In this video, Mark and Lynn Schaffer share the inspiring journey of their daughter Story, who was adopted at the age of 13 and later diagnosed with the rare genetic disorder SYNGAP1. They describe her early struggles with epilepsy, global developmental delays, autism, and severe anxiety, as well as the progress she has made through therapies and the love of her family. Despite daily challenges—including seizures, intellectual disabilities, self-injurious behaviors, and the need for lifelong care. Story continues to bring joy, laughter, and hope. The Schaffers highlight the urgent need for SYNGAP1 awareness and research, emphasizing the vital role of the Syngap Research Fund in advancing treatments and working toward a cure.
Below is a transcript from the video:
Mark Schaffer
[00:00:01] We’re Mark and Lynn Schaffer. It was August 30th, 2016, and we had no clue that we were thinking the same thing at the exact same moment in time.
Lynn Schaffer
[00:00:13] I was sitting at our dining room table. We homeschool, so I was working on school with our kids and it was going really well. And this picture had popped up on my computer screen with an adoption summary and the picture caught my eye because I couldn’t get past the hollow, sad, empty eyes that were there. But I couldn’t tell from the picture whether this was a boy or a girl. And the write-up said she was mute and was bullied in her orphanage. My heart was pricked, but I didn’t think Mark would go for it because he never wanted to learn sign language. So I tried to push her from my mind, but within a few minutes my phone went off and it was a text from Mark. He had copied and pasted her entire write-up into that text. I knew exactly who he was referring to because I had just read her write-up. As we read her sad story, we learned that she was fearful and had difficulty walking. And because of her condition, the other kids in the orphanage bullied her. The fact that Mark contacted me and the fact that we both saw the same write-up at the same time in two different states, the fact that we both felt independent of each other, that we needed to bring her home, each of these things made me realize that there was something to this. Only God could orchestrate something like that.
Mark Schaf
[00:01:53] As we both worked through the adoption summary of this 12-year-old girl in Asia named Maggie, all we could see was hopelessness in her face. Our kids actually commented, ‘Mom, Dad, she looks so sad’. One fact, though, was staring us right in the face that this girl in the adoption system was about to age out. We had to do something. That night, Lynn and I, together, we went to see the movie: The Insanity of God. And though there isn’t a one-to-one correlation here, the overarching theme of the movie… really drove home the point that urgency to act now, regardless of the cost, regardless of the pain that might come with an adoption like that. We knew we had to act.
Lynn Schaffer
[00:02:42] We decided to start the adoption process specifically to bring her home, and we decided very early to name her Story.
Mark Schaffer
[00:02:52] When we finally met Story, she was 13 and a half years old. On that very first day, we couldn’t help but notice how afraid and incapable she was of just the most simple of tasks. She was bent over. Her chin was plastered to her neck. She was turning away from us. She was in extreme fear. Within the first few minutes, she had a seizure. Story had poor body awareness. It was as if she didn’t realize she had two hands and two feet. At the age of 13, we were teaching her how to clap her hands. She couldn’t dress herself. She couldn’t feed herself. She couldn’t even handle personal care. We needed to help her with everything. It was kind of funny. We would hand her a pen, a little push-button pen, and she didn’t know how to operate a push-button pen. It took her two weeks in the hotel to develop the courage to finally touch the down arrow of the elevator. As we would go out from the hotel, we would see how difficult it was for her. Her gait was so awkward. We both gripped hold of her arms to hold her up to keep her from falling as she was having seizures.
Lynn Schaffer
[ 00:04:12 ] With each new day, we began to see glimmers of hope and happiness in Story. She was beginning to trust us and to feel more secure. She had found a new happy place, and that was her hotel bed. When we were away during the day, she’d be very fearful. But as soon as we got to the hotel room, she got a big smile on her face and she would run to her bed. She would hop on her bed and love to hit balloons around with us or she would just throw herself back and roll around in the soft blankets, which was something that she never had before. The flight home, the story was very difficult. By that point, her legs were so tired, she kept having seizures, and we had to hold her up. So finally, we were able to get a wheelchair for her. And then when we landed at the second airport, she was having rapid fire seizures and doing so poorly. I finally sat in the wheelchair and just held her on my lap because she could hardly keep going.
