A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari

[00:00:03] [SPEAKER_02] I'm Effie Parks. Welcome to Once Upon A Gene, the podcast. This is a place I created for us to connect and share the stories of our not-so-typical lives. Raising kids who are born with rare genetic syndromes and other types of disabilities can feel pretty isolating. What I know for sure is that when we can hear the triumphs and challenges from others who get it, we can find a lot more laughter, a lot more hope, and feel a lot less alone.

[00:00:31] [SPEAKER_02] I believe there are some magical healing powers that can happen for all of us through sharing our stories, and I'll take all the help I can get.

[00:00:43] [SPEAKER_00] Once Upon A Gene is proud to be part of Bloodstream Media. Living in a family affected by rare and chronic illness can be isolating, and sometimes the best medicine is connecting to the voices of people who share your experience. This is why Bloodstream Media produces podcasts, blogs, and other forms of content for patients, families, and clinicians impacted by rare and chronic diseases. Visit BloodstreamMedia.com to learn more.

[00:01:08] [SPEAKER_02] Hello friends, welcome back to Once Upon A Gene. I'm your host Effie Parks and I'm so happy that you're here spending some time with me today. Happy New Year still. We're halfway through it. I hope you're still pumped. I hope you have some energy. I hope that you're still chipping away at anything that you're hoping to improve or let go of.

[00:01:26] [SPEAKER_02] Once Upon A Gene Therapy walking club is lit. I highly recommend joining it. It's a beautiful, vibrant community already. We encourage each other. We chat. We share resources. We all go on a walk every single day if we can.

[00:01:39] [SPEAKER_02] And we try to meet up in person with people who are local to us and actually see people in real life on the weekends. It's epic. And there are walks from Seattle all the way to Switzerland. So please join it. If you want some more information on it, tune into this year's first episode, episode 213, to learn more about it. Okay?

[00:01:56] [SPEAKER_02] So back on episode 198, we had the beautiful and kind and super stylish Issa on the show talking about her beautiful daughter Valerie Marie. And she touched on the fact that they donated Valerie Marie's brain to research for Ring 14 and that this continued legacy of hers, it's going to impact the community in so many ways and it's going to inform research strategies.

[00:02:19] [SPEAKER_02] And she touched a little bit on the importance of having someone who knew what to do instead of her having to make that decision like in the thick of it. So I've been thinking about it ever since and I was like, we need to talk about that. So I have someone on the show today. You're going to love her. I love her so much. She's so beautiful. She's a powerhouse. She's been advocating for decades. She's also an author. She has two children's books. I think you're going to recognize them. So I'll put them in the show notes for links to them on Amazon.

[00:02:48] [SPEAKER_02] But please, if you have a local bookstore, ask them to order them for you and support those. Those are great inclusive kids books. Let's see. She's a mom. She's a powerhouse. She has three kids. Nick and Gina are two kids who passed away from crabby. And one of her daughters, she went through all the motions to donate tissue and brain. And she just realized how important it was to have all of the pieces in place and to really help walk families through that. So now that's what she does.

[00:03:16] [SPEAKER_02] She's going to be a go-to for that. And she's going to tell us all about it today, along with her personal story. It's so near and dear and close to her heart. I can still tell. And it was just beautiful to have a conversation with her. And I think you're really going to enjoy it. So you're going to learn a lot today. And it's going to give you a lot to think about. And something else I love about Anne is that this is so personal, right? And that's the biggest thing that she respects about it. And it's like her baby. And I appreciate that so much.

[00:03:43] [SPEAKER_02] Please enjoy my conversation with Anne Rugari. Hi, Anne. Welcome to the podcast.

[00:03:50] [SPEAKER_01] Hi, Effie. It's great to be here.

[00:03:52] [SPEAKER_02] Yes, I'm looking forward to having this conversation. And thank you to my dear friend Gay Grossman for throwing out your name when I was talking to her about this subject. Let's kind of start a little bit about the beginning. Can you share a little bit about how you entered this rare disease world?

