BONUS: Power of Patients: Stories about taking back the narrative

The Story Collider is delighted to bring you an extra BONUS episode this week -- thanks to the Chan Zuckerberg Initiative, a new kind of philanthropy that’s leveraging technology to help solve some of the world’s toughest challenges. Both of the stories featured in this episode were recorded a very special show we produced in collaboration with CZI last June in Aspen, about rare medical conditions and the importance of leveraging the power of patients to accelerate research and drive progress.

Part 1: Luke Rosen signs his daughter up for a research study to find out what's causing her seizures and ends up having to fight to find the answers.

Luke Rosen and Sally Jackson founded KIF1A.ORG in 2016 following their daughter Susannah’s KIF1A diagnosis. Luke has extensive experience in rare disease stakeholder engagement, advocacy and research initiatives. Recognized by Global Genes as a 2018 RARE Champion of Hope Honoree, Luke often speaks at international events about innovation in therapeutic development, and about his family’s rare disease journey. Luke’s mission is to accelerate biotech innovation and forge efficient collaborations within the scientific and patient communities, resulting in discovery of treatment for children like Susannah. He relentlessly works to empower families affected by rare genetic diseases to play an active role in discovery, from pre-clinical research through clinical trial readiness and regulatory approval.

Part 2: After doctors are unable to prevent her daughter's daily seizures, Tracy Dixon-Salazar decides to take matters into her own hands.

Dr. Tracy Dixon-Salazar is a neuroscientist, geneticist, and, patient advocate. Her desire to get her Ph.D. was inspired by her daughter who developed Lennox-Gastaut Syndrome (LGS) at the age of 2. She did her Ph.D. and post-doctoral work at UC, San Diego where she studied the mechanisms of brain development and synaptic plasticity, identified genetic causes of rare disorders in children, and researched precision therapeutics in stem cell and animal models of pediatric disease. During her research tenure, and after 16 years of watching daily, unrelenting seizures in her child, she uncovered the driver of her daughter’s illness and identified a novel precision therapy that improved her child's life. Dr. Dixon-Salazar is an accomplished scientist, proven thought leader, highly sought-after speaker, and staunch advocate for genomic medicine, patient-centric research, and patient engagement.

About the Chan Zuckerberg Initiative

Founded by Dr. Priscilla Chan and Mark Zuckerberg in 2015, the Chan Zuckerberg Initiative (CZI) is a new kind of philanthropy that’s leveraging technology to help solve some of the world’s toughest challenges — from eradicating disease, to improving education, to reforming the criminal justice system. Across three core Initiative focus areas of Science, Education, and Justice & Opportunity, we’re pairing engineering with grant-making, impact investing, and policy and advocacy work to help build an inclusive, just and healthy future for everyone. For more information, please visit www.chanzuckerberg.com.

 

Episode Transcript

Part 1: Luke Rosen

A researcher once told me never to tell this story so, needless to say, I’m ecstatic to be here telling the story.

It was almost exactly three years ago last month that I realized the moment that something was really wrong with my daughter’s health. It was a tricky morning. Susannah has these moments where she just leaves us. It’s part of her seizure disorder. She just goes off and leaves us for a couple of moments. It was a morning where a couple of moments turned into more moments like that.

She had fallen and she split her lip open. It was just a tricky morning so I put her in the stroller and was pushing her down Amsterdam Avenue when her legs shot up like planks and she started screaming and crying. That was the moment that I knew something was really, really wrong.

So I scooped her up and figured out a way to get a taxi with this spastic two-year-old in my arm. I left the stroller on the corner of Amsterdam and 110 and went to the emergency room to the hospital. The neurologist did three things. The neurologist ordered us to get an MRI, to get an EEG and to get extensive genetic testing.

About a week later, my wife and I were with Susannah in the hospital. It was about 5:00 in the morning and I really needed a break. I really felt guilty that I needed a break because Susannah is there. She's sleeping. And she is hooked up to all these cords and all of these machines and it’s terrifying to see our daughter lying there, twitching in her sleep and smiling.

