Again, at the Child Neurology Foundation, we're all about connecting, and there's nothing more important to connecting, there's nothing more important to understanding experience than knowing the experience for the caregiver and the patient themselves. So we're gonna start out with a caregiver perspective, a great speaker, Tristan West, who is a parent of a medically complex child who is here to give us that information. So Tristan, welcome. I am really short, okay. Can you all see my face? I'm Tristan West and I am a mother of a child who is very medically complex and has multiple neurological conditions. I also have a daughter who is diagnosed with a genetic condition that's neurological as well. My daughter and I have epilepsy. It's been a wild journey and I came across Child Neurology Foundation in the situation that they literally described. It was probably a little over a year ago, a year and a half, and we were in a really rough patch with my son and every single night, every single night, he was up for hours in pain and it would trigger seizures and it would trigger migraines and we were not getting the help and support that we needed and nobody knew what to do. And so every single night, I sat in his bed with him and tried to comfort him, tried to talk to him on his communication device to see if he could tell me what he needed or what might help. And after weeks and weeks and weeks of this every single night, I felt like I was going to lose my mind. I felt so alone and I'm pretty active in my special needs community. And so I felt like I needed something. I needed to belong somewhere. I needed to feel heard. I needed to feel seen. And so I just started doing searches on the internet looking for exactly that and I came across the Child Neurology Foundation and became a part of their Patient Experience Bureau and it's been so wonderful to feel supported, to know that there's things out there to help families and also opportunities to learn and grow because there's a lot I still want to learn. I'm just a mom, no disclosures. We're going to talk today about some challenges that families tend to have and I really want to focus on the way that you as clinicians can help families with finding the resources to help make genetic testing affordable, accessible, understandable, and possible. This is my little guy. This is Jason. He's about to turn 12 next week and he was diagnosed with a gene mutation on a genetic mutation on gene MN1. It's on 22Q12.1 and at first it was a variant of unknown significance. So when testing was, when we did whole exome sequencing, we didn't exactly get answers. We got two, we found two variants of unknown significance and one ultimately on MN1 was found to be pathogenic and it took some time. We'll talk about that but eventually it was given a name. He has what's called MCTT syndrome, which is MN1 C-Terminal Truncation Syndrome. And interestingly enough, in some other countries in Europe, they call it Civalid Syndrome. Sometimes you doctors argue about what to call what and who gets claim over different things. It's fun. I also have a beautiful daughter named Cosette. She is six. She's our miracle that came to our family through embryo adoption. When we, after we got whole exome sequencing, it didn't give clear answers and we wanted to grow our family and an opportunity came where a friend was looking for a new home for her embryos and I had space in my womb. And so Cosette joined our family. What we didn't anticipate as we were trying to avoid the possibility that my husband Mike or myself could carry something and pass it to our children, our future children. We didn't anticipate that there's a million and a half other genetic things out there and Cosette was born with one of those things. And so she has some different challenges but she is born with high muscle tone, spasticity, muscle pain, especially in her legs. She gets regular Botox injections, is on Baclofen. And it started since birth. We did genetic testing for her through panels and came to learn that she has a mutation on a gene that's a common for hereditary spastic paraplegia. Right now it's still classified as a variant of unknown significance because there's not enough patients out there to confirm that it's pathogenic but it is on that panel and so it's what they're keeping an eye on and what we're watching for. She also at the age of two and a half started having seizures so she has epilepsy as well. As much as I wanted to avoid it, I was determined, I was bound to live in this medical world. So Jason has a very interesting and frustrating and incredible journey for his genetic odyssey, his genetic diagnosis. When he was born, we didn't know anything was wrong. We didn't know in utero and after he was born, doctors talked about how he looked different and so they started some testing and he didn't have Down syndrome or trisomy so I thought we were totally in the clear, we're good. He went home and after a little while started struggling, got sick enough that he needed to be in the hospital and then it felt like we practically lived there. As soon as he'd get released, we'd be back. So we did microarray testing, we had inpatient consults with genetics, we