What to Expect when You’re Preparing to Visit the SYNGAP1 Natural History Study

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/

Programa de Asistencia de Viaje ENDD en Espanol.

SynGAP Research Fund is able to reimburse families up to $500 when driving, or $1,000 when flying, on qualifying receipts. If you have questions or plan to request travel assistance, please email sydney@curesyngap1.org and lauren@curesyngap1.org. Additionally, SRF is endeavoring to keep a pulse on the community’s participation in this study. Please consider sending an email to Sydney and Lauren 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 Study, you can email endd@chop.edu (please also cc Lauren and Sydney) with your child’s name, age, and location.

Our drive to visit the SYNGAP1 experts at CHOP

The five hour drive from Pittsburgh to Philadelphia has become a staple for our family since relocating to Pennsylvania. I know which stops have the snappy Starbucks lines (and the ones that don’t), the ones with keto food options, and the stretches of road with the worst internet connectivity. Although it’s not an exciting drive, I always come away from our visits at CHOP with the reassurance that I’ve received some of the best medical care in the world for my child with SYNGAP1.

Emmitt has been a patient with Dr. Helbig’s ENGIN team and the ketogenic clinic for over two years now. In that time, they’ve seen him thrive, seen him flounder, and have given us wisdom to supplement that of our local care team which only sees a couple of Syngapians. By comparison, Dr. Helbig’s team has seen several dozen in all stages of life. Even better, Dr. Jillian McKee is an expert in everything Syngap and now works with Dr. Helbig to help provide expert neurological care to our patients.

You can imagine our family’s delight when we learned that our deserving team at CHOP would be conducting the SYNGAP1 Natural History study as part of the newly established ENDD Center. We made the trip to Philadelphia once again last week to be patient 001 of the study. Below you’ll find some information about what to expect if you are making the trip yourself!

Welcome to Philadelphia!

CHOP will provide you with a welcome packet of information. Within, you will find a list of Philadelphia hotels that offer a discounted rate to CHOP patients. You can also find that list here. We ended up staying at the Sheraton Philadelphia University City Hotel. We took advantage of the discount ($18 parking in Philly!), and they even upgraded us for free to a King Suite. That was perfect as Em had the whole living area to set up his travel safety bed and sleep in peace. This hotel is also a two minute walk from Dig restaurant, where I went to pick up some dinner that actually grew out of the ground after a day of gas station meals.

Parking Garage for the Buerger Center, where your appointment will take place

Civic Center Boulevard lives in an endless loop of construction, and we may find a cure for Syngap before it is complete. Have a nice strong coffee before heading out for your appointment, and keep your eyes peeled for this sign. It will be on your left immediately after the actual Buerger Center, which is distinguishable by its multi-colored levels.

In the clinic

Our time in the clinic lasted about 6 hours and started with a full-blown aggressive meltdown. I can’t blame Emmitt; the Buerger Center has some awesome elevators with a view of the city, so they are very hard to leave. Although our clinic room was full of clinicians watching Em breakdown and get aggressive, I knew they were all on our family’s side. They did everything they could to help calm Em, keep him comfortable, and to prioritize his happiness.

Many of us are already familiar with assessments which are half observing our child and half asking the caretakers a gazillion questions. This was no different. Em had his iPad, so he got to relax and watch shows while we gave an update on his medical history and answered some of the assessment questions. There is also a garden on floor 6 that you can pop down to if you feel like your Syngpian could use some fresh air.

Em participating at the clinic in one of the assessments

He did a few activities with one of the therapists, and I was reassured that being uncooperative wasn’t necessarily a problem. The neurologists, coordinators, and therapists have all seen enough of our kids to know what Syngapian behavior can be, both at its best and at its worst. I didn’t feel any need to explain why he was acting a certain way or to make him participate in ways that he did not want to. It’s possible that those coming after us will be participating in EEGs, additional tests, or that parents will be asked to give saliva samples as the study matures. 

Takeaways

Overall, our participation felt much like any other appointment where multiple things were being tackled at once. It was long and involved some waiting, but that provided plenty of downtime for Em or a run to the cafe in the building. Another thing to keep in mind is that this study is set up as a research and clinic visit. That means that you are free to ask the team about your child’s care, everything from neurological care and medications, to ketogenic diet, to speech and occupational therapy. This was a huge benefit to us as we asked Dr. Helbig to weigh in on some recent medication changes that were going poorly for us. During one of our waits, we asked the coordinator if we could visit the Syngap family next door, as we knew that there are two slots for Syngap patients each clinic day. Please feel free to ask the coordinator if you can do the same on your visit day; you’ll be so happy you did!

Patients 1 and 2 in the SYNGAP1 Natural History Study, July 2023

A couple more ideas for your visit to Philadelphia

Flight Assistance with PALS SkyHope: Pals has indicated that flights for families which live more than a 2 hour drive from CHOP are eligible for assistance from them. Most SkyHope flights are on small aircraft which seat 4-6 people, though they do have some commercial options. Please contact Vicki Batz (victoria.batz@palservices.org) with your child’s name, age, address and the date of your appointment at CHOP.

Things to do in Philly: The Philadelphia Zoo and Please Touch Museum come highly recommended by local families. For a discounted rate of $15/ticket at the Please Touch Museum, reach out to Aaron (267) 449-7461 and indicate that you are part of the CHOP ENDD study,

Additional Information

Natural History Study at Children’s Hospital of Philadelphia is a Natural Win for SRF!

SPECIAL WEBINAR: $25M Gift to ENDD for SYNGAP1 and STXBP1

STXBP1 and SYNGAP1 Natural History – Reflections after Day 1 of ENDD Clinic