GI doctor's update

Hey guys. We saw our GI doctor. Quinn is LONG LONG LONG overdue for a g-tube change. Her extensions are slipping and everytime we remove the extensions, because her belly is so distended usually, we get squirted with her nasty stomach contents. Meds leak out when I push them through.. yeah it's definitely time. But this time, the doctor is going to give her a g/j Tube. The J-tube is a tube that bypasses the stomach and goes directly into her intestines. this will be the way we tube feed her from now on. Since her stomach empties at such a slow rate, and she LOVES to eat by mouth, the formula with some solids throughout the day still causes her some serious distension. So we are going to try this out and hope it works. The only bad thing about this is that she has sleep apnea and is on oxygen, therefore, she has to be put out for this, meaning general anesthesia. This could go bad, but she did great last year for her MRI, so hopefully, we get the same results this time. She is bigger now and her breathing mechanism is more developed so it should be fine.

We also discussed the results of our latest labs... the one that completely ruled out MNGIE. Which lands us back to square one... obviously there is something going on with her, but what, we just don't know. Will we ever find the answer? Yes and Possibly are becoming a small pin light in this dank cave of  the undiagnosed. Quinn is happy. I know it seems strange, but for the most part, she is pretty healthy. We are able to sustain her growth and keep infections at bay easily right now. Her seizure medications have been working and the oxygen is keeping her very stable. She is does not seem to be in constant pain or agony and she adapts very well! So, we aren't really going to pursue anything right now. I don't really want to. I know i should go and see this Dr. Boles guy in CHLA, but I'm tired and exhausted. I get so down in the dumps and discouraged when we see a new specialist and they try to find out what's wrong, only to find everything normal. And on top of that, i just want her to be a kid. i'm tired of her being a pin cushion and if I have the choice (which I do right now), I'd rather spare her from the pain and suffering. So, we are treating the symptoms and continuing on.

The GI doctor said the fact that she has a high lactic acid level leads him to believe that that Quinn is suffering from some kind of mitochondrial dysfunction. She also has classic symptoms. However, there isn't much we can do since all her bloodwork for the mutations have all been normal.

As for me, yes, frustrating knowing that my daughter doesn't seem to be getting better and we won't know if she will or will not.. but i'm happy because my baby is happy. And she is thriving and alive and has the mind of the average 4.5 year old (which by the way seems like a mix of both our future teen years AND our past terrible two's) YIKES! she's so stinkin cute though!

Thank you for reading!

MNGIE Ruled Out...

For those that didn't know, Quinn was never "officially" diagnosed with MNGIE, it was just a probable diagnosis. She has a partial mutation of a gene called TYMP, this gene was found to be heterozygous, meaning that only 1/2 of her chromosome was mutated and the other half has proven to not be. therefore, she is a carrier, she does not have the other 1/2 mutation. The doctor tested her thymidine levels and they were found to be normal. Which means, Quinn's mutation is not disease-causing for MNGIE. Despite how certain the doc was that we found the answer, it is just not true. And we were completely discharged from the metabolic clinic. He told me to just treat the symptoms, take it day by day and she has had a very extensive look into diseases that might be causing her symptoms. he did say that MNGIE fits Quinn to a T. but unfortunatlely, we are unable to diagnose it. I asked her what she IS diagnosed with and he said that she fits a lot of the symptoms for mitochondrial disease, however she has no mutations in her bloodwork, so he just kinda beat around the bush saying that it's neither ruled in or out because it's still a new disease and anyone who has something wrong with them could potentially have something wrong with their mitochondria. From what I've read, Mito is best diagnosed through a muscle biopsy. These guys never mentioned it. I took the few 7 pages of records that they would give me and Quinn's lactic acid level have done nothing but climb (was 2.8 in 2006 (normal range 0.7 to 2.1 mmol/L) and in 2009 it read 3.2... pretty sure it was tested again and read 3.9, but i didn't get those results) she had a very slight amount of urine tiglylgycine and "essentially normal" pyruvic acid at 0.18 (normal range 0.08-0.16 mmol/L) "no real firm evidence of metabolic abnormality".