got a geneticist outpatient and we finally, after years, talked about doing whole exome sequencing and our insurance denied it and our geneticist decided that we just needed more time, that it wasn't worth an appeal. And so being the crazy awesome mom that I am, not just crazy but crazy awesome, I was determined to still get answers and so I was able to connect with another mom who told me about a lab that would directly do the testing with the families and that they had a financial assistance program. And so in just four months time, we had answers as far as what genetic mutations we could find through whole exome sequencing and that's when we found one of the mutations was on the gene MN1. Jason became a big brother and we had started to hear rumors that there would be a publication written about gene MN1 that the lab that did our testing had actually found some other people with this genetic mutation. My son was the first one found with this genetic mutation. Over time, we got connected with the MN1 deletion family. The MN1 deletion families, their kiddos are higher functioning. They have some different problems compared to the MN1 mutation families. However, it was really comforting to have enough crossover that it felt like we had a connection there. And then in June of 2018, what was really spectacular is that we went to a children's craniofacial family retreat that just happened to be in Salt Lake City where we lived. And while there, there was a geneticist doing some research and he was trying to develop programs that would take pictures of kids with craniofacial syndromes and that it would help determine the diagnosis based on the facial structure. So they wanted a lot of kids as part of this database. And so we went and got Jason's picture and he asked, okay, what syndrome does he have? Well, it doesn't have a name, it's just a mutation on gene MN1, nobody knows about it. And he stopped us and you would have thought he saw a ghost and he said, I discovered MN1. I wrote the first paper on MN1 deletion. And that was the paper that I had read that told me my gut, this MN1, it means something. We met the author. So what was even cooler is we had recently learned about a rare brain abnormality that our son had called rhomboencephalosynapsis. I want you all to practice saying that three times fast. Ready? Go. Rhomboencephalosynapsis, rhomboencephalosynapsis, rhomboencephalosynapsis, I win. But we learned about this condition and it was significant because ironically this geneticist had also written a paper about rhomboencephalosynapsis. There are 30 documented cases in the world and he was an author of a paper. And he happened to know that there are some doctors whose careers were spent trying to find a connection between rhomboencephalosynapsis and a craniofacial syndrome. Guess who that link was? My son. So suddenly we went from not mattering, we just didn't matter because there's so few out there, to actually mattering because this group of doctors had been seeking for patients like my son. And so as they got involved and dove into the research, things really took off because they were highly motivated, very excited. And so that's how we got an actual diagnosis. They came forward with a publication at the end of 2019 and it gave the name of MCTT syndrome. And then my husband and I are working on starting a foundation for families that have MN1 conditions. There's enough crossover, we want to include everyone. And at this point we have a Facebook support group and we have a community of 40 families and I think, ooh, that's going to require my notes. How many countries? What do we got? 40 families, 40 kids, 14 countries, five continents, and we have 15 here in the United States. So that's how far we've come in just a couple of years. Before I move to the next slide, I just wanted to point out something that really stood out to me is the different ways genetic testing was used for my son and my daughter and how we were treated differently because of each child's situation. So it took years and years for my son to get a diagnosis. It took years to get whole exome sequencing and there was this attitude of it won't change anything. There's this attitude of he's going to have to live with you and be cared for the rest of his life. What does it matter? It's not going to change anything. He's going to have a feeding tube, he's going to have oxygen, he's going to be in a wheelchair. And it was kind of just left at that. And then when I had my daughter and she was neurotypical, it was all about finding answers at the beginning. The doctors were like, let's figure it out. MRI. She's just got some high muscle tone. Let's figure it out. Let's do this genetic testing. Oh, the second we find out she's having seizures, get her right in for another MRI, and all of a sudden genetic testing's done two weeks later, we've got answers on that panel. How different that is compared to what we went through with my son. One, panels are more easily covered by insurance, but one thing I want clinicians to know is that my son matters. He may be nonverbal, but he has a voice, and he is changing the world, and he matters. His life has value, and he is going to make a difference in