The last couple of days have been interesting around the Pfohl household. We got the results to Joey's skin biopsy which led to mixed emotions in all of us. We were excited because PDH was ruled out in him which is WONDERFUL news. When we asked the doctor in October if this was good news or bad news if he had this... his exact words were "Let's hope for a no... it's the last thing I want to tell parents!" So, we breathed a sigh of relief yesterday, however, we also got nothing definitive for Joey's disease. They really need to pin-point what the gene is that is causing this in order to treat it more aggressively. So, some time we will be heading out for Atlanta to have a muscle biopsy done on Joey. That's a bit nerve racking! This also opens up the door for Abby to be susceptible to this disease. They are probably going to do some blood work on her to check for now if there are any immediate abnormalities. If blood work is not abnormal, they'll wait on Bubby's full diagnosis. His diagnosis could lead the way to us knowing in what form and how much Abby could be affected by this. So, some fears were relieved and others added! All in all... They keep commenting that for the circumstances Joey is doing very well. His physical abilities have improved. So that is wonderful. Our occupational therapist however is starting to note some delays in Joey. His oral motor skills are more like that of a 4 month old and his hand abilities are around that area as well. Today, she worked with him on utilizing his arms to reach for toys and hold weight. He used his right arm a lot but his left was not being used much at all. So, he's got some work, but he's a determined little dude!!! =)
It has been good to hear from some of you through e-mails. Feel free to leave comments, e-mail or even call! We don't go far! =) It's too cold!! Abby goes to Riley tomorrow for an over night sleep study and we will probably be taking Joey as well. we found out today that he has lost 1 lb. 4 oz. Local doc didn't do anything for his diarrhea or his weight loss. Just wanted to see him back in a week... so we are probably going to visit Riley tomorrow. I think he is apprehensive in helping Joey and understandably so. Joey comes with a lot of info and a lot of challenges. If you don't know much about the disease or his diet... well, I don't blame any one for stepping back! So, we'll probably go to the ER to get him looked at and see if we can get some where with all this. Busy times ahead!
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