June 22, 2010

Liver Electromicroscopy Results = HOPE!

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...

NORMAL

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?"
  1. Ursodiol - Bertrand was started on this drug today to prevent further liver damage.
  2. 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.
  3. 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.
  4. Prolonged QT - Even though this heart condition is not good, it is a good clue. Combined with epilepsy, prolonged QT implies a channelopathy.
  5. 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).
  6. Valproic Acid - Also known as depakote, this drug is used successfully with a range of channelopathies. Unfortunately, it is hard on the liver.
  7. Carnitine - This compound is used in the body for metabolism. By supplementing with carnitine, depakote's liver toxicity may be minimized.
  8. 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.

7 comments :

  1. Hope is very good! - Like most of this post! Thank you for the good news. Prayers are being answered. Also liked seeing the photos of B you tweeted! Continuing to pray for Bertrand. And you.

    Barbara

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  2. Oh Cristina, I am sorry you are on such a roller coaster! But we're grateful for this bit of good news.

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  3. Hooray! I kept checking back here hoping that somehow something would have changed - this is great news. It still sounds like a horrendous amount of work, but at least you aren't having to fight with his mitochondria along with everything else!

    NB we're probably going to be sending cookies in a couple of days - after the way the last few have gone, we thought you could use them. Also, Daniel says hello to Bertrand, Penny and Mr. Wang (he mentions the latter two whenever we see a dog).

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  4. You might also try Dr. Hudson Freeze. Last I heard he was at University of San Diego. He does enzyme research. Glad the results came back OK!

    Jen

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  5. Thank God for every little tiny piece of good news. You guys keep your heads up and stay as positive as humanly (or superhumanly in your case) possible.

    xoxo,
    The Napiers

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