this world, probably more than most children that are his age. So even though he has a lot of disabilities, I think we need to remember that they have value. These kids have value, and they deserve a quality of life. A lot of the stuff I'm going to cover now is things that you know, but I want to highlight some things that maybe you don't know. Clearly genetic testing is not super affordable. It's expensive, and it's not something that families can easily pay for, because insurance companies don't all pay for it, and Medicaid, it depends on the state. Our state in Utah for a very long time, until just a couple years ago, would not cover whole exome sequencing at all. For us, we were told that it would be about $10,000 for whole exome sequencing, and that we had no options when it was denied. We tried to do some crowdsourcing with social media, listing his different conditions and body systems to help us find maybe an idea of some panels that we could do, but there was nothing that completely fit, and there were too many that kind of fit, and that's when we were advocating on Capitol Hill in Salt Lake, and I ran into another parent who said, hey, your story's my story, and we were in that situation, and we found a lab that would do the testing, and that she shared that information with us, and that's when we got genetic testing through the lab. What can you do to help? You can't pay for our testing. You can't change the minds of insurance companies, but there are things that you can do, and it will make a difference. If there's a way that you can provide a list, a website, a connection, a contact, so that parents can learn more about labs that have self-pay programs, and local, state, and national organizations that have financial assistance for testing, or for doctor visits that they'll need with specialists to even get genetic testing, and I know, you guys have all this time on your hands, right? But my suggestion is to use your resources. Who in your clinic can help? Who among your colleagues? What interns do you have? What connections do you have that can do a Google search? And I recently did one, and I came up with, there's a lot out there right now that's not super hard to find, and so to be able to hand a family some of those resources would be so comforting. And if you don't have access to a professional, find a medical mama. A lot of us are happy to help, and we would love to share knowledge with other families, and we accept payment in the form of AvaGuard. We love AvaGuard. So it's a hard hand sanitizer to find, and so we will accept payment also in syringes, because it's crazy I get 10 a month. So as you also know, it's not super accessible for everybody. It really depends on the area you live, and I may be in Utah, and Salt Lake City does not sound rural, but in actual Utah, it feels very rural. The things that we were told about whole exome sequencing not even being an option for us when we started this journey, that it's just a rumor that that testing is done, and it's not reliable, and insurance will certainly never cover it. And then I went out of state to conferences, and I heard different things that whole exome sequencing was being done all the time, and that it was being completely covered by insurance. And I'd come back and talk with our doctors and families, and it seemed like we were on a completely different planet. So things are not the same everywhere, and I think it's important to realize that depending on where you are, where you go, where families are coming from, you might have different ideas about what is available and what can help. We found out in Utah, like we were lucky to get in because we were inpatient so often, but usually Utah has a one to two year wait list for their first appointment for genetics. And then the recommendation is follow-ups every three to five years. So after we saw our geneticist a couple of times, and we were denied for whole exome sequencing, we were told, we'll come back in three to five years, and we'll see where technology's at then. And like I had mentioned in 2014, our whole exome sequencing was not commonly ordered. Our geneticist was the head of the department, and he told us he had ordered four, four whole exome sequencing tests in 2014. So what can you do about that? Make sure that your families are connected with early intervention specialists. They're so important. They know everyone and all the things. And make sure that they have connections with that and with schools, that they're referred to specialists, and that they know how to locate them because depending on where they live, they may not be easy to find. And that they are aware of genetic organizations like the Child Neurology Foundation so that if they don't have a particular diagnosis, they still have a place to go for resources. Let them know about the different epilepsy organizations out there that can support them. Medical language is very complex. We heard all sorts of words. It made me a fun list. Let's see. When we were going through those first couple of visits, we heard X-linked, recessive, de novo, mosaic, microarray, panel, WES, WGS, ultra-rare, VUS, pathogenic, benign. And then we were also told things like 