"It felt like the rare ghost stories you find in medical textbooks."
.png)
Foreward
We met David Law for The Portrait Project in 2023, where he shared with us the story of his daughter, Violet, and the diagnostic odyssey that led their family into pediatric clinical research. After our interview, we began shaping the piece, which is reflected below in Part I. But just before publication, David shared the heartbreaking news: Violet had suddenly passed.
We paused the story.
More than a year later, in early 2025, we reconnected with David to learn what had unfolded since our first meeting. That conversation is reflected in Part II.
We invite you to begin reading their story below - where you'll meet Violet just as we did, through her father's eyes.
Part I
“I grew up the child of immigrants in Los Angeles. My Mom is from the Philippines and my Dad is from Singapore. I was a straight A student, and for as long as I can remember, I knew what my trajectory would be: I’d go to the best schools and become a doctor, because in my family, that was a shining pillar compared to everything else.
I went to UC Berkeley for my undergraduate degree, and joined a fraternity called Pi Lambda Phi. At the time, my Dad asked “why I’d do this kind of thing.” Well, I wanted to be social and I hoped to make meaningful friendships! I mention this because that fraternity plays a big role in the story later on.
After medical school and a residency in California, I got a fellowship position at The University of Colorado Anschutz, specializing in gastroenterology. I met a woman named Veena, another out-of-towner who was also in Denver for her fellowship. She was a pediatric fellow and I was an adult medicine fellow. She’s now my wife! I would walk across the art museum from my place and meet her on the mall and we would walk around. Some of our first dates were there. It was a cute little romance. It was wonderful.
After Veena and I finished our fellowships, we moved back to Los Angeles and joined our respective medical practices. A couple years later in 2019, we had our first daughter, Violet. She was healthy and beautiful. Things were going swimmingly.
Then when 2020 hit, all hell broke loose. I'm a hospital physician, and there had already been whispers about the coronavirus in December of 2019. We knew something weird was going on. Soon, going into the hospital felt crazy. And then the lockdown started. So I’d go to the hospital and deal with that trauma, and then come home to my wife and our seven month old. Luckily no one in my family got super sick, and we never got COVID during the acute phase. But it was all still very overwhelming.
At the end of 2020, we started to feel like we could return to our normal lives and focus on Violet. It was then that I had a hard realization. I had been so distracted by the pandemic that I hadn’t noticed the behavioral regressions in Violet. She was born fine; there were no issues with her delivery. But by her first birthday, we noticed she was having more developmental regressions and laxity of the limbs. She wasn’t meeting milestones. Veena is a pediatric developmental specialist, so of all people, she would know if a child is missing milestones and what that could possibly mean. I give a lot of credit to Veena and her awareness. I think I was in denial at that point, and overwhelmed by the hospital environment as a physician.
We would soon embark on what we now know is called a “diagnostic odyssey.” A lot of rare disease patients or parents go through it…where you notice a deficiency in your child’s health and all of a sudden you have all these frontline tests and MRIs underway to hopefully get to the bottom of it. Then in the winter of 2021, Violet had her first seizure. It led to a hospitalization and an MRI, which showed something really horrible: her brain wasn’t developing correctly. It was terrifying. As doctors, we thought, okay, maybe it's cerebral palsy or another sort of limiting condition. The thought hadn’t crossed our minds that it could be a truly progressive neurological condition.
Luckily, we knew how to navigate the healthcare system. We knew who and what to ask for and the right people to talk to. We had genetic testing done, and that’s when doctors confirmed a diagnosis of GM1 gangliosidosis, a progressive neurologic condition. It belongs to a class of diseases called lysosomal storage diseases. It’s where the brain or the body doesn't have enough of a specific enzyme that breaks down chemicals that accumulate in the brain and spinal cord. It eventually leads to deterioration.
“Finding this out was the first of many deaths that would happen for us in this life.”
When you research GM1, the first thing you see is “No FDA approved therapies.” And for Violet’s specific stage of late infantile GM1, it said “average lifespan of five years.” When I read that, I thought my heart was going to explode. It was unfathomable. Finding this out was the first of many deaths that would happen for us in this life.
In May 2021, about a year and a half into the pandemic, things were winding down a bit for many other people. A lot of our friends have kids, so they were all getting ready for summer activities. New babies were being born all around us. But for me and Veena, it felt like the world had ended. Violet was still alive, but she was basically given a death sentence. Even we - two doctors with collective knowledge and a whole network of friends - didn’t know what to do. So that really says a lot. There was nothing to offer Violet other than symptomatic therapy and clinical trials. It was a very bleak time for us.
“I'm still digesting the different ways people reacted.”
In a situation as extreme as this, it's a crisis. You’re going through a period of deep loss. So at the beginning, we set a lot of boundaries for ourselves. There’s so much negativity in the world, and we already had the most negative thing possible happening right in front of us. So we had no capacity to deal with anything that wasn’t in support of our cause.
I'm still digesting the different ways people reacted. Some immediately jumped in and asked how they could help. It struck a deep chord with other new parents, as they couldn’t fathom going through something like this with their child. But there were also some people in my life who I thought would be there for us and weren’t. They kind of shut down and faded into the background. Maybe they didn’t know how to help, or they didn’t fully understand what was going on and the gravity of things. And I get that. But sometimes it’s just about being there. You don’t have to organize a bunch of meals or do any sort of grand gesture. What Veena and I have appreciated most is people who have made themselves known, even in the simplest of ways. A text message where someone lets you know they love you and are thinking about you can go a long way. Ultimately, I think it’s a common thing, where the people you expect to be there aren’t, and the people you didn’t expect to be there suddenly become your heroes. And we’re lucky we had a number of them.
“They say during these times there are silver linings. This was one of them.”
So remember earlier I mentioned joining that fraternity in college? God bless them. When all this happened, man, did they ride together. First of all, they established meals to come to the house for a few months, and took care of all our nutritional requirements. They made sure we were visited often. The whole Cal Berkeley alumni network really rallied around us. They started a GoFundMe page that, in the course of a week, raised $100,000, purely for GM1 research. It was overwhelming. I get emotional talking about it. They say during these times there are silver linings. This was one of them. Some of these people I had only met briefly back in college, yet here they were, with an outpouring of generosity.
Their involvement also sparked the next stage in this journey. Some of those guys connected me with pharma companies and others in the field who had knowledge of clinical trials. We knew there wasn’t a treatment or trial for GM1 specifically, but there were treatments for leukodystrophy (a group of neurological disorders) and other symptomatic things that we could pursue. For years, there were very minimal treatments for these kinds of diseases. Tay Sachs is a very similar neurodegenerative disease that’s more well-known. It has treatments, but historically none of them had been approved for GM1. But we chased every lead and found that the most promising was gene therapy. In the last 5-10 years, this new modality was showing promise in patients with neurodegenerative diseases, where a viral vector is inserted into the body to reprogram cells and recreate the enzyme that is missing in patients. It totally sounds like sci-fi. Fortunately, by the time Violet was diagnosed, human trials were underway. So through our networks, we got in touch with Children's Hospital of Orange County, UCLA and Children's Hospital of Oakland, since they all had these gene therapy trials. It was another silver lining…or so we thought at the time.
There’s a lot of adrenaline during this stage of things, those first couple of months after diagnosis. We were anxious to get the therapy. We thought it would fix the gene and then everything would be great. But after Violet’s evaluation, we were rejected from every single trial. We were told that, in order to be accepted, a child needed to have a baseline level of functionality for tracking purposes. And the morbid part is that they weren’t tracking to see improvement; they were tracking for decline, to see if the treatment altered the natural path of a disease like this. And they felt that Violet was past a certain threshold and that the treatment wouldn’t delay her regression. She was about a year and a half or so at that time, and couldn’t really sit up or hold her head up straight. She was missing a lot of developmental milestones - ones that other kids with her diagnosis had hit. So she didn’t fit their criteria. You can imagine our heartbreak. It felt like they were saying “Hey, here’s a possible treatment but, by the way, you can’t get it right now.” It’s kind of cold.
“The sad reality is that when someone receives a diagnosis like this, the families often fall apart.”
A couple months passed and we were in dire straits. Violet was still declining. I made contact with the Cure GM1 Foundation, which is the only nonprofit dedicated to GM1 research and treatment. It was founded by Christine Wagoner and her husband, Doug. Their daughter, Iris, has a less severe form of late infantile GM1. I believe Iris is 14 now, but over the last decade she’s slowly lost her ability to walk and talk. Christine is very academic in her approach with the foundation, so her professionalism made me even more drawn to this work.
