(Editor’s note – this has been translated from its original Spanish version, “Cuatro historias, un mismo propósito: Nuestras Visitas a CHOP.”)
About the ProMMiS study
The ProMMiS study, powered by CURE SYNGAP1, is a natural history study of SYNGAP1-Related Disorders that seeks to better understand how people with SYNGAP1 live and how their condition evolves over time. The study is open to people with SYNGAP1 of any age.
Each participating family contributes a vital piece to this puzzle. The ProMMiS study is conducted at three sites: CHOP in Philadelphia, CHCO in Colorado, and Stanford in California, and thanks to the participation of our families we are building knowledge that will benefit the entire SYNGAP1 community today and in the future.
💚 When families participate, we all get a little closer to treatments and better opportunities for our children.
🟦 Story 1 – Nathan’s Family
1. The journey
Our trip was positive, although we learned that flying earlier helps with jet lag. We were nervous because Nathan had to sit for almost five hours, but his behavior was better than expected. We brought small toys and a tablet; we even let him climb up on the seat a little so he could express himself.
The light on Dad’s side stayed on until he fell asleep, accompanied by his medication and yogurt. Even before leaving, we planned everything with his well-being in mind, so he would feel calm and safe.
2. Arrival and stay
We stayed at The Inn at Penn, Hilton Hotel: clean, excellent service, and a 10-minute walk from the hospital, which was key for us. Plus, there were several restaurants nearby, which made meals easy.
3. Study Day
Nathan woke up as soon as we put him in the car. Everything was very organized, including the wait for an interpreter. The therapists came in one by one, confirming the different aspects of the disorder and acknowledging the daily work we do at home.
It was a long day (around six hours), with moments of tiredness, but also of enjoyment. We allowed Nathan to move around freely; he was happy in the room with water and a computer, although sometimes he needed to go for a walk.
We especially thank the neurologist for taking the time to explain everything clearly. During the EEG, Nathan managed to sleep for about 20 minutes, a great achievement for us.
Snacks were essential: yogurt, gummies, spaghetti, fruit, cereal, lactose-free milk and his favorite toys (musical toys, a book-like turtle, hoops and a ball with lights), in addition to his banana to chew on and the tablet.
4. Why we decided to participate
Our goal was clear: to find a cure. We firmly believe that the more children participate, the greater the chances of achieving results that improve the lives of our children.
– Didiana, Mom to 6-year-old Nathan, Arizona
🟦 Story 2 – Amelia’s Family
1. The journey
This was our third trip to CHOP. We learned that traveling the day before is key for Amelia to get a good night’s sleep and arrive relaxed. A good night’s sleep makes a huge difference to the overall experience.
2. Arrival and stay
For Amelia, staying in an Airbnb near the hospital has been the best option, allowing her to explore without feeling overwhelmed. Last year we stayed in a hotel, which wasn’t a good experience: noise and lights from the hallway kept her awake. Her sensory and emotional well-being is our priority.
3. Study Day
We arrived around 7:30 a.m., ready for a 5–6 hour day. We always bring plenty of snacks. On one of the trips, we used an interpreter, and it was an excellent resource for those who need it.
The evaluations included occupational, physical, neurodevelopmental, neurological, and EEG therapy. On our last visit, movement studies and blood tests were added.
We had a short lunch break and were able to order from Panera. It was a much-needed break and a great joy to see Amelia finish her entire sandwich.
A very special moment was that for the first time in three visits, Amelia knew exactly what to do during the EEG. She performed it with great cooperation and enthusiasm, which surprised and touched us. Her transitions were very smooth, and what she enjoys most is the team’s attention and, interestingly, the latex gloves, which are her obsession. For her, going to CHOP is like going to Candyland with unlimited access to gloves.
4. Why we decided to participate
We believe that participation directly contributes to science, and as a Latino family, we also feel a responsibility: to be present so that research is more representative and inclusive. We do this for Amelia and for all the families who will come after her, with the hope of advancing toward treatments that improve quality of life.
💚💙💜Preparation and small details can transform a long day into a more peaceful experience for the whole family. – Victoria Arteaga, Mom to 10-year-old Amelia, Florida
🟦 Story 3 – Rosanna’s Family
Our visit as a family and our daughter Rosie’s participation in the SYNGAP1 Natural History Study at CHOP is extremely important because it helps us better understand how this condition evolves over time. Information from participants, including my daughter, helps doctors and researchers identify symptoms, real needs, and developmental changes, which is crucial for improving diagnosis, monitoring, and clinical management. Furthermore, participation contributes to the development of future treatments and therapies, which would benefit not only my daughter but also everyone affected by SYNGAP1 worldwide.
1. The journey
We left Texas the day before her appointment, which was essential because it allowed her to rest up and get up early for CHOP. We had a smooth 3-hour flight, thankfully without any delays. She loves flying, so one way to keep her occupied was by walking around while we waited for the gate. She also had her iPad and headphones with her, and she was happy with that.
2. Arrival and stay
Upon arriving in Philadelphia, a van picked us up at the airport and took us to the hotel, which was quite close. It was our second time staying there since it was our second visit to CHOP. Our arrival at the hotel was very smooth and without any problems. We took our things to the room and went out to eat. There was a restaurant across the street from the hotel with delicious food, and the hotel also has its own restaurant if you didn’t want to go out. Rosie felt happy and a little tired, but she was enjoying herself.
