Thursday, December 11, 2008

Our neuro appt


We met with our neurologist again today to go over what was discussed during our visit with Dr. Shoffner in Atlanta and the testing that he is doing from Nathan's biopsy. While we were there, we found out that Shoffner tried to contact our neuro a few days ago regarding Nate, but he was out of town at a conference. Argh! Our neuro said that he would call him back in the next few days to find out why he was calling. I'm terribly curious as to why he called...we are not expecting any results back for a good 4 to 6 weeks more, so it is so killing me not knowing why he called so soon into the testing period of Nathan's muscle.
Today's visit was rather uneventful, but we did learn a few things...our doc is fairly confident that Nathan has some form of muscle disease, but it does appear to be mild at this point. And he also shed some light into the reason why Nathan solely belly breathes when he is awake: his diaphragm is weak. Your diaphragm is a muscle, so it makes perfect sense that Nathan's is weak since his "core" seems to be the weakest part of his body. At first, we thought his belly breathing was due to respiratory muscle weakness, but that has been proven not to be true since he doesn't have a problem with recurring respiratory infections. His diaphragm being weak makes so much sense.Nate's tone looked great today! It has over the course of this week...as he is having a great week and has been back to his cheerful and loving self for the past couple of days. The tone in his ankles was still a little low, but it was even a lot better than it usually is. I think he is finally over being sick 3 weeks ago! And he is eating like a champ now...his motility seems to be back to his baseline. Nateman weighed in at a whopping 17 pounds 13 ounces at today's visit and was 29 inches long. He falls in the 67th percentile for height and the 3rd percentile for weight. That's one long and skinny boy for you. I think I need to try to bulk him up some more before we see GI again in February.So, no biopsy results back yet, but our neuro said that it does look like Nathan probably has a mild form of mitochondrial disease. His labs and clinical presentation point to this, and this is not new information to us. This is something we have expected over the course of the past few months. Dr. Shoffner even included this as a probability in the 11 page letter he sent to us after our visit last month. Of course, we are going to wait on the biopsy results to see if they can confirm these suspicions and go from there. Thankfully, our neuro reiterated that whatever Nate has is mild at this point. We just need to make sure we try everything we can to keep him from having a metabolic crisis that could cause permanent regression in many areas, though we know that we can not control this happening entirely. And we wait...to see if the biopsy can tell us anything.Nathan did great during the long disruption in his schedule. It's been a while since we have been to a specialty appt, and it is getting more difficult to take him and keep him entertained the older he gets. Thankfully, these appts are getting fewer and fewer as we grow closer to a diagnosis.

2 comments:

Christine on December 12, 2008 at 9:01 AM said...

What a sweet boy. I know I would be going crazy like "um, hello doc, dont you think you could call him back like, RIGHT NOW while i am here in the room with you!?!?" Yep, that's me...totally impatient!!

W. Latane Barton on December 13, 2008 at 6:58 PM said...

Nathan is so adorable. Looks a lot like you. I am so sorry that he is having problems with his muscles. Maybe you will soon find out what that doctor was calling about. Patience does not come easy when it's about your child.

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