So Susannah was sound asleep, finally, and Sally my wife, we had this moment of being able to take a deep breath. It was quiet except for the beeping of the machine. But I needed a break and so I left the room and I sat down on this bench outside of the hospital room.

There was a little window so I could see inside the room, so I could still see Susannah lying there, twitching a little in her sleep and hooked up to all the machines. I saw Sally was walking around the room setting everything up so when Susannah did wake up she was happy and comfortable. Her dolls were looking at her bed and her new clothes and pajamas were all laid out on the bed so when she woke up we can immediately take the clothes off that were reeking like glue from what was just put on her head for the last three days. I just wanted to get back in the room so I stood up and I walked back into the room.

Sally and I had that moment again where we got to look at each other and then the door opened. This woman walked in carrying a clipboard and I could tell that she was very good at what she did. Like part of the skill set she needed to get this job was the ability to open up a door in a hospital room where there were two destroyed parents looking at each other and a sleeping kid and not wake the kid up. She did that very well.

She walked into the room and she said, “I’m here to get the ball rolling on your genetic testing, so to enroll you in the research study.”

Luke Rosen shares his story with the Story Collider audience at The Little Nell in Aspen, CO in June 2019. Photo by Dale Ramos.

Luke Rosen shares his story with the Story Collider audience at The Little Nell in Aspen, CO in June 2019. Photo by Dale Ramos.

And we thought, “Research study? What is she talking about?”

“Oh,” then we put it together. It was the genetic testing that our neurologist had ordered.

So she went through the consent form with us and told us how it was going to happen. Both Sally and I got our blood drawn and then they did it with Susannah and that was it. We signed the consent form and went home in a couple of hours.

The next three months were pretty tricky. Those three months actually got real, those three months. Susannah was having more seizures, she was starting to lose her vision, she was falling a lot. But the thing that was incredible was our son, Nat. He's two years older than Susannah and those three months, things were so tricky for so many reasons but their love is so real.

So we were waiting to hear about the genetic test to see if we were going to get an answer for what might be happening to Susannah. Weeks went by and I was calling every week to the geneticist’s office. Then I was calling everyday to the office saying, “Are the results back? Did you guys find anything? What’s going on?”

And they weren’t back and, “No, we haven't found anything.”

It was just terrifying and building and building and building.

One day, I was on top of the ladder screwing a light bulb in our hallway and Sally and the kids had just left and the phone rang. I just, for some reason, knew that this was this woman. It was that woman who was so good at walking into the room with a clipboard and getting us to sign the consent. I just knew it was going to be her, and it was.

I said, “Hello.”

And she said, “Hello, Luke?”

I said, “Hello. Yes. How are you?”

I was like, what? I asked her how she was? Now I have to hear… but I did.

So I said, “Did you find anything out? What are the results back from the test?”

She said, “We did. We found what we think is happening with Susannah, what’s causing all of the problems and all of her challenges, but we can’t tell you yet.”

I was thinking, “What? I’m sorry,” and I remember very specifically thinking why am I apologizing to her.

Like, “I’m sorry, what? You can’t tell me?” I had this fleeting second where I was about to get this answer that we've been looking for for months but then you can’t tell me yet? What are you talking about, lady?”

She said, “Well, if you remember in the consent form, because it’s a research study that if something does come back that tells us what’s going on, if there's a pathogenic or likely pathogenic disease causing mutation, we have to send it off and have it clinically confirmed in another lab.”

I said, “Well, okay. Could you call me back in like 15 minutes then?”

She said, “No, it’s going to take a week or two.”

And I thought, “You just called me to tell me that you know what’s wrong with Susannah but it’s going to take a week or two. I have to wait more. No way.”

So I hung up the phone and I just walked a couple of blocks. I said I’m going to walk up to this guy’s office, this investigator’s office who’s running this study. I’m going to sit down and say, “Hey, listen. You really got to tell me what’s going on. Come on. You're a dad. There's got to be something. There must be a mistake.” So I did.