[00:04:07] [SPEAKER_01] Yeah, thanks, Effie. I'll try not to get emotional because as a mother, when you talk about your children and what or your loved ones that have gone through a rare disease, you know, it's always a little emotional. So sometimes the questions might make my voice cliver a little bit. That just comes out of the great love. You know, grief is a great love. And it just comes out of that special place of my heart.

[00:04:31] [SPEAKER_01] But I got thrown into the rare disease space in actually 1986, when my second child had been very ill for seven months of his life and finally got a diagnosis of what's called Crabbe disease or globoid cell leukodystrophy.

[00:04:51] [SPEAKER_01] And by the time he was diagnosed at the young age of seven months, he had already really gone through a horrific seven months because Krabbe disease is a terminal disease and only is a demyelinating disease. So Nick lived one short year, died three days after his first birthday.

[00:05:12] [SPEAKER_01] And back in the 80s, 1986, at his diagnosis, I was told that I'd never see another child with Crabbe disease. It's so rare, there'd probably never be any research or treatment or cure. And maybe in my lifetime, I would perhaps meet another family. And the night I buried my son, I said, I'm young. I'm in my late 20s.

[00:05:40] [SPEAKER_01] I can't believe that I'll never hear of this again. And I just kind of asked God what he wanted me to do with the gift of life and love that Nick had brought our family. So kind of fast forward, I already had a three-year-old son who was not affected. And my husband and I had decided we probably wouldn't have any more children since it was a rare disease. And however, that wasn't the case or the plan.

[00:06:10] [SPEAKER_01] So in 1999, so fast forward 13 years, I was pregnant. And we did not want to do testing. That was just a personal choice of in utero testing. So what we decided is we would test our newborn baby when the baby was born. So Gina was born December 23, 1999. And we were able to test her for Crab A disease.

[00:06:39] [SPEAKER_01] And, you know, we were confident that, you know, each pregnancy has a one in four chance of the child being affected with Krabbe disease. So we felt the odds were with us that 75% chance we wouldn't have an affected child. Unfortunately, the results came back positive for Crab A.

[00:06:58] [SPEAKER_01] And at three and a half weeks of age, Gina was the fourth newborn in the world to receive an umbilical cord blood transplant to replace and give her the, not replace, I'm sorry, to give her the enzyme that she needed and was missing for Crab A disease. I might add that Gina was the third patient at Duke for this to be done.

[00:07:24] [SPEAKER_01] She was actually the youngest patient at the time that they ever gave chemotherapy to. She was also, they had transplanted two boys, but they were a little bit older. They were newborns, but older than Gina. Gina started her treatment at just three and a half weeks of age chemotherapy.

[00:07:41] [SPEAKER_01] And, you know, kind of fast forward a little bit, Gina did remarkably well in those first, my first year of transplant and kind of became a, you know, a pioneer, if you will. And it was being followed by many researchers and many clinicians and people at Duke and at other universities and in the research world to really understand what was happening with the transplant.

[00:08:09] [SPEAKER_01] And even though there were a couple other children who were transplanted before Gina, they weren't as receptive as working with other clinicians and researchers to help advance studies. And I knew during those first five months that I lived at Duke with Gina, because we were not from North Carolina, but I lived there with her.

[00:08:29] [SPEAKER_01] Going through the transplant, that door was opening very wide for me to maybe do some work and helping other children and other families for future treatments of this disease. And I wanted to not put Gina on display, but have an open mind on treatment could lead for future patients and their loved and families. So what happened after that is Gina thriving, was doing very well.

[00:08:59] [SPEAKER_01] She had disabilities because she did already have some, what we call demyelination prior to her transplant. So she never walked independently and some of her muscles were affected like around her voice box. And so she could speak, but it wasn't always clear to know her. And she used a power wheelchair to get around. And Gina went to school.