The sad reality is that when someone receives a diagnosis like this, the families often fall apart – especially with people of certain socioeconomic backgrounds. They don't have the resources to fundraise for a cure; they’re preoccupied with surviving. It all gets very expensive very quickly, so they fundraise to pay for medical bills and expenses. There's only a select number of people who can dedicate the time and resources toward the greater cause of finding a cure, and even to establish the building blocks of rare disease treatment, like a natural history bank, which is something that most people don’t know to think about. So while I initially started out as just a GM1 parent, I felt compelled to join the foundation in a larger capacity and contribute to the overarching mission. Many parents in my shoes may not have understood the utility of this choice, especially in the acute phase of things. Why would I focus on the bigger picture instead of just making sure my own kid was healthy? But I found that it gave us a roadmap to navigate this uncharted path.
Fast forward a couple of months, I’m working with the foundation, and there were still no clinical trials in sight for Violet. Things were looking grim. I decided to reach out to my internal medicine residency networks, and got word that there was a clinical trial at UCLA. It wasn’t gene therapy, but rather a trial of a medication called Venglustat. The idea was that if you give the treatment to someone who is young enough and in the early stages of their diagnosis, detoxification may occur and restore some natural development. So we reached out to them but they never replied. We live ten minutes away from UCLA, so we were ready to go knock on some doors. But then I remembered a friend of mine, Dr. Eric Yang, a cardiologist at UCLA. He was a fellow when I was a resident there, so I called him. He ended up knocking on the door of Dr. Susan Proman, the clinical trial’s private investigator. He told her, ‘I have the perfect subject for your study, and she lives right down the street.’
Finally we at least had something.
From there, UCLA contacted us and sure enough, we got Violet right into the trial in November 2021. She started the medication and it was great. Finally we had at least something. As doctors, we weren’t satisfied with the support we had gotten up until that point, as it was only helping her manage symptoms. We wanted to attack the actual problem head on. And we had reviewed the literature on this treatment. It was a safe medication and had performed well in other trials. So it felt really good.
We've been on the trial for about two years now. Violet’s progress hasn’t been night and day, but the treatment has definitely been a stabilizing force. Some of the other children with GM1 have seen a decline, but Violet hasn’t. We’ve been very blessed. And here’s something else that’s scary to think about: As of today, almost every child diagnosed at the same time as Violet - even the ones who received the gene therapy treatment - are dead. It’s truly horrifying. And yet Violet just got home from therapy and she's smiling. But these are the stakes that we're playing with.
What I’ve learned about coping is that whatever happens is going to happen, and you just have to let it be.
We’ve had a lot of therapy sessions and a lot of open conversations throughout all of this. We’re raw about everything. There were definitely times where I felt irrational, especially at the beginning. But you have to go through those emotions. What I’ve learned about coping is that whatever happens is going to happen, and you just have to let it be. If it’s sad, be sad. If it makes you feel angry, be angry. The important thing is to let it move through you and move on to the next thing.
When we first learned about Violet’s diagnosis - and in the few months thereafter - we were living in a heightened state of anxiety. So much adrenaline and panic. But after several months, the shock wore off and it became more of a chronic, dull ache. And I figured out how important it was to channel that energy and pain into something productive, rather than wallowing in it for too long and doing something destructive. I certainly went through different phases and different ways of coping. But in the end, the thing that did it for me and provided me with the most contentment was throwing myself into advocacy. Staying active in a positive way has brought me peace. I’m in a place now that I wasn’t a year ago.
“I just am so hopeful that it will help affect real change in the future for rare diseases.”
I joined the board of the CureGM1 Foundation, where I help with fundraising and speaking engagements, and my life has assumed a weird sense of normalcy. Earlier this year, we worked to get Congress to pass an awareness day for GM1, which is a very difficult thing to do! That’s where my fraternity really showed up for us again. They ran a big story on it in the media, and it turned out that a recent graduate of my fraternity, Alexis Castro, was an assistant to State Senator Steve Padilla of San Diego. He saw the videos and the article that were posted in support of a GM1 Awareness Day, and reached out saying he wanted to help. He called me into his office in Sacramento; it was a very surreal experience. We sat there for a while talking about GM1 and my experience. He was immediately on board. He walked to the Senate floor and introduced SCR68, which was the resolution to declare GM1 Day in California. I was in the gallery and it passed unanimously. Afterwards, they acknowledged me for my advocacy. It was an incredible moment.
May 23, 2023 was thus declared GM1 Day, a day of awareness in California. But…not in perpetuity. It was that day and that year only. State legislatures are more inclined to accept temporary days. A federal holiday - like National MS Day or National Stroke Day - is a much bigger push. But nonetheless, awareness days are part of the advocacy arsenal. And so is social media. We all have TikTok accounts now, because we realized that no one’s really on Facebook anymore. It’s been one of the more lighthearted pieces of all of this, where we can talk about a very grave topic but present it in a way where people hopefully feel engaged and inspired and want to support us.
I always knew I’d go into healthcare and start a family. But now it’s become this really meaningful public advocacy work, where I get to talk to people not just in medicine but also on the policymaking and regulatory side of things. And I just am so hopeful that it will help affect real change in the future for rare diseases.
“We shouldn’t have placebo controlled trials for rare disease kids.”
Another issue we’re working on is eliminating placebo-controlled trials for rare disease patients. This seems obvious, right? Getting placebo in a rare disease trial feels like this morbid, sacrificial thing. They might as well be telling you, “Half of you will get the treatment, half will get a fake treatment. Good luck!” It’s crazy, right? And yet, there's a lot of archaic regulatory standards that refuse to budge. But we all want our kids to get the actual treatment and hopefully save their life and not completely shatter their development. So this is where advocacy comes into play. Christine, the GM1 Foundation’s president, went to the FDA earlier this year with several other veteran GM1 parents. They spoke with FDA officials about improving the standards for rare disease patients. But the regulatory and study design process is so complex, and much more cerebral and political than you’d ever imagine. We’re trying to build a bridge to treatment, and a hard part of that is coming to terms with how slowly everything moves. But we try to have gratitude for any small wins along the way.
“We find so much gratitude in even the smallest improvements or expressions of emotion.”
Violet is four years old now. At this age, most kids are getting louder, talking with their parents, and learning about the world. Violet can’t do that. But Veena and I have become more aware of the more subtle ways to communicate. It’s nonverbal, but it still contributes to a shared experience and a unique bond with Violet. A lot of our communication is through holding her and physical touch. We move her hands around, and I play the piano and violin for her. Music is great for any child’s development, but for us it’s huge. It helps us preserve communication with a child who has limited neurological function.
Violet also completed her first year of special ed preschool. The LA Unified School District provides a nurse that joins her during every session. She did get sick in the middle of the year and missed some days, but she completed the program nonetheless. Her path isn’t normal, but she’s doing so great.
The science-loving side of me is fascinated when I see the effect of Violet’s medication from the clinical trial. Sure, she doesn’t have much motor function, but we can tell she’s still absorbing things, laughing, and reacting to things in her own ways. So that’s really exciting for us. We’ve learned to take in victories like this and find so much gratitude in the smallest of improvements or expressions of emotion. When you consider all of the kids on ventilators who never make it out of the hospital…we’re blessed. I also can’t imagine being one of the many families with limited health literacy. They feel completely helpless. Veena and I were unknowingly preparing for this our entire lives through our careers. Another blessing.
In terms of the clinical trial itself, we’ve had nothing but positive experiences. We’re very fortunate, though. The trial site is literally right up the street from our house. We don’t have to travel long distances or miss work, like others in the trial do. And we also have financial support. I can’t imagine what it’s like for people who don’t. It’s just devastating to think about not being able to afford to keep a loved one alive. We’re so blessed with the resources we have and our knowledge of the healthcare system. My advice to anyone struggling with the financial aspect is to get to know your social worker or your case manager immediately. They’ll know which medical application to apply for. It’s crazy that life and death can literally depend on knowing which application to submit.
“It’s easy to get in your head and question what’s to come. But it will drive you crazy and it doesn’t serve anyone or anything but your own anxiety."
We try not to dwell too much. For us, it’s been much more productive to focus on the things we can control and the therapies that are helping. For example, Violet has a feeding tube, which doesn’t really freak me out as much as it may someone else, as I put in so many of these during my fellowship. And it’s really helping Violet. She’s gained weight. She looks wonderful. She was laughing this morning. Obviously she’s delayed amongst her peers, and the kids are still getting used to her, but she’s included in everything and she’s not in pain. She seems pretty happy, and that’s all we could ask for.”
Part II of Violet’s Story through The Portrait Project continues here, with the unimaginable – a loss no parent should face – and the legacy Violet leaves behind.
Foreward
We met David Law for The Portrait Project in 2023, where he shared with us the story of his daughter, Violet, and the diagnostic odyssey that led their family into pediatric clinical research. After our interview, we began shaping the piece, which is reflected below in Part I. But just before publication, David shared the heartbreaking news: Violet had suddenly passed.