I was walking up to the campus and it’s really tricky to get around there. It’s like a maze. So I called back, I called his office, and when the woman picked up I said, “You know, I wanted to come by and talk to you guys a little bit more. I’m a little turned around. I’m lost. Can you tell me exactly where you guys are located?”

Then she hung up on me. I think maybe we got disconnected or something.

Then there was a security guard right on the street there and I said, “Hey, I’m going to so-and-so building. Can you tell me where that is?”

He said, “Yeah. It’s right over there.”

I walked there. I got there and, when I got there, there were two security guards there who took my ID, asked who I was going to see and then escorted me away from the building and said, “You can’t be here.”

So I felt like there were people in this building who had an answer that we were trying to find for years and wouldn’t give it us. Not only would they not give it to us, they told me that I couldn’t even be in their building.

So I thought, okay, I’m just going to walk over to the neurologist’s office. There's a doctor who will help me maybe. So I did.

I walked a couple more blocks to the hospital, went to the neurologist office and I walked in to a crowded doctor’s office where lots of people were waiting. I went right to the reception desk and I said, “I need to talk to a neurologist. It’s an emergency.” I didn’t have a kid with me so where’s the emergency?

But finally, a neurologist, a new neurologist we hadn’t seen came out and said, “Okay, come into my office.” She was like pissed off and annoyed that I had burst into the office and said this is an emergency. I need to talk to somebody.

Luke Rosen shares his story with the Story Collider audience at The Little Nell in Aspen, CO in June 2019. Photo by Dale Ramos.

Luke Rosen shares his story with the Story Collider audience at The Little Nell in Aspen, CO in June 2019. Photo by Dale Ramos.

She brought me in. She sat down at her desk and I sat down on the other side of her desk. There was a computer in front of her. She asked me for my daughter’s birthday, some other information that could pull up her whatever, so I said, “You know, I’m just having trouble figuring out some answers from this genetic test that we got.”

This doctor said, “Okay, let me look. Let me look.”

She pulled up Susannah’s records and I saw her face go from agitated that this guy was in her office to very kind and a little bit scared.

Then she said, “Let me print something out for you.”

She printed out three papers. And she said, “We don’t know much about KIF1A so we’ll have to make another appointment where you can come back and talk with a neurologist. But here’s some papers that were written about it.

She handed me these papers and I looked at them. They had words like ‘early death',’ brain atrophy’, ‘spastic paraplegia’, ‘optic nerve atrophy’, terrifying words on this research paper. And I had relief. I had this paper. I had an idea. I had a couple of initials, letters, KIF1A.

I was reading these papers as I was walking back and I said, “I have to go tell Sally what has just happened in the last four hours.”

I went home and I walked into the kitchen and Sally was at the refrigerator so her back was to me. I remember thinking there was this fleeting moment where I could turn around and go do this another time.

She turned around and I told her what we just heard. We cried and hugged each other in the kitchen. Then we started researching whatever we could do to find out what KIF1A meant and these three papers. We Googled every investigator who was an author on those papers and I tried to get in touch with them. Finally, a friend of a friend of a friend, you know how it goes, told us, “You have to see this one doctor. You have to see her, contact her.”

So I found her email address and I sent her an email and, 24 seconds later, she responded. She said, “Would you like to come in tomorrow and I can explain the implications of this disease to you?”

The next day at 7:00 in the morning, Sally and I went to Dr. Chung’s office. We took the elevator up to her floor. When the elevator door opened, there were three people there. There was a genetic counselor, a social worker and a nurse practitioner. Sally and I looked at each other and we said, “Shit.”

They brought us into this family room and asked us a couple of questions. Then Dr. Chung came in. She very clearly and very empathetically told us exactly what to expect. She told us that Susannah has a mutation in her KIF1A gene that is causing a neuro-degenerative disease with a progressive course and Susannah will probably lose the ability to walk and talk and see and we don’t know how long she would live. There's not much known about it.

