Extraordinary Measures

At one of our first visits with Dr. I (the immunologist), he brought up the possibility of this being a metabolic problem.  Since our visit with the genetics specialist a few years back, I’d not done much research in that area, but his comments got me Googling once again, which lead to my first real break-through. 

Metabolic disorders can be divided into different groups – some involve proteins (like PKU), others are related to sugars, some to fats, and so on.  I gathered all of the foods Silas was eating and started looking at the Nutritional Information.  I had never realized it until that point, but everything that bothered Silas the most (vomiting, high fevers, etc.) was high in sugar (20-30 grams or more).  The things that gave him moderate reactions were a little lower in sugar (10 grams or less), and the things that he tolerated best all had little to no sugar.  For the first time, I had something to work with.

The Glycogen Storage Diseases (GSD) particularly caught my attention, and one name that kept popping up was Dr. Weinstein at the University of Florida.  He is an endocrinologist who performs GSD research while also seeing patients.  From what I understand, he has the largest following of GSD patients in the United States.  I decided to email the coordinator at his office and see if she could give me any kind of diet information (without really giving her any specific information about Silas).  I just thought they might have some general information on avoiding sugars that might be helpful.

I didn’t hear from her for a while, and had decided it was a dead end.  But a few weeks later, she sent an email apologizing that my email had gotten overlooked and saying they would get back with me.  Not long after that, I had a message on my answering machine.  Dr. Weinstein himself had given me a call!  I emailed him some information about Silas and eagerly waited to hear back from him.

That same weekend, Extraordinary Measures was coming out at the movie theater.  We had planned to see it, since it is about a child with Pompe Disease (GSD Type 2).  Pompe is one of the worst GSDs, and was not the one we thought Silas might have, but we definitely wanted to see the movie.  I had my phone on vibrate in my pocket, just in case.

Shortly after the movie started, my phone began to vibrate.  It was Dr. Weinstein!  I ran out of the theater and into the hallway.  I’m sure he wondered by I was out of breath by the time I answered the phone.  We talked for a while, and he said he would like to see Silas at his office.  I was again feeling hopeful.  A doctor we’d never seen had called us to find out more about Silas.  He is considered by many to be the best GSD doctor in the country, and he just happened to call while we were watching the newly-released movie about GSD.

Janel