St. Louis

 

We spent this Mother’s Day weekend in St. Louis for a short family getaway. We had nice time visiting the Gateway Arch, Missouri Botanical Garden, St. Louis Zoo, and City Museum with my mom and stepdad, and sister’s family.

St. Louis is also a place that we were able to visit with Audrey. Jeff, Hannah, Audrey, and I went for a mini-vacation in 2021. We stayed at the Union Station hotel and visited the Zoo and Arch and Botanical Garden together.

We rode the ferris wheel and walked around downtown, playing at a playground and on the sculptures along Market Street.

One of my favorite things we did was pick up Cheesecake Factory (a particular favorite of mine) and had a picnic at the botanical garden. Although it was a relatively cold spring break, that day turned out to be very pretty and all the daffodils and tulips were in bloom at the garden.

I remember pushing Audrey through the Climatron dome in the double stroller we used and also remember her playing with the chime bells in the children’s sound garden. One of the last things we did at the zoo, where we visited with Jeff’s high school friend, Brian (who had lots of fun excursions with Hannah and Audrey), was that Audrey and Hannah spun the wheel to get a pressed penny to commemorate their visit. They loved collecting pressed pennies and we have many from trips that we’ve taken together and places we’ve visited.

The second time we went to St. Louis was less of a happy one, but we still tried to make the best of it. That time, Jeff, Audrey, and I had to travel down to St. Louis Children’s Hospital and Washington University as part of a clinical consultation with the Undiagnosed Diseases Network. At that point, we had exhausted all available medical testing to determine why Audrey had developed intractable epilepsy and autism. It was all very frustrating for Jeff and I, as we fought for clarity in diagnosis and always hoped for something that would inform a better treatment plan or maybe even a cure. At that point, Audrey had completed all neurological, cardiac, and metabolic workups several times. We had completed epilepsy genetic panels, tested both Jeff and I and Hannah for indicators of any inherited genetic conditions, and had sequenced Audrey’s whole exome. That is the point where insurance will no longer pay for any more testing.  

The Undiagnosed Diseases Network is a federally-funded initiative that helps families with rare, undiagnosed diseases receive additional genetic testing beyond medically-covered services, and leans more into genetic research at the academic level- drawing on a large body of shared genetic records to look for patterns in patient histories and symptoms to discern novel or very rare diagnoses. It’s a long-shot, but for some families, it brings answers.

In order to participate, we had already shared all of Audrey’s medical records and her prior genetic testing with a national registry. Audrey was accepted into the program, but we had to travel to St. Louis for a 2-day consultation that involved more testing, meetings with a geneticist, ophthalmology testing, and donating a sample of Audrey’s skin tissue as part of the genetic registry. With Hannah in school, it was difficult to find a time that we were able to travel, so we ended up selecting one of our only open dates which was just before Christmas in 2022. We drove down and on the first day, we took Audrey to City Museum. We played in the outdoor climbing structure and in the aquarium area and Audrey had fun, while we also tried to keep her happy, distracted, and healthy for the upcoming barrage of tests.

 

After City Museum, we again met up with Brian for dinner, and I remember Audrey seizing at the restaurant, and we were just feeling desperate and bit hopeless and sad at being away from Hannah near Christmas, at this last-ditch effort to find answers for Audrey, and at our own helplessness in her ongoing battle with infantile spasms.

The hospital team at St. Louis Children’s was very kind and good with Audrey. They helped us through a long day of procedures and tests and came to know how cute and funny Audrey is by the end of the day, as they were laughing with her and commenting how adorable she is. After a long barrage of tests, we met with the UDN geneticist, who shared that they had completed a sequencing of Audrey’s entire genome and found that there was no existing genetic diagnosis or condition that explained her symptoms. It was discouraging in a way, but also in some ways, a bit of a relief- to be done, to have reached the end of the long journey of looking for answers. There were no more tests to be done and no other avenues to explore. We did not and would not have an answer for what caused Audrey’s epilepsy and subsequent autism, developmental delays, and behavioral problems. The geneticist told us that at that point it was equally likely that something environmental that we as yet don’t understand caused Audrey’s epilepsy/autism, as it was that there is also some yet unknown genetic condition that would explain her symptoms.

I remember driving back from St. Louis being glad that all of the testing and genetic counseling was over, and then just being focused on how to best help Audrey by working with her medical team to manage her seizures and other needs to the best we can. We continued to try and explore other possibilities that might help her, including some alternative therapies- such as ketogenic diet, cannabis-based medications, and various therapies, but to no avail. We didn’t know or expect then for our remaining time with Audrey to be as short as it was.

But we are thankful that it was filled with a lot of joy in the time we were with her. Even through lots of medical procedures and hospitalizations, Audrey was not just a trooper, but a funny, happy kiddo- and we had the opportunity to take many fun adventures with her.

This weekend in St. Louis was bittersweet, but felt more sweet, in a way, because there were lots of joyful memories with her, and lots of little reminders while we were there of the things that make Audrey Audrey and the ways that she made all of our lives happier and richer.