My Thoughs on MNGIE

Ok, so... hmmm.... thanks a lot Quinn for giving me such frickin random drama. She has a way of making me feel so insane sometimes! After a few days of sats in the 80s, the past 36 hours, she has been in the high 90s, consistently. I was starting to doubt the pulse ox and thought maybe it had broke or something with her constant readings of 80%, but now i have NO doubt in my mind that it is at all broken because now we are taking her saturations, same as we always do and they are in the high 90s. so, what the heck, Quinn? We were suppose to get a bad blood gas reading so we can stop running into insurance poopiness, but we can't get a bad blood gas reading when you are saturating in the 90s. and we can't get treatment for when you have bad sats if you are going to stay in the 90s for over 24 hours. UGH! I'm so tired of the games. so, with this, i have NO idea what's going to come of getting her oxygen approved. It's absolutely ridiculous and is seriously stressing me out. I know this sounds wrong on all levels. but i really hope she is just doing the Mito thing and having random days of feeling well. soon enough, she will tank again... because i'm so done thinking that maybe she will just get better and that maybe she really doesn't need her o2. We have done this 2 times already and she fails the o2 wean.

In other news. A fellow mito friend of mine who lives in my county invited me to go to this UMDF meeting thing and meet with Dr. C from the Cleveland Clinic. He is a very well known and respected mito doctor. I was really excited about going. even though walking in there, I was still incredibly doubtful that anything he had to say would have anything to do with my child. I walked in there expecting to feel more relieved that she didn't have mito. I definitely did not expect to feel so absolutely certain that Quinn has Mitochondrial Myopathy. I had a lot of questions.

the way they described mito made my heart flutter as although they were speaking of a car, that was exactly how it is for Quinn! Basically, picture an Escalade. On the outside it looks perfect, nice rims, no dents, beautiful. Everything works wonderfully, but over a short amount of time ,this headlight starts to dim and so, you take it to the headlight doctor and he replaces the headlight. So the car is back to being good as new. the headlight is shining brightly for a little while, but shortly after, the headlight starts to dim again, and so you think ti's maybe a battery issue, so you take it to the battery doctor and he replaces the battery and says ok... problem fixed. The car is running like new again, headlight is working beautifully for a short while, but then, it starts to go out again. So then they think that maybe it's an alternator issue. so you take it to the alternator doctor, then he fixes it up and replaces the alternator and again, the car runs smoothly for a short while, but the underlying problem is still there. The problem is not the headlight, the battery or the alternator. the problem is that somehow, somewhere, the gas is not getting to the parts of hte car it needs to get to, and so then it develops symptoms, just as a child with mito. A child like Quinn. Quinn's body has worked exactly like that! first, it was her breathing, take her to the lung doctor, ok, we fixed the problem, then it was her heart, take her to the cardio... ok we fixed the problem, then it was her GI system, take her to the GI doc, ok, we fixed the problem. Then neuro, take her to the neuro, ok they fixed the problem. But now, she is still having breathing issues, heart issues, GI issues and neuro issues. The underlying issues are not in those body systems, but in her mitochondria. She cannot produce the energy to keep these systems running like they should. And the only thing that these lung, heart, stomach and brain doctors can do is to treat her within their specialty. They aren't looking at the fuel taht isn't getting to these body systems.

I learned that these doctors who are well known have people coming from all over the country, people like me, who have taken their children to doctor after doctor after doctor and have come up with nothing.

So, after a few people started asking questions and listening to others' situations and how he replied to them, i just couldn't believe that much of these stories were just like mine! and I had a lot of questions.

A little history about HOW quinn came to the "clinical" diagnosis of mito and why we are still seeking out a better doctor, hopefully Dr. B in CHLA will be this better doctor.

Last year, Quinn had her blood taken for the TYMP gene, which is the gene responsible for the Mitochondrial disease, MNGIE. Expecting nothing, I never rescheduled a follow up and figured that nothing was found. Much to my surprise, I was called multiple times to come back in because the doctor needed to speak with me about some test results. by April, 2010, i couldn't even remember the tests that she had last year. I was shocked when the doctor told me that they may have found out waht is wrong with my daughter that would explain her issues to a T! Quinn has a mutated TYMP gene. All that was left was to check her thymadine levels, if these were found to be high, that would indicate that the enzyme was not being broken down and therefore she would be diagnosed. I asked the doctor... "what if the thymadine level comes back normal?" He wouldn't even go there, he said given the mutation and the symptoms, there is a very small percent chance that it would come back normal. we discussed the disease in detail as the doctor was very dead-set that this was what she had. A few months later, the test comes back, and it is normal. I was dumbfounded, shocked and sunk into a very dark place... back into the undiagnosed category.

Dr. H came and talked to me and said that because of this, she could not be diagnosed. I asked him what she has then and if she has mitochondrial disease and he specifically told me that he could not tell me that answer. He said that he wasn't going to say it was and he wasn't going to say it wasn't. Just that it could be we just haven't found out where yet. He discharged us and told me to take her home, love her and hope she gets better. he said if she gets worse, to bring her back. Well, this was before her stomach started having pseudo-obstructions.. so yes, in many ways, she actually has gotten worse, but i haven't taken her back. The last appointment was so discouraging and I really didn't want anyone to discourage me anymore. And so we lived with this.