49% won't get a diagnosis. But that means really half do, half don't. So it's probably not worth pursuing. We were also told that since we didn't have a diagnosis, being concerned about growing our family shouldn't be a concern because we didn't have a diagnosis. So that put us back with the general population of having a 0.3% chance of having a child with a genetic diagnosis. Well, do we confidently know that my child has a genetic condition? Yes. So doesn't that change that percentage? No, because he doesn't have a diagnosis. So it's just that your risk is 0.3%. Go. Go have all the babies. So a lot of stuff just didn't make sense. It wasn't understandable. I had a lot of questions about what the different tests were, what resources were available, and what a variant of unknown significance even meant. I connected with other parents and social media and nonprofit organizations that really helped get that information. But those are things that clinicians can help with, too. I struggled to understand and navigate this world, and I am an educated native English speaker. I often think about the challenges that other families must face that don't have the education that I have, that don't speak English as their first language, that they are speaking as their second language or still learning. So it's critically important that clinicians make sure that there's access to translators for their patients and that medical documents are available as much as possible in those languages and in print so that families can take them home and they can refer to them later, ask their questions when they're ready, and that they can—one thing that really helps is when doctors give actions, drawings, and diagrams. I'll never forget when we were very overwhelmed those first few weeks with Jason, and finally a specialist walked in, and he heard, and he saw him and instantly knew what was wrong and drew a little picture of his airway, and things suddenly made sense, and I felt completely calm. I was like, we got this. So those diagrams really help. I think it's very—the message I really want to relay to you is that you are a big part of your patient's story. You are part of their diagnostic journey, and while you may have many, many, many patients, they only have you as their neurologist or as their doctor, and you are a huge part in their story. In some ways, with epilepsy and genetic conditions, it can feel like it takes over a whole family's life, and it's you that help figure it out, treat it. You're that contact. You're the source of information and education, and it's invaluable. I can't stress enough how important you are to each family, and that you're talked about at the dinner table. The kids talk about you, and the role that you play is significant in helping these families get a diagnosis and get genetic testing. So here's some more things you can do. Make sure that there's some questions on your medical questionnaires or paperwork. Here you are getting ongoing education on genetics and resources. Finding a staff member or finding a family member that can be kind of like a family liaison to help connect with these families, and follow through and follow up. Make sure that you're not just sending referrals, telling families about things, but you're following up with them as well. We were told that a diagnosis wouldn't really make a difference, and it has. It's made all the difference in the world, and maybe if we were to sit and write it down scientifically, clinically, maybe not. But we learned a lot. All of these things we learned by having a diagnosis, and we have a community now. My son just recently had a three-week hospital stay, and while there we learned that another family with his condition in France had immune issues, and that they were getting some type of infusion treatment. And that was all we needed to get testing and find out that my son has very low IgG, and he immediately got IVIG infusions, and he's now going to receive them monthly for the rest of his life. That's a huge discovery, and that was because we had a community. So I want you to remember that the ripple effect, that while you have all of these patients, and genetic, talk about genetic testing and genetic diagnoses is just a piece of the work that you do. By helping a family get a diagnosis, there's a huge ripple effect. It affects generations. It leaves a medical legacy. It can literally impact or create an entire medical community. We have a medical community for the MCTT community now that didn't exist before. It saves lives, and it literally changes everything in the lives of your families. Thank you for all that you do. Thank you for your commitment, and I know how hard it is to find the time to dedicate to your families, but by prioritizing genetic testing and genetic conversations, I know it will help more families get diagnosed, and there will be more families like mine sharing their story on stages across the world, thanking neurologists for the work and service they do because their child's life has been changed for the better. Thank you.

Child Neurology Foundation

genetic testing

MN1 C-Terminal Truncation Syndrome

hereditary spastic paraplegia

community support

family advocacy