And a lot was going on in that room. There was a lot of crying going on in that room. But I could just think about one thing and I blurted it out. I said, “How are we going to tell Nat?” Our son, Susannah’s older brother, how are we going to tell him?

Dr. Chung said, “He is going to grow up to be a remarkable young man,” and the appointment was over.

But we didn’t just leave like you do in every other doctor’s appointment. Dr. Chung walked us out of her office, got into the elevator with us, took the elevator down, walked us out onto the street and put us in a cab. Gave us a hug and told us that she would see us soon. And thank God for that elevator because I can’t imagine what that ride would have been like if it was just me and Sally.

And all I was thinking about was something incredibly selfish. I was thinking, “I’m never going to get to dance with my daughter at her wedding.”

And Sally and I rode the taxi back home into our new and incredibly unthinkable normal. Thank you.

 

Part 2: Tracy Dixon-Salazar

So 24 years ago I was a very young stay-at-home mom. I had two kids, a four-year-old son, Talon and a two-year old daughter, Savannah, and I was just living life, minding my own business. My kids were great. They were not advanced. They were not behind. They were just typical kids.

One morning, I was woken up in the very early morning hours, it was still dark outside, by the sound of my husband screaming my name from my daughter Savannah’s room, my two-year-old. I ran in there frantic. I had no idea what was going on. And I saw him frantic as well. I had no idea until I looked and I saw Savannah.

She was laying on the bed. She was stiff as a board, her arms at her side and completely rigid. Her eyes were rolled up into her head and stuck there. She was blue, like she wasn’t getting enough oxygen. She wasn’t breathing. And she had bubbles, foam, drool, something coming out of her mouth. There are really no words that I can use to describe how I felt in that moment. It was this whole body terror that just took over every aspect, every fiber of my being. I thought she was dying or dead.

My husband shouted something like, “I think she's choking. Call 911.” So I ran back to the bedroom and I dialed 911.

I talked to the operator and she said, “I want you to stay on the phone until the paramedics get there,” and I said, “Okay,” but the phone cord won’t reach to the bedroom, because it was that long ago. I just wanted to get back to Savannah but I couldn’t.

So I stayed on the phone and I vaguely recall shouting things to my husband, “How is she doing,” and then relaying it. “Is she breathing?”

“No.”

“Okay.” Relaying it back to the operator.

I remember at one point becoming so overwhelmed, so afraid, so shocked that I started to feel hot and dizzy and I had to kneel down and then I had to sit down. Then at one point I was lying face first on the cold tile floor of the bedroom with the floor here and the phone here, weakly, still trying to communicate between my husband and the operator, the stupid phone cord that wouldn’t reach, and try to stay conscious because I was so overwhelmed that my daughter was dead.

I have no idea how long it took the paramedics to get there. I remember hearing the sirens come up and getting closer. And then I remember finally getting off the phone with the operator and we ran downstairs. My husband had her in his arms and she was limp, still blue. She had saliva mixed with blood running down her face.

And as he handed her over, she took in a deep breath, like a [inhaling] noise and it was the first time that I realized that she was still alive.

The paramedic took her to the living room and examined her and she was sort of coming out of it at that point. Her color returning, responsive. And we described this choking incident.

He said, “You know, her airway is clear and she's fine now. What you describe sounds just like a seizure.”

Then I said, “What’s a seizure?”

We had no idea. She had been completely fine and this was out of the blue. That was our harsh introduction into the world of epilepsy.

A few weeks later, she had another seizure and we saw the doctors. It took them six months for them to tell us that she had epilepsy, because they didn’t want to label her with that horrible word.

Tracy Dixon-Salazar shares his story with the Story Collider audience at The Little Nell in Aspen, CO in June 2019. Photo by Dale Ramos.

Tracy Dixon-Salazar shares his story with the Story Collider audience at The Little Nell in Aspen, CO in June 2019. Photo by Dale Ramos.