We paused the story.
More than a year later, in early 2025, we reconnected with David to learn what had unfolded since our first meeting. That conversation is reflected in Part II.
We invite you to begin reading their story below - where you'll meet Violet just as we did, through her father's eyes.
Part I
“I grew up the child of immigrants in Los Angeles. My Mom is from the Philippines and my Dad is from Singapore. I was a straight A student, and for as long as I can remember, I knew what my trajectory would be: I’d go to the best schools and become a doctor, because in my family, that was a shining pillar compared to everything else.
I went to UC Berkeley for my undergraduate degree, and joined a fraternity called Pi Lambda Phi. At the time, my Dad asked “why I’d do this kind of thing.” Well, I wanted to be social and I hoped to make meaningful friendships! I mention this because that fraternity plays a big role in the story later on.
After medical school and a residency in California, I got a fellowship position at The University of Colorado Anschutz, specializing in gastroenterology. I met a woman named Veena, another out-of-towner who was also in Denver for her fellowship. She was a pediatric fellow and I was an adult medicine fellow. She’s now my wife! I would walk across the art museum from my place and meet her on the mall and we would walk around. Some of our first dates were there. It was a cute little romance. It was wonderful.
After Veena and I finished our fellowships, we moved back to Los Angeles and joined our respective medical practices. A couple years later in 2019, we had our first daughter, Violet. She was healthy and beautiful. Things were going swimmingly.
Then when 2020 hit, all hell broke loose. I'm a hospital physician, and there had already been whispers about the coronavirus in December of 2019. We knew something weird was going on. Soon, going into the hospital felt crazy. And then the lockdown started. So I’d go to the hospital and deal with that trauma, and then come home to my wife and our seven month old. Luckily no one in my family got super sick, and we never got COVID during the acute phase. But it was all still very overwhelming.
At the end of 2020, we started to feel like we could return to our normal lives and focus on Violet. It was then that I had a hard realization. I had been so distracted by the pandemic that I hadn’t noticed the behavioral regressions in Violet. She was born fine; there were no issues with her delivery. But by her first birthday, we noticed she was having more developmental regressions and laxity of the limbs. She wasn’t meeting milestones. Veena is a pediatric developmental specialist, so of all people, she would know if a child is missing milestones and what that could possibly mean. I give a lot of credit to Veena and her awareness. I think I was in denial at that point, and overwhelmed by the hospital environment as a physician.
We would soon embark on what we now know is called a “diagnostic odyssey.” A lot of rare disease patients or parents go through it…where you notice a deficiency in your child’s health and all of a sudden you have all these frontline tests and MRIs underway to hopefully get to the bottom of it. Then in the winter of 2021, Violet had her first seizure. It led to a hospitalization and an MRI, which showed something really horrible: her brain wasn’t developing correctly. It was terrifying. As doctors, we thought, okay, maybe it's cerebral palsy or another sort of limiting condition. The thought hadn’t crossed our minds that it could be a truly progressive neurological condition.
Luckily, we knew how to navigate the healthcare system. We knew who and what to ask for and the right people to talk to. We had genetic testing done, and that’s when doctors confirmed a diagnosis of GM1 gangliosidosis, a progressive neurologic condition. It belongs to a class of diseases called lysosomal storage diseases. It’s where the brain or the body doesn't have enough of a specific enzyme that breaks down chemicals that accumulate in the brain and spinal cord. It eventually leads to deterioration.
“Finding this out was the first of many deaths that would happen for us in this life.”
When you research GM1, the first thing you see is “No FDA approved therapies.” And for Violet’s specific stage of late infantile GM1, it said “average lifespan of five years.” When I read that, I thought my heart was going to explode. It was unfathomable. Finding this out was the first of many deaths that would happen for us in this life.
In May 2021, about a year and a half into the pandemic, things were winding down a bit for many other people. A lot of our friends have kids, so they were all getting ready for summer activities. New babies were being born all around us. But for me and Veena, it felt like the world had ended. Violet was still alive, but she was basically given a death sentence. Even we - two doctors with collective knowledge and a whole network of friends - didn’t know what to do. So that really says a lot. There was nothing to offer Violet other than symptomatic therapy and clinical trials. It was a very bleak time for us.
“I'm still digesting the different ways people reacted.”
In a situation as extreme as this, it's a crisis. You’re going through a period of deep loss. So at the beginning, we set a lot of boundaries for ourselves. There’s so much negativity in the world, and we already had the most negative thing possible happening right in front of us. So we had no capacity to deal with anything that wasn’t in support of our cause.
I'm still digesting the different ways people reacted. Some immediately jumped in and asked how they could help. It struck a deep chord with other new parents, as they couldn’t fathom going through something like this with their child. But there were also some people in my life who I thought would be there for us and weren’t. They kind of shut down and faded into the background. Maybe they didn’t know how to help, or they didn’t fully understand what was going on and the gravity of things. And I get that. But sometimes it’s just about being there. You don’t have to organize a bunch of meals or do any sort of grand gesture. What Veena and I have appreciated most is people who have made themselves known, even in the simplest of ways. A text message where someone lets you know they love you and are thinking about you can go a long way. Ultimately, I think it’s a common thing, where the people you expect to be there aren’t, and the people you didn’t expect to be there suddenly become your heroes. And we’re lucky we had a number of them.
“They say during these times there are silver linings. This was one of them.”
So remember earlier I mentioned joining that fraternity in college? God bless them. When all this happened, man, did they ride together. First of all, they established meals to come to the house for a few months, and took care of all our nutritional requirements. They made sure we were visited often. The whole Cal Berkeley alumni network really rallied around us. They started a GoFundMe page that, in the course of a week, raised $100,000, purely for GM1 research. It was overwhelming. I get emotional talking about it. They say during these times there are silver linings. This was one of them. Some of these people I had only met briefly back in college, yet here they were, with an outpouring of generosity.
Their involvement also sparked the next stage in this journey. Some of those guys connected me with pharma companies and others in the field who had knowledge of clinical trials. We knew there wasn’t a treatment or trial for GM1 specifically, but there were treatments for leukodystrophy (a group of neurological disorders) and other symptomatic things that we could pursue. For years, there were very minimal treatments for these kinds of diseases. Tay Sachs is a very similar neurodegenerative disease that’s more well-known. It has treatments, but historically none of them had been approved for GM1. But we chased every lead and found that the most promising was gene therapy. In the last 5-10 years, this new modality was showing promise in patients with neurodegenerative diseases, where a viral vector is inserted into the body to reprogram cells and recreate the enzyme that is missing in patients. It totally sounds like sci-fi. Fortunately, by the time Violet was diagnosed, human trials were underway. So through our networks, we got in touch with Children's Hospital of Orange County, UCLA and Children's Hospital of Oakland, since they all had these gene therapy trials. It was another silver lining…or so we thought at the time.
There’s a lot of adrenaline during this stage of things, those first couple of months after diagnosis. We were anxious to get the therapy. We thought it would fix the gene and then everything would be great. But after Violet’s evaluation, we were rejected from every single trial. We were told that, in order to be accepted, a child needed to have a baseline level of functionality for tracking purposes. And the morbid part is that they weren’t tracking to see improvement; they were tracking for decline, to see if the treatment altered the natural path of a disease like this. And they felt that Violet was past a certain threshold and that the treatment wouldn’t delay her regression. She was about a year and a half or so at that time, and couldn’t really sit up or hold her head up straight. She was missing a lot of developmental milestones - ones that other kids with her diagnosis had hit. So she didn’t fit their criteria. You can imagine our heartbreak. It felt like they were saying “Hey, here’s a possible treatment but, by the way, you can’t get it right now.” It’s kind of cold.
“The sad reality is that when someone receives a diagnosis like this, the families often fall apart.”
A couple months passed and we were in dire straits. Violet was still declining. I made contact with the Cure GM1 Foundation, which is the only nonprofit dedicated to GM1 research and treatment. It was founded by Christine Wagoner and her husband, Doug. Their daughter, Iris, has a less severe form of late infantile GM1. I believe Iris is 14 now, but over the last decade she’s slowly lost her ability to walk and talk. Christine is very academic in her approach with the foundation, so her professionalism made me even more drawn to this work.
The sad reality is that when someone receives a diagnosis like this, the families often fall apart – especially with people of certain socioeconomic backgrounds. They don't have the resources to fundraise for a cure; they’re preoccupied with surviving. It all gets very expensive very quickly, so they fundraise to pay for medical bills and expenses. There's only a select number of people who can dedicate the time and resources toward the greater cause of finding a cure, and even to establish the building blocks of rare disease treatment, like a natural history bank, which is something that most people don’t know to think about. So while I initially started out as just a GM1 parent, I felt compelled to join the foundation in a larger capacity and contribute to the overarching mission. Many parents in my shoes may not have understood the utility of this choice, especially in the acute phase of things. Why would I focus on the bigger picture instead of just making sure my own kid was healthy? But I found that it gave us a roadmap to navigate this uncharted path.