[00:09:24] [SPEAKER_01] She was cognitively age appropriate because we were following, you know, her cognitive development. She was a happy girl. She was a Girl Scout. And she actually lived to be 15 years old. Unfortunately, her disease started progressing around 11 years of age. There was definitely deterioration going on. And she was starting to lose motor function, both fine motor, gross motor.

[00:09:54] [SPEAKER_01] She was starting to have breathing issues, feeding issues and other challenges. And they were finding in the animal models that there might be some indication that this might be a similar situation. So in the last two years of Gina's life, and I didn't know when she was going to pass away,

[00:10:16] [SPEAKER_01] but I really started looking into the what ifs or when that time comes that she really has a special body, a special and unique brain. We really don't have many human subjects to study Krabbe disease, especially after a transplant. And started talking to some different clinicians and people at the University of Pittsburgh Medical Center,

[00:10:41] [SPEAKER_01] where Gina was being followed, because that's where her neurodevelopmental doctor was, and started talking to them about what would ever happen if we wanted to donate tissues from the brain and other parts of the body to study. And how could we know what kind of studies, as a parent, come out of that research?

[00:11:06] [SPEAKER_01] So we started a process, and we talked with the director of the Alzheimer's Bank at the University of Pittsburgh, and we were actually able to get IRB approval to start a brain and tissue bank for neurodevelopmental diseases, other leukodystrophies in May of 2015. And, you know, unbeknownst to me, Gina passed in June of 2015.

[00:11:33] [SPEAKER_01] Not unbeknownst, I didn't know that she was going to pass that soon, but we got the approval. And her brain and parts of her brain, tissues from the brain, tissues from other parts of the body were donated, and we started studying those tissues. And so that was in 2015, and we've done several publications.

[00:11:58] [SPEAKER_01] There have been other families who have donated their loved ones' brains and tissues. We have other diseases besides Crabbe disease affected tissues in the bank. And we have a number of researchers who reach out to the bank to request samples. These samples have to be translational in nature.

[00:12:24] [SPEAKER_01] They can't just be samples that are looked at just to study Crabbe disease. There has to be translational meaning that there is a potential for a treatment for what they discover. So kind of in a little capsule there, I gave you the rundown of how I got started and kind of where a little bit of where we got to developing the NDRD brain and tissue bank.

[00:12:54] [SPEAKER_02] Wow. And I'm so sorry for the loss of Nick and Gina, and I love this legacy that you've continued for them and all of these other kids. And I appreciate the quiver in your voice, and I know that so many of the families listening now understand and appreciate it also because it's so real, and it makes us all feel a little less weak when we have a quiver. So thank you for that. And I know Gina just had a birthday last week.

[00:13:18] Yeah.

[00:13:19] [SPEAKER_02] It's probably been a month in your house. This is also cool, and I kind of want to start by understanding your decision that you decided to make before Gina had passed away when maybe you might otherwise have been consumed with other types of grief or just kind of being in the thick of it. Can you walk us through the journey to the decision of donating Gina's brain and tissue, and what were maybe the emotional and practical considerations that you had to navigate, or were you sort of sure?

[00:13:45] [SPEAKER_01] You know, Evie, that's a great question because it is an emotional decision. It's a practical decision. It's a religious decision for some people. And there's a lot of different factors that play into the decision. And I will tell you that even in the two weeks preceding Gina's death, because she did get very sick and was in the hospital,

[00:14:15] [SPEAKER_01] that I was still kind of on the fence. Do I do this? Do I don't do this? At the time, I spoke to my Catholic priest, you know, to get his take on, you know, my separating something. So morally, religiously, spiritually, I wanted to make sure for me personally that I was making a sound decision.

[00:14:37] [SPEAKER_01] You know, and then the thought of Gina's tissues, you know, being in a facility. And it's not all the tissues. It's just some. It's some tissues. And just realizing that, you know, they're going to be somewhere and be looked at and studied.