We had so many people come in and out of the room looking over her results and checking her out. Pseudo-obstruction was thrown around and weakness and all this crap. They all looked like they were just scratching their heads... obviously, my daughter is not healthy. She's ok, but she's not healthy. So, another door closed. We were told we do not have to come back. My friends and family still feel though that we should seek out This Dr. Boles guy out of CHLA. I just want to give up now. What's the point in finding out what's wrong with her anyway? Is that really going to change the course of her treatment? If it was anything curable, they would have found something by now. She's not in immediate distress, she doesn't live at the hospital. She's stable at home with me most of the time. That's all that really matters, isn't it?

anyway, Quinn's stomach is back on strike. So that means back on the tube feeds. Does ANYONE know a way that i can feed her, but not really feed her? She jsut loves loves loves to eat!!! I HATE taking that away from her. How can i feed her real ppl food without it actually going into her stomach? lol! it's not even possible...

One day at a time...

Good few days

Quinn's Grandparents flew in to see her the past few days. I must say, i was a little worried as it is very hard to take Quinn out a lot with her connected to the feeding tube and oxygen. Well, she has had a pretty decent few days!!! I mean, i'm actually impressed. She has even been digesting food fairly well with minimal bloat. So today, I decided to have her unhooked completely! off everything all day today and just give her some real food. She did exceptionally well. I let the gparents take her to a few places and a movie by themselves. If she was hooked up to everything, neither I or they would have felt comfortable. She had a good day. She ate real food and spent time off her oxygen. Tonight, she just has a stomach ache and a big belly from dinner, but nothing too serious. It was a good day to take her off her supplements. Though she is very stable with them, she is not UNSTABLE without them, if you know what I mean. In other words, she does do better on them in the long run, her problems are chronic, not acute therefore, the chances of her being able to come off the feeding tube and o2 indefinitely are slim to none at this point. But a day without will not harm her, i do not think. Especially in special circumstances, such as today. It's nice to let her be normal for a little bit.

She also had her swallow study yesterday. She did great! The lady said that she did penetrate on thin liquids, but that she did not see any aspiration. which is GREAT! She said she will have to look over it more thoroughly and in slow motion, but she thinks Quinn's swallow is safe. one thing that is noted is that she seems to swallow a lot of air. This could be in part due to her paraesophogeal hernia. She said that she will give the results to the doc and he will decide what needs to be done about it, if anything.

So, all is well in our neck of the woods. I love how spring is here and summer is coming. I like to spend all my days outdoors in the late spring and into late summer/early fall. So we will be keeping ourselves busy of course. I hope summer treats Quinn nicely.

Tube Feeding Woes

It's getting very frustrating keeping Quinn practically NPO. It seems that the erithromycin isn't doing much more than just the Reglan was doing. though she is able to tolerate 35ml/hr without much problems, if i go any higher than that rate, we tend to fall into some minor issues with gut pain and bloat. Nothing like what it is though when i put her on just solids. I do tend to give her tiny amounts throughout the day if I can. Stuff like popsicles, lollipops, some juices and etc. But meal times for me have to be about the most heartbreaking. She looks at my food and practically begs for it and unfortunately for her, I usually have to say no or just give her a teeny tiny bite. but it's never enough. I've been dealing with some massive temper tantrums. I feel like we are rolling back into the terrible twos. I'm talking kicking, screaming fits. And it does usually involve meal times. She's sitting in the corner right now throwing another massive fit because she says to me as I'm preparing her tube feeding "I want real food!!! I don't want that!!!" and i have to tell her that I can give her a little tiny bit of real food, but we have to put the feeding tube on. And well, that started it. The massive fit has been going on for about 15 minutes. and she is punching her backpack saying "I DON'T LIKE IT!!!" No, she isn't like this every day, but days like this make me want to dig a nice deep hole in the dirt and bury that damn thing. I hope that one day, we can find some way to make it to where she can eat something.

I've been so sick for the past few days. finally, i'm feeling better, but i think i passed my illness down to Quinn. She has been sleeping all morning! like just falling asleep on the couch, which is so not like her, it can only mean one thing... the booger is fighting off something probably this virus. I hope it doesn't kick her butt.

