We just got back from our meeting with Dr. Kurtzberg. While we have many more data points now, we have no definitive answers on Bertrand's disease. The consensus is that he has something metabolic with a genetic basis, but they don't know what.
I am shell-shocked in spite of the lack of diagnosis. We now know that Bertrand's neurologic condition is already too far gone for him to be considered for a stem cell transplant even if he has a disease for which it would be considered an effective treatment. The chemotherapy itself would likely accelerate the progression of the disease.
Yet again, hope has proven cruel. Mitochondrial conditions (which while mitagatable in some cases, are fatal) are now at the top of the list. Doctor Kurtzberg wrote Bertrand a prescription for a seizure medication, for when he starts having seizures.
I don't know what else to say. Doctor Kurtzberg and the team at Duke have been amazingly kind, efficient, and knowledgable. They've given us many tools to improve Bertrand's quality of life for which we are grateful: toys, tools, tips and prescriptions.
We are very glad that we made the journey to North Carolina even though we are not leaving with a diagnosis in hand. The doctors at Duke will continue working with Bertrand's doctors at the University of Utah, sharing test results and brainstorming.
Bertrand will be undergoing a skin biopsy this Tuesday, April 14th with Dr. Longo and a lumbar puncture on Tuesday, April 20th with Dr. Sakonju at the University of Utah. Hopefully, this combined with the pending lab results from Duke will give us an answer.
Despite the grim prognosis we need to keep working toward a diagnosis. This will help us deal with Bertrand's symptoms and have a better idea about his life expectancy. Also, as we've been told yet again, this will help with family planning. :-P
Dr. Kurtzberg spoke a great deal on preimplantation genetic diagnosis. This is a method used for invitrofertilization by which embryos are genetically screened before being implanted. It has been sensationalized in the news because it makes selecting for hair and eye color possible. However, in practice, only parents who're likely to have children with life threatening disorders are actually using it so they can have healthy kids. Therefore, it should NOT be made illegal!