Contributors to this post include Sara Driscoll, mom of SYNGAP Warrior Mora, and SRF’s new liaison to CHOP; Jaclyn Sliger, mom of SYNGAP Warrior Eli, and Tennessee State Ambassador for SRF; and Rachel Frayne, mom of SYNGAP Warrior Gracyn, age 8
Before you read about what to expect at CHOP and in Philadelphia, please take a moment to review our ENDD Travel Assistance Program for information. Also, please read more about ENDD at https://cureSYNGAP1.org/endd/.
SRF is endeavoring to keep a pulse on the community’s participation in this study. Please consider sending an email to Sara (SDriscoll@cureSYNGAP1.org) and Lauren (Lauren@cureSYNGAP1.org) to let us know what dates you’ve booked your study appointment. If you have not yet signed up to participate in the Natural History, you can email endd@chop.edu (please also cc Lauren and Sara) with your child’s name, age and location.
The CHOP Natural History Study (NHS) has officially turned one year old!
Starting in the summer of 2023, CHOP has been conducting a natural history study on SYNGAP1-related disorders, a rare genetic condition causing developmental delays, intellectual disability, and epilepsy. The study tracks patients with SYNGAP1 mutations over time, collecting medical data, cognitive assessments, and neurological evaluations. This research aims to improve understanding of the disorder’s progression, identify biomarkers, enhance diagnostics, and guide future treatments.
The team includes a neurologist, a geneticist, physical therapist, occupational therapist, and a developmental pediatrician. The clinic is open every Thursday to see Syngapians and now is offering Friday visits for follow ups! Please email ENDD@CHOP.edu in order to schedule your appointment a few months in advance.
Over the past year, Sydney Stelmaszek has been an exceptional liaison between CHOP and SynGAP Research Fund (SRF). Her dedication to facilitating communication, coordinating research efforts, and managing resources has been crucial in advancing SYNGAP1 studies. SRF deeply appreciates her commitment and the positive impact she has made in this important field. As Sydney prepares to leave her role, her contributions will be fondly remembered and Sara Driscoll will have big shoes to fill continuing this vital work.
In the past year, the ENDD study has been bringing SYNGAP1-RD families together. Among them are the Sligers and the Fraynes, two families who recently visited the clinic on the same day! Their experiences at CHOP not only highlight the challenges we face, but also the hope and community fostered within SRF and this Natural History Study.
Our Travel To Visit CHOP
Jaclyn Sliger: Our family was so excited to get an appointment for Eli at the ENDD clinic at CHOP! It was an amazing opportunity to have him be a part of the natural history study. I simply can’t say enough good things about this team and the work they’re doing!
We flew into Philadelphia from Nashville and decided to rent a car at the airport. We went through Hertz and it was a seamless process and relatively quick. There are several other rental companies there at the airport to choose from as well. From there we drove into the city to our accommodations. We stayed at Homewood Suites University Center which is a short one mile trip from the hospital. The suites have a full kitchen, sitting areas, and very spacious rooms. A huge plus of staying at this hotel is that they offer a shuttle service that runs daily between the hotel and hospital. They also offer a discounted rate if you let them know you are there to be seen at CHOP.
Rachel Frayne: This was Gracyn’s second visit to the ENDD clinic at CHOP. Fortunately, we live in NJ and the drive in takes about 2 hours so both times we just drove in for the day. My advice for anyone who drives in just for the day is to make sure you factor in roughly 30 mins extra for construction and traffic getting into the city. It’s not a bad ride at all until you get closer to the city so if your Syngapian doesn’t mind car rides, a day trip is totally manageable. Gracyn loves the car so for us it works out very well.
All things Philly!
Jaclyn Sliger: We opted to arrive in Philadelphia a couple of days before Eli’s appointment so we had extra time to explore the city … and explore we did! For our first meal in Philadelphia we ate cheesesteaks at Jim’s (Delco location) and oh my goodness! Let me just say that I can see why Philly is known for their cheesesteaks! Hear me when I say…get the cheese whiz on your sandwich! So good!
With cheesesteaks checked off our list we headed to the Old City District. While we explored other areas of Philadelphia, this was by far our favorite part of the city. It was very walkable. The only thing I would be aware of about this area is that there are some spots that might be difficult to push a stroller or wheelchair because of the cobblestone streets and paths. There are sidewalks around those areas, but you might have to take some extra steps to get to them. (Which burns off the extra calories from the cheese on your cheesesteaks! It’s a win win!)
