Didn’t get this in last night, but due to the weather, rough goings in travel. Left Dayton late; arrived in plenty of time in Chicago, however. Then the flight we were scheduled to take from Chicago was delayed by nearly three hours. Toss in a weird can situation from the airport, and we arrived at the hotel close to 2am Dayton time.
And yet, no issues on either flight with him being restrained in a belt, no crying from being tired or frustrated. He just sat and watched everything going on around him.
Yesterday (monday now at this point), we had a long consultation with Dr. Whitley, the geneticist, and Dr. Utz, the pharmacologist. This medicine therapy is their work. Dr. Whitley will be performing the spinal tap this morning, followed by an MRI and drawing some blood for more markers. The tests done this week will give them a baseline to see if the medicines are working.
In a related note, the urine samples we had such a rough time collecting last march we were tested, and actually came up normal, something odd for a GM1 patient. If not for the DNA analysis, he (Dr. Whitley) might have questioned the diagnosis. They believe he has a milder form of the juvenile GM1.
Also, neither had heard of the study done in Bethesda on the boy with GM1 also using miglustat. But the news of the success so far has really excited them, and they are familiar with the doctor who is performing the study.