Fast forward a couple of months, I’m working with the foundation, and there were still no clinical trials in sight for Violet. Things were looking grim. I decided to reach out to my internal medicine residency networks, and got word that there was a clinical trial at UCLA. It wasn’t gene therapy, but rather a trial of a medication called Venglustat. The idea was that if you give the treatment to someone who is young enough and in the early stages of their diagnosis, detoxification may occur and restore some natural development. So we reached out to them but they never replied. We live ten minutes away from UCLA, so we were ready to go knock on some doors. But then I remembered a friend of mine, Dr. Eric Yang, a cardiologist at UCLA. He was a fellow when I was a resident there, so I called him. He ended up knocking on the door of Dr. Susan Proman, the clinical trial’s private investigator. He told her, ‘I have the perfect subject for your study, and she lives right down the street.’
Finally we at least had something.
From there, UCLA contacted us and sure enough, we got Violet right into the trial in November 2021. She started the medication and it was great. Finally we had at least something. As doctors, we weren’t satisfied with the support we had gotten up until that point, as it was only helping her manage symptoms. We wanted to attack the actual problem head on. And we had reviewed the literature on this treatment. It was a safe medication and had performed well in other trials. So it felt really good.
We've been on the trial for about two years now. Violet’s progress hasn’t been night and day, but the treatment has definitely been a stabilizing force. Some of the other children with GM1 have seen a decline, but Violet hasn’t. We’ve been very blessed. And here’s something else that’s scary to think about: As of today, almost every child diagnosed at the same time as Violet - even the ones who received the gene therapy treatment - are dead. It’s truly horrifying. And yet Violet just got home from therapy and she's smiling. But these are the stakes that we're playing with.
What I’ve learned about coping is that whatever happens is going to happen, and you just have to let it be.
We’ve had a lot of therapy sessions and a lot of open conversations throughout all of this. We’re raw about everything. There were definitely times where I felt irrational, especially at the beginning. But you have to go through those emotions. What I’ve learned about coping is that whatever happens is going to happen, and you just have to let it be. If it’s sad, be sad. If it makes you feel angry, be angry. The important thing is to let it move through you and move on to the next thing.
When we first learned about Violet’s diagnosis - and in the few months thereafter - we were living in a heightened state of anxiety. So much adrenaline and panic. But after several months, the shock wore off and it became more of a chronic, dull ache. And I figured out how important it was to channel that energy and pain into something productive, rather than wallowing in it for too long and doing something destructive. I certainly went through different phases and different ways of coping. But in the end, the thing that did it for me and provided me with the most contentment was throwing myself into advocacy. Staying active in a positive way has brought me peace. I’m in a place now that I wasn’t a year ago.
“I just am so hopeful that it will help affect real change in the future for rare diseases.”
I joined the board of the CureGM1 Foundation, where I help with fundraising and speaking engagements, and my life has assumed a weird sense of normalcy. Earlier this year, we worked to get Congress to pass an awareness day for GM1, which is a very difficult thing to do! That’s where my fraternity really showed up for us again. They ran a big story on it in the media, and it turned out that a recent graduate of my fraternity, Alexis Castro, was an assistant to State Senator Steve Padilla of San Diego. He saw the videos and the article that were posted in support of a GM1 Awareness Day, and reached out saying he wanted to help. He called me into his office in Sacramento; it was a very surreal experience. We sat there for a while talking about GM1 and my experience. He was immediately on board. He walked to the Senate floor and introduced SCR68, which was the resolution to declare GM1 Day in California. I was in the gallery and it passed unanimously. Afterwards, they acknowledged me for my advocacy. It was an incredible moment.
May 23, 2023 was thus declared GM1 Day, a day of awareness in California. But…not in perpetuity. It was that day and that year only. State legislatures are more inclined to accept temporary days. A federal holiday - like National MS Day or National Stroke Day - is a much bigger push. But nonetheless, awareness days are part of the advocacy arsenal. And so is social media. We all have TikTok accounts now, because we realized that no one’s really on Facebook anymore. It’s been one of the more lighthearted pieces of all of this, where we can talk about a very grave topic but present it in a way where people hopefully feel engaged and inspired and want to support us.
I always knew I’d go into healthcare and start a family. But now it’s become this really meaningful public advocacy work, where I get to talk to people not just in medicine but also on the policymaking and regulatory side of things. And I just am so hopeful that it will help affect real change in the future for rare diseases.
“We shouldn’t have placebo controlled trials for rare disease kids.”
Another issue we’re working on is eliminating placebo-controlled trials for rare disease patients. This seems obvious, right? Getting placebo in a rare disease trial feels like this morbid, sacrificial thing. They might as well be telling you, “Half of you will get the treatment, half will get a fake treatment. Good luck!” It’s crazy, right? And yet, there's a lot of archaic regulatory standards that refuse to budge. But we all want our kids to get the actual treatment and hopefully save their life and not completely shatter their development. So this is where advocacy comes into play. Christine, the GM1 Foundation’s president, went to the FDA earlier this year with several other veteran GM1 parents. They spoke with FDA officials about improving the standards for rare disease patients. But the regulatory and study design process is so complex, and much more cerebral and political than you’d ever imagine. We’re trying to build a bridge to treatment, and a hard part of that is coming to terms with how slowly everything moves. But we try to have gratitude for any small wins along the way.
“We find so much gratitude in even the smallest improvements or expressions of emotion.”
Violet is four years old now. At this age, most kids are getting louder, talking with their parents, and learning about the world. Violet can’t do that. But Veena and I have become more aware of the more subtle ways to communicate. It’s nonverbal, but it still contributes to a shared experience and a unique bond with Violet. A lot of our communication is through holding her and physical touch. We move her hands around, and I play the piano and violin for her. Music is great for any child’s development, but for us it’s huge. It helps us preserve communication with a child who has limited neurological function.
Violet also completed her first year of special ed preschool. The LA Unified School District provides a nurse that joins her during every session. She did get sick in the middle of the year and missed some days, but she completed the program nonetheless. Her path isn’t normal, but she’s doing so great.
The science-loving side of me is fascinated when I see the effect of Violet’s medication from the clinical trial. Sure, she doesn’t have much motor function, but we can tell she’s still absorbing things, laughing, and reacting to things in her own ways. So that’s really exciting for us. We’ve learned to take in victories like this and find so much gratitude in the smallest of improvements or expressions of emotion. When you consider all of the kids on ventilators who never make it out of the hospital…we’re blessed. I also can’t imagine being one of the many families with limited health literacy. They feel completely helpless. Veena and I were unknowingly preparing for this our entire lives through our careers. Another blessing.
In terms of the clinical trial itself, we’ve had nothing but positive experiences. We’re very fortunate, though. The trial site is literally right up the street from our house. We don’t have to travel long distances or miss work, like others in the trial do. And we also have financial support. I can’t imagine what it’s like for people who don’t. It’s just devastating to think about not being able to afford to keep a loved one alive. We’re so blessed with the resources we have and our knowledge of the healthcare system. My advice to anyone struggling with the financial aspect is to get to know your social worker or your case manager immediately. They’ll know which medical application to apply for. It’s crazy that life and death can literally depend on knowing which application to submit.
“It’s easy to get in your head and question what’s to come. But it will drive you crazy and it doesn’t serve anyone or anything but your own anxiety."
We try not to dwell too much. For us, it’s been much more productive to focus on the things we can control and the therapies that are helping. For example, Violet has a feeding tube, which doesn’t really freak me out as much as it may someone else, as I put in so many of these during my fellowship. And it’s really helping Violet. She’s gained weight. She looks wonderful. She was laughing this morning. Obviously she’s delayed amongst her peers, and the kids are still getting used to her, but she’s included in everything and she’s not in pain. She seems pretty happy, and that’s all we could ask for.”
Part II of Violet’s Story through The Portrait Project continues here, with the unimaginable – a loss no parent should face – and the legacy Violet leaves behind.
Foreward
We met David Law for The Portrait Project in 2023, where he shared with us the story of his daughter, Violet, and the diagnostic odyssey that led their family into pediatric clinical research. After our interview, we began shaping the piece, which is reflected below in Part I. But just before publication, David shared the heartbreaking news: Violet had suddenly passed.
We paused the story.
More than a year later, in early 2025, we reconnected with David to learn what had unfolded since our first meeting. That conversation is reflected in Part II.
We invite you to begin reading their story below - where you'll meet Violet just as we did, through her father's eyes.
