April 16, 2009

Well-baby check and more test results

Things have been moving so quickly since we got back from North Carolina (and finishing taxes *shudder*) that I've been a bit lax on the updates. Here are some things you've missed.
  • 4/13/09 Bertrand had his first hippotherapy session. His horse was named Captain Brownie, but B was more interested in Patches, the barn cat. :) We can't wait until the next session on May 4th! I'll post pictures and video later.
  • 4/14/09 Bertrand had a skin biopsy, from which he has recovered beautifully.
  • 4/15/09 Bertrand went to the Salt Lake City library to meet with his play group and participate in a baby read-along. We had fun in spite of the weather. Later that day, we all went to see Judith, our family counselor, for almost the last time. She thinks we are coping amazingly well and that we should write a book some day!
Now that we're caught up, today Bertrand had a well-baby visit with Dr. Samson-Fang. He got 4 shots. She said he looked great and his tone had improved. We were, however, still referred to pediatric rehabilitation physicians, Dr. Judith Gooch and Dr. Teresa Such-Neibar, for help with Bertrand's tone and function. Dr. Samson-Fang also referred us to a dentist, Dr. Keller, to make sure B is on track orally. Bertrand's blood pressure came back high, so we'll be watching that.

I came in with several questions regarding Bertrand's diet, medications, and supplements. He'll start taking 100mg of Coenzyme Q 10 every day. And, we should replace some bottles with water--she mentioned that they sell thickened water on amazon.com. (It could be easier for him to swallow.) Bertrand's weight is still a concern, but we'll see what happens between now and his 18 month well-baby. A lot can happen after the lumbar puncture.

Lastly, we got some lab results back:
  1. ACTH 62 (normal range 5-46)
  2. Copper 64 (normal range 90-190)
  3. Ceruloplasmin 19 (normal range 14-44)
Here is what Dr. Longo said about them:

ACTH is a bit high. We do not have a simultaneous cortisol (ACTH is superior in these conditions as a screening test): would repeat next week cortisol and ACTH: if still high, would give hydrocosrtisone replacement. Patients with peroxisomal disorders have ACTH levels in the hundreds. Bertrand also had normal VLCFA that excludes classic peroxisomal disorders. Would get RBC plasmalogens if ACTH is still high.

Not sure about Allgrove: high ACTH is seen in Allgrove. However, several of the other findings are usually absent in Allgrove.

So, I would repeat cortisol/ACTH next week when he comes in for the spinal tap. I will discuss with Dr. Sakonju to determine the studies to obtain on the CSF.


  1. I look forward to the pictures of B on the horse! He should be beautiful!
    Titi Lili

  2. He likes cats, just as you used to when you were a little girl. He must have enjoyed his therapy session. Also looking forward to the video and pictures. I hope the high blood pressure was a one time event.
    My love to all of you,