bloodwork news

I just spoke with Pierce's geneticist to get some clarification on a few questions his neurologist had. The respiratory chain enzyme assay was completed. He plans on doing the mitochondrial DNA bloodwork in the future. Pierce does not have any Inborn Errors of Metabolism.

And the great news is that his medications are working! His ketones and amino acids are back within normal limits! Pierce's CoQ10 levels were lower than Dr. N wanted to see. His level was 271 and he wants to see it in the 300-400 range. He is fairly confident that it is most likely in that range as he upped Pierce's ubiquinol dose from 0.5cc to 1cc twice daily (back on March 7).

Yay for some great news :) I will take it however it comes in whatever amount - small or large!

As for Brice, his nuclear gastric imaging study has been moved to Tuesday morning. I was attempting to research what to expect with this particular test. While reading CHOP's website, I noted that they stated you cannot have an upper GI series 48 hours prior to nuclear gastric imaging. I had already placed a call to the imaging center to speak with a tech on what to expect. When they called me back, I explained to her what I read and she didn't feel it would interfere but said she would check with the radiologist just to be sure.... well, sure enough, it could cause inaccurate counts on certain images - (one point for me!) - they were able to squeeze him on Tuesday morning.

He has to be NPO for 6 hours prior to the study (including pain meds)... Here's the laughable part of all of this: Brice will eat a radioactive scrambled egg (made in a microwave)... he will have 10 minutes to consume it (not sure how that will go, especially due to his lack of appetite)... and here's the kicker, the ideal way to perform this test is for him to LAY STILL for 90 minutes! If {more like because} he cannot stay still, they will take images every 15 minutes. We will have a 2-2.5 hour break (while still NPO) at which point we will return to have another image taking at the 4 hour mark.

We will have his swallow study and upper GI series the following day.

His GI is out of the office all next week. I am hoping his partner will interpret the results so I can get some answers next week instead of having to wait. We will see :)

Neuro {Pierce} and GI {Brice} Updates...

Yesterday, I took Pierce to his neurologist. I really love her. She is very down to earth, has amazing bedside manner and truly cares about your concerns/thoughts. To me, those qualities make for a great doctor!

These were the major highlights of our appointment:

• Pierce's episodes are Breath Holding Spells. Dr. S stated that they start around 12-18 months old. It's not a temper tantrum. It is involuntary (just as fainting spells are). She said when he is letting out his cry, something in him forgets to tell him to breathe back in --- that's why he stops breathing, turns blue, goes limp, etc. I told her about him going stiff and twitching, she said can be considered normal... he can actually go into full-blown convulsions for up to 15 minutes before he would be placed on any sort of medication.
• If he were to convulse for more than 15 minutes or if he were to start having breath holding spells that were not triggered by crying, then he would be put on medication.
• There is a correlation between breath holding spells and epilepsy (which doesn't mean that because he has BHS, he will have and/or get epilepsy).
• We spoke about Pierce's muscle biopsy pathology report. She and the pathologist (from Texas Children's) go "way back."
• Dr. S asked if Dr. N (our geneticist) had ordered the quantitative respiratory chain enzyme assay. I told her no and she thinks it's important to do it. It needs to be done on the muscle tissue so hopefully they still have some of his tissue left.
• She thinks Dr. N needs to do the bloodwork on the mitochondrial DNA
• Dr. S asked if Dr. N ever said anything about Pierce having a fatty acid oxidation disorder. I told her no; she was curious if he had ever been tested for it - again, to my knowledge, he has not.
• She thought it was really interesting to see the statement "This patient shows markedly reduced expression of Dysferlin." - she said this was the third patient she's seen with that. Dr. S said she has no idea what it means and that it could mean something or it could mean nothing. She planned on emailing the pathologist and letting her know that Pierce was her patient and that this is now the third mito patient they've seen with the Dysferlin issue. She said they may publish the information so that it's out there.

We will continue to follow-up with neurology every 6 months for awhile, unless something changes that warrants sooner follow-ups.

And for Brice... I called Dr. A yesterday and left a message regarding the great extremes we've gone to in getting him to take his medication. He called me back after 5pm. I told him that I couldn't get Brice to take his meds orally - in no form - at all. I also told him that Brice has been coughing/choking on things as simple as water, he's back to gagging himself again, and just seemingly very symptomatic for reflux. In addition, we're still hearing daily complaints about his belly pain. The following are the highlights of my conversation with Dr. A:

• We can stop the antibiotics (sulfamethoxazole). While Brice's staph aureus counts are definitely abnormal (350,000+), he is not insanely abnormal (1,000,000+). He's comfortable, at the moment, with us discontinuing the medication.
• He is concerned about Brice coughing/choking on water. He wants a pharyngogram (swallow study) to be completed this week.
• In addition to the pharyngogram, he wants an upper GI series as well. Those will both be done at the same time.
• He is also concerned about possible gastroparesis (delayed gastric emptying). Dr. A is ordering nuclear gastric imaging to be done this week too.
• There is the possibility he may order an esophageal manometry to look for esophageal spasms. Our doctor does not do manometries. He thinks there is one doctor in our area that does it and there is a doctor at Texas Children's that does it as well.
• And with all of the above on the table, he also stated that he is not taking the idea of Brice's gallbladder off the table either. I am thinking that is more at the end of the list, but it's still on there.
• Dr. A wants all of this testing done this week. He will be out of town next week but his partner will be in and we have strict instructions to call if things start falling apart and/or deteriorating. 
• *** Just got a phone call (10:30am) --- they are unable to schedule any of the testing for this week --- we will have his pharyngogram and upper GI series next Wednesday (4/6) and his nuclear gastric imaging on Thursday (4/7).

I think that's it! I will update again after we have the tests done.