August 27, Spray & Pray Diagnostics

It is hard to believe Claire is 5 months old today. In many ways the time has flown by, yet in other ways time has felt like staring at a stove burner and waiting for it to turn red on low heat. We have learned a lot about a turbulent life over these months. We've learned that planning too far ahead is as stressful as it is futile. We learned to lean on faith as though taking each step on a high wire above the Grand Canyon. Your prayer and support help in more ways than you could know. The fact that you read and keep up with our story gives us strength.

Because it has been some time since I have written an update, yet most of you read our Facebook status, I will write in a sort of reverse chronology--starting with where we are going, and then moving into recent backstory.

Today, we had a "Care Conference" with the Doctors at Denver Children's Hospital to discuss the game plan moving forward. Tonight, Claire will start the third and final supplement trial. Pray it works, because we are running out of treatment options. It is a Vitamin B3 derivative called Nicotinamide. Dr. Van Hove had one case...Yes, ONE... case that broke infantile seizures. Chances are slim, but Vitamin treatments are low risk and we can treat without waiting for test results.

I am heading back to work this weekend. I am out of Paid Time Off and will head to Charlotte next week for a company meeting. Rebecca's mom is flying in Saturday to stay the week with her. With luck, we will be able to come home soon after next week, but as always, we'll cross that bridge when get there. I ask that you pray for Rebecca and Terry next week as they watch Claire and wait for test results. Hospital stays are not easy. (Not healthy, not restful, etc....)

Test results... Well, this is what we came to Denver for in the first place. Their world class Metabolic/Genetics department has blasted labs all over the country with Claire's blood. The blood-taking around here has really been Medieval. But the list of disorders they are looking for are pages long. Unfortunately most of the tests are 4 to 6 weeks out. This puts in a bit of a pickle. Claire's seizures over the past few days have been frequent and full of oxygen desaturations. Doctors here are not comfortable with releasing us at this time.

Claire's liver is swollen. Doctors aren't entirely sure why. But since she is on 6 medications, you can guess the most likely candidate. Unfortunately you can't quit anticonvulsants cold turkey. You have to wean them, else risk withdrawal seizures. The first drug she ever started, Phenobarbital will be weaned over the next six weeks, followed by Dilatin. Doctors want to make sure that the drugs are the cause of her liver swelling. There are metabolic disorders that cause seizures and mess with the liver too. So, likely this Sunday, Claire will undergo a liver biopsy.

As you can imagine, we are not thrilled about this. They will take a muscle and skin biopsy at the same time. This will be invasive surgery. But with so few answers, we are willing to look down every avenue. We have limited time too. Claire is 5 months old, but is really only developed to 1 month. We need find a treatment before we miss the small window for her brain to get pushed back on to the right track. In truth, finding a diagnosis with all these test will not likely impact treatment much--she still needs to be on anticonvulsants. But if we can name the disorder, we might be pointed to the right line of drugs.

There are a couple other reasons for the litany of tests to find a diagnosis, if not as satisfying. All of these tests, studies, and biologic samples will be put on ice for future use. In other words, they might not have a treatment for what they find right now, but we may get new answers in the near future, as fast as medicine moves. The second reason is to evaluate the risk to future children. Like I said, both are noble, but not satisfying for Claire's condition.

To be honest, we didn't know why we came to Denver other than OHSU really pushed us to go. What could Denver offer that OHSU could not? As it turns out, OHSU did not delve as deep into Metabolic/Genetics as we thought. So the consultation we've received from that department here in Denver was likely worth the trip in itself, regardless if whether they provide a diagnosis. Let me make a quick note on Dr. Van Hove--the room gets heavier from the sheer weight of his IQ when he enters.

Thank you for continued prayers and support.