[00:15:00] [SPEAKER_01] And then there was a part of me that kind of just realized that we're not going to be able to get to really find out more about this disease unless we have human samples and human tissues to study from. Because there are good animal models and research. Most recently, there is a dog model that does naturally have crab A.

[00:15:27] [SPEAKER_01] So there's been studies done on the dog model, but it's still not a human model. And we really won't be able to understand what's happening even in a transplanted or untransplanted or untreated person without studying the human tissues and samples. And, you know, it was a balancing act. And it was a decision I felt strongly about to help others.

[00:15:57] [SPEAKER_01] You know, you have to remember that I only had Nick for a year and could do nothing for him. Even at that time in 86, there wasn't even good palliative care to help him. And watching him decline, watching him being in horrific pain from nerve deterioration, muscle deterioration, his muscle spasms, not being able to eat, having seizures.

[00:16:24] [SPEAKER_01] And I think that if somehow we could find ways to treat people affected with crab A disease, that if something could come out of it, it would help maybe so many other people. And I was hoping, too, that it wouldn't be just crab A disease and it would expand to the other leukodystrophies and potentially other lysosomal storage diseases or other neurodevelopmental diseases.

[00:16:52] [SPEAKER_01] And it has done that. And some of the wonderful things that have come out of it is that when papers have been published, and there's been five papers to date that have been published on tissue samples that have come out of the DRD brain and tissue bank, that everything's de-identified for the patient. But the families that have been published on tissue, that they have been published on the DRD brain and tissue bank, that everything's de-identified for the patient.

[00:17:20] [SPEAKER_01] And that their loved ones' tissues may be used because we're not going to give out that information. We can't. We can't. It's protected. But there is a sense of relief from families.

[00:17:35] [SPEAKER_01] It helps families when they get a copy of the publication to know that their children or their loved ones' tissues are being used to help advance research and will make a difference for someone else diagnosed or affected with the disease.

[00:17:56] [SPEAKER_01] So it's been a source of comfort to a lot of families to be able to donate tissue and to know that there is research going forward on human samples.

[00:18:10] [SPEAKER_02] It's so meaningful that the information is brought back to the families. You hear that so often, not just in cases like this, but even simple clinical trials, right, where families feel abandoned and that they don't know the outcomes or any of the information and they kind of feel used. So I love that it's brought back to the families so they can know the impact that the love of their life has had on other people and helping rare diseases.

[00:18:35] [SPEAKER_02] Yeah. And I also love that you mentioned that it's only translational, right, and really, really respecting this for what it is and not just doing science to do science for science purposes, but that it's so much bigger than that.

[00:18:50] [SPEAKER_01] President These 16 You know, people donate their organs and which is a beautiful thing to do, because some of those help people that continue to live and to thrive. And a lot of times donors know who's getting those organs. But in a lot of cases, there are other brain banks.

[00:19:17] [SPEAKER_01] There's the Maryland Brain Bank, the NIH Brain Bank. And you can donate a rare disease case or tissues to that bank, but you will most likely never know how those tissues and samples are being used. And I'm not saying that's a bad thing. I'm just pausing to say that the families, our brain bank is different.

[00:19:42] [SPEAKER_01] The families feel that they still have some kind of connection in what is happening and what's going on. I mean, this was a loved one. This is somebody they expected to be around for years and years and years and be a part of your life. And knowing that their tissues are doing something worthwhile is a great comfort and does a lot of times bring peace to the family.

[00:20:09] [SPEAKER_02] Yeah. I mean, there's a whole podcast episode about that aspect of this for sure.

[00:20:14] [SPEAKER_01] I know. We can go. There's a lot of, you know, other branches that this can go on to. Sure.

[00:20:20] [SPEAKER_02] Yeah. Let's talk about early planning. And can you explain why it's so important for families to consider and perhaps even arrange brain and tissue donation well in advance, especially when their children are still alive? Yeah.

