Our Day At CHLA

We left early... like at 5am. We were attempting to do 1 of 2 things... beat morning traffic and arrive early, or be able to survive morning traffic and arrive just in time. Luckily, we beat the traffic and arrived early, which was ok because there was just a lot of stuff to unpack from the car, plus Q had to go pee and that's just not a quick thing to do with her. We still arrived an hour early. The staff was all just so generous and sweet... definitely a different demeanor than what we normally get at Loma Linda... Q was exhausted! the minute we got into the hospital and she peed, she just conked out! 

 

 

 

Unfortunately, we had to wait a while before we were able to see the Dr. but once we were able to see him, he spent an hour and a half with us! I didn't even have to give him a detailed summary of her life... he had already done his homework and the thing that impressed me the most was how accurate he was. Before we really got into detail about just Quinn, he discussed with me what he thought the problem was. He said that she has dysautonomia, which would explain why she has good and bad days, why her blood sugars can be so up and down so fast and why she had all kinds of just whacky stuffs going on with her body that are just unexplainable. Her ataxia was one major thing... those times when she is just exceptionally ataxic and there's no real reason as to why, it's completely autonomic in nature. He said he rapid heart rate, her blood sugars, her breathing, her stomach motility... basically everything can all be attributed to dysautonomia. As he is sitting here telling me all this, I'm thinking to myself, he's going to tell me, it's not mito. LoL! So, after he goes into great detail explaining how the dysautonomia affects Quinn and what it means for her, he then told me that her dysautonomia is caused by her mitochondrial disease. So yes, she absolutely has mitochondrial disease. 

He then went into great detail about how the mitochondria work in our bodies and how it is not working very well for Quinn. He had answers about what happened to her in November and he told me that it will NOT happen again so long as the doctors follow his protocols on how to treat Quinn's disease. 

 

For all the doctors that have ever told me that Quinn was just a "medical mystery" , Dr. B told me that he treats 20 patients that present EXACTLY like Quinn... PRECISELY! this actually gave me goosebumps! Quinn is not the only one! 

About MNGIE... I just wish San Diego could have gone into greater detail on these results with me. Quinn has only 1 mutated allele... and it was sent off to two different labs to examine the gene... both labs were only able to identify 1 mutated allele. If there were two or if the results differed from each other, he would be more inclined to say this is the exact form of mito that Quinn has, however, it looks like she is just a carrier. However he also told me that that's not to say that this mutation is NOT the one causing her problems, currently it is just not recognized as disease causing, and there are very few patients who even HAVE this mutated gene... so basically, Quinn is DOCUMENTED! He believes the mutated gene is likely a PIECE to the puzzle, but is not THE puzzle.... we want to find THE puzzle. 

 

We then went over her current treatment plan and what we are going to do to tweak it. He said that her Periactin can actually be doubled if that doesn't help her pain (he calls it abdominal headaches), then he wants her to try amyltryptaline or something like that... Also, her carnitine is going to be tripled. He is adding CoQ10 to her meds as well. He feels that since Q is on continuous feeds, cornstarch is actually probably more harmful for her than beneficial, the reason is that it is more stuff to shove into her gut and is known to cause problems in slow GI systems. He recommends discontinuing that treatment. 

As far as the PICC line... unfortunately, he didn't give us much hope that she would be able to get off it anytime soon, if at all. The reason being is that her pseudo episodes seem to be severe enough to warrent either frequent hospitalizations or some form of IV nutrition/hydration. Plus, she is chronically dehydrated already without it, she's on such a low rate of tube feeds, that we would have to push a lot more feeds. Right now, he wants her on D10 IV fluids if she needs to have her feeds turned off for more than 3-4 hours and she needs to be on TPN if she doesn't get feeds for 24 hours or more. The reason for this is because of her autonomic crashes and he doesn't want a repeat of what happened to her in November. He said that Quinn is showing that she needs a constant form of nutrition in her body in order to avoid potentially life-threatening risks. And as scary as that sounds, i COMPLETELY agree with that! However... i'm not ready to admit defeat right now. i still feel that TPN is off the radar. as much as it's being thrown around right now, I do not feel that it is vital to her well-being at this moment in time. I'd rather save her liver and continue with the hydration. I DO however like the idea of TPN if she has to be off tube feeds for more than 24 hours. (but that would be temporary and done in a hospital setting). He is going to send her GI doc a calculation of what ingredients/mixture or whatever to be given in the event she needs TPN. 

 

The plan: there's some new testing that he wants Quinn to have... it's called mito nucleum and mito DX. Neither of which are covered by insurance... one of them costs 3000 dollars, the other costs 16,000! We have decided we are going to have a fundraiser to raise money for the 3000 dollar test. This test might identify the TRUE disease causing gene in Quinn. Dr. B feels that since there is a lack of maternal symptoms, Quinn's issues are likely in the nuclear DNA. Given how affected she is, he strongly feels that we will find the gene, however of course, he wouldn't give me any promises. There's a small chance that if we paid for the testing, CCS might reimburse us, it's a small chance though. I'm going to get started quickly to try and raise money for both the pulse ox and the testing. I think we can do it! 

We are also to get a "quantitative urine organic acids" test done. this is done through her urine and it can only be done when sick. We can do this at home! The only bad thing about this is, Quinn's immune system is phenomenal! She is rarely if ever sick with true illness... it's normally bowel issues, which is truly serious, obviously, but not infectious. So this will be difficult, but i have faith that we can get this done. 

 

Before we left, Quinn had a ToN of vials of blood drawn to test her nutritional status, her coq10 levels, carnitine levels, a CBC and probably some more cuz there was a lot of blood. the coolest thing is, she got to have her blood drawn throug hher PICC line! and boy, they were so sweet! they gave her a book about a boy and his PICC line and they gave her a baby to play with and do an IV on. she was a trooper! i was honestly touched by the kindness we received while we were there from all the staff we encountered. It was amazing. 

Dr. B recommends that we bring Quinn to his hospital in the event that she needs hospitalization. I LOVE her GI doctor though... he is going to write out a protocol letter for Quinn and I am hopeful that it will be enough, however if we run into issues (which i dont think we will because all her doctors seem to be on the same page and we have all been on edge waiting for this appointment), I will go the CHLA. 

 

I am to email him in 1-2 weeks to get the dictation from our appointment (if i don't already receive it by then), I am to email him in 2-3 weeks for the results of her blood tests, and I am to email him in 3 months with an update to see how the new treatments are working for her... and to update on any new developments. 

Oh, one other thing, he gave me a list of meds that she ABSOLUTELY CANNOT HAVE and he wants me to monitor her ketones... I am able to get a prescription for that! ...

 

One thing that he was unfortunately unable to help me with, is getting her probiotics  and pulse ox covered. :( that makes me so sad. 

Oh and he also thinks oxygen can be toxic if given too much for her... without a pulse ox to monitor her regularly and especially at night, i will not be taking her off it, however if we can get a pulse ox, I will be able to monitor her more closely and she will likely be able to have more time off the o2, until then, she is still o2 dependant and he was completely alright with that. He told me to do whatever the pulm doctor recommends. 

 

Wow I think that's enough. I'm pooped! we get to follow up wiht him in 6 months I do believe. 

To make light of a sad situation, I got to meet up with a fellow mito mama. Kris and Kylee go to CHLA often. Kylee is 7 and has a separate J tube just like Quinn. Kylee was back in the hospital again for another bowel clean out. her motility is so poor she's been in the hospital every month to clean out her system. Poor girl. She seemed to be in good spirits though, I hope she gets cleaned out sooner rather than later. she's a cute little girl and her mama seemed so nice too.