She had her swallow function study done with the speech therapist. She feels that Quinn's swallow is good, however her oral motor function is not that great. She STILL pockets her food, thrusts her tongue, and lacks coordination in chewing. Even though I do nothing but work with her on her swallow when she CAN eat. But at this point in time, since she's unable to eat anyway, there's really no reason to worry about her oral motor function. if it sucks, it really doesn't matter. as long as she is safely swallowing liquids. So she is scheduled to have a Modified Barium Swallow Study on the 7th. i really HOPE that she is swallowing liquids safely as i would HATE HATE HATE to take the ONLY thing that we can give her away.

Long and Grueling Day

today was sucky~ First, i finally passed out at 4am!!! I woke up at 645am and had to give Quinn eyedrops to dilate her eyes for the opthalmology appointment at 9am. So we started heading there around 745am. got there a little late. Was having issues getting out the door on time... oooppss. so we get there around five minutes late, wait in line and finally check in at 922 am. Quinn had a neurology appointment 15 minutes away at 1030. we were suppose to be in and out of there. At 1000, i started complaining about my wait time, then we finally were taken back at 1010. I asked them how long this was oging to take, they looked at her eyes for a minute and said that the doc would be in there to determine if she needed glasses or was experiencing degeneration in her eyes. Well, 1025 rolled by, we didn't see a doc so I just left!!!! Quinn's neurology appointment is WAY more important than an eye doctor appointment. We arrived at neuro 10 minutes later :( ugh!!! i was so pissed!!!  I dilated her eyes for no apparent reason!!! And we woke up super early because of it. I guess the only cool thing is that Quinn slept the ENTIRE TIME!!! literally. she slept when we left, she was snoring in her umbrella stroller while in the wait room, woke up enough for a little eye exam, then slept on the way to neuro and slept in the stroller and woke up again when they were getting her vitals. So silly! she honestly has been having a rough couple days, but i think ti's because I fed her pizza on Saturday... shame on me :( it's so hard to not give her food!

So anyway, the neurologist: She said that she thinks Quinn has MITO and should be on the MITO cocktail. LMAO!!! i'm sorry. I can only think humorously about this in order to not get pissed. I wonder how many times I have mentioned that I felt that she had something called MITO and how many times eyes have been rolled or I have been laughed at. So anyways... she was explaining to me about all the chaos from January's hospitalization. She said that it was a madhouse in Loma Linda and that she was trying to get Quinn admitted, but it was impossible. So she was sent to CHOC. She first asked me what I thought of CHOC. I said the nursing staff was great but I hated the doctors. She said that she had some major issues with the residents as they had no idea how to treat a child with seizures and all the issues Quinn had. She felt that quinn was discharged way too fast (2days in ER and finally admitted to CHOC and was dishcarged in 24hours) She said the residents called her every hour and during the night about how they are suppose to treat a child like Quinn... and then they discharged her, before she was really that well. She wasn't even walking unsupported when they discharged us! I think they just didn't want to deal with us because I was really pressing the issue on trying to get her accurately diagnosed so we can know what we are treating here. Anyway... too bad all that played out like that.

so, I updated her on what's been going on the last few months. Things suck. All her EEGs have come back not really clean, but not really  indicating seizures. However, we KNOW she has serious full blown grand mals. It's documented in hospital, on 911 records and of course, we have one of them video taped. She still wants to try for another EEG to see if we can pinpoint the best way to treat her seizures and what meds will help. However given the fact that Quinn hasn't had a seizure since she was put on o2 24/7, she thinks strongly that it is related to her respiratory drive. Even then, Quinn is going to have yet another EEG.

And about her MRI from a year ago, the one that only showed an abnormally bright white matter and was "essentially normal"... but wasn't too much to indication leukoencephalopathy... well, that's a big red flag for MNGIE, which is what she is being worked up for. It's likely leukoencephalopathy, but the doc feels that she is pretty high functioning cognitively so we aren't officially going to diagnose her since it was just a little off and not a lot. She will have a repeat brain MRI in six months or so. The doc is concerned with putting her under too many times due to her central apnea and oxygen dependency.  If the tests for MNGIE come back indicating that MNGIE is unlikely, she wants us to go through with a muscle biopsy... which might be a good time to do her MRI... She feels strongly as well that Quinn does in fact have MITO. She also talked about the geneticist that we saw when Quinn was two... and I told her that the geneticist said that Quinn is the healthiest kid he sees and she said "well that's not very helpful".

We are to follow up in 2 months.