[00:20:34] [SPEAKER_01] So due to the extreme emotional nature of, especially in children, especially in young children, losing them way before anyone should have to, you know, give up a child. And it's emotionally impactful that in the moment you really don't want to be making these decisions. You can.

[00:20:59] [SPEAKER_01] I mean, I've felt that's worked with the coordination of families, you know, wanting to donate their child and loved ones' tissues. But I've done it in the heat of the moment. I've done it in advance. And I can tell you that it's less emotionally hard, if that's even the right way to say it, if the paperwork and things are done in advance.

[00:21:25] [SPEAKER_01] Because there is some coordination as to making sure there's a pathologist at the local hospital or where your child's been seen that can do the retrieval of the tissues once they have passed or within 24 hours of them passing. That's about kind of the time frame we need to collect the tissues. So one of the things that I work with the families on a case of someone that's shown interest in this is find out what hospital they're associated with.

[00:21:53] [SPEAKER_01] See if there's a pathologist that can do what we call the protocols of the different tissue samples we need specific for their disease. You know, next step is kind of actually talking with a funeral home because a lot of times if a funeral home is kind of knows in advance that they may, you know, the child may die at home.

[00:22:17] [SPEAKER_01] And the funeral home would be picking up the child and then taking it to where the retrieval is going to happen, the retrieval of the tissues. And then the funeral home would work in assisting getting the child from the facility back to the funeral home and preparing, you know, the body for, you know, the funeral or the cremation or whatever the family has chosen to do.

[00:22:40] [SPEAKER_01] So, you know, with getting some of the logistics done in advance, the transition as to when the loved one passes away, it's kind of spelled out and it's clear that it's easier to kind of manage. Doesn't mean, you know, the family always has the choice to decide even when the child passes not to donate.

[00:23:05] [SPEAKER_01] There's nothing that says you're bound to do that, even though there may be initiated paperwork and plans in place. There's no, no one's obligated. But it just, I have found that when it happens, when the, you know, maybe the child's in a hospice situation where they only have, you know, they're kind of in that last maybe 24 hours of life, you know, things are declining.

[00:23:33] [SPEAKER_01] And then we're trying to get paperwork organized and trying to make sure there's a pathologist and someone to take the body to where the retrieval is going to happen. That can get a little emotionally charged, not for me, but for the family members and maybe second guessing or, you know, really questioning are they doing the right decision or not. But we can do it both ways. It's just kind of better to have things set up.

[00:24:00] [SPEAKER_01] And it's kind of what we call just pre-planning and knowing what will happen if this is something you desire to do, the donation, that it's just kind of plan. And it's in their maybe care manual or their care booklet of here's what's going to happen when that time comes.

[00:24:21] [SPEAKER_02] Yeah. You touched a little bit on sort of the procedures and the protocols once you kind of make that decision. But what about what about the very beginning? What conversations should parents right now have with their children's medical team about brain and tissue donation? And maybe what are some of the key questions or key points? And who or where should these families maybe go to kind of peek in that door?

[00:24:45] [SPEAKER_01] Great question. So, you know, I think discussing it with their medical team, their medical providers, their primary care physicians, maybe they have caregivers in the home, nurses in the home.

[00:24:57] [SPEAKER_01] You know, anyone, you know, that is a part of the care team, even other family members, you know, other, you know, maybe your church members or your church staff, just to kind of talk to them that they're thinking about doing this and sorting out their, you know, sorting out what that would be like, you know, and how others feel about it.

[00:25:22] [SPEAKER_01] Certainly there are some fine lines that, you know, people are challenged with. And then talking with the care team. So the care team is very aware that these are probably the intentions of the family, you know, and I've worked with social workers that are assigned social worker on the case. A lot of families have a main social worker and work with them to get all the coordinating done. I've worked with the primary nurse on the case.

