An example of a liver viewed through electromicroscopy.
Brace yourself. According to Dr. Theodore J. Pysher, Division Chief of Pediatric Pathology, electromicroscopy of Bertrand's liver cells are...
Yes, normal! Bertrand has fibrosis (scaring) but the cells in his liver show no sign of a mitochondrial condition, a storage disorder or inclusions such as those found in Lafora and Unverricht Lundborg Disease.
When Bertrand's new gastroenterologist (who I LOVE) gave me this news I wasn't sure whether to laugh or cry--so I did both. Then of him and Bertrand's geneticist I asked the following question: "where do we go from here?"
- Ursodiol - Bertrand was started on this drug today to prevent further liver damage.
- Infection - Fibrosis and subsequent elevated liver enzymes may have been caused by some sort of early infection. We will be looking for evidence and treatment.
- Alpha-fetoprotein (AFP) - Once in the 1000's, Bertrand's AFP levels have steadily decreased to the brink of normal (34). This could support the infection hypothesis.
- Prolonged QT - Even though this heart condition is not good, it is a good clue. Combined with epilepsy, prolonged QT implies a channelopathy.
- Channelopathy - A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. May be either congenital (resulting from a mutation in the encoding genes) or acquired (resulting from autoimmune attack on an ion channel).
- Valproic Acid - Also known as depakote, this drug is used successfully with a range of channelopathies. Unfortunately, it is hard on the liver.
- Carnitine - This compound is used in the body for metabolism. By supplementing with carnitine, depakote's liver toxicity may be minimized.
- Duke/UNC/NIH - Additional institutions following Bertrand's case and care which we will contact to see if there is additional input or interest to do enzyme analysis.