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.

Update, August 6

We finally convinced Doctors to put Claire on Fosphenytoin. They resisted doing that for such a long time due to a so-called allergic reaction she had a couple of months ago, though Rebecca and I never really believed that the reaction was specifically to the Fosphenytoin. But now that she has had a few days to get her level up, we have gone since 8:00 last night with only one seizure, by far her longest break in weeks. Unfortunately we have some hurdles to overcome before we get home.

Claire has been notoriously poor at receiving then keeping IVs. So, I guess that after 30 or so of these, we were statistically due for an infection. Yes, Claire has had a fever for 30 hours. Spiking as high 104, we had to continuously give her Tylenol and keep cool, wet, cloths on her to keep her cool. She also had a blood culture come back positive for infection. Claire is now on two Antibiotics.

What is most frustrating about this scenario is that the doctors refused to believe that the IV caused the infection, despite mounting evidence against their prominent theory. They believed that she had an infection in the lungs due to aspiration. We know Claire aspirates during seizures, but she has absolutely no track record of aspirating while eating prior to this incident. Moreover, the fluid in her lungs disappeared by the time the fever started and she's had no congestions that the doctors and nurses hear. The Doctors' lack of deductive reasoning and logic have confounded us and tested the limit of Rebecca and I's patience and civility with this hospital. It is frustrating to just get Claire’s seizures under control, then be delayed by some carelessness with her IV.

This evening the fever finally broke and the night time pediatrician recognized the infection in the IV spot and drained it of puss. Now that is being treated properly, we can move on to the next step of getting home. We need to transition the use of Fosphenytoin to Phenytoin, the oral form of the medication. This is tricky in the least. In infants, who so quickly adapt to drugs, Phenytoin is very unstable, when the drug level can strangely jump from below therapeutic range all the way to a toxic range—precisely why we haven’t considered this option till now. I suggested to the neuro team that the inject Fosphenytoin rectally instead, similar to what we are doing with the Ativan. As of yet however, the Pharmacy have not found any cases where this drug was used this way. There is a first time for everything, but we want some hypotheticals before we consider this option. The good news is that the seizure came into control before Claire got into the therapeutic range of Fosphenytoin. I believe her current regimen will help regulate her seizures in the event her Phenytoin levels get too low.

With your continued prayers we will get to test the home care drugs over the next couple of days then get home early next week.

Back in Doernbecher.

First, let me once again thank all of you that participated in the Pancake feed on Saturday. It was wonderful to see our friends, family, co-workers, and community members who were so generous with their time and donations.

As you most likely already know, we are back in Doernbecher Children's Hospital as of Sunday. Claire has, for all practical purposes, entered Status Epillepticus--the state of constant seizing. Late last week, Claire stopped responding to Ativan, the drug we used to break extended length seizures. After several adjustments to the medicine regimen with very little results, the Doctor recommended that we get admitted back into the hospital.

The Neuro team at Doernbecher's have not provided many new ideas. There are only four drugs left to try, but there is significant hesitation to start on any one of them. Two are fairly new, but don't show great potential for treating the type of seizures Claire has. One is a drug with really nasty side effects. And the last is a drug very nearly related to one Claire is already on.

So where does that leave us? There is one idea being passed around that I ask your prayers on. The Doctor's are considering doing what amounts to a brain reboot on Claire. They would place her into a medically induced coma for several days, then slowly reawaken her. As you can imagine, this is risky. But, no less risky than the large amount of drugs she is already on or the consistent seizing that could potential damage her organs.

We ask for your continued prayers and support. Pray for wisdom for the doctors and relief for Claire, Rebecca, and I.

-Jake