[00:25:51] [SPEAKER_01] I've worked with the hospital. Sometimes the loved ones are in the hospital, you know, have had a long illness where they're not going to recover and go back home. So working with the main nurse or main provider on getting that arranged, getting the, you know, all the paperwork and things arranged. The key questions would be, you know, this is something I'm considering doing. How, what are your thoughts on it?

[00:26:18] [SPEAKER_01] And is this something you can help me arrange or work with, work with me, you know, as I'm the main consultant that does the arrangement and work with me to help get this organized, get all the paperwork in place. You know, and then have the paperwork in with, you know, the care, the care manual or care papers.

[00:26:40] [SPEAKER_02] Yeah. And there couldn't be a better person to help a family along this rainbow bridge than someone like you who has lived this and who is an expert in this at this point. And I think that that's so important for families, right, to just have that support and to really know that the person alongside them knows what they're going through and can really empower them and also just make them feel so seen, right, in this decision that nobody would ever imagine they would need to make.

[00:27:10] [SPEAKER_01] It's them being heard and listening to their feelings and listening, knowing that there is someone holding their hand along the way. I had one family that, you know, her son passed away and she needed to know almost hour by hour what the steps were after he passed. Like, you know, he was, he passed at the hospital.

[00:27:37] [SPEAKER_01] So then where did his body go from the hospital room? And then what part of the hospital was it in? And then what time exactly was the retrieval of the tissues being done? And when were they going to finish? And then when, what time was the body going to go to the funeral home? I mean, she needed up-to-date information.

[00:28:02] [SPEAKER_01] So she knew exactly where her child's body was at all times and what was going on. And, you know, I stayed with her on that and had contact with the pathology team at their hospital that they worked with that he had, he had been at and just let them know, hey, I'm going to need to know every step of the way. You know, and I needed to know from the funeral home when they were picking up the body and that they needed to call me when, you know,

[00:28:31] [SPEAKER_01] the body was in the vehicle that was transporting them so I could let mom know. And it's just that safe place that you just haven't handed your child over to some over and these things are being done even and you're not there. Because as caregivers and parents, you've been with your child through everything that they've gone through in this rare disease, especially if it's a terminal disease.

[00:28:58] [SPEAKER_01] You have been there for every moment and that doesn't change when they pass. I mean, there's a lot that goes through a caregiver and parents whole, they're so traumatized by, even though they know it's a terminal illness and their child is at some time going to pass, it's, they're used to doing feeding tubes. They're used to being hands-on.

[00:29:26] [SPEAKER_01] They're at every moment, maybe suctioning, maybe, you know, feeding, maybe just all the medical interventions that happen. And then when that ceases, you know, they, some families just need to know what is happening up until, you know, the time they arrive back, the body arrives back at the funeral home. So, you know, as we expand the brain and tissue bank, we hope that there's others that can help in this guidance

[00:29:55] [SPEAKER_01] and want to help families get through this really challenging and critical and emotional times.

[00:30:03] [SPEAKER_02] It's so moving and I'm so grateful for the continuity and the comforting approach. And I imagine there's, you know, an entire spectrum of how families kind of go through that. So that's, that was a really beautiful story. Thanks for sharing that. Can we touch real quick on those five papers and the impact on research that the brain and tissue bank has contributed to, and maybe some highlights from any breakthroughs or insights from the donations?

[00:30:32] [SPEAKER_01] The paper that came out two years ago, it was on the transplanted Krabbe disease patient versus an untransplanted patient. And before that paper came out, the pathologist at the director of the Alzheimer's Bank, Dr. Julia Koffler, had done some initial research on, you know, two cases. Well, one of them was Gina's.

