September 2, 2022
Our Visit to an AS Clinic
Ever since being diagnosed with Angelman syndrome, we longed to be able to take our children to an Angelman Syndrome Clinic here in the USA. We decided on the clinic at Children’s Hospital Colorado with Dr. Jessica Duis and her outstanding team. Our appointment was bright and early on a Monday morning. Such a motivational way to start the week. My eyes went big when I was told that the duration of the visit could take 4-5 hours. I thought, “WOW, what is going to happen at that appointment?” Little did I know, the time would fly by.
Upon arrival, we checked in and were promptly placed into a room. This was wonderful, because we know how it can be in a waiting room with toddlers, much less two angels. We were not in the room long, before the first specialist knocked on the door. Up first, was a neurologist/epilepsy specialist who spent 45 minutes with us going in depth about how Angelman syndrome affects the brain and why it causes seizures. She wrote us a seizure action plan for school, got us rescue meds and recommened a seizure medication that she thought would be better for my daughter than the one she was on currently. We were so pleased after she left the room, we felt like things were already on a roll and we were ready for the next specialist to walk through the door.
Before we knew it, the speech therapist and occupational therapist came in and spent over an hour with us. They both were so sweet, so welcoming and so accepting of all the messes my 4 year old angel wanted to make (the hair pulling and all). They taught us tips and tricks for using straws, incorporating better eating habits, ways to motivate the kids to use utensils. As the two therapists left the room, I had already received the notes from the first specialist via MyChart. (If you don’t have MyChart, download it now. You’ll thank me later).
We were so impressed with the flow of the visit and how fast people came in after each other, we were never left wondering when the next person would come in.
Next, a physical therapist and a developmental pediatrician studied the way both of my kids were moving around from sitting, crawling, transitioning, walking and playing in their play area. The physical therapist took videos of my daughter walking a small distance in order to monitor her over time and to see where she is in 6 months at our follow up visit.
The last part of the visit was with Dr. Duis the geneticist, a dietician and a nutritionist. The time they spent with us was unbelievable! They answered questions we didn’t know we had. It’s like they grabbed our hand and lifted us up so we could walk again. Just absolutely amazing. My husband and I felt so welcome and understood. I am so grateful for the time we got to spend with the team, and I hope everyone has a chance to go to a clinic. It is life changing and eye opening.
Some advice for your visit:
- Everyone needs to eat before you go.
- Have snacks and lots of liquids at a hands reach during the appointment.
- Bring sensory toys, especially chewys and maybe even a show on your phone or iPad for them to watch and relax a little bit.
- Otherwise just go, ask all you want, be raw with the team. They are your team and they are there for you and your family.
Morgan Leao and her husband Waltier are parents to Annabel and Bellamy, both diagnosed with Angelman syndrome.