If you are a history buff, you will love this area of the city as much as we did. It is incredibly rich in American History. We got to see the Betsy Ross house, Ben Franklin’s grave, Elfreth’s Alley, Independence Hall and Carpenters Hall. I kept getting goosebumps from standing in some of the same places that our country began. We had hoped to go to a museum, but Eli was done and just not feeling up to it. You all know when your Syngapian hits that wall it’s best to call it a day! We will definitely try to hit up some of the museums when we go back to CHOP for our follow up visit. If it’s feasible to add a day or two onto your trip, in my opinion, it’s absolutely worth it. Philadelphia is a vibrant and diverse city worth exploring and experiencing!
Rachel Frayne: Since we only drive in for the day, we usually do not hang around for too long after the clinic. A trip to Philly is not a trip to Philly for our family unless we stop at one of the famous cheesesteak restaurants: Pat’s King of Steaks or Geno’s Steaks on East Passyunk Ave. They are right across the street from one another so sometimes we get some from both and take the rest home! As Jaclyn already stated, you must try one with whiz on it…you will not be disappointed! Gracyn is a big fan of them and is always happy to eat one on the drive home.
In the Clinic
Jaclyn Sliger: Appointments start early at CHOP! Be prepared for an early start. Think carefully about what your Syngapian might need for a full day at the clinic. I would consider packing drinks and snack items, toys, and your child’s favorite device(s) to keep them occupied. The clinic has vending machines and a few places to grab lunch, if you prefer not to pack food. Rest assured that the team will work with you and your child! They will allow as many breaks as needed and they keep your child’s needs and comfort in mind at all times.
Ok! Now to discuss traffic! Make sure to prepare for adequate travel time to the clinic. Traffic in Philly can be heavy at times and really serve to slow things down. The night before our appointment the navigation system said we would have a 6 minute drive. The morning of our appointment the navigation system told us it would be a 17 minute drive. Travel times can change quickly! We were expecting this though and had already planned to leave the hotel with plenty of time to spare. The ENDD Clinic is located across the street from the hospital in the Buerger Building. If you decide to rent a car they have plenty of parking in their underground parking garage.
From the parking garage we checked in at the lobby and hopped onto the elevator and headed to the 10th floor. We arrived about 20 minutes early and they were able to take us back shortly after we arrived. We were brought to a room, and outside of the EEG and a lunch break, that’s where all the appointments were held. It was very convenient to stay in one place all day instead of having to gather everything up and lug it from room to room.
The team at the clinic is fantastic at communicating and laying out the day. They even had a chart on the back of the door that listed each appointment. As the doctor or therapist completed the appointment, they checked their name off the chart. It was really helpful to have a visual tool to see how the day was progressing.
For our son, PT was the first appointment. This felt like a game to him and he had great fun jumping, running, and completing the tasks he was given. Same with OT which was next. They were wonderful at making everything seem like a game. They kept everything upbeat, positive, and fun! Next we met with a developmental pediatrician. This appointment was very informative. For those that don’t have an autism diagnosis yet, your child can be screened during this visit. I know waitlists in our area for autism screenings can be over a year, so for that alone it’s worth a visit to CHOP.
After that appointment we all needed a little break so we headed downstairs for lunch. It was raining the day of our visit, so we ate our lunch inside; however, they have a really great outdoor area where you can eat, if you’d prefer. If you visit on a pleasant day and you think your Syngapian will be ok transitioning back indoors, it would be nice to go outside a bit. Some fresh air and sunshine could really help break up the day!
After lunch we headed back upstairs to meet with the geneticist. We were very eager for this appointment. While our son’s neurologist had gone over the genetic report with us, there was still so much that felt over our heads. It was fantastic to be able to ask all the questions we had. They answered each one and did a really wonderful job at explaining things in a way that we could understand.
All of us with SynGap kiddos know the best bet is to expect the unexpected! And this is where our unexpected happened! There were several people in the room for the geneticist appointment and Eli sometimes gets overwhelmed in “crowds.” (it didn’t feel crowded to me, but I think it might have to him.) Another thing that makes him feel overwhelmed is if there’s a lot of medical talk going on. When that happens Eli will often get lightheaded to the point of fainting. After regaining consciousness he begins to throw up. All of us in the room noticed that Eli started to get very pale and began sweating. The genetics team was so kind and helped Eli to lay down, got him a cool towel, and a ginger ale to sip on. Their quick action helped us prevent a fainting episode. We are so grateful to them for that. They never rushed us or made us feel like we were taking up too much of their time while we tended to him. The team there truly understands that our children have a different set of needs and behaviors.
After that appointment was over we met with research and filled out a couple of quick forms. At that point, Eli had bloodwork done and my husband (Eli’s dad) and I gave saliva samples for research purposes. Not everyone needs to do bloodwork or saliva samples, and if you are asked it’s 100% optional. We readily agreed to it though, because we had already decided that we were all in on whatever was asked of us.
