[MotherWhimsey]

Linden's been super weird but not "sick" since this past weekend. The most noticeable and unusual thing is that his sleeping heart rate dropped by 40 BPM and he had brady's all night last night. His perfusion was going up and down all night too. On a whim I went and had a CBC done trying to see if he had an infection. Here are the results:

WBC 2.2 (low low)
LYM 1.6
MID 0.3
Gran 0.4 (low)

RBC 2.45
HGB 8.1
HCT 18.4
MCV 75.1
MCH 33.1
MCHC 44.0
RDW 14.6

PLT 95
MPV 9.5

I'm waiting to hear what the Dr wants to do, but wanted to know what exactly this means.

 

[MotherWhimsey]

Wow, so I called his specialist in Houston and we have a diagnosis for his disease. He has mito complex III with defeciencies in complex I and II. I'm shocked. I don't think that this is related to his latest lab test though. I'm just shocked.

 

[snuggly mama]

I'm not a nurse (though I play one at home

), but those are some seriously not good labs. My dd is on immunosuppression and still has a WBC of 5-6. A 2.2 would get her admitted ASAP, as would the low Hemoglobin and Hematocrit. What did the ped or doc say about these labs? Any follow ups planned?

 

[sbgrace]

A diagnosis. A diagnosis. How do you feel?

I'm really glad you got an answer, even that answer. What does Complex III with deficiencies in I and II mean? Does that meannot functioning optimally but still functioning at I and II complex but not at III?

I hope you get an answer on his CBC too. Did they re-draw? If that number is right it sounds scary.

 

[mamaverdi]

Wow, a diagnosis. Congratulations, and I am so so so sorry.

Have you heard from the ped about his CBC? That's not looking too good there.

 

[MotherWhimsey]

no, I think all the dr's are getting their info in order. The diagnosis came while I was waiting for our ped to call me back. So this has thrown some new info into the works.

I'm just in shock.

I'm alternately happy we know and then weeping. I mean it's not a great diagnosis, but we know. And for that I'm thankful. But I just thought the searching would go on and on forever.

I'm not sure what I think about his labs from today. I was just so shocked at the change in his HR that I figured something was going on. They let me come in for 'drive by CBCs" where I just show up, they do it, give me the results, and we go. It was the same today, but halfway down the hall, the nurse stopped in his tracks and turned around back to the nurses station and said "make sure he sees these," and that's when I knew they wouldn't be good.

What can you do about labs like these and they said that they meant a few things, not just one. one was immuno suppression, one was anemia and I don't remember what the other was. But of course all that takes more labs to establish I'm sure.

I'm just so shocked. I don't know what I think.

 

[MotherWhimsey]

oh and the I and II part are deficient, but not as bad as the complex III. he also had some other stuff show up but I don't know what any of that means. something about transport chains and an increased citrate synthase activity. but I don't know what all that means.

 

[aja-belly]

wowee a diagnosis. that is BIG.

 

[gsmom]

mama. What bittersweet news (the diagnosis). Any news on the counts?

For what it's worth, when I was at the UMDF conference one of the speakers said that when one complex is affected, typically several others are as well. They are way more interrelated than what it looks in a diagram.

 

[jondee0]

I don't know much about mito disorders, but this sounds like really big news. As you learn more details about what this might mean for Linden and your family, I hope that you have some peace and some hope.

Joni and kids, incl. Gabriel

, 9, T21 and autism, and Michaela

:, 11, syringomyelia

 

[2boyzmama]

Oh Courey!

I found Connor's diagnosis to be welcome, heart breaking, comforting, releasing, stressful...all of the above!

I am off to google Mito Complex III, Def I and II. Please update when you know more...

Any more word on labs yet? First thing I would think is a retest, because WBC that low, combined with a low hemoglobin is concerning. When Connor had a hemoglobin in the 7s, we got an "urgent" call from the dr telling us to get to the hospital ASAP (he even told me to not infuse his PICC line until after we got to the hospital). A retest (this time drawn from a vein and not his PICC) came back in the 9s, so we avoided intervention. From what I googled while waiting in the lab was that a hemoglobin that low may require a transfusion of packed red blood cells...but that is probably very dependent on symptoms, history, etc.

Keep us updated please! I'll be thinking of you guys all night.

:

 

[MotherWhimsey]

we're inpatient for a transfusion. it's like our "welcome to the world of mito" present. at least we've got internet.

 

[suprgrl]

Oh wow!

I can only imagine the mixed feelings you must be having. My thoughts are with you and your precious boy.

 

[MillingNome]

Quote:

Originally Posted by MotherWhimsey we're inpatient for a transfusion. it's like our "welcome to the world of mito" present. at least we've got internet.

When I saw the numbers I thought he might end up getting a transfusion. I'm glad "it" has a name now, knowing of course it is bittersweet.

 

[mamaverdi]

I'm glad they are taking it seriously.

 

[OMama]

Wow. This is a lot. I'm so glad you finally have a diagnosis. That is huge. I'm sorry things are uncertain and scary too. I hope all goes very well with the transfusion. Sending you and Linden lots of positive thoughts and prayers.

 

[MotherWhimsey]

well his labs look okay now. No clue what is up with that, but I'll take it cause it means no transfusion for now.

but now that they have us in here they're keeping us. They want to do a sleep deprived EEG tomorrow and consult with Endo and complex care.

Complex care is kinda hard to take. It's too early to jerk me completely out of my lovely little bubble of denial. But I'm sure it can be a good resource so I'll do it. I just don't want to be at that point, you know? Like, why in the world could it not have been one of the good mitos (did I just say "good mito"?!?!), the complex IV where they can spontaneously get better? Oh well, you deal with what you've got.

 

[mamaverdi]

Your area may vary, but here, complex care is not the same as palliative care. And not just here: not all kids w/palliative have a DNR.

 

[MotherWhimsey]

well I'm telling myself that this is a little hospital and they're bored, so that's why complex will take him. I mean he does have a lot of dr's at several different places, but I've kept them all straight so far. Maybe he'll actually get them to talk to each other. wouldn't that be amazing?

 

[kittynurse]

I'm sorry I don't know enough about mito to know what this diagnosis means for you but I thought you could probably use some extra hugs

I hope that you are able to get some rest tonight despite being in the hospital.

Martha