April 14, 2009

Skin Biopsy, Pharmacy, Lab Work & More

Bertrand saw Dr. Longo this morning for a skin biopsy. After applying local anesthesia to the area, Dr. Longo took a pencil eraser sized chunk out of Bertrand's right buttock. Bertrand slept through the actual biopsy portion. This is of course after he pooped on the table and proceeded to pee all over Dr. Longo's nice white lab coat. That about covers what Bertrand thought of the entire experience. ;)

After that Bertrand and I went on the great seizure medication quest. Two more pharmacies and still no meds. His prescription calls for a non-standard dosage because he is small. This has caused me grief. Finally, the University of Utah hospital pharmacy said they could make them... by Thursday. It's a good thing Bertrand doesn't actually need them yet!

After that we were off to the outpatient lab. And, yes. My son, he has the stigmata. They had to poke 4 times (both hands and both arms, no feet this time) to get all the blood they needed. We got two of our favorite lab techs (Joel and Renee) since it takes three people to hold Bertrand down. As tough as it was, we managed to get a lot of smiles from Bertrand--and draw the blood.

The labs (many are repeats) and expected turnaround times are as follows:
  1. Copper: 1 week
  2. Ceruloplasmin: 1 week
  3. CLN1 & CLN2: 1 week
  4. ACTH*: 1 week
  5. GM1 (Seattle): 7-10 days
  6. Arylsulfate (Seattle): 2 weeks
  7. Purine Panel (Baylor): 7 days
The skin biopsy will be cultured for 2-3 weeks at the ARUP lab before being sent to the University of Alabama. From then it'll take an additional 2-3 weeks to run the tests.

*Adrenocorticotropic hormone (ACTH or corticotropin) is a test I requested.

Last Saturday Bertrand rolled off the bed, got hurt and cut his lip. He was screaming so loud and hard that his face was blue, but there were still NO TEARS. I finally had enough and spent a day researching that condition; it's called alacrima. It ranges from no tears to blistered corneas and can be caused by very few things, one of which is called Allgrove syndrome.

Allgrove is another VERY rare genetic condition. It is also called Triple A Syndrome because it is characterized by Alacrima, Achalasia (difficulty swallowing) and Adrenal deficiency. We know Bertrand has difficulty swallowing and choking--his swallow study is next Tuesday. The ACTH would measure the adrenal (un)responsiveness, which is why I want the result.

People with Allgrove can have ataxia, movement disorder, neuropathy, optic nerve atrophy, developmental delay, abnormal EEG, small head for height... all of which Bertrand has. About the only thing he doesn't have is failure to thrive--his "problem" with a lot of tentative diagnoses. :) Most interestingly, it disproportionally affects Puerto Ricans! This is the first disease for which we have a known genetic basis.

Treatment for Allgrove would be relatively simple: a steroid like prednisone. (And of course extensive therapy to try to work around the damage which has already occured.) However, it is worth keeping in mind that alpha-fetoprotein, ALT, AST, and oligosaccharides should all be normal for Allgrove. These are all elevated in Bertrand. Regardless, I am fostering that evil little emotion called hope again. :)

1 comment :

  1. What a very busy day you had yesterday, also for Bertrand. I hope the results for the test are within normal range. I was thinking about his medicines and that they would have to give him special dosages because he is small. Allgrove what a finding.
    My love to you and Bertrand,