Today was a day from hell. The morning at home started out rough with a lot of issues. We got out of the door 20 minutes late. Eli ended up missing all of OT. I dropped Eli and his nurse off at therapy and I ran to CMH to pick up some medical records. Eli had PT and ST. I got all of his papers and showed back up for the end of PT. We had to immediately leave following for his appt. with the geneticist /neurologist who specializes with Mitochondrial Disease.
We met with the genetic counselor for over 1 hr. She went thru a lot of history. Then the doctor came in and spent over an hr going thru all of his end. He talked alot about Eli's significant clinical history. He praised how good of a job Bob and I have done. He was amazed at how well Eli looks compared to what he expected from Eli's clinical history, tests, and diagnosis! We discussed alot about Mito and his thoughts on Eli. He believes there is still a significant piece of the puzzle left to find. He has a feeling he MAY know what that is but the road to testing won't be fast or easy. He does believe that Eli has a neurodegenerative genetic disorder, as well as a chromosomal issue. He ran some tests today(alot of chromosomal tests) and is working on getting the final test done. He says no matter what the FINAL diagnosis/outcome is there is NO cure and that we are currently doing everything he believes that we should be doing treatment wise. Once he has the final piece of the puzzle he will be able to give a better idea to what we should be expecting and may possibly see and a possible prognosis. Not conversations we are looking forward to having.
He also discussed Eli's growth hormone and the increase in apnea issues. He does not believe they are linked. He believes the increase in apnea is simply because Eli's disease is progressing which is resulting in more problems with his central mixed sleep apnea. So the good news is he believes that the growth hormone injections are very important and that we should continue, the bad news is again this horrible disease is progressing.
There was brief discussion of how well Eli did on TPN, and how he wasn't surprised int he least. This is unfortunately/fortunately an issue that is currently no open for discussion since Eli has a blood clotting disorder and has already had active clots, and still has the calcified leason in his heart.
After this Eli had all of his lab work and we headed to his main neurologist. He said Eli's keppra levels looked much better and that since we haven't been seeing any seizure activity that he wants to stay at this same dose for now. He was also encouraged that his legs have improved some. There isn't quite as much tightness on one side, with looseness on the other. His hips are definitely still struggling as are his knees and ankles but improvement on the mixed tone. He is happy with the progress he is seeing, and so are we!
Eli didn't get much in the way of sleep at all today. We left the house at 8am and didn't get home until after 3. Considering his day he did well, but boy is he exhausted. His temp is up, his blood sugar is down, his little cheeks are bright red, and his extremities are moddled. Fun times!
I will update more in the next few days.
Thank you to everyone for the prayers and kind thoughts today!!!