need my glass of wine occasionally and I need to manage my time

[00:47:17] differently going forward because I'm never gonna stop working on singap one and I want to

[00:47:23] ensure that the future comes as fast as possible but I cannot do this with my hair on fire

[00:47:29] for another five years my can Kim thank you so much for your willingness to be so open and

[00:47:35] vulnerable I really believe that you're honesty in sharing this stuff and all of these challenges

[00:47:40] that might not be seen all the time or talked about all the time I think it's really incredibly brave

[00:47:44] and I'm really appreciative of you and I know so many listening will be also and I know what an

[00:47:50] impact you have had and will have and you're both just so special to me and our community so thanks

[00:47:57] for being my guest today and I love you both so much I'd be too happy thank you so much same here

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[00:48:38] but if you need a little pick me up for it's got you