Oops! I forgot to post this yesterday! We saw Dr. Samson-Fang. The appointment was for his 12 month shots (measles & chickenpox), but they got postponed until Bertrand gets Dr. Longo's go-ahead on Monday. I made it clear to Dr. Samson-Fang that preserving Bertrand's mind is our #1 priority. So, time is of the essence in pursuing experimental treatment options.
We learned that on Monday, Dr. Longo will likely meet us with both a nutritionist and geneticist. Many metabolic conditions can be mitigated with some diet regulation. And, the geneticist can assist not only Bertrand, but also Matthew & me. I imagine that this initial consult will be longer than your ANSI standard doctor's visit.
We're waiting to hear back from Dr. Kurtzberg on the MRI. Depending on what she sees and what we hear on Monday, we'll be making our decision on whether to include her in Bertrand's treatment in Utah or just take him straight to Duke University.
Here is a clinical trial that Bertrand qualifies for called Studies of Children With Metabolic and Other Genetic Disorders. The focus of this trial is on training doctors, not treating the patients. We've decided it's not the best fit for our familial goals, since we want to try everything possible--not just standard medical practice--in treating Bertrand. We'll keep this blog going and encourage the journalization of Bertrand's case in order help other families and doctors.