Beata Tarasiuk is a SYNGAP1 parent, SRF’s State Ambassador to Arizona, and the International Ambassador to Poland. Details about the study at CHCO can be found here. All photos are courtesy of Beata.
Ever since Children’s Hospital of Philadelphia (CHOP) began seeing patients for their SYNGAP1 Natural History Study, I’ve felt a deep responsibility to both the scientific and SRF communities to ensure our family participate.I know it’s extremely important to have our children with SYNGAP1-related disorders (SRD) take part in these studies, and making sure my daughter is included in this consequential work is a priority for me.I want scientists to study her particular variant and her case as much as possible, knowing future treatments will be based on the knowledge they gain about our Syngapians.
Our family lives in Tucson, Arizona, but even though CHOP is far from us, we were determined to make the trip. I knew I would be going alone with our daughter with SRD, as my husband would have to stay behind for work, and take care of our 3-year-old, but not going wasn’t a choice for us. As we began working out the details, we learned of a new site for the study at Children’s Hospital of Colorado (CHCO). This new, closer location meant the trip was going to be a direct and short flight, so I knew it was time, and I signed up.
While preparing for the trip to CHCO my curiosity about the visit began to grow. Prior to our visit, I had never been in an environment where medical providers knew about SYNGAP1, let alone were actively studying it. I am used to being the one educating my daughter’s team of doctors and therapists about SRD. I provide the latest discoveries, and it’s always been my responsibility to make sure her doctors are well informed. I began to wonder how it would feel to go somewhere where I could support my daughter without having to educate everyone around us about her diagnosis. Let me tell you, it was a nice feeling! While the model is collaborative between clinicians, patients, and caregivers, and everyone participates in the decision-making, it was wonderful to be the expert on my daughter in a place filled with experts on SRD.
As our visit grew closer, I began to have some anxiety about the trip. While I’ve traveled with Kasia many times – even internationally – I’ve never done it alone. In theory, I knew I could do it, but I was still anxious; I’m not great with directions, and became worried I might get lost navigating the facility and surrounding area while alone with my daughter.
While the trip ultimately went well, doing something for the first time is always a little uncomfortable and it’s normal to feel scared or worried. This is why I want to share my experience, in the hopes it helps reduce some anxiety for another SYNGAP1 family considering making the visit to CHCO. I’ve created a little practical guide that may help new study participants feel more at ease. The truth is, those of us who plan to participate in clinical trials will likely have to face our fears, travel, and break barriers. This is great practice for the future as well.
I hope this guide helps someone overcome their fears, and inspires them to take their child or a loved one to CHCO or one of the other two ProMMiS sites at CHOP and Stanford.
Getting Started
Your first step is to email the clinic at syngapclinic@childrenscolorado.org and let them know you’re interested in participating in the SYNGAP1 Natural History Study. You will receive a list of things to do, including documents to gather; one of them will be a referral from your current neurologist or pediatrician, along with a pre-authorization from your insurance company. In the meantime, you will gather the necessary documents. It’s quite a lot, but if you have your child’s medical records organized or have a Citizen Health account, it’s much easier. If you are not organized and your documents are all over the place, this is a great motivator to organize these important documents. You want to have all your child’s MRIs, EEGs, and health records in one place.
After CHCO receives your doctor’s referral, they will email you with some proposed visit dates and you will be able to pick one that works for you and your family. Registration will call sometime after that initial email to officially register your child as a patient. Once a date has been scheduled, contact lauren@cureSYNGAP1.org to track enrollment. You will receive a link to MyChart and be asked to fill out some paperwork before the visit. I found this part a little confusing because I needed to locate the documents, but that may have just been me.
Day of Visit
We are in Arizona, and we decided to fly there and back the same day for our initial visit since it was only a half-day appointment; we didn’t have a four hour behavioral evaluation with a psychiatrist this time, but you may, so be prepared for this possibility. If you are flying for the first time to Denver, it will be a bumpy ride, and everyone told me that was normal.
The Denver airport is huge, which I didn’t expect. You will take a train to get to ground transportation and baggage claim. Since I didn’t have checked bags, we went directly to the rideshare section. This part was super easy, since an actual human was at the terminal exit and told me where to go to get an Uber. The waiting area is right outside the doors. Uber will give you a lettered section where you need to wait. This transition was super easy and very smooth. The trip to the Children’s Hospital of Colorado is about $35-$40 and takes about 20 minutes.
The hospital complex is huge!
Once you’re in the hospital, you will have to check in at Reception with your ID. DO NOT follow the reception’s instructions of where to go; instead, follow your map and instructions you will receive from the clinic. (I was told to go to the right and check in at the window. They checked me in, and I was told to wait until someone came to get us, which never happened. Thankfully after a while I figured out it wasn’t the right place and followed the instructions from the email.) Just go straight to the glass elevator – after the initial security check – and up to the second floor. There is a food court on the first floor so I recommend getting food and drinks before heading up to the multidisciplinary clinic.
