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.
i'm sure you don't feel this way, and wish you didn't have to face this, but you are so strong, Kiki. i can't imagine what you and your husband and family are going through, and yet, you keep on. you are an inspiration. you are amazing. i don't think i'd rise to the challenge as well as you have. Bertrand is one lucky little boy to have parents like you and Matt.
ReplyDeletebe sure to ask about the switch from formula to milk improving his afp when you talk to the nutritionist. maybe they'll have answers...i am focusing my thoughts on an exact diagnosis that is curable or at least, very treatable. *hugs*