Attending the Global Genes conference really inspired me to do more for Darus, and all others affected by PMS (and rare genetic conditions). Upon my return from the conference, I scoured the internet in hopes of finding another research study in which we could participate, and guess what? I found it!
From the website :: The purpose of this study is to further characterize Phelan-McDermid Syndrome (PMS) by identifying objective electrophysiological biomarkers (measurable/identifiable EEG patterns) that can be used to understand underlying neural functioning in this study population. Utilizing measures of neurophysiological (related to the functioning of the nervous system) visual and auditory reactivity, we hope to identify electrophysiological biomarkers which (1) can be used as outcome measures in future pharmacological (drug studies) and behavioral intervention studies and (2) aid in predicting treatment response.
Traveling with Darus in the past has been a bit of a challenge. Airports, airplanes, rental cars, hotels, etc. However, we really tried our best to prepare Darus for what was coming and we think we did a pretty darn good job, because he travelled – and participated – really well!
Day 1 - We started at UT-Southwestern by meeting Dr. Craig Powell and his associate Adrian Avila. Everyone was very kind and hospitable. Darus took to all of the new places and faces right away and even gave kisses and said good bye when appropriate. We spent most of the morning doing an EEG. It was a bit of a challenge getting the specialized cap properly positioned - as there were dozens of leads that needed to be glued and set (many more than what we're accustomed to with our overnight EEGs). We then spent the afternoon undergoing a complete physical and going over all of Darus’ history. Lastly, we went to Dallas Children's Hospital for a blood draw, which Darus handled like a boss.
Specialized EEG with over 100 leads!
Day 2 – The morning started with psychological exams, which are never fun. The exams are standardized and really do a poor job at gauging Darus’ cognition and abilities. They are frustrating for us, as parents, and undoubtedly frustrating for the test subjects, too, that have to endure them. I didn’t let that stop me from encouraging Darus to show off his skills in his own way – I had him spell out answers to my questions using letterboards. Understandably, they cannot use the data he demonstrated- as it isn’t standard – but it’s my hope that eventually these tests will evolve to be more practical and functional for accurately assessing people like Darus. We then moved on to the physical movement portion of the study, which was held at Dallas Children’s. This was my favorite part. It was very interactive and really hi-tech. We were in a room similar to a room that they'd use for animating video games. Darus had small plastic pieces attached to most of the joints in his body - and then was recorded/analysed while prompted to complete different motions. There was also a weighted platform that was used as well to measure his biometrics while he sat, stood up and walked.
Overall, Darus was a great travel buddy and tolerated all of the new places and new people really well. His iPad was definitely a crutch, but we'll take it, compared to the alternative. Jonas and I are very proud of him and his participation!