And they assured us, “Epilepsy is not a big deal. Even though we’re afraid to tell you that that’s what it’s called, it’s not a big deal. She’ll live a normal life. She might outgrow it.”

There are all these famous people that have epilepsy. Prince, Picasso, Dostoyevsky, all these people that we are best friends with and meet every day, right?

“And then she’ll just go on medicine. There are all these medicines that can control seizures. This is not going to be a problem. And don’t worry. Even though she's turning blue, seizures do not damage the brain.”

None of that was true for us and we lost a lot of trust in doctors after that. We felt lied to.

By the time Savannah was three, so six months after the first seizure, she was having seizures every day. A good day was five to ten seizures, a bad day was hundreds. I stopped counting after a certain point, too many to count.

She was getting injured all the time, falling usually on her face from the seizures. And delays in her development were becoming very, very apparent because of all the seizures that she was having as they did damage the brain.

Everything we tried, drugs, diets, devices, alternative therapy, supplements, vitamins. We even considered brain surgery, she wasn’t a candidate.

“We’re sorry, Mrs. Salazar. Your daughter is not a candidate for brain surgery.” We didn’t know whether to be devastated or relieved.

But nothing worked.

By the time she was five, we got yet another diagnosis. She had evolved into something called Lennox-Gastaut Syndrome or LGS. This is a rare pediatric epilepsy syndrome, it’s a group of symptoms, that have a really horrific prognosis. The prognosis is continued seizures, progressive intellectual disability and premature death. And we still had no idea why.

During all this time we became prisoners in our own home on purpose because it was just easier. We spent all our time trying to keep this kid safe, trying to keep a young kid who’s active and mobile and perfectly typical who was having seizures all the time from not running around. If there was a brick fireplace within a five-mile radius, her face would find it.

I remember asking the doctors, “What happened? She was fine. She wasn’t advanced, she wasn’t delayed, what happened? It’s out of the blue.”

They said, “Well, no. Most people with epilepsy don’t know the cause.”

So welcome to the majority. Congratulations. It was so dogmatic the way they said it.

And I have heard a lot of really dumb things in my life but that didn’t make any sense, especially in light of all the things that she had tried and failed.

I was, “What if we knew what caused it then maybe we could treat that?” It was as if nobody was looking.

So this is when I started reading scientific papers about what could cause epilepsy. I would go to the library and check out internet time for an hour. That’s how long ago this was. And I would get whatever papers were on the internet back then, usually things that were really old and obscure. And I had no idea what the hell I was reading.

I thought I just want to know what causes epilepsy. I don't understand this. I need to go to college and take some English classes. I hadn’t done well in high school. I'd never been to college but I have to go take some English classes because I need to understand this.

It turns out that my English is fine and that scientific papers are not in English. It’s a whole different language. And medicine is yet a third language.

So I enrolled in some scientific classes and I fell in love with the subject. I specifically fell in love with genetics. Here were these things called genes that turn on and off in synchrony across brain development and they regulate everything from the color of your hair to what you look like to how you behave. This was something, finally, out of everything that I'd heard, everything that I'd read that could explain why I had a healthy kid one day and why I didn’t.

So I stayed in school. I stuck with it. I kept at it. I couldn’t help my kid but, dammit, I could study. So every seizure she had I would study harder.

I wanted to quit often with school. I always thought, like everyday I'd go, “But I have to quit tomorrow because I’m not going to be able to juggle all this.”

I mean LGS is a lot. And then life, life is just a lot without all the seizures. But my husband wouldn’t let me and our journey up until that point wouldn’t let me. I couldn’t help Savannah but I could try to help the next generation of Savannah’s. It could not be this bad for the next group of families.

So I stayed in school despite the urging of many of my family members that thought I should be at home taking care of my daughter. Four years later, I got my Associate’s Degree. I did mention I hadn’t done well in high school. It took a long time to remediate. Three years after that I got my Bachelor’s. Two years later I got a Master’s. And twelve years from the very time I started school I earned a PhD studying neuroscience and genetics.

