Today's assessment was sobering. From reading the literature and speaking with experts, we already knew that Bertrand was unlikely to be eligible for the bone marrow/cord blood stem cell transplant. Still, as parents, we had to come to Duke and UNC. Parents are programmed to fight to the death, if necessary, to save the life of their child. It's as natural as breathing. I wouldn't have been able to live with myself if I felt I hadn't exhausted every option and every appeal.
But, now that we've run out of options to save his life, we can devote more of our energy to improving his quality of life. On this front, we've made great strides in reaching a definitive diagnosis beyond "neurodegenerative metabolic disorder." A final diagnosis may give us tools to help alleviate some of his symptoms. I'm very glad we finally discovered that Bertrand is suffering from neuropathic pain, and I'm optimistic that the Neurontin will be able to help him with it. That alone may make him into a much happier baby. Dr. Longo said that the lumbar puncture may reveal that another drug could help calm his movement disorder. The advice we received from the CDL will go a long way in improving his progress from therapy sessions. I'm looking forward to building a special computer for Bertrand that may help him break through the fog of his disorder to communicate with us.
It's a strange feeling to have finally run out of hope. But, the end of hope is also a form of closure. That's not to say we won't keep our eyes open for novel gene therapy and stem cell treatments coming through the research pipeline. But, as someone that does research for a living, I'm realistic about the timescales involved in such endeavors versus the timescales Bertrand has been given.
UPDATE: Matthew made this post while accidentally logged into Cristina's account.