She gave us a prescription for a medical stroller :) and one to get her started in physical therapy.

Quinn's belly is giving her problems... AGAIN!!! on only 35ml/hr of formula. i hope it's just a fluke and something she just needs to work out of her system, but omg! seriously! I'm getting so tired of this. It's stressing me out! she begs me for food. she says her tummy is hungry and when I give in and give her food, she suffers because of it! I just HATE not being able to feed her. I feel terrible eating in front of her.

This weekend, Quinn went bowling for the first time with mommy and Joe. Joe is SSSOOOOO good with her! he's amazing! and she loves him.







And to end the entire day... a little good news and a little sad news. I had to say goodbye to my super awesome VW GTI. Unfortunately, Quinn's needs are not practical for that car anymore and it is getting harder for me to put her in the tiny two door car. Plus, her having oxygen and feeding tube, things just don't fit in the trunk for a day out at doctors' appointments or things like that. 

Goodbye my sexy car 



Say HELLOOOO to my NEW baby! :)

The past few months

I created this blog so that way family and friends have an easier way to read up on the happenings of Quinn. So many people have touched our lives in so many ways throughout this journey, teachers, nurses, family, friends, even some friends we have never met in person. Thank you for all the prayers and support.

So, 2009 was Quinn's super healthy year. Although I kinda still had a feeling that things weren't quite right, I felt that Quinn was getting better and doing very well and by the end of the year, we felt that it was safe enough to continue to watch her thrive and slowly wean her from her medications, oxygen, and g-tube. Unfortunately, this was too much for Quinn's body and during our g-tube wean, Quinn started having grand-mal seizures in January. She had a series of multiple seizures in a matter of 3 days and Quinn was taken to the hospital by ambulance due to the seizures.  There, she continued to seize and was given IV anti-convulsants every six hours and she was diagnosed with another case of pneumonia and an Ileus in her bowels. (which is a fancy word for very slow motility) She was started on IV medications and hospitalized for only three days. She was taken to a different children's hospital than our normal one. Quinn was very sick. She had to have a critical care nurse by her bedside, she could not sit up on her own or walk and was dependent on oxygen. by the time she was discharged, she was walking a little bit with support. When I talked to the neurologist about how i felt that Quinn had a lot of the symptoms of Mitochondrial Myopathy, I was shot down, AGAIN telling me that my daughter was too healthy to have Mito and that if she did have it, she would have never gotten better after she was in the NICU. Funny, Quinn has NOT gotten better since the NICU. She also told me that Quinn would regress with every sickness and would take months, not days to get skills back. She said that looking at her records, Quinn has been chronically sick enough that she would expect Quinn to be sicker by now. So... we left again, loosing faith even more that we would ever get to the bottom of what is going on with Quinn.

Interestingly enough, we had a follow up with her metabolic doctors and they told me that Quinn had a partial mutation of a gene, suggesting that she has a form of Mito called MNGIE. As rare as mito is, MNGIE is the MOST rare form. So she had some more blood drawn to confirm the diagnosis. the doctor seemed pretty confident that this is what we are dealing with as all her symptoms seem to support the diagnosis to a T.

From January to today, we have had two follow ups with Quinn's GI doctor due to her increasingly difficult stomach problems. Quinn's stomach was bloating up terribly, she looked very pale, she was very tired, she had dark circles under her eyes. Though she was gaining weight, she wasn't doing well. The result: Quinn is no longer able to digest table food. She does not have the energy to do so, even on two motility medications and so now she is on a 24/hour continuous g-tube feeding. She also continued to have seizures and her oxygen requirements continued to become more and more frequent and now, Quinn is on oxygen 24/7. Quinn has not been the same since she was sick in January. Her tone is lower, she can get more tired and she can become very lethargic, particularly when  I try to feed her regular food or if i try to increase her feeding pump rate. Since Quinn was placed on the continuous feedings and the oxygen, and her seizure medications have been increased, she is doing much better.

She has had follow ups with pulmonary, GI and metabolic. And coming up she has follow ups with neurology, and opthalmology. What is the funniest to me about all this right now is that, all her doctors are telling me that she definitely seems like a Mito kid and now, she has a clinical diagnosis if Mitochondrial Myopathy.

Working On Site

Please be patient as I continue to make this site better. I'll be starting to post blog updates soon.