Part I
“I grew up the child of immigrants in Los Angeles. My Mom is from the Philippines and my Dad is from Singapore. I was a straight A student, and for as long as I can remember, I knew what my trajectory would be: I’d go to the best schools and become a doctor, because in my family, that was a shining pillar compared to everything else.
I went to UC Berkeley for my undergraduate degree, and joined a fraternity called Pi Lambda Phi. At the time, my Dad asked “why I’d do this kind of thing.” Well, I wanted to be social and I hoped to make meaningful friendships! I mention this because that fraternity plays a big role in the story later on.
After medical school and a residency in California, I got a fellowship position at The University of Colorado Anschutz, specializing in gastroenterology. I met a woman named Veena, another out-of-towner who was also in Denver for her fellowship. She was a pediatric fellow and I was an adult medicine fellow. She’s now my wife! I would walk across the art museum from my place and meet her on the mall and we would walk around. Some of our first dates were there. It was a cute little romance. It was wonderful.
After Veena and I finished our fellowships, we moved back to Los Angeles and joined our respective medical practices. A couple years later in 2019, we had our first daughter, Violet. She was healthy and beautiful. Things were going swimmingly.
Then when 2020 hit, all hell broke loose. I'm a hospital physician, and there had already been whispers about the coronavirus in December of 2019. We knew something weird was going on. Soon, going into the hospital felt crazy. And then the lockdown started. So I’d go to the hospital and deal with that trauma, and then come home to my wife and our seven month old. Luckily no one in my family got super sick, and we never got COVID during the acute phase. But it was all still very overwhelming.
At the end of 2020, we started to feel like we could return to our normal lives and focus on Violet. It was then that I had a hard realization. I had been so distracted by the pandemic that I hadn’t noticed the behavioral regressions in Violet. She was born fine; there were no issues with her delivery. But by her first birthday, we noticed she was having more developmental regressions and laxity of the limbs. She wasn’t meeting milestones. Veena is a pediatric developmental specialist, so of all people, she would know if a child is missing milestones and what that could possibly mean. I give a lot of credit to Veena and her awareness. I think I was in denial at that point, and overwhelmed by the hospital environment as a physician.
We would soon embark on what we now know is called a “diagnostic odyssey.” A lot of rare disease patients or parents go through it…where you notice a deficiency in your child’s health and all of a sudden you have all these frontline tests and MRIs underway to hopefully get to the bottom of it. Then in the winter of 2021, Violet had her first seizure. It led to a hospitalization and an MRI, which showed something really horrible: her brain wasn’t developing correctly. It was terrifying. As doctors, we thought, okay, maybe it's cerebral palsy or another sort of limiting condition. The thought hadn’t crossed our minds that it could be a truly progressive neurological condition.
Luckily, we knew how to navigate the healthcare system. We knew who and what to ask for and the right people to talk to. We had genetic testing done, and that’s when doctors confirmed a diagnosis of GM1 gangliosidosis, a progressive neurologic condition. It belongs to a class of diseases called lysosomal storage diseases. It’s where the brain or the body doesn't have enough of a specific enzyme that breaks down chemicals that accumulate in the brain and spinal cord. It eventually leads to deterioration.
“Finding this out was the first of many deaths that would happen for us in this life.”
When you research GM1, the first thing you see is “No FDA approved therapies.” And for Violet’s specific stage of late infantile GM1, it said “average lifespan of five years.” When I read that, I thought my heart was going to explode. It was unfathomable. Finding this out was the first of many deaths that would happen for us in this life.
In May 2021, about a year and a half into the pandemic, things were winding down a bit for many other people. A lot of our friends have kids, so they were all getting ready for summer activities. New babies were being born all around us. But for me and Veena, it felt like the world had ended. Violet was still alive, but she was basically given a death sentence. Even we - two doctors with collective knowledge and a whole network of friends - didn’t know what to do. So that really says a lot. There was nothing to offer Violet other than symptomatic therapy and clinical trials. It was a very bleak time for us.
“I'm still digesting the different ways people reacted.”
In a situation as extreme as this, it's a crisis. You’re going through a period of deep loss. So at the beginning, we set a lot of boundaries for ourselves. There’s so much negativity in the world, and we already had the most negative thing possible happening right in front of us. So we had no capacity to deal with anything that wasn’t in support of our cause.
I'm still digesting the different ways people reacted. Some immediately jumped in and asked how they could help. It struck a deep chord with other new parents, as they couldn’t fathom going through something like this with their child. But there were also some people in my life who I thought would be there for us and weren’t. They kind of shut down and faded into the background. Maybe they didn’t know how to help, or they didn’t fully understand what was going on and the gravity of things. And I get that. But sometimes it’s just about being there. You don’t have to organize a bunch of meals or do any sort of grand gesture. What Veena and I have appreciated most is people who have made themselves known, even in the simplest of ways. A text message where someone lets you know they love you and are thinking about you can go a long way. Ultimately, I think it’s a common thing, where the people you expect to be there aren’t, and the people you didn’t expect to be there suddenly become your heroes. And we’re lucky we had a number of them.
“They say during these times there are silver linings. This was one of them.”
So remember earlier I mentioned joining that fraternity in college? God bless them. When all this happened, man, did they ride together. First of all, they established meals to come to the house for a few months, and took care of all our nutritional requirements. They made sure we were visited often. The whole Cal Berkeley alumni network really rallied around us. They started a GoFundMe page that, in the course of a week, raised $100,000, purely for GM1 research. It was overwhelming. I get emotional talking about it. They say during these times there are silver linings. This was one of them. Some of these people I had only met briefly back in college, yet here they were, with an outpouring of generosity.
Their involvement also sparked the next stage in this journey. Some of those guys connected me with pharma companies and others in the field who had knowledge of clinical trials. We knew there wasn’t a treatment or trial for GM1 specifically, but there were treatments for leukodystrophy (a group of neurological disorders) and other symptomatic things that we could pursue. For years, there were very minimal treatments for these kinds of diseases. Tay Sachs is a very similar neurodegenerative disease that’s more well-known. It has treatments, but historically none of them had been approved for GM1. But we chased every lead and found that the most promising was gene therapy. In the last 5-10 years, this new modality was showing promise in patients with neurodegenerative diseases, where a viral vector is inserted into the body to reprogram cells and recreate the enzyme that is missing in patients. It totally sounds like sci-fi. Fortunately, by the time Violet was diagnosed, human trials were underway. So through our networks, we got in touch with Children's Hospital of Orange County, UCLA and Children's Hospital of Oakland, since they all had these gene therapy trials. It was another silver lining…or so we thought at the time.
There’s a lot of adrenaline during this stage of things, those first couple of months after diagnosis. We were anxious to get the therapy. We thought it would fix the gene and then everything would be great. But after Violet’s evaluation, we were rejected from every single trial. We were told that, in order to be accepted, a child needed to have a baseline level of functionality for tracking purposes. And the morbid part is that they weren’t tracking to see improvement; they were tracking for decline, to see if the treatment altered the natural path of a disease like this. And they felt that Violet was past a certain threshold and that the treatment wouldn’t delay her regression. She was about a year and a half or so at that time, and couldn’t really sit up or hold her head up straight. She was missing a lot of developmental milestones - ones that other kids with her diagnosis had hit. So she didn’t fit their criteria. You can imagine our heartbreak. It felt like they were saying “Hey, here’s a possible treatment but, by the way, you can’t get it right now.” It’s kind of cold.
“The sad reality is that when someone receives a diagnosis like this, the families often fall apart.”
A couple months passed and we were in dire straits. Violet was still declining. I made contact with the Cure GM1 Foundation, which is the only nonprofit dedicated to GM1 research and treatment. It was founded by Christine Wagoner and her husband, Doug. Their daughter, Iris, has a less severe form of late infantile GM1. I believe Iris is 14 now, but over the last decade she’s slowly lost her ability to walk and talk. Christine is very academic in her approach with the foundation, so her professionalism made me even more drawn to this work.
The sad reality is that when someone receives a diagnosis like this, the families often fall apart – especially with people of certain socioeconomic backgrounds. They don't have the resources to fundraise for a cure; they’re preoccupied with surviving. It all gets very expensive very quickly, so they fundraise to pay for medical bills and expenses. There's only a select number of people who can dedicate the time and resources toward the greater cause of finding a cure, and even to establish the building blocks of rare disease treatment, like a natural history bank, which is something that most people don’t know to think about. So while I initially started out as just a GM1 parent, I felt compelled to join the foundation in a larger capacity and contribute to the overarching mission. Many parents in my shoes may not have understood the utility of this choice, especially in the acute phase of things. Why would I focus on the bigger picture instead of just making sure my own kid was healthy? But I found that it gave us a roadmap to navigate this uncharted path.
