Finally Diagnosed, Oficially!

There's no ifs ands or buts about it. Quinn's new neurologist has officially diagnosed her with MNGIE. Quinn actually has a mutated TYMP gene for MNGIE, she also has MRIs reading that she has some minor issues with her white matter and corpus callossum... which are absolute hallmark symptoms for MNGIE. Her clinical history and course of disease is obviously progressive and highly suggestive of a mitochondrial disease. He said that plain and simply, he'd bet his life on it that she has mito and said that there is no reason that he can't diagnose her. and so, he diagnosed her sent paperwork into insurances and told us that it's a good idea to see Dr. B in CHLA so we can get started in some clinical trials.

Wow... I honestly can't tell you guys if I'm happy or if I'm sad... I mean, this has been a very long journey for us and I really don't want any question of whether or not she truly has this. I guess we don't have to question it anymore, but just the fact that it's taken t his long to diagnose it makes me want to question it even more! I mean... is this REAL? Is it for real for really real? And of course, after he told me that she has this... all my questions just escaped my brain. I wanted to ask him... what does this mean for her? what's her prognosis? What can we do NOW? what is the treatment? how can we avoid complications when inpatient? All these were questions I wanted to ask him, but I never expected him to tell me so bluntly that she has mito!




I've always known deep down inside that this was the disease she had. From the first time I looked up the symptoms, to now, when i actually do again... my heart just beats so fast when i read the symptoms list. She has almost all of them. Some are minor and some are major, but she fits the picture! And now we have finally solved the puzzle. We finally have some relief, but now i'm open to a whole different ballgame. Quinn was just diagnosed, for sure, with a disease that is progressive and very life threatening. It isn't expected to get any better from here on out. It's likely we will have pockets of good days, but the way her book is written, it will gradually decline into complete shutdown. this is the kind of stuff I was aware of, but never made into our reality, because Mito was still only a possibility. But now, it's our reality and we need to face it.And it can happen at any time. Remember back in November? When she went into the PICU... she almost died that night! It was possibly the single most scariest thing we have ever been through. We were so lucky we were in the hospital and it was taken care of so quickly. But THAT's how fast it happens.

I think that's a huge thing i will have to school her doctors on. Aside from her GI doctor, everyone else tends to take the "wait and see" approach... this approach doesn't work with a mito kid... it definitely has never worked with Quinn. Everytime we have taken that approach, the problem gets worse. We need to start taking care of her symptoms immediately as they come up instead of letting her get worse. It only tires her body out to where a minor issue becomes a major issue.

In other news: We discussed even more about Quinn's right side issues. I mean, it's always been an issue and it is discussed at every appointment. He is a new doc to us so he wanted to see her walk and I honestly just can't believe that he saw the issue. I mean in the office... to me! it was so minor I was just shaking my head waiting for him to tell me he saw no problems. But no... he said... "oh yeah, i see what you are talking about" and he then told me that because her EMG was normal and her tone seemed fairly normal, it was completely neurological adn then told me that it's highly indicative of mitochondrial disease. He believes her seizures are also coming from the left side of her brain (left side controls right side of body). One other thing that is notable is that when she gets sick, the right eye becomes droopy. it's very evident in a pic I took from when she was in the PICU. he said that he woudln't doubt it if it sometimes was better than others and said that there's really nothing we can do about it. it's all neurologically related and will likely not get better. Kinda sad, but at least we had some validation that there was an obvious problem. *Quinn has a toe drop problem, she also has obvious weakness on that side in taht it's harder for her to push her body up from teh stairs. when she runs, that foot just kinda flops around until it eventually trips her and makes her fall. She usually doesn't know when this will happen.. it just happens and she gets very frustrated... She used to wear an AFO for that foot, but we were told that it wasn't beneficial for her anymore because it was going to make her more hypotonic... well now that we know it's neuro, i don't think it would matter to get it treated. I was thinking SMO?) she just tells me she is tired of falling all the time and i know hen she had her AFO, she rarely fell. she's getting to the point that she tells me all the kids in school laugh at her when she falls.

So all in all a decent appointment. i wasn't impressed with his mannerism though. He seemed pretty nonchelante... But his information seemed accurate and knowledable so i'll keep giving him some chances. I'm really looking forward to our appointment with dr. B.