Yesterday we went up to Carle for blood work. Ethan has been on the higher dose of Cystadane (betaine) for a month now so we wanted to check to see if it has made any positive impact to his VLCFA levels and there were a few other things that needed to be checked including his Vitamin D level and his ACTH levels (we check ACTH every 5 to 6 months because most children with PBD develop adrenal problems at some point in time).
This morning while Ethan was at school I got a call from our geneticist and his nurse. I left Ethan at school for the first time today and he did great, but that is for another post. They called to let me know that two of the labs had come back so far and the rest were still pending and would take a while, some like the VLCFA will take several weeks. Well, the test showed that Ethan has low levels of Vitamin D. He already takes a multivitamin and gets additional Vitamin D from his Bright Beginnings Pediatric drink, but we are going to need to do an additional Vitamin D supplement. No problem, we can do that! Vitamin D is important so I'm glad we know that he needs more because his body is obviously not absorbing it correctly because of PBD.
Then, this evening just after 5pm the geneticist called again. Ethan's ACTH came in at the end of the day --- at 373!!!! He was at 23 on April 30th (normal range is 7-63). He is calling the endocrinologist in the morning and going to try to get us in this week. I am in shock and disbelief. This is why we have this checked every 5 to 6 months, but Ethan's levels have always been amazing, and now for them to jump like this my stomach is all in knots. I'm hoping that we'll have a script for cortef (steroids) in hand and filled by the end of the week. Please pray that we'll be able to get in ASAP and that they will help us get this addressed. Ethan has been doing such amazing things this past six weeks and I'm scared of what an adrenal crisis could do to my little man. I'm not scared about the extra daily medicine and stress dosing that we'll need to do. I have seen the steroids do wonders for many of Ethan's little friends, but I am am terrified about the possibility that if we don't get this treated soon enough that it will lead to a regression and loss of skills and the progression of the disease.
Please pray that I would have peace and that the endocrinologist will get us in ASAP and will have the wisdom to do what Ethan needs to stay as healthy and happy as he has been. I'm not sure I've been this worried/scared about my sweet boy in a while. This is like a huge punch in the gut by PBD.