Last week was our much anticipated visit with Dr. Weinstein. He is the endocrinologist who specializes in Glycogen Storage Diseases. He sees patients and performs research on GSD at Shands Hospital in Gainesville, FL, and is associated with the University of Florida. If any of you reading came across this site because you or someone you know has GSD, you MUST go to see him.
The trip down on Tuesday was long - almost 10 hours. But, to be five, Silas did well, and we arrived around 7:00 pm FL time. We stayed at the Country Inn & Suites because it is the only hotel in the area with an indoor pool, and it is only about 3 miles from the hospital. We didn’t have much spare time, but the pool was a good way to let Silas play a bit after riding all day and before going to the hospital.
Wednesday morning, we checked into the hospital about 10:00. Not too long after that, we met with Dr. W. I was encouraged because he was very committed to helping us find an answer before we left. He wasn’t sure that Silas has GSD, but he thought it was a disorder of gluconeogenesis (I think that’s the right one). The nurses put in an IV so they could do hourly blood draws while Silas was there. With the IV, they could just poke him once and get what they needed from the IV line each time.
Silas has been to so many doctors and been poked so many times. He was very hesitant at first and tried to scope out the situation. However, Dr. W tries very hard to make the kids have a good time. There is a play room on the hallway that the kids can use. It has toys, games, videos, crayons, paint, etc. There was even a Wii in our room. The kids can also take one of the tiles out of the ceiling and paint it. And, Dr. W often brought presents. One time, Silas picked out a Christmas video from the play room. Dr. W said, “You chose a Christmas video. That means you get a Christmas present.” Silas was thrilled.
I mentioned the ceiling tiles. Below is a picture of the tile Silas painted. He said it is him and Dr. W playing outside together. He had Criss help him with the sun, but Silas did the rest. Notice the dots inside Silas’ tummy. He said that was his chicken nuggets and bread. The nurses loved it and had us put it where they could see it from their office window.
Dr. W began by having Silas eat his usual diet. Nothing abnormal was showing up in his blood work, so the next day (Thursday), we added in some of the foods that we know bother him. Even with the food challenge, nothing was showing up. Later that day, Dr. W told us that if nothing had happened by dinner, we would be discharged. (Our visit was originally set for one night. However, Dr. W had said we might add a night if needed.) He said that if the problem was metabolic, there would have been abnormalities in Silas’ blood work by this point. I felt sick at my stomach. I had hoped that we would finally have answers and that someone would be able to help him.
Dr. W had a metabolic specialist from the hospital drop by our room as well. The two of them believe that Silas’ low uric acid levels are a “red herring.” The low levels were one of the indicators that Silas’ issues might be metabolic in nature. They now believe this is a separate, unrelated issue. Dr. W believes the answer lies within the GI tract, and that our GI doctor is the one who will have to find it. That was difficult to hear. Although I really like our GI doctor, he has never been aggressive about finding a diagnosis for Silas. Even after Silas was in the hospital for 2 ½ weeks, he kept insisting it was IBS. IBS does NOT cause inflammation!!! We see him again in the next couple weeks, and we will just have to see how that goes. Dr. W mentioned wanting to speak with him sometime, so maybe that will help.
Here is a picture of Silas with Dr. W just before we left. They are standing under the tile Silas painted. Silas is holding up some of the toys Dr. W had given him that morning. They had kicked the ball around the hallway together.
It was late, but we decided to go ahead and drive all the way home that night. We knew the extra foods Silas had eaten would start to bother him at some point, and we knew it would be easier to drive at night with him asleep for most of the trip. We made it home about 2 am on Friday morning. I coordinate the children’s choir at our church, and we had a lock in to kick off the new season that night. I was tired, but it went well.
Silas had been feeling pretty good before the food challenge, so it didn’t send him completely over the edge. He was more irritable Friday through Sunday, with Sunday being the worst. The other strange thing is that Silas developed a rash all up and down the arm that they had put the IV in. I didn’t notice it until Saturday. He just reacts to so many things.
One idea that Dr. W and I briefly discussed is the possibility of Silas having an eosinophilic disorder. I will have to save that topic for next time.
“My flesh and my heart may fail, but God is the strength of my heart and my portion forever.” Psalm 73:26