Blood & Urine Tests, Plan of Action

Bertrand enjoys playing with toys at the laboratory.

Early this morning, I called Dr. Samson-Fang's office again. When they told me she was out for the day and would get my message on Monday, I decided to emphasize the importance my message. The receptionist finally agreed to page Dr. Samson-Fang, but left me with the impression that she doubted my concern. Dr. Samson-Fang, however, never disappoints. She called me back immediately after getting paged.

We started by discussing Bertrand's progress in therapy. She will be mailing me the Shriners' application on Monday, so we can start Bertrand on physical therapy there in addition to his home sessions through the Utah's state early intervention program.

Dr. Samson-Fang then mentioned implications of the ataxia telangiectasia (AT) test results. First of all, these results still don't discount one extremely rare form of ataxia. Fortunately, she thinks that particular form is not likely for Bertrand. Next, we discussed Dr. Book's involvement. Dr. Book seemed convinced that Bertrand had AT, but now that it has been ruled out she'll have to revisit his situation.

Honestly, dealing with Dr. Book's office and her demeanor toward Bertrand's case has left a sour taste in my mouth. While it could also be that she is simply very busy, from the begining I got the impression that she was uninterested in collaborating on Bertrand's case. He was not her "problem". Her office wouldn't even schedule a follow-up appointment for him, and I had to dog them to speak with even just a nurse for his results.

Apparently, for Bertrand's last series of tests Dr. Book had ordered a screen for some metabolic disorder. No one had bothered to tell us, but that screen came up abnormal! They didn't have enough urine to then run the full follow-up test. Dr. Samson-Fang went ahead and faxed orders for that test to be run along with his regular blood work (AST, ALT, alpha-fetoprotein) today. I strapped a urine bag on him (I have a stash at home) and *ran* out the door to get that done!

We just got back from the Primary Children's Outpatient Laboratory. Bertrand is upstairs happily cooing in his crib. It was rough because they had to stick him twice and he is so strong they need two technicians to hold him. There is definitely nothing wrong with that kid's gross motor capabilities! :) This next round of results should give Dr. Samson-Fang something to talk to Dr. Book about. Hopefully, someone at Dr. Book's office will actually care this time.

Dr. Samson-Fang also mentioned that Dr. Book may want a liver biopsy to determine if it is a metabolic disorder where things are being stored in the liver. This wouldn't show up on an ultrasound or a CT scan. She'll be talking with Dr. Book about next steps, and a possible appointment for Bertrand, once the lab results are in on Monday.

Dr. Samson-Fang will also email Dr. Longo, who is the big metabolic guy here at the University of Utah. He works closely with Dr. Book, but tends to be more responsive--particularly to emails. With a 6 month leadtime, his clinic is even harder to get into than Dr. Book's! However, I am optimistic about dealing with Dr. Longo since he won't have the same preconceptions.

Wrapping up my talk with Dr. Samson-Fang, we discussed Bertrand's April 8th follow-up with Dr. Sakonju, a brain CT scan and a possible lumbar/spinal tap. The issue is the general anesthesia. While a CT scan is easy to order (Dr. Samson-Fang could order it), Bertrand has to get put under because the sedation didn't work last time for the liver CT scan. And, since they'd have to use general anesthesia anyway, that would be a good time to do draw the spinal fluid.

I'll give Dr. Sakonju's office a call next week once his most recent labs are in. If the urine test comes out positive for the metabolic disorder then there is no point to the CT scan or tap. Our search for a diagnosis will essentially be over and Dr. Longo will be our new go-to guy. However, if the test comes back negative, and all the metabolic issues get ruled out, Bertrand becomes a candidate for the University of Utah Department of Neurology's Movement Disorders Clinic.