Mark Schaffer
[00:05:18] A good friend of ours arrived at the airport, picked us up in New York, drove us back to Pennsylvania. That seizure activity that Lynn just described continued as we were here at the house. And then, for a Story’s sake, we just sat her down on the floor with her brothers and sisters. They loved having her sister home and they just played with her there on the floor. As the weeks progressed, stories transitioned, continued to go well, but there were also some red flags that we’re beginning to see. There were serious delays. There were health concerns. We were beginning to notice outbursts of anger, self-harm, and aggression. Her seizure count, if you were tracking it at that time, was ranging between 50 to 100 seizures per day.
Lynn Schaffer
[00:06:13] We expected Story to have delays. Coming out of an orphanage, most children developmentally are half their chronological age or less. So we were hoping that maybe Story would be developmentally about the age of a five or six-year-old. However, after having her first medical evaluation, it was determined that at the age of 13 and a half, Story’s cognitive skills were the same as an 18-month-old. Her gross motor skills were the same as a 24-month-old, her fine motor skills were the same as a 12 to 18-month-old, and her visual motor skills were the same as a 24 to 36-month-old. Some of her earliest diagnoses were epilepsy, severe emotional disturbance, global developmental delays, and muteness. Due to her difficulty walking, we had to get a wheelchair for her to use whenever we were away from home.
Mark Schaffer
[00:07:17] Early on, Story began both occupational and speech therapy. As we worked through these challenges, we saw a lot of progress. One of the funny things that we laugh now about is it took a year of us putting Story on a stationary bike and moving her feet and her legs back and forth so she had the concept of what it was to pedal a bike. We were fortunate that we received a grant, and now Story has this huge bike, two wheels in the back, one wheel in the front, and we’re working on steering now. She’s doing really well. However, she has no concept or desire to brake once she gets pedaling.
Lynn Schaffer
[00:08:00] The doctors at Children’s Hospital of Philadelphia recommended that we have genetic testing. The first set of Story’s genetic testing did not show anything, so we continued testing and did exome sequencing. Finally, in July of 2019, we got the call that they had a diagnosis for Story. She was diagnosed with Syngap1. At the time of her diagnosis, there were only 403 people that were known to have Syngap1 in the entire world.
Mark Schaffer
[00:08:35] Syngap1 is a genetic syndrome that causes autism and seizures. It is a complex neurological disorder of brain development due to a lack in the proper level of the Syngap protein. At a normal level, this protein enables brain cell communication. However, Syngapians have about only 50% of that normal level. Symptoms among Syngapians vary. For Story, what it looks like is this. She has epilepsy, global developmental delays, intellectual disabilities, level three autism, sleep disorders. She is nonverbal and possesses severe behavioral and self-injurious challenges. Story will need care the rest of her life.
Lynn Schaffer
[00:09:25] So many times when we’re away, people see the fearful side of Story, and I wish sometimes they could see what we have at home. Story loves to be silly. She loves to happily pick on her siblings. She loves bubbles and balloons and coloring and painting. She loves building towers and knocking them down. She loves babies. She loves riding her bike. She eagerly looks forward to swimming in the summer. So she’s really a fun, a fun young lady. But there’s also the side of Syngap1 that is very difficult. Currently, Story is on eight different medications. That equals out to 21 pills a day, and that’s divided up over three times a day. Story is not capable of keeping track of her doses, of when to take medicines, or to tell us if she already took them.
Mark Schaffer
[00:10:29] Along with monitoring all of the prescriptions and medical appointments, there’s the daily challenge of trying to help Story work through severe self-injurious behavior. What often appears to be willful defiance or disobedience is actually simply Story’s inability to cope with the situation physically, physiologically. She can’t handle what we typically just walk through in our day-to-day life. Also, she doesn’t recognize danger. A hot cooktop, you know, she’s ready to touch. She’s walking down our driveway, out into the street, not realizing the dangers of being hit by a car. As she’s swimming, she flops around in the water. She doesn’t know how to even hold her breath. She doesn’t grasp the concept of potentially drowning. She’s a collector and she collects papers around the house. That can be a little tricky, though, as we homeschool. She can’t distinguish between what is scrap paper or a coloring book and what is a child’s, a sibling’s math assignment. We have to be very careful. That turns into an art project. She’s cutting, she’s gluing. And her brother or sister isn’t too pleased after that. Story needs help with everyday self-care.
