A Diagnosis, May 28

I wish I could say that there wasn’t much action while I was in Autotrader training in San Diego. My wife and mother-in-law found themselves in an all but forgettable adventure, starting with a trip to Salem’s ER where my wife was older than the ER Doc. Then they had another ride with the Panda Team to Doernbecher’s Pediatric ICU, where I am sure they went sleepless in an open area with monitors dinging constantly doing their best impression of a Vegas casino slot room.

I can’t say that I’m surprised. Claire averaged a nasty seizure every 12 hours and we had to refill her Diastat rescue medication twice during our short weekend away from the hospital. That is unacceptable, and a trip back to Doernbecher’s was inevitable.

I would have liked to have kept you all apprised of this, but I managed to catch a nasty bug from a hacking neighbor on my flight down to San Diego. I was a slug, only managing to get through the course material with help from my old friends Mountain Dew and Red Bull. The time not spent in class I spent attempting to sleep in my hotel room. Only after my last hour and half nap here in the hospital room in Doernbecher’s do I feel coherent enough to write an update.

We have a diagnosis thanks to a gut instinct by the Neurology Director here at OHSU. Claire’s hemorrhage and strong breakthrough seizures reminded him of a similar case which occurred 20 years ago in San Francisco. Yesterday, they did an ultrasound on Claire’s heart and found a tumor. Before you freak out, know that the tumor in the heart will likely go away without intervention. With her other symptoms, this is a lock for a disease known as Tuberous Sclerosis Complex. Rather than dive into a ridiculously long diatribe about what the hell TSC is, I will instead ask you to visit www.tsalliance.org for the gory details.

I will say what TSC is not. It is not cancer. It does not necessarily mean Claire will have severe disabilities. It doesn’t mean significant changes in treatment. If you take the time to research this disease, be prepared that many of the cited examples are worst cases and not what we expect for Claire.

Yesterday doctors began a steroid treatment called ATCH. If you Google this, like I did, you may dig and finally discover that this is a very complicated hormone, using a good bit of the alphabet just to spell it out. The word sounds like something in Swahili. Very complicated indeed. In fact, no one really knows why it can be effective as an epileptic treatment. However, it does seem to have a “Reboot” impact on the brain. It is a short term treatment that can lead to reduced medications and controlled seizures when combined with the Ketogenic Diet. Thank God the treatment is short term. The Co-Pay alone costs $14,500 for 1 month. If effective in the first month, Claire will have two more months of treatment.

Now let me introduce you to one last acronym—NORD. National Office of Rare Disease. This God send of a Federal Assistant Program has flipped the bill for the ATCH Co-Pays.

Please pray that this works. Pray for Rebecca’s sanity and wish her a happy birthday on Sunday. Pray I get over this cold quickly. Pray that Claire’s TSC is causing her seizures but does nothing else. Praise God for Terry, Wes, Calvin, and Erienne. My in-laws have been pressed into service and they are doing a remarkable job. Thanks to the church for providing some groceries and a gas card. The little things really help.