I was doing my post-doctoral fellowship in UC San Diego where I had done all my training and, guess what? Genes play a huge role in early life epilepsies. My job was to find genes in kids just like my daughter, and we did. We found more than a hundred. I was part of this global team. I was this one tiny piece. And when we found the genes, we tell the families, making it better, I hope, for the next generation.

I wish I could tell you that things were great back home. They weren’t. Savannah was a mess. She was having seizures every day, still. She was having about 75 seizures a week and she was going into these non-stop seizures weekly where they wouldn’t stop on their own. So we would intervene.

We’d have to intervene with emergency rescue therapies. This started with a rectally administered drug at home. When that didn’t work, we would take her to the emergency room where she would get intravenous drugs. And when that didn’t work, the doctors would put her into a medically-induced coma.

That was our life. So this caused me to study a lot harder, but there was no relief for her. And everything we tried, all the drugs and everything just didn’t work.

By the time she was 18, the seizures had done so much damage to her brain that she was the mental age of a three- to four-year-old. At that time, she was on a special diet, one device, seven different anti-seizure medicines, of which we have no idea how they interact, with horrific side effects. Everything from cosmetic side effects like overgrown gums and excessive facial hair to the more severe side effects such as increased seizures, worsening and psychotic behaviors, liver failure, kidney failure. Horrible side effects.

And we really had no hope. I remember I was leaving work one day and I ran into my postdoc adviser in the hall and he just casually asked me how I was doing. Poor guy. And I burst into tears.

Now, I didn’t ugly cry but if there is a hell for postdoc advisers, I’m pretty sure it’s one of your postdocs bursting into tears when you're talking to them.

He said very calmly, he said, “You know, we should sequence Savannah’s DNA and look at her genes.” He goes, “We do that here in the lab. Now, we've done it. This is your job, Tracy. We've done it in families that have only had a family history of epilepsy up to this point, and Savannah doesn’t have that, but maybe we’ll find something.”

And I said something like, “Okay, that’s a great idea.”

So we did. We sequenced Savannah, myself, my husband and my son and we did the analysis and we didn’t find a damn thing. None of more than a hundred genes that had been identified at that point were mutated in my daughter.

This actually really wasn’t surprising. Those of us living with LGS are pretty used to getting our hopes up about a new therapy or a new test and then utterly being punched in the gut, again, by LGS when we don’t see any results from it. So we go through life with 1% cautious optimism and 99% yeah, this isn’t going to work so don’t get your hopes up.

But I kept at it. Every time a new analysis tool would come out by the scientists, every time I would learn something else about brain development, every time Savannah would have a particularly bad day and I was having difficulty coping, I would re-analyze her data. One day, I analyzed it in a way I now have deemed ‘Crazy-Mother Analysis’. I’m hoping that someone will claim that and rename it something different later, but very scientifically valid.

I took all of the mutations that she had that were unique to her and predicted to be altering her gene and her protein in some way. All of us are walking around with about 300 of these unique mutations. I took them and I grouped them into signaling pathways.

There was a specific signaling pathway that had a huge number of genetic mutations in it. It’s a calcium signaling pathway. What this pathway does is it let’s calcium go into and out of cells. In brain cells, it’s crucial for brain cells being able to talk to each other. Calcium goes in, electrical activity happens and brain cells talk to each other.

This immediately reminded me when I saw this pathway that every time that Savannah would go on the vitamin calcium supplement, she would have horrific seizures. Now, she always had horrific seizures so if I’m saying she's having ‘horrific’ seizures, these are really bad. So we got to the point where we wouldn’t allow her to be on calcium anymore.

And I begin to dig. We’re onto something here, something crazy, but still. I begin to dig in each of her unique genetic variance and I became more and more convinced that she had too much calcium going into her cells based on the data. Her cells were talking to each other. They were screaming at each other and there was just too much activity.