Fast forward a couple of months, I’m working with the foundation, and there were still no clinical trials in sight for Violet. Things were looking grim. I decided to reach out to my internal medicine residency networks, and got word that there was a clinical trial at UCLA. It wasn’t gene therapy, but rather a trial of a medication called Venglustat. The idea was that if you give the treatment to someone who is young enough and in the early stages of their diagnosis, detoxification may occur and restore some natural development. So we reached out to them but they never replied. We live ten minutes away from UCLA, so we were ready to go knock on some doors. But then I remembered a friend of mine, Dr. Eric Yang, a cardiologist at UCLA. He was a fellow when I was a resident there, so I called him. He ended up knocking on the door of Dr. Susan Proman, the clinical trial’s private investigator. He told her, ‘I have the perfect subject for your study, and she lives right down the street.’
Finally we at least had something.
From there, UCLA contacted us and sure enough, we got Violet right into the trial in November 2021. She started the medication and it was great. Finally we had at least something. As doctors, we weren’t satisfied with the support we had gotten up until that point, as it was only helping her manage symptoms. We wanted to attack the actual problem head on. And we had reviewed the literature on this treatment. It was a safe medication and had performed well in other trials. So it felt really good.
We've been on the trial for about two years now. Violet’s progress hasn’t been night and day, but the treatment has definitely been a stabilizing force. Some of the other children with GM1 have seen a decline, but Violet hasn’t. We’ve been very blessed. And here’s something else that’s scary to think about: As of today, almost every child diagnosed at the same time as Violet - even the ones who received the gene therapy treatment - are dead. It’s truly horrifying. And yet Violet just got home from therapy and she's smiling. But these are the stakes that we're playing with.
What I’ve learned about coping is that whatever happens is going to happen, and you just have to let it be.
We’ve had a lot of therapy sessions and a lot of open conversations throughout all of this. We’re raw about everything. There were definitely times where I felt irrational, especially at the beginning. But you have to go through those emotions. What I’ve learned about coping is that whatever happens is going to happen, and you just have to let it be. If it’s sad, be sad. If it makes you feel angry, be angry. The important thing is to let it move through you and move on to the next thing.
When we first learned about Violet’s diagnosis - and in the few months thereafter - we were living in a heightened state of anxiety. So much adrenaline and panic. But after several months, the shock wore off and it became more of a chronic, dull ache. And I figured out how important it was to channel that energy and pain into something productive, rather than wallowing in it for too long and doing something destructive. I certainly went through different phases and different ways of coping. But in the end, the thing that did it for me and provided me with the most contentment was throwing myself into advocacy. Staying active in a positive way has brought me peace. I’m in a place now that I wasn’t a year ago.
“I just am so hopeful that it will help affect real change in the future for rare diseases.”
I joined the board of the CureGM1 Foundation, where I help with fundraising and speaking engagements, and my life has assumed a weird sense of normalcy. Earlier this year, we worked to get Congress to pass an awareness day for GM1, which is a very difficult thing to do! That’s where my fraternity really showed up for us again. They ran a big story on it in the media, and it turned out that a recent graduate of my fraternity, Alexis Castro, was an assistant to State Senator Steve Padilla of San Diego. He saw the videos and the article that were posted in support of a GM1 Awareness Day, and reached out saying he wanted to help. He called me into his office in Sacramento; it was a very surreal experience. We sat there for a while talking about GM1 and my experience. He was immediately on board. He walked to the Senate floor and introduced SCR68, which was the resolution to declare GM1 Day in California. I was in the gallery and it passed unanimously. Afterwards, they acknowledged me for my advocacy. It was an incredible moment.
May 23, 2023 was thus declared GM1 Day, a day of awareness in California. But…not in perpetuity. It was that day and that year only. State legislatures are more inclined to accept temporary days. A federal holiday - like National MS Day or National Stroke Day - is a much bigger push. But nonetheless, awareness days are part of the advocacy arsenal. And so is social media. We all have TikTok accounts now, because we realized that no one’s really on Facebook anymore. It’s been one of the more lighthearted pieces of all of this, where we can talk about a very grave topic but present it in a way where people hopefully feel engaged and inspired and want to support us.
I always knew I’d go into healthcare and start a family. But now it’s become this really meaningful public advocacy work, where I get to talk to people not just in medicine but also on the policymaking and regulatory side of things. And I just am so hopeful that it will help affect real change in the future for rare diseases.
“We shouldn’t have placebo controlled trials for rare disease kids.”
Another issue we’re working on is eliminating placebo-controlled trials for rare disease patients. This seems obvious, right? Getting placebo in a rare disease trial feels like this morbid, sacrificial thing. They might as well be telling you, “Half of you will get the treatment, half will get a fake treatment. Good luck!” It’s crazy, right? And yet, there's a lot of archaic regulatory standards that refuse to budge. But we all want our kids to get the actual treatment and hopefully save their life and not completely shatter their development. So this is where advocacy comes into play. Christine, the GM1 Foundation’s president, went to the FDA earlier this year with several other veteran GM1 parents. They spoke with FDA officials about improving the standards for rare disease patients. But the regulatory and study design process is so complex, and much more cerebral and political than you’d ever imagine. We’re trying to build a bridge to treatment, and a hard part of that is coming to terms with how slowly everything moves. But we try to have gratitude for any small wins along the way.
“We find so much gratitude in even the smallest improvements or expressions of emotion.”
Violet is four years old now. At this age, most kids are getting louder, talking with their parents, and learning about the world. Violet can’t do that. But Veena and I have become more aware of the more subtle ways to communicate. It’s nonverbal, but it still contributes to a shared experience and a unique bond with Violet. A lot of our communication is through holding her and physical touch. We move her hands around, and I play the piano and violin for her. Music is great for any child’s development, but for us it’s huge. It helps us preserve communication with a child who has limited neurological function.
Violet also completed her first year of special ed preschool. The LA Unified School District provides a nurse that joins her during every session. She did get sick in the middle of the year and missed some days, but she completed the program nonetheless. Her path isn’t normal, but she’s doing so great.
The science-loving side of me is fascinated when I see the effect of Violet’s medication from the clinical trial. Sure, she doesn’t have much motor function, but we can tell she’s still absorbing things, laughing, and reacting to things in her own ways. So that’s really exciting for us. We’ve learned to take in victories like this and find so much gratitude in the smallest of improvements or expressions of emotion. When you consider all of the kids on ventilators who never make it out of the hospital…we’re blessed. I also can’t imagine being one of the many families with limited health literacy. They feel completely helpless. Veena and I were unknowingly preparing for this our entire lives through our careers. Another blessing.
In terms of the clinical trial itself, we’ve had nothing but positive experiences. We’re very fortunate, though. The trial site is literally right up the street from our house. We don’t have to travel long distances or miss work, like others in the trial do. And we also have financial support. I can’t imagine what it’s like for people who don’t. It’s just devastating to think about not being able to afford to keep a loved one alive. We’re so blessed with the resources we have and our knowledge of the healthcare system. My advice to anyone struggling with the financial aspect is to get to know your social worker or your case manager immediately. They’ll know which medical application to apply for. It’s crazy that life and death can literally depend on knowing which application to submit.
“It’s easy to get in your head and question what’s to come. But it will drive you crazy and it doesn’t serve anyone or anything but your own anxiety."
We try not to dwell too much. For us, it’s been much more productive to focus on the things we can control and the therapies that are helping. For example, Violet has a feeding tube, which doesn’t really freak me out as much as it may someone else, as I put in so many of these during my fellowship. And it’s really helping Violet. She’s gained weight. She looks wonderful. She was laughing this morning. Obviously she’s delayed amongst her peers, and the kids are still getting used to her, but she’s included in everything and she’s not in pain. She seems pretty happy, and that’s all we could ask for.”
Part II of Violet’s Story through The Portrait Project continues here, with the unimaginable – a loss no parent should face – and the legacy Violet leaves behind.
Foreward
We met David Law for The Portrait Project in 2023, where he shared with us the story of his daughter, Violet, and the diagnostic odyssey that led their family into pediatric clinical research. After our interview, we began shaping the piece, which is reflected below in Part I. But just before publication, David shared the heartbreaking news: Violet had suddenly passed.
We paused the story.
More than a year later, in early 2025, we reconnected with David to learn what had unfolded since our first meeting. That conversation is reflected in Part II.
We invite you to begin reading their story below - where you'll meet Violet just as we did, through her father's eyes.
Part I
“I grew up the child of immigrants in Los Angeles. My Mom is from the Philippines and my Dad is from Singapore. I was a straight A student, and for as long as I can remember, I knew what my trajectory would be: I’d go to the best schools and become a doctor, because in my family, that was a shining pillar compared to everything else.