[00:30:59] [SPEAKER_01] I can say that because hers is the only transplanted case we have currently in the brain and tissue bank, but had done some initial pathology studies. And, you know, that's what prompted us to do a paper as quickly as possible. But what it did, and even after the paper came out, the researchers who had been studying animal models alone realized everything it found with the transplanted case,

[00:31:28] [SPEAKER_01] it was confirmed in their, it was kind of confirmed on some of their hypotheses that they were coming up with but had not published on. And I, it was explained to me by several researchers that it actually moved the research forward at least five years, where they could, you know, they had confirmations of what was happening with the enzyme, both in the central nervous system, the brain, and then the peripheral nervous system,

[00:31:56] [SPEAKER_01] which was collaborating or kind of parallel with some of the animal model studies. And what that did, once they had confirmation that there was no deterioration in the central nervous system from the transplant, it was only in the peripheral, we were able to start getting into gene therapy, looking at more gene therapy type treatments for the disease. Not that transplant's going to go away,

[00:32:23] [SPEAKER_01] but it's kind of like it needs to be a transplant and some gene therapy work. And this past year and a half, Forge Biologics actually has, along with Dr. Maria Eskilar, has been doing the transplants and gene therapy, and those kiddos are doing phenomenal. Some of them are two years out, they're meeting gross motor milestones.

[00:32:46] [SPEAKER_01] And so that's probably the most significant piece that's come out of the initial brain donation back in 2015. Right after that, we had got some other donations of brain and tissues that were patients that were not treated with a transplant. So, you know, a lot of that information was able to be flushed out quickly,

[00:33:09] [SPEAKER_01] which really advanced research and treatment that we could get into clinical trials for gene therapy much more quickly. The other papers that have come out have been translational in the fact that they have found correlation with other diseases, where there are some medications for more palliative care, and patients that have not been treated with a transplant.

[00:33:38] [SPEAKER_01] So I know that there's been some advancements with other medications to help alleviate some of the symptoms.

[00:33:46] [SPEAKER_02] Wow, that's profound. I mean...

[00:33:49] [SPEAKER_01] It is. And we have several other papers in the works. But yeah, so it takes a while for research to, you know, be produced. But it is exciting to know that it's making a difference. It's advancing research. It's getting treatments to the bedside of the patient much more quickly.

[00:34:07] [SPEAKER_02] Based on your experience, what advice would you give to the families listening who are perhaps considering making this decision?

[00:34:17] [SPEAKER_01] Pre-planning, of course. Talking, you know, you raised a great question, Effie, about talking, you know, with their medical team, with their family members, really just kind of discussing, you know, is this something they want to do? I'm always happy to have a phone call with anyone that's interested. But just start asking questions and really searching, you know, searching themselves to find out if this is something they want to do.

[00:34:47] [SPEAKER_01] And if it is, it's not difficult to get things in place for if and when that time comes. Just to kind of have an idea of how things are going to flow. I think the hardest part sometimes is really they want to want to do this. But kind of the pre-planning, I hate to say this, of the funeral even or what funeral service are you going to use or funeral home? Not so much service but home.

[00:35:17] [SPEAKER_01] So that, you know, things are kind of in place. I mean, death of a loved one, especially a very young loved one, is just very dramatic and shocking and mind-boggling. And just to have some of those things already planned. And even if they're not planning a brain and tissue donation, just maybe do some end-of-life planning.

[00:35:39] [SPEAKER_01] It just helps the transition and eases the family into that end-of-life time when it happens. And it doesn't have to be any donations, just kind of pre-planning end-of-life and really searching to see if this is something they'd like to do.

[00:36:03] [SPEAKER_02] Yeah, so much of what you've said this entire conversation, especially there at the end, reminds me of our friends over at the Courageous Parents Network. I'm not sure if you know them. Just such a hand-in-hand collaboration. I mean, they speak on this and they help kind of guide families through that ahead of time if they're open to it, to just really empower them as much as possible.

[00:36:26] [SPEAKER_02] And, yeah, it sounds like their mission aligns so much with, obviously, what you've been through and what you do as well. Well, thank you. I know that you probably didn't imagine or hope or even like for a time being that this was Gina and Nick's legacy, but it is. And it's making such a huge difference all of these years later and will continue to. How do you feel about that?