Once you’re in the clinic, you will get a room, but you don’t have to stay in it. The doctors and therapists will find you if you end up roaming around the clinic with your child. There are 3 to 4 little playgrounds throughout the clinic where the kids can play and relax, and the teams will follow you there as well. You will see a pediatrician first; have a list of your child’s meds ready, as they will request this information. During our visit we had a team of neurologists, neuropsychologists, and genetic advisors. If you know my daughter Kasia, you know we had a “walking visit;” she went exploring and we followed her. A team of therapists joined us next, including speech, OT, and PT. They followed Kasia around and assessed her.
We were done with our visit about 5pm, and called an Uber, which dropped us off at the airport. Again, the airport is huge and somewhat complicated, so budget more time that you think you need.
Tips for the clinic
- If you can take someone with you, do. Going alone with a Syngapian is exhausting. If you cannot, it’s ok; it’s doable, but requires planning and stamina.
- Before your appointment, get all the snacks and drinks from the first floor and bring them upstairs. The food court on the main level, to the left, is quite nice, so take your time and get some food for yourself and your child.
- There are bathrooms with adaptive changing tables, including for bigger kids. They are nice, so use those for diaper changes if needed.
- Don’t feel you need to stay in the room. Absolutely roam the hallways; it’s okay and expected. The clinicians will find you, so don’t worry.
- Ask any questions you want; this team’s approach is excellent. You can have a discussion about anything and everything with multiple specialists at the same time; you can brainstorm, it’s fantastic and saves so much time and energy for the family, since you don’t have to repeat yourself.
Tips for the Flight
- If you can, get a TSA PreCheck card and number, especially if you know you will be doing this more often. It’s really helpful not to take out your electronics, shoes, liquids, and be able to wait in a short line.
- Get TSA Cares. This is free, and you apply through the website a few days ahead of time. If you don’t have the TSA Pre-Check this is a must. Sometimes I still order Cares, even if I get a PreCheck – it’s just helpful. Someone will come and get you and you will have another person to help you through security.
- If your child has a stroller or wheelchair, insist that they stay in the stroller. It will be easier to swipe their stroller and hands then have them get out and get scared or overstimulated.
- Ask for help. Not just a group of people but an individual; ask for specific help. I have asked the flight attendant to hold Kasia’s hand while I assemble the stroller because we all know she will take off.
- If someone offers you help, TAKE IT, even if you think you don’t need it. Just take it; it may make someone’s day to be able to help you and your child.
- Always get a window seat, even if it means there is a stranger in the aisle seat and you are in the middle.
- Get yourself some Ibuprofen or Tylenol, for pain. You will be in pain after an entire day traveling and navigating the appointment; your head and body will likely hurt, so be prepared.
- Snacks, drinks, iPad and/or favorite toy.
- If you have it, wear your SRF gear, tell people about SYNGAP1, and prepare info cards to give to people on the plane.
Overall Experience
I felt responsible to participate in the Natural History Study, but it was so hard to imagine going so far to CHOP. I am a parent of two, and also have a 3-year-old daughter who we don’t have a babysitter for – someone who would take her to school and back and take care of her. My husband is a physician and not available to do any of this during the week. It was hard, but we figured it out! Teamwork makes the dream work.
We decided as a family that we need to practice and do things like this more often as a preparation for an ASO clinical trial, when we will have to travel somewhere (maybe to Colorado) every three months. Kasia is 7-years-old, and was diagnosed at 3-years-old. It has taken four years for us to build her medical and therapeutic team, and we have a good team we trust. For us, this visit wasn’t to seek medical help, but more of a second opinion. I was curious if the Colorado team would agree with Kasia’s team at home. It was a relief to know they pretty much did.
A second opinion is invaluable, but I couldn’t stop thinking of a newly diagnosed family or a family who doesn’t have all these factors in place. This is an amazing opportunity for any Syngapian, but particularly those who do not have a clinical team they can rely on back home. It took us years of work, research, and many appointments to different specialists in order to get Kasia’s adaptive stroller, adaptive car seat, and her AAC device. At CHCO we would have been guided to these resources and supports in one place. What a dream!
Having all of the SYNGAP1 specialists in one place – clinicians and therapists truly interested in and passionate about our children and loved ones with SRD – is a dream come true. The time saved, the collaboration amongst the team and families, the streamlining of assessments, treatments and services, and the commitment to learning more about SRD and helping our community is something I encourage everyone to experience. And as exciting as this chapter is, there is still so much more on the horizon for our SRD patients and families. By participating in the Natural History Study – whether at CHCO, CHOP, or the future clinic at Stanford – your family is directly contributing to SRFs mission, as well as the mission of every SYNGAP1 family, of finding treatments and a cure for SRD.
I hope this guide gives you valuable insight into the process of joining the study, and encourages you to take the next step of reaching out to the clinic closest to you.