After that, it was time for the EEG. This EEG was easy peasy compared to the traditional ones. Everything is already connected to a cap and just fits onto the patients head! NO MESSY GLUE or having to lie still while they get those probes on just right! The EEG process took about 20 minutes total. After that we were all done! It was a long day, but it was so very worth it.
Rachel Frayne: Where to begin. The first thing that I can say is after already having the first visit under our belts, we knew what to expect and frankly were super excited for this appointment. I cannot put into words how incredible the first visit was to the ENDD clinic. It was the first time in the 5 years of Gracyn’s diagnosis that I felt like we were understood and people were there to help us and not just listen while we explained Syngap to them. It was simply like being ‘normal’ and taking your child to a regular checkup appointment. It’s amazing how such a normal-type moment can mean so much more to a family with a rare disorder.
Every single doctor and specialist is amazing. They are patient, kind, knowledgeable, understanding, willing to help, eager to learn – and they get our kids. You don’t feel rushed, you don’t have to explain when your child wants to run out of the room as there is someone there to watch them while you continue the conversation with the doctor. I left that first day at CHOP and called everyone close to me to explain every moment of the day and before I knew it, I was home from the 2-hour car ride! It was incredible. I could go on and on about the first day experience but since Jaclyn did an amazing job explaining Eli’s first day, I will tell you more about our second visit.
For the second visit to CHOP, we knew about the traffic coming in and out of the city so we accounted for extra time. We got there a little before 8:00 and checked in. We didn’t even have enough time to go to the restroom before they were calling us into the room. They are so good about getting you to your room as quickly as possible. I made sure to bring lots of Gracyn’s favorite snacks, drinks and toys for the stay. She prefers to sit in the stroller most of the day during the appointments, which makes it much easier for all of us. Since I come by myself, it’s a great way to lug everything in.
The appointments went much quicker this time around since you do not have to give as much back story and information as you do on the first visit. The doctors will ask for any updates as well as perform the same little tests on your Syngapian to see what the progress is.
Gracyn did very well for the most part during all of the tests. The Bayley test [an assessment to test development in cognition, language, motor, social-emotional, and adaptive behavior skills using development play tasks] took longer this time which actually was a good sign because that meant she got further than the year before and was showing nice signs of improvement. By the end, there were some lucky guesses as she was just done but she did awesome.
The EEG was new for Gracyn this visit. She usually does fairly well for the regular EEG electrodes so I figured she would do well with this new cap, but she was actually more afraid of it than the regular EEG’s. It’s funny how that backfires sometimes. You would think because this EEG cap is so quick and easy to put on that they will do much better but she actually wrestled me more for this one – go figure. I will definitely be trying out some desensitizing strategies for the cap for the next visit.
Besides talking with all the wonderful ENDD clinic team members who are all absolutely amazing and can’t say enough great things about, my favorite part about these visits is meeting other Syngapians and their families. We briefly met one Syngapian and her mom but it was in the middle of a session so it was a quick hi and bye unfortunately. We did, however, get to meet Eli, Jaclyn and Matt and spend a little time together before we left. I know I could talk forever to other Syngap families about everything under the sun so I wish we had more time with one another but we will take every moment we can. What a blessing that is. Until next time CHOP!
Takeaways
Jaclyn Sliger: I had tears in my eyes as we left because from start to finish you can feel that everyone’s heart is fully in this project. Each person we encountered inside the clinic cared, truly cared, about our Syngapians. Eli felt it too because he called for a group hug as we were saying our goodbyes! Every single one of us knows the thought that keeps us up at night. That thing you’re almost scared to say out loud because saying it makes it real…”Who will take care of my child one day when I’m gone?”
I can feel the tears welling up in my eyes from just typing out those words. It’s not something anyone should have to worry about, but each of us in this Syngap community carry it every day. It’s tucked into the back of our minds. It’s there constantly gnawing at our thoughts. We left CHOP feeling so hopeful though. Hopeful because we know studies just like this one will lead to a treatment or cure for SYNGAP1. Hopeful that one day we won’t have to ask ourselves that dreaded question anymore. Treatment is closer than ever before! It’s happening, friends. And we each have a part to play in it.
Rachel Frayne: Participating in the ENDD clinic at CHOP truly means everything. A sense of belonging, a sense of community, hope, an avenue for treatments, understanding, empathy, love, compassion, and a weird sense of freedom to not have to try and make your child act or behave in a certain way that is socially acceptable. I leave CHOP every time with a lot more hope and encouragement that the Syngap community is that much closer to treatments and a potential cure.
Helpful links to learn more about ENDD/CHOP and participation in the Study can be found here!
Need financial assistance? – ENDD Travel Assistance Program
¿Necesita ayuda financiera? – Programa de Asistencia de Viaje ENDD en Espanol
Flying with your Syngapian is difficult – consider Angel Flight as an option to a flying commercial.