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.
This story originally aired on August 21, 2019 in an episode titled “Power of Patients.”
Story Transcript
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.”
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.
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.