I went to UC Berkeley for my undergraduate degree, and joined a fraternity called Pi Lambda Phi. At the time, my Dad asked “why I’d do this kind of thing.” Well, I wanted to be social and I hoped to make meaningful friendships! I mention this because that fraternity plays a big role in the story later on.
After medical school and a residency in California, I got a fellowship position at The University of Colorado Anschutz, specializing in gastroenterology. I met a woman named Veena, another out-of-towner who was also in Denver for her fellowship. She was a pediatric fellow and I was an adult medicine fellow. She’s now my wife! I would walk across the art museum from my place and meet her on the mall and we would walk around. Some of our first dates were there. It was a cute little romance. It was wonderful.
After Veena and I finished our fellowships, we moved back to Los Angeles and joined our respective medical practices. A couple years later in 2019, we had our first daughter, Violet. She was healthy and beautiful. Things were going swimmingly.
Then when 2020 hit, all hell broke loose. I'm a hospital physician, and there had already been whispers about the coronavirus in December of 2019. We knew something weird was going on. Soon, going into the hospital felt crazy. And then the lockdown started. So I’d go to the hospital and deal with that trauma, and then come home to my wife and our seven month old. Luckily no one in my family got super sick, and we never got COVID during the acute phase. But it was all still very overwhelming.
At the end of 2020, we started to feel like we could return to our normal lives and focus on Violet. It was then that I had a hard realization. I had been so distracted by the pandemic that I hadn’t noticed the behavioral regressions in Violet. She was born fine; there were no issues with her delivery. But by her first birthday, we noticed she was having more developmental regressions and laxity of the limbs. She wasn’t meeting milestones. Veena is a pediatric developmental specialist, so of all people, she would know if a child is missing milestones and what that could possibly mean. I give a lot of credit to Veena and her awareness. I think I was in denial at that point, and overwhelmed by the hospital environment as a physician.
We would soon embark on what we now know is called a “diagnostic odyssey.” A lot of rare disease patients or parents go through it…where you notice a deficiency in your child’s health and all of a sudden you have all these frontline tests and MRIs underway to hopefully get to the bottom of it. Then in the winter of 2021, Violet had her first seizure. It led to a hospitalization and an MRI, which showed something really horrible: her brain wasn’t developing correctly. It was terrifying. As doctors, we thought, okay, maybe it's cerebral palsy or another sort of limiting condition. The thought hadn’t crossed our minds that it could be a truly progressive neurological condition.
Luckily, we knew how to navigate the healthcare system. We knew who and what to ask for and the right people to talk to. We had genetic testing done, and that’s when doctors confirmed a diagnosis of GM1 gangliosidosis, a progressive neurologic condition. It belongs to a class of diseases called lysosomal storage diseases. It’s where the brain or the body doesn't have enough of a specific enzyme that breaks down chemicals that accumulate in the brain and spinal cord. It eventually leads to deterioration.
“Finding this out was the first of many deaths that would happen for us in this life.”
When you research GM1, the first thing you see is “No FDA approved therapies.” And for Violet’s specific stage of late infantile GM1, it said “average lifespan of five years.” When I read that, I thought my heart was going to explode. It was unfathomable. Finding this out was the first of many deaths that would happen for us in this life.
In May 2021, about a year and a half into the pandemic, things were winding down a bit for many other people. A lot of our friends have kids, so they were all getting ready for summer activities. New babies were being born all around us. But for me and Veena, it felt like the world had ended. Violet was still alive, but she was basically given a death sentence. Even we - two doctors with collective knowledge and a whole network of friends - didn’t know what to do. So that really says a lot. There was nothing to offer Violet other than symptomatic therapy and clinical trials. It was a very bleak time for us.
“I'm still digesting the different ways people reacted.”
In a situation as extreme as this, it's a crisis. You’re going through a period of deep loss. So at the beginning, we set a lot of boundaries for ourselves. There’s so much negativity in the world, and we already had the most negative thing possible happening right in front of us. So we had no capacity to deal with anything that wasn’t in support of our cause.
I'm still digesting the different ways people reacted. Some immediately jumped in and asked how they could help. It struck a deep chord with other new parents, as they couldn’t fathom going through something like this with their child. But there were also some people in my life who I thought would be there for us and weren’t. They kind of shut down and faded into the background. Maybe they didn’t know how to help, or they didn’t fully understand what was going on and the gravity of things. And I get that. But sometimes it’s just about being there. You don’t have to organize a bunch of meals or do any sort of grand gesture. What Veena and I have appreciated most is people who have made themselves known, even in the simplest of ways. A text message where someone lets you know they love you and are thinking about you can go a long way. Ultimately, I think it’s a common thing, where the people you expect to be there aren’t, and the people you didn’t expect to be there suddenly become your heroes. And we’re lucky we had a number of them.
“They say during these times there are silver linings. This was one of them.”
So remember earlier I mentioned joining that fraternity in college? God bless them. When all this happened, man, did they ride together. First of all, they established meals to come to the house for a few months, and took care of all our nutritional requirements. They made sure we were visited often. The whole Cal Berkeley alumni network really rallied around us. They started a GoFundMe page that, in the course of a week, raised $100,000, purely for GM1 research. It was overwhelming. I get emotional talking about it. They say during these times there are silver linings. This was one of them. Some of these people I had only met briefly back in college, yet here they were, with an outpouring of generosity.
Their involvement also sparked the next stage in this journey. Some of those guys connected me with pharma companies and others in the field who had knowledge of clinical trials. We knew there wasn’t a treatment or trial for GM1 specifically, but there were treatments for leukodystrophy (a group of neurological disorders) and other symptomatic things that we could pursue. For years, there were very minimal treatments for these kinds of diseases. Tay Sachs is a very similar neurodegenerative disease that’s more well-known. It has treatments, but historically none of them had been approved for GM1. But we chased every lead and found that the most promising was gene therapy. In the last 5-10 years, this new modality was showing promise in patients with neurodegenerative diseases, where a viral vector is inserted into the body to reprogram cells and recreate the enzyme that is missing in patients. It totally sounds like sci-fi. Fortunately, by the time Violet was diagnosed, human trials were underway. So through our networks, we got in touch with Children's Hospital of Orange County, UCLA and Children's Hospital of Oakland, since they all had these gene therapy trials. It was another silver lining…or so we thought at the time.
There’s a lot of adrenaline during this stage of things, those first couple of months after diagnosis. We were anxious to get the therapy. We thought it would fix the gene and then everything would be great. But after Violet’s evaluation, we were rejected from every single trial. We were told that, in order to be accepted, a child needed to have a baseline level of functionality for tracking purposes. And the morbid part is that they weren’t tracking to see improvement; they were tracking for decline, to see if the treatment altered the natural path of a disease like this. And they felt that Violet was past a certain threshold and that the treatment wouldn’t delay her regression. She was about a year and a half or so at that time, and couldn’t really sit up or hold her head up straight. She was missing a lot of developmental milestones - ones that other kids with her diagnosis had hit. So she didn’t fit their criteria. You can imagine our heartbreak. It felt like they were saying “Hey, here’s a possible treatment but, by the way, you can’t get it right now.” It’s kind of cold.
“The sad reality is that when someone receives a diagnosis like this, the families often fall apart.”
A couple months passed and we were in dire straits. Violet was still declining. I made contact with the Cure GM1 Foundation, which is the only nonprofit dedicated to GM1 research and treatment. It was founded by Christine Wagoner and her husband, Doug. Their daughter, Iris, has a less severe form of late infantile GM1. I believe Iris is 14 now, but over the last decade she’s slowly lost her ability to walk and talk. Christine is very academic in her approach with the foundation, so her professionalism made me even more drawn to this work.
The sad reality is that when someone receives a diagnosis like this, the families often fall apart – especially with people of certain socioeconomic backgrounds. They don't have the resources to fundraise for a cure; they’re preoccupied with surviving. It all gets very expensive very quickly, so they fundraise to pay for medical bills and expenses. There's only a select number of people who can dedicate the time and resources toward the greater cause of finding a cure, and even to establish the building blocks of rare disease treatment, like a natural history bank, which is something that most people don’t know to think about. So while I initially started out as just a GM1 parent, I felt compelled to join the foundation in a larger capacity and contribute to the overarching mission. Many parents in my shoes may not have understood the utility of this choice, especially in the acute phase of things. Why would I focus on the bigger picture instead of just making sure my own kid was healthy? But I found that it gave us a roadmap to navigate this uncharted path.