[00:36:53] [SPEAKER_01] It's bittersweet. It is very bittersweet because, you know, every single day I wish for my children to be here. You know, Nick would be, you know, in his late 30s. Gina would have been 24 last week. I often wonder what their lives would be like. I have a 40-year-old son, so I know what his life is like. But I can tell you that Gina and Nick's legacy is their own.

[00:37:18] [SPEAKER_01] I'm just using the talents I've been given to help make a difference for other people. None of us ask for these rare diseases to come into our lives. And we can choose a lot of different paths to go on when presented with these difficult challenges of the rare disease community.

[00:37:41] [SPEAKER_01] And I have just really feel blessed that I can give back on behalf of Gina and Nick to the community so that someone doesn't have to feel so alone or just to make a difference. Because you can't change what's happened. I can't change what's happened. But I can make a difference in someone else's life.

[00:38:06] [SPEAKER_01] So their love, the love that I got to experience by having Gina and Nick, pushes me to keep giving it back to others. And that's really what the legacy is. It's just about love. The greater the love, the greater the grief. But the greater the love, the more you can give back.

[00:38:27] [SPEAKER_02] You just put such a big smile on my face, Anne. You're going to the good place. Thank you for your story and your advocacy and your commitment to making that difference. You're an incredible gift to the world. And thank you for sharing it with us.

[00:38:40] [SPEAKER_01] Those are very kind words, Effie. And I do mean everything I say. And just I'm so grateful that you asked me to join your podcast and to speak about this. And I'm available. And you can feel free to give out my contact information because you have that. Feel free to give that out. And I'd be amiss if I didn't plug my two books about a girl with a rare disease. And that's Gina.

[00:39:07] [SPEAKER_01] And those are available on Amazon and also at AnneRagary.com. But feel free to put whatever contact information you have. And if anything that can do to help the community, just please feel free to reach out to me.

[00:39:22] [SPEAKER_02] Yes. And thank you for bringing up your books. I forgot about it because I was just listening so deeply to you. I see your books all the time on Instagram. And now that I know it's you and it's your face, that makes it even just so much more special. So please make sure to go into the show notes part of this episode to contact Anne and to find her books on Amazon. I'll also make sure to put them on our cool rare disease book list that we have. And yeah, if you have any questions, just let me know or let Anne know.

[00:39:49] [SPEAKER_02] And let's kind of keep this conversation going because there's so many avenues to travel as caregivers to kids with rare diseases. So thank you so much for being my guest, Anne.

[00:39:59] [SPEAKER_01] You're welcome. It's been my pleasure.

[00:40:01] [SPEAKER_02] Thank you. I hope you've been enjoying this podcast. If you like what you hear, please share this show with your people. And please make sure to rate and review it on iTunes or wherever you get your podcasts. You can also head over to Instagram, Facebook and Twitter to connect with me and stay updated on the show. If you're interested in sharing your story or if you have anything you would like to contribute, please submit it to my website at effieparks.com.

[00:40:27] [SPEAKER_02] Thank you so much for listening to the show and for supporting me along the way. I appreciate you all so much. I don't know what kind of day you're having, but if you need a little pick me up, Ford's got you.

[00:40:37] [SPEAKER_03] I don't know what kind of day you're having, but if you need a little pick me up, Ford's got you. I don't know what kind of day you're having, but I don't know what kind of day you're having, but I don't know what kind of day you're having, but I don't know what kind of day you're having, but I don't know what kind of day you're having, but I don't know what kind of day you're having. I don't know what kind of day you're having, but I don't know what kind of day you're having, but I don't know what kind of day you're having, but I don't know what kind of day you're having, but I don't know what kind of day you're having, but I don't know what kind of day you're having. I don't know what kind of day you're having, but I don't know what kind of day you're having.