June 3-Something Isn't Right

When I last wrote to you, I told you that we got a diagnosis of TSC (Tuberous Sclerosis Complex). Rebecca and I were of course frustrated with that, but who wouldn't be? Perhaps we were in denial, but it never sat well. They made the diagnosis based on the level of Claire's seizure activity and what they thought was a Tumor in her heart. For me, this was weak--far short of ALL the criteria needed make this diagnosis. In typical TSC cases, you would also see skin lesions and issues with the eyes--Claire came up negative for both those test. But Doctors were in such a rush to put together a treatment plan they insisted on sticking with TSC as a "working" diagnosis and suggested that more symptoms would develop over time.

Remember rule number 1? Prayer. I prayed a lot about this. Mainly I asked God for comfort. What I got was a great deal frustration, sleeplessness, and a nagging discomfort with the diagnosis.

I asked for the DNA test of TSC. What I didn't realize at the time was that there is only one lab in the country that tests the two chromosomes for this disease and that there was only a 70% chance of getting an accurate result. On top of that, it would cost $5,000, not covered by insurance.

When we received the paperwork to get the test, I stalled. I couldn't say why, other than I didn't feel right about it. To top this all off, my wife had to communicate this to the doctors on my behalf!!! I have been working during Doctor's rounds. My dear wife has some serious stones. She trusted me enough to arm herself with my discomforts and hold at bay the doctors. Way to go Rebecca! I also told Rebecca that I wanted the Doctors to give Claire Vitamin B6 and again, she conveyed that wish to doctors on my behalf...more on the Vitamin B6 to come...

This morning, after I left for work, the Panda team had come to take blood from Claire for the TSC test. When they were nearly finished taking the blood for the test, one of the Neurologists burst into the room and halted the procedure. Apparently, the Epileptologist was reviewing all of Claire's tests, and reviewed her echocardiogram with the cardiologist. There was a typo!! Yes, an F-ing typo!!! There is no tumor on Claire's heart. TSC is not the correct diagnosis.

But wait...there's more. My poor wife had to endure the lackluster communication skills and unfortunate data bases here at Doernbecher's. Not an hour later, the Pediatric Resident came in and told Rebecca that it still may actually be TSC! I can only imagine my wife's response, and it’s truthfully her story to tell, but that Doctor got a reaming I'm sure she'll not soon forget. Way to go Rebecca!

Remember rule number 4? Advocacy. No one can fight for your child better than you can. An uproar in OHSU's Neurology Department finally dealt us a confirmation that Claire does NOT have TSC. Thank you God for the strength to ask questions, stall, and follow our gut instincts.

Claire has gone 30 hours as of this note without a seizure. My hope is that she has a disease called Pyridoxine Deficiency Seizures (PDS)--seizures caused by a shortage of Vitamin B6. It is terribly rare and horrendously under diagnosed. There are only 100 diagnosed cases World Wide. Why am I HOPING for this? Well, it is easily treated with large doses of Vitamin B6. Pray about it. Pray hard. We're ready to be out of this place.