Tracy Dixon-Salazar shares his story with the Story Collider audience at The Little Nell in Aspen, CO in June 2019. Photo by Dale Ramos.

Tracy Dixon-Salazar shares his story with the Story Collider audience at The Little Nell in Aspen, CO in June 2019. Photo by Dale Ramos.

So the next question was is there any kind of drug out there that could quiet these cells, calm them down, decrease the amount of calcium that was going in? And I found in the literature that there was. There was an FDA-approved drug on the market. It was used for high blood pressure, not epilepsy. And it acted on several of the exact genes that Savannah had in her that were mutated.

I said we have to try this. We had really no hope. We didn’t really have anything that we hadn’t tried. At that point, Savannah had tried and failed 26 different things and we may as well just been throwing darts at a board because there was no rationale or no data for why we should try a 27th thing.

So I gathered up my data and I marched over to her pediatric neurologist’s office and I said, “We need to put her on this drug. Here’s the data.”

He says, “I don't understand any of this genetic stuff here but I’m on this drug for my high blood pressure,” which I probably gave him.

He said, “Yeah, this drug has been around for decades. We know a lot about it. It’s pretty benign. Let’s try it.” He said, “Let’s run some tests to just check her out and try it.”

So we put her on this drug and within two weeks, much to everyone’s surprise, especially ours, she started to get better. She went from having 75 seizures a week to having about two or three only at night. And those trips to the emergency room, those comas, those seizures completely stopped. So if you're near wood, knock on it right now because that’s just what we do.

We were dumbfounded. We were so afraid that this was not real or that someone was going to hear and then we were going to lose the control and be struck down by the LGS gods that we didn’t talk about it for a year. We didn’t tell anyone. The only people that knew were us and the family, the physician, not even my post-doctoral adviser knew and he had sequenced her.

We finally told him and he's like, “Of course. I wish I published this,” which is what every postdoc adviser says, right?

That was eight years ago. Savannah is 26 years old now and she continues to have a 95% reduction in all of her seizures and 100% reduction in her non-stop seizures that would send her to the hospital. And she's growing and developing again.

She is walking and talking. She just learned to buckle her seatbelt about two years ago, to ziplock-close a Ziploc bag and to use a key in a door, God help us.

While she still talks at the intelligibility of a two-year-old, she can talk like nobody’s business. Talk, talk, talk. This kid talks so much, sasses us, which we mostly love. All right, we love it. And she's growing and developing again.

If you had told me that after 16 years of daily, horrific, I just can’t even find the words to tell you how awful it was, seizures that the 27th thing that we tried would have changed our lives as much as it has, I would not have believed you. No way. But it happened.

Savannah’s story inspired her doctor and other researchers what could happen if you targeted a specific medicine to the gene.

And when I reflect back on this whole journey, people ask me, “How did you do it,” I don't know. I don't know. I didn’t see my husband for 12 years. I had the day shift, he had the night shift. He'd come home and he'd be like, “I’m your husband,” and I'd be like, “Show me some ID. I don't believe you.”

We made a difference. We helped some other families find their genes and, somehow in all of this, we helped our own kid.

I’m shocked. And I promise you everyone in my high school class who thought I was the least likely to do anything, is shocked.

Most of the time, I’m really grateful. This life that we have is so different. We venture out of the house sometimes now. We’re not prisoners anymore. I’m here. Savannah is so happy and really is living her best life.

But there are times, I try not to go here too often, I think what if. What if we had found this when she was three? Would she be typical? Would she not have suffered so much brain damage? She’ll never live independently now from all the brain damage but what if we had found it earlier?

If you think about it too long and too hard, you really shouldn’t have to get a PhD to figure out what’s wrong with your kid, and to do the research yourself to find the medicine behind the science, and then convince the physicians to try that. You really shouldn’t. But a mom’s got to do what a mom’s got to do and patients got to do what they got to do until science and medicine catch up, and we’ll just keep doing it. Thank you.