Fast forward a couple of months, I’m working with the foundation, and there were still no clinical trials in sight for Violet. Things were looking grim. I decided to reach out to my internal medicine residency networks, and got word that there was a clinical trial at UCLA. It wasn’t gene therapy, but rather a trial of a medication called Venglustat. The idea was that if you give the treatment to someone who is young enough and in the early stages of their diagnosis, detoxification may occur and restore some natural development. So we reached out to them but they never replied. We live ten minutes away from UCLA, so we were ready to go knock on some doors. But then I remembered a friend of mine, Dr. Eric Yang, a cardiologist at UCLA. He was a fellow when I was a resident there, so I called him. He ended up knocking on the door of Dr. Susan Proman, the clinical trial’s private investigator. He told her, ‘I have the perfect subject for your study, and she lives right down the street.’
Finally we at least had something.
From there, UCLA contacted us and sure enough, we got Violet right into the trial in November 2021. She started the medication and it was great. Finally we had at least something. As doctors, we weren’t satisfied with the support we had gotten up until that point, as it was only helping her manage symptoms. We wanted to attack the actual problem head on. And we had reviewed the literature on this treatment. It was a safe medication and had performed well in other trials. So it felt really good.
We've been on the trial for about two years now. Violet’s progress hasn’t been night and day, but the treatment has definitely been a stabilizing force. Some of the other children with GM1 have seen a decline, but Violet hasn’t. We’ve been very blessed. And here’s something else that’s scary to think about: As of today, almost every child diagnosed at the same time as Violet - even the ones who received the gene therapy treatment - are dead. It’s truly horrifying. And yet Violet just got home from therapy and she's smiling. But these are the stakes that we're playing with.
What I’ve learned about coping is that whatever happens is going to happen, and you just have to let it be.
We’ve had a lot of therapy sessions and a lot of open conversations throughout all of this. We’re raw about everything. There were definitely times where I felt irrational, especially at the beginning. But you have to go through those emotions. What I’ve learned about coping is that whatever happens is going to happen, and you just have to let it be. If it’s sad, be sad. If it makes you feel angry, be angry. The important thing is to let it move through you and move on to the next thing.
When we first learned about Violet’s diagnosis - and in the few months thereafter - we were living in a heightened state of anxiety. So much adrenaline and panic. But after several months, the shock wore off and it became more of a chronic, dull ache. And I figured out how important it was to channel that energy and pain into something productive, rather than wallowing in it for too long and doing something destructive. I certainly went through different phases and different ways of coping. But in the end, the thing that did it for me and provided me with the most contentment was throwing myself into advocacy. Staying active in a positive way has brought me peace. I’m in a place now that I wasn’t a year ago.
“I just am so hopeful that it will help affect real change in the future for rare diseases.”
I joined the board of the CureGM1 Foundation, where I help with fundraising and speaking engagements, and my life has assumed a weird sense of normalcy. Earlier this year, we worked to get Congress to pass an awareness day for GM1, which is a very difficult thing to do! That’s where my fraternity really showed up for us again. They ran a big story on it in the media, and it turned out that a recent graduate of my fraternity, Alexis Castro, was an assistant to State Senator Steve Padilla of San Diego. He saw the videos and the article that were posted in support of a GM1 Awareness Day, and reached out saying he wanted to help. He called me into his office in Sacramento; it was a very surreal experience. We sat there for a while talking about GM1 and my experience. He was immediately on board. He walked to the Senate floor and introduced SCR68, which was the resolution to declare GM1 Day in California. I was in the gallery and it passed unanimously. Afterwards, they acknowledged me for my advocacy. It was an incredible moment.
May 23, 2023 was thus declared GM1 Day, a day of awareness in California. But…not in perpetuity. It was that day and that year only. State legislatures are more inclined to accept temporary days. A federal holiday - like National MS Day or National Stroke Day - is a much bigger push. But nonetheless, awareness days are part of the advocacy arsenal. And so is social media. We all have TikTok accounts now, because we realized that no one’s really on Facebook anymore. It’s been one of the more lighthearted pieces of all of this, where we can talk about a very grave topic but present it in a way where people hopefully feel engaged and inspired and want to support us.
I always knew I’d go into healthcare and start a family. But now it’s become this really meaningful public advocacy work, where I get to talk to people not just in medicine but also on the policymaking and regulatory side of things. And I just am so hopeful that it will help affect real change in the future for rare diseases.
“We shouldn’t have placebo controlled trials for rare disease kids.”
Another issue we’re working on is eliminating placebo-controlled trials for rare disease patients. This seems obvious, right? Getting placebo in a rare disease trial feels like this morbid, sacrificial thing. They might as well be telling you, “Half of you will get the treatment, half will get a fake treatment. Good luck!” It’s crazy, right? And yet, there's a lot of archaic regulatory standards that refuse to budge. But we all want our kids to get the actual treatment and hopefully save their life and not completely shatter their development. So this is where advocacy comes into play. Christine, the GM1 Foundation’s president, went to the FDA earlier this year with several other veteran GM1 parents. They spoke with FDA officials about improving the standards for rare disease patients. But the regulatory and study design process is so complex, and much more cerebral and political than you’d ever imagine. We’re trying to build a bridge to treatment, and a hard part of that is coming to terms with how slowly everything moves. But we try to have gratitude for any small wins along the way.
“We find so much gratitude in even the smallest improvements or expressions of emotion.”
Violet is four years old now. At this age, most kids are getting louder, talking with their parents, and learning about the world. Violet can’t do that. But Veena and I have become more aware of the more subtle ways to communicate. It’s nonverbal, but it still contributes to a shared experience and a unique bond with Violet. A lot of our communication is through holding her and physical touch. We move her hands around, and I play the piano and violin for her. Music is great for any child’s development, but for us it’s huge. It helps us preserve communication with a child who has limited neurological function.
Violet also completed her first year of special ed preschool. The LA Unified School District provides a nurse that joins her during every session. She did get sick in the middle of the year and missed some days, but she completed the program nonetheless. Her path isn’t normal, but she’s doing so great.
The science-loving side of me is fascinated when I see the effect of Violet’s medication from the clinical trial. Sure, she doesn’t have much motor function, but we can tell she’s still absorbing things, laughing, and reacting to things in her own ways. So that’s really exciting for us. We’ve learned to take in victories like this and find so much gratitude in the smallest of improvements or expressions of emotion. When you consider all of the kids on ventilators who never make it out of the hospital…we’re blessed. I also can’t imagine being one of the many families with limited health literacy. They feel completely helpless. Veena and I were unknowingly preparing for this our entire lives through our careers. Another blessing.
In terms of the clinical trial itself, we’ve had nothing but positive experiences. We’re very fortunate, though. The trial site is literally right up the street from our house. We don’t have to travel long distances or miss work, like others in the trial do. And we also have financial support. I can’t imagine what it’s like for people who don’t. It’s just devastating to think about not being able to afford to keep a loved one alive. We’re so blessed with the resources we have and our knowledge of the healthcare system. My advice to anyone struggling with the financial aspect is to get to know your social worker or your case manager immediately. They’ll know which medical application to apply for. It’s crazy that life and death can literally depend on knowing which application to submit.
“It’s easy to get in your head and question what’s to come. But it will drive you crazy and it doesn’t serve anyone or anything but your own anxiety."
We try not to dwell too much. For us, it’s been much more productive to focus on the things we can control and the therapies that are helping. For example, Violet has a feeding tube, which doesn’t really freak me out as much as it may someone else, as I put in so many of these during my fellowship. And it’s really helping Violet. She’s gained weight. She looks wonderful. She was laughing this morning. Obviously she’s delayed amongst her peers, and the kids are still getting used to her, but she’s included in everything and she’s not in pain. She seems pretty happy, and that’s all we could ask for.”
Part II of Violet’s Story through The Portrait Project continues here, with the unimaginable – a loss no parent should face – and the legacy Violet leaves behind.
My first piece of advice is to advocate for your child and for yourself. I’ve seen situations where a child presents with a rather common complaint, such as slurred speech or a hypotonia (decreased muscle tone). Parents will often be told to try therapy for a few months and see if anything improves. But you know your child best. If you’re concerned and afraid that the doctor is brushing you off, press for more testing. Get a second opinion.
My second piece of advice is to honor your emotions. It’s easy to get caught up in the academic side of things, trying to intellectualize it all and find answers. But if you stay in that zone for too long, your emotions are bound to catch up with you. Releasing your emotions is just as important as anything else. If you don’t take care of yourself, you will hit a wall and it will be devastating. Families fall apart because of this. There’s no easy route through it, but the last thing you want is collateral damage.
Representation Matters
Increasing diversity in clinical trials builds trust, promotes health equity, and leads to more effective treatments and better outcomes (NEJM). But there is much work to be done - and barriers to break - to improve awareness and access for all people.
Do you know someone who is a member of a marginalized community who has participated in a clinical trial? If so, we’d love to meet them and share their story. We hope to represent the many faces of clinical trials through this project, and inspire others by shining a light on their experience.
They can contact us here.