3. Study Day
The next day arrived, and at 7:00 we were at CHOP. A coordinator, who was already waiting for us, greeted us. We then went to a room where they made us feel comfortable and offered us water, coffee, and anything else we needed. They explained the schedule of the multidisciplinary team that would be seeing our daughter. This coordinated work among specialists allows for a comprehensive view of our child and a more effective care plan. We had neurological, genetic and developmental evaluations to better understand the condition and evolution.
The assessment of development and behavior was also important, as they analyzed cognitive, motor, language, and social skills.
A review of current treatments and therapies was conducted based on Rosie’s needs. Additional tests, such as EEG and clinical observations, helped document the natural history of SYNGAP1. The guidance and support received was greatly appreciated, as it provided a space to ask questions, receive recommendations, and understand the next steps.
We were there from approximately 7:00 AM to 2:30 PM. During our visit, Rosie and her sister were very cooperative, brave, and attentive during the studies. Her sister also had the opportunity to participate in another study. We had designated areas for meals; we brought snacks, but we could also go down to a cafeteria where we could buy breakfast and lunch. The staff was always very friendly and even offered interpreters if we needed them.
At CHOP, we were able to meet other families who had also come to participate from another state, and it was very nice to meet again with the same purpose.
4. Why we decided to participate
The evaluations ended, and we were able to leave, tired but happy to have participated. We stayed that night in Philadelphia and returned to Texas the next morning, intending to come back and continue collaborating on the research to find appropriate treatments and improve the quality of life for our loved ones.
– Merlina Davila, Mom to 10-year-old Rosanna, Texas
🟦 Story 4 – Francisco’s Family: An International Perspective
What can families who decide to participate expect?
CHOP is an impeccable organization. We were amazed at how prepared they are to receive patients with SYNGAP1; they know exactly what our children need. Kindness and support are the norm, not the exception, and they have an incredible ability to adapt to any unforeseen circumstances that may arise during the day’s evaluations
We have participated for two consecutive years, in 2024 and 2025. On both occasions, we felt equally well cared for. It is a huge relief to know that Francis is in the hands of experts who understand his reality.
If you have the opportunity, don’t hesitate. It’s a great human and scientific experience that’s worth every kilometer traveled.
1. The Journey
The journey was long: we flew from Buenos Aires to New York and then drove for about two and a half hours. Fran pleasantly surprised us; he was excellent and really enjoyed the scenery out the window. At the hospital, although he was awake the whole time, he was very well-behaved. He only had a little trouble adjusting to the physical therapy room because it was an unfamiliar place, which is completely understandable.
For his comfort, we brought his favorite cookies and muffins, which really helped him feel at home. As his dad, I traveled with Fran’s grandfather, and we felt very comfortable; the hospital even provided us with an interpreter to ensure we didn’t miss any of the explanations from the staff.
Don’t let distance be a barrier. With the hospital’s organization and support, the experience is entirely possible and very valuable.
2. Arrival and stay
The keys to success in Philadelphia: organization and time to adjust. We stayed at the Holiday Inn Express Midtown, a very convenient location. Our top recommendation is to arrive at least a day early so the kids can acclimate; it really helped Fran reduce his travel anxiety.
Upon entering the hospital, everything was very organized: we were assigned a room on the 10th floor with a whiteboard detailing each shift of the day. It was great to see the staff checking off each visit as we went along. The only challenge was the polysomnography; Fran refused to wear the helmet while awake, since in Argentina we usually do this test while asleep. The doctors were extremely understanding and didn’t force the situation.
If you travel, trust the medical team; they fully understand our children’s limits.
3. Study Day
Our roadmap with Francis:
We arrived at 7 AM and were finished by 2 PM; the process was even faster than expected. Fran had appointments with occupational therapists, physical therapists, and neurologists. The nurses were incredibly kind, even when they were taking her saliva sample with a swab.
To keep Fran calm, we brought his essentials: his Mickey Mouse, his iPad, and his communication device. Thanks to these, he was able to communicate with the doctors, who showed a dedication and compassion that impressed us. Although the physical therapy room felt unfamiliar to him, his behavior was excellent throughout the entire day.
It’s a highly recommended experience. Go prepared with what they love and trust the team!
4. Why we decided to participate
Research is the only bridge to a real treatment for SYNGAP1. We decided to participate in CHOP because we know that, in such little-known diseases, information is power. Donating our time and Fran’s expertise helps scientists better understand the pathology, accelerating the timeline for clinical trials.
My advice to families is to participate whenever you have the opportunity. Don’t just think about the individual benefit; consider that every study we participate in helps the entire community take another step toward a better quality of life. Getting involved in scientific studies is the best way to help our children.
– Claudio Diaz, Father of 11-year-old Francisco, Argentina
Participating in ProMMiS is much more than a medical trip. For our families, it represents commitment, learning, and hope. Each experience is different, but they all share the same goal: to contribute to research as a minority group to improve the quality of life of our children and bring us closer to effective treatments.
General recommendations for families visiting CHOP
- Arrive early to reduce stress and facilitate adaptation.
- Bring snacks and plenty of water; there are vending machines, but familiarity always helps.
- Bring a blanket or throw to sit on the floor, move around, or exercise between assessments.
- Don’t forget their favorite items: toys, books, sensory objects, and their iPad or tablet.
Interested in participating?
- You can request reimbursement of up to USD $1,000 for travel expenses. Support is available through CURE SYNGAP1 . View our policy here.
- To make an appointment, go to https://cureSYNGAP1.org/ProMMiS/ choose the site you wish to visit, follow the registration instructions, and copy paulina@cureSYNGAP1.org in your registration email.
- If you have any questions, please email paulina@cureSYNGAP1.org