A few months later, i get a letter in the mail from her special kids insurance stating that she has been approved for follow-up and treatment for mitochondrial disease.... WHAT!?! i call the insurance company and they said that they got a packet of paperwork with a diagnosis of mito. So I just decided to go see Dr B in CHLA.

Basically, i gave Dr. C a brief explanation of all this... specifically i wanted to know what the chances were that she has all these symptoms of Mito and actually DOES have a gene mutation for MNGIE, but she is still undiagnosed... how could this be? he said that mito in itself is still in its infancy, but MNGIE is so rare there's only a handful of patients who have even tested positive for this gene. He told me what he would do if Q was his patient is really not much different than what San Diego did... except he would have written a protocol letter and stated that she was highly suspected of having this disease and the precautions to take with a child with mito, and told us to come back in a year. so basically, the answer still remains, she may or may not have it, but technology just hasn't caught up with testing for this particular portion of mito.

so, i honestly don't know whether or not to say that she does or doesn't have MNGIE. I hate being in the gray area so much. I hope Dr. B can help clear this up a little better for me.

Ok, here's the thing, I've done ALOT of research before on MNGIE when I was told that she had this disease. but I've done even more research now because of how Dr. C explained to me that there's still so much more research to be done. Even though I was told that Q couldn't be diagnosed with MNGIE because her thymidine levels were found normal, i'm still not convinced that she does not have this particular form of mito. for one thing, what are the chances that she would clinically fit this diagnosis perfectly, actually HAVE a mutated gene, and still not have the disease. that to me is a little strange. I came up with these conclusions:

A) the blood was handled wrong, which is a very possible hypothesis considering that the first time they took it, the sent it to the wrong lab and it was handled incorrectly, we had to drive all the back to San Diego to have it drawn again. Also, it's such a specialized test that is RARELY if ever ordered. Not many people with Quinn's symptoms actually HAVE a mutated TYMP gene. There's actually only 70 reported cases of MNGIE from what I've read.
"B) We didn't take it from the most diseased tissue. "It is important to examine the most significantly affected tissue and to measure TP activity and plasma thymidine in order to arrive at an accurate diagnosis in this condition."quote taken from Here

C) Quinn is on MediCaid, which is notorious for only approving the cheapest labs. This hypothesis could possibly be off the wall, but i wouldn't dismiss it.

D) the doctor probably did not do enough research to look further into her symptoms. the most clinically appropriate for MNGIE was Quinn's MRI. Her MRI show's a "hallmark" for this disease. I'll go into more detail in a paragraph or so.

Basically, MNGIE is the RAREST form of mito... mito which is rare in itself (though we are finding that it's probably more prevalent that we think) Still finding actual gene mutations for mito is more rare than diagnosing off clinical symptoms <-- my thoughts, not quoted. So, I feel that due to the fact that Quinn has such symptoms for MNGIE and that she has the gene, i think that even though her thymidine levels were found to be normal (if they were actually handled correctly) it should still be looked further into.

About her MRI, which strikes me as too on-target for it to NOT be MNGIE: I found This to be the most informative literature and couldn't BELIEVE how appropriately Q fits this diagnosis. so basically, what is so incredibly interesting to me about the asymptomatic leukoencephalopathy. In this article it states that absence of leukoencephalopathy is very unlikely in MNGIE. Originally when she had her brain MRI, this was noted, specifically in the impression quote: "subtle diffuse prominence of the cerebral white matter"... originally, the doc said that given that she basically wasn't retarded, it was probably just something to watch for now since she didn't show symptoms of leukoencephalopathy, however in MNGIE patients, it is shown to be asymptomatic, but a "hallmark" of the disease. Her MRI also explains thatt he "hemispheric white matter and corpus callosum appear prominent"... and in this article it says, " Relative sparing of the corpus callosum is reported in some individuals" Now i'm trying to figure out what "relative sparing" means because I have no idea if it can relate to what was reported in her MRI with her corpus callosum appearing prominent... Can anyone clear that up for me?

I know for certain that upon discharging us, her doctor did not know about this MRI thing, probably didn't even know she had an MRI and probably didn't think to look further. He likely saw the test results and was like... welp that's not it, bye! i'm not saying that this doctor is incompetent at all, I'm taking into consideration that MNGIE itself is so rare and that for a child like Quinn, who has a mutation, who presents with the right clinical symptoms of the disease, who they were so certain had MNGIE before the thymidine levels were taken, should not be brushed off so easily because of a normal test result and that it is perhaps something that needs to be better researched.

so, when we finally get our appointment for Dr. B in CHLA and when we FINALLY get to see him, I really hope he can clear all this up for me and explain to me HOW this child does not have MNGIE. Oh believe me, i will be quoting my resources and presenting to him my research.

this made me feel better about telling people, doctors, teachers that my child has mitochondrial myopathy. I still would like a solid diagnosis. However, I am hoping that Dr. B will be able to provide us with a better diagnostic approach.... better than San Diego.

Now that you have gotten through my book, thank you for reading my thoughts on this subject. I look forward to any comments anyone reading this might have.


Please keep Eithene In your thoughts and prayers. This child has endured far too much in her 4 years of life and is still struggling after spending pretty much an entire year in the hospital. She is a fellow Mito Warrior.


Please also keep Kyle In your thoughts and prayers. He too has spent too much time in the hospital and is still struggling with lung issues after an emergency surgery. These two need our constant thoughts and prayers.