April 26, 2010

ACTH here we come!

If our insurance approves it, Bertrand will be starting ACTH injections this week! This is exciting because if the injections work, they will work quickly. However, there is no telling how long the results would last (3-6 months? if at all?) or if he'll need oral steroids as a follow up. And, there are side effects. Bertrand will have irritability ('roid rage), gastrointestinal upset, cardiac/blood pressure concerns, elevated glucose, a suppressed immune system, and that's just in the short term. In the long term, there are bone density concerns as well. For the 4 week course of ACTH, Bertrand needs his blood pressure taken twice a day and he cannot go to daycare, preschool or be exposed to crowds. (Sadly, this includes his once a week "preschool" time at The Carmen B. Pingree Center.) The shots will, at least initially, be administered by a home nurse twice a day, and then Matthew and I will be trained. But if the ACTH works, all the effort will be worth it! I don't even want to think too much about it or get my hopes too high in case it doesn't work, but there is a small chance I may get to meet my son for the first time! What mother couldn't get excited about that?

Other major topics touched upon at the neurology appointment today included the results of Bertrand's SCN1A testing: negative. This was a genetic test for Dravet's syndrome--a devastating genetic epilepsy disorder. Unfortunately, I couldn't finish taking a sigh of relief before the neurologist brought up Unverricht-Lundborg Disease and Lafora Disease, two new potential diagnoses for Bertrand. ULD is chronic, debilitating and can cause death while Lafora is absolutely fatal. Both start as myoclonic epilepsy and both would explain Bertrand's elevated liver enzymes--and that's why a liver biopsy is back on the table. If they find inclusions in his liver, *bing bing bing* they may have a winner. While a diagnosis would help family planning, I really hope it is not either one. We'll revisit Lafora and ULD after ACTH.

A grab bag of other issues were discussed: the new rapid DNA sequencing facility (more on that later), Bertrand's last EEG (it was improved! there were periods with no spikes!), IVIG (another potential treatment which the neuro doesn't think would work in Bertrand's case), leukodystrophy (very heartening: his neuro thinks his epilepsy may be causing the white matter damage, not the other way around!), stem cells (she didn't laugh at us, which is a plus, but said there are several less expensive, insurance-covered options we can try first), medication (she wants to possibly add zonegran after the ACTH), orthotics (Bertrand needs braces/AFOs because his ankles are starting to lose flexibility), and the DSPD waiting list rejection (it is preposterous and she is writing a letter of diagnosis. The diagnosis? Doose Syndrome).

For now, Bertrand's next EEG has been scheduled for May 17th and we're waiting to hear back from the nurse within the next 2-3 days. In the interim, I will email a few parties "in the know" in regard to ACTH and the ketogenic diet. I am not fully comfortable with the information available to our group here about that. Fingers crossed, everyone!


  1. Maybe Cole and B can be in isolation together :)

  2. wow!That is so great. Isn't it a nice change to come away from neurology appt feeling like your going somewhere? It sounds tough but I keep coming back to ACTH in researching and it sends off so many connections in my head. It is the only plausable thing that links it all. Please keep us updated! Good luck!

  3. You explain things so well, Cristina. I love reading your posts - information infused with hope and love.

    I am not compensated for recommending Cascade for orthotics. I do so because I believe they make the best. If you have not heard of them, see dafo.com.


  4. Thanks, Barbara! I believe they carry/order the Cascade brand at the orthotics shop we're going to. I'll be sure to ask at Bertrand's evaluation tomorrow afternoon! Many thanks again!

  5. Hi Cristina, I'm Becky. I was at that last meeting at Nikki's house. Several people in my Yahoo forum are doing ACTH and IVIG (not together). Anyway, I'd be happy to ask them any questions you may have about them.

    I hope it works like a dream for you three!
    Thinking a lot about you!