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.

Ever heard of a "walk-in" surgery?

Ok so Quinn's j tube has been giving her massive problems, right? I was really concerned that there might be an abscess because it started swelling up the other day and I could feel some knots under the site. Quinn was trying to run at the park and holding on to her belly. the pain was just so bad. And jsut the fact that this had been there for a month... I tried scheduling a surgical consult but the consult could only be scheduled for March 3rd... unacceptable for a mom taking care of a 5 year old who has alreayd been in pain for a month... Taht was just for the consult too, not to mention scheduling the procedure. So i called up her GI doc and told him that I wanted it taken care of quickly. Let him know about the infections that were found on her site and etc... so he asked us to come into the hospital today so he could have a look at it.

And we did that. he looked at it and was pissed that it wasn't taken care of when we were inpatient... nor was it cultured when we were inpatient a few weeks ago. he said that he specifically told the GI team to clean it up and have it cultured... it was never done (rmemeber it was her peds office that cultured it). He didn't want her going home with this green crap and pain around the site.

So he paged Quinn's surgeon who came and had a look at it. Quinn's surgeon is head of peds surgery in her children's hospital... very busy guy. They said that we could have it taken care of right now! The procedure was extremely minor and it only lasted 15-20 minutes, but just the fact that it was taken care of so fast made me the happiest mommy on Earth today! Especially after she had been dealing with this for about a month now. i just was so happy! Her GI doctor is AMAZING!!! i'm so glad we have him on our side! Especially given all the crap we go through with this hospital. Her surgeon isn't bad either. They both care so much for quinn and seem to have her best interest at heart. I dont' feel like she is just a number when we are under their care. Seriously, it's taken years to get this kind of Doctor/patient/mom relationship. Unfortunately, i KNOW this will not change how she is treated inpatient unless she is admitted directly under their care, but I'm just happy today.

So they both did her surgery. they trimmed up the outside, put some silver nitrate on the granulation tissue, tried to squeeze puss out of her stoma, and the doc said they couldn't get much out at all so they felt that the knots we were feeling wasn't an abscess, but just some excess scar tissue. WHEW! they also re-cultured it and that was the end! She didn't feel any pain... sooo happy!

The doc also gave her an IV dose of antibiotics and consulted with Infectious Disease about antibiotics. who felt that she should also have Keflex? <--- I think that's the name of it. As well as the Cipro she has already been on. He also is going to try like mad to get her some prescription probiotics becuase the activia yogurt we try to give her everyday isn't cutting it (due to her motility).

We got all this done in less than 5 hours!!! and we were just a WALK IN!!! it was AMAZING!!! Even for scheduled appointments and procedures, this kind of thing doesn't happen for us! I was so incredibly impressed by this... especially for her hospital. i hate that place.

So i am confident we have finally kicked this J tube mess in the butt for now! hopefully she won't be in anymore pain!

Montage and J tube

 I updated quinn's Montage. take a look! *Tissues required*

Quinn Video

On the update side of things...

Quinn's J tube is still giving her problems. I called to try and make appointments, but we can't get in to see the surgeon for a consult until March 3rd. I just don't think this can wait that long. The tube is so painful for her, but also, the crap under the tube is growing, granulation tissue is just growing underneath the green making the tube very tight to her stomach. I'm sure there's something wrong with the inside too because just touching it is incredibly painful for her. We have her belly all taped up to keep it as secure as possible. that does help a little. It started bleeding a little as well. We just need to get this taken care of. It's nasty.

She had another episode of increased heart rate too. We were just sleeping together on my mom's bed when from out of no where, Q wakes me up and says, "mommy, i think my heart is beating really fast"... I put my hand on her chest and sure enough, it was pounding very fast and very hard. I am almost positive these are SVTs. But her cardio says that Q doesn't need to be seen again and that there's nothing wrong with her heart. I've been seriously debating on getting a second opinion. These episodes can be incredibly painful for her... Not to mention quite scary... for her and for me.

Anyway, that's the up and up. i hope everyone has a nice holiday weekend.

Please also, keep Maggie and Eithene in your Prayers! these are mito warriors. Maggie's family was just told taht she might not have long enough to live. She needs a miracle. Eithene has been in the hospital for about a whole year straight. She is having a hard time with continuous infections. 