Mark Schaffer
[00:12:20] She can’t brush her teeth. She can’t brush her hair. She can’t dress, toileting, baths, eating. All of these things require Lynn and I to both be right there, you know, hand over hand brushing teeth and helping in so many different ways. The fear and anxiety level is difficult to manage. She runs high with fear and anxiety, and that makes it so difficult to do the doctor’s appointment, to do therapy outside of the house. We actually now have four therapists coming to our home. Doing ABA speech and music therapy. That totals about 16 hours a week. And if that were outside the home, that would be an impossibility. So we’re very thankful that it’s in the home. With this fear, it’s also very difficult for us to plan out a vacation. To do a dinner out with friends, to attend weddings, to go hiking, even attending church. It is very challenging and we need to plan out each step as we think about those activities.
Lynn Schaffer
[00:13:33] Story struggles a lot with transitions— any transitions. That can be getting in a car, getting out of a car, going into a building, going from one room into a different room. She could be entering a room and, if something is moved to a new spot in that room, that can be enough to make it very difficult for her to function. Due to the care that Story needs, it’s very difficult for me to go away. If I go away, she will often cry and just over and over again, she’ll say, ‘I want mama, I want mama, I want mama.’ She can only say two sentences. One is, ‘I want mama,’ and the other is, ‘I love you.’ Besides those, she can say a couple words. Those are mostly said with vowel sounds. To communicate, she uses a lot of gestures, a little bit of sign language, and she has a communication device.
Mark Schaffer
[00:14:32] Story is a beautiful young lady. We see this in her passion and joy in life. She loves to do arts and crafts. She loves to be on her bike. She loves to swim. She loves to hang out with her sisters. All of this is great for a toddler, but Story is now 19, and that’s what makes Syngap1 a terrible disease. Syngap1 wreaks havoc every day in her life, and robs her of many of the opportunities that we all share in. Story will never graduate, she will never drive, she will never marry, and often, as it is now, she will be excluded or ignored. We mentioned that when we first received the diagnosis back in 2019, there were only 403 Syngapians identified. That number today has grown to over 1,200 due to the availability of genetic testing. We want to raise awareness about Syngap1. We see story not as being a mistake, but being purposefully formed by God. We are blessed to have Story in our family. She brings us so much joy. There’s so much richness that she contributes to our family. But that doesn’t change the fact that Story suffers with SYNGAP1. As her parents, we will do all that we can to collaborate with others to ultimately help Story and other Syngapians. We’re partnering with SYNGAP Research Fund and asking you to contribute to our goal of $10,000. $10,000, 100% of which will go to research. To help those who struggle with SYNGAP1. There’s no overhead costs. None of that money goes towards salaries. We receive none of it. 100% goes to research. That $10,000 is tax-deductible.
Lynn Schaffer
[00:16:39] Story has made incredible progress since she came home. When I compare the photos from the day that we first met her to six months later at her first birthday being with us. The difference is astounding. We got her on Christmas Day of 2017 and when I compare those Christmas pictures to Christmas in our home a year later. Again, the transformation is just absolutely amazing. She possesses skills today that we didn’t think were possible five years ago. So she continues to make progress, but the reality is Syngap1 is a terrible disease and she can only progress so far. What we really need is research to be able to help find a treatment or a cure.
Narrator
[00:17:36] For Story’s 19th birthday, please consider giving to help fund research to find treatment and a cure for Syngap1. You can give at syngap.fund/story19. When we help those with SYNGAP1, that knowledge can then be used to help people with many other genetic conditions. Our goal is $10,000, but honestly, we’d love to go way beyond that. To those who have walked this journey with us since we first saw Story’s photo, and to those who are hearing about Story for the first time, thank you for walking this path with us and for your interest in Story and in Syngap1. Your giving, encouragement, and prayers mean so much to us. We appreciate you all.