Forum: Mitochondrial Disease & Metabolic Disorders

So Katlyn's labs from last night came back with Pancriatitus. :( So we are certainly not trying g-tube feeds any time soon. The problem will be that Dr. B does not like doing PICC lines in Mito kids and she blew 2 IV lines just last night and the last one took about 6 sticks to get, so I guess they are going to try and convince Dr. B to do a PICC on her.

This was Meredith's new diagnosis today. She sees the urologist when we get back from our trip but that is what he told our ped based on the tests. She said there are medication options like Detrol but she doesn't "go" - I thought Detrol was for spasms and not to help it contract. She said we may need to cath her regularly - all things we'll find out when we get back. Ugh!

I posted on the other board that Katlyn is in-patient, but things have ggone from bad to worse overnight (literally). We came in Thurs night with a cough, fever and dehydration. They started her on fluids and once she started urinating she was spilling Ketones like crazy and they her heart rate started rising (even when her temp was down). We got her stable somewhat with IV fluids but they wanted to admit her so we could get her back up to tollerating feeds. Well after 24 hrs of waiting for...

I know of a family whose youngest is sick, not hugely but enough that they investigated. It is a mito disease apparently. Now the three older siblings are tested (one via biopsy) and they all have the same, however, they are all nearly fine, other than what I would say could be normal childhood blips like an odd migrane, odd constipation etc. So my question is...........is mito always progressive? These kids (the older ones) are VERY NORMAL, for lack of a better term. So now the mother...

I am coming to you all because I am at my wit's end (if i ever had any wits to begin with...) Kendall was admitted to CHW last nite due to ???? I don't even think i know. We know she had been having high HR's for the past week or so, which kind of came to a head on Wednesday morning when she was in the 215 range (still sleeping) with a fever. She never gets a fever. I packed her up on continuous o2 (1L), continuous j-feeds of pedialyte, and we went about our day. She was listless, but not...

Well it was yesterday, Jack was still too sick so I didnt have enough time to get on here. Unfortunately he developed a horrible wet cough and a fever on Wed. night. Thankfully his fever is down today but is still struggling with that awful cough. Poor kid missed his class party, a playdate and his class music concert lastnight. But isnt that the way it goes with our kiddos. I cant believe he's seven, he can pull off six but not seven! For pictures and tribute to my little guy-...

We always seem to be struggling with this question. Like all of you we have had many hospital stays but they often seem like a waste of time as all the hospital does is monitor Flynn and release him a few days later. Added to this as he is tube feed we are able to make sure his gets enough nutrition and fluids at home. I guess my question is when do you decide things are bad and what are the signs? Flynn has been off for the past week, he is sleeping excessively (16 hrs a day sometimes at 16...

How do you tell the difference between movement issues (or I should say walking problems) related to ataxia and those related to muscle tone/strength and instability??

Finally getting a chance to update after a 4 hour adventure at Children's this afternoon :think_dizzy: Anyway, I'll start with his response to my ataxia vs instability (http://www.parent-2-parent.com/forum/showthread.php/25681-Ataxia-vs-instability). He said Matthew is clearly showing both in this video and with his walk in the office today. He recommended a trial for higher braces to see if it would help with the knee hyperextension BUT said that bracing does NOTHING for ataxia so we may...

So today we had Elijahs muscle biopsy scheduled. We had to be at the hospital at 545am and I thought that much like when Caleb had his biopsy a little over 2 years ago that we would be home in a few hours after the biopsy....boy was I wrong! They took Elijah back for his biopsy at about 730am, and all was going well....they had given him a small dose of versed to calm him, because he unfortunately has "white coat syndrome" -major fear of doctors. So once they gave him the versed and it kicked...

I posted a thread last week regarding Joseph's anemia labs and his decreasing retic count. Well, I found out a little more. In addition to the decreasing retic, the set of labs from last week showed that he is producing abnormal RBC's. I don't know if anyone knows anything about this (I certainly didn't until last week :think_dizzy:) but some of the abnormal cells he has are spherocytes (this abnormal type was also found on the last set of labs), tear drop cells (also known as dacrocytes),...

Just wondering if this is possible. Bode has an appt. w/ his Neuromuscular dr next week and I am sure he has some ideas on the next tests to run on Bode. Bode has some features of the Biotindinease (sp) deficiency...alopecia, eczema, weird skin, etc. His dr actually mentioned this last time but dismissed it b/c he was tested for it on NBS and it was negative. Also, I had HELLP during pregnancy. I have told this to numerous drs. and they just look at me like "and". Well, I was looking...

Emeric had an appt. with Dr. K yesterday and she is concerned about his eyes. He has trouble with his downgaze and sometimes turns his head funny while trying to look straight at you. Those things coupled with paling of the optic nerves is pushing her to test him for the POLG mutations and she also mentioned CPEO or Kearns Sayre as possibilities. I don't think he fits either real well but she said they are worth testing & that POLG mutations would be consistent with his biopsy. She would...

After 3 long years of searching, we have a diagnosis for our Hudson. Dr. K in Houston told us today that he has Mito - Complex I. It was an overwhelming day, in many ways. All of you are truly the only ones I think who can understand how it can be so bittersweet. This is never the answer our family hoped to get, but there is such relief in just KNOWING. One of the big surprises today is that we found out Hudson has cardiomyopathy, so we'll be seeing a new cardiologist for that. One day at...

Anyone else finding that there is a very fine line between enabling inappropriate behavior and preserving energy? For example. Dinner time and after is a nightmare here. Ali usually comes home from daycare and crashes on the couch. By dinner time, she wants to be carried everywhere and will throw a major tantrum to avoid sitting at the table with the rest of us. She wants to sit on the couch (in a little sitting area off of the kitchen, so not in front of the TV) and be fed. After dinner,...