Bad motility is bad

So, remember in my last post when I was talking about how Q was in the hospital to basically jumpstart her GI system again? Well, this is how dumb her hospital is... She had a fever and this green crap growing from around her site and I tried telling them that no matter how hard I tried, the green gunk wasn't coming off and had been there for almost two weeks at that time. Not only that, but she had a fever and was showing signs of bad motility and something was just off about her. after determining that the J tube was in the right spot they said that she probably just had bout of gut shut down and that now that she's tolerating her feeds again and that an infection is unlikely, we could go home. THANKFULLY! before all this went down, her pedi office had cultured the J tube site... duh because it looked so nasty and was so darn painful. Well, we got the results and she's growing pseudomonas, stapph and something else. LIKE REALLY!? WHY is her hospital so nonchelant about everything Quinn?! How come the children's hospital couldn't figure out that the J tube site needed to be cultured? So, we definitely could have been on antibiotics while we were there, especially considering the fact that all the bugs that grew on her tend to be antibiotic resistant.

AND... the green gunk that i can't get off is very typical of this infection and can't be removed with antibiotics or anything. It must be SURGICALLY removed. LOVELY!

So, I took her back to the pedi yesterday to check the site and the doc gave us a script for Cipro, an antibiotic and told me that i needed to get in touch with the surgeon to schedule removal of this stuff. He also said that it should NOT be so painful and is afraid there might be an abscess on the inside. It's just never easy, is it?

So that's what has been going down. Quinn's tube site is extremely painful, but we are making do. Eveytime she eats, her poor tummy hurts, even if it's just a cookie! Food is her enemy, yet her comfort and her best friend. Sometimes, i just wish she would not feel hunger and not like food. It's terrible to have to tell your child that she simply can't eat. And then I break down because she's so sad that I said no and just give her little tid bits here and there, I feel terrible when she doubles over in pain and says that she ate too much. Even though typically, she should NOT have eaten too much! Her stomach just is in the pits.

Here's another thing that is kinda terrible about Quinn. It's obvious when she is in pain and she comes up to me and tells me often enough that her tummy hurts her. she cries and she will tell the nurses, but when a doctor comes in, she claims it doesn't hurt her. I figured out why. It's because she knows that if she says her tummy hurts, a doctor is going to press right where it hurts just to see if they can feel anything abnormal or to see if they can localize the pain. yeah that happens way too often and she KNOWS it will happen. so when a doc asks her if she's in pain, even though she is, she will tell them no. Making me look like a liar haha! but I totally understand now. From now on, i'm going to protect my little girl and just let them know where her pain is, how bad it is and whne she complains because i'm her mom and that's what i need to do for her. She's had enough pain in her life then to be poked and prodded by a doctor to send her in tears, that's just not what she needs.

Despite the bugs growing in her system and the pain from eating and being fed, Quinn is still growing at a good rate. She also hasn't had any seizures since we started pushing meds through the J tube! That is just awesome.

We have an appointment to see a new neurologist next week. The old one has left hteo ffice and we are sad about that because she was just great! But i've heard some good things about the new neurologist and he treats another family I know who has mitochondrial myopathy. She says he is knowlegable about the disease so that's always a plus.

These are examples of Bloating from her J tube. So basically, this is bloating in her intestines. 

Below is a very minor example of Quinn's tummy pain. This is typical for at least 5 times out of the day.

Long Time No Post... Here's the Lo Down

It's been a while! almost two months! It's been a good two months and a bad two weeks.

So, December was kind of nice. It took a while trying to get in the swing of balancing Quinn's pain and feeds and her small intestines were still getting bloated. But we started running into problems with lots of pain. Her fingernails also started falling off! Yes, every single one of her fingernails were falling off. The pediatrician said that this was due to clubbing of her fingers and her nails weren't getting enough nutrients to keep her nails growing. This was due to a chronic lack of oxygen. This also coincided with the fact that we were unable to provide her oxygen, due to the insurance issues. Sadly, this piece of information didn't help us get her oxygen any faster, which is total bullshit! But, we did EVENTUALLY get approved, but only for 10 tanks a month and we STILL can't get approved for a pulse oximeter.  It's a little loopy, but i'm writing letters to the state about this and in the appeal process.

Quinn also had a birthday January 17th! she turned 5! It's amazing, after such a rough year and a very scary November... It's amazing to see her laughing and smiling and running around on her Birthday. We went to Chuckie Cheese. She had a lot of fun.

She also got her medical stroller! WoW! I LOVE IT!!! Things are so much easier to do! I can basically pack that thing with all our stuff. It holds a tank and has an IV pole... it's the greatest! Unfortunately, when she's it in, it makes it seem like I have a kid who can't walk. so we sometimes get weird looks when I take her out and let her run around, but people just don't understand, the thing needed to hold a tank and that's the best chair for holding an o2 tank.

now the ugly...

Quinn's stomach causes her chronic pain. It is always on her right side where her J tube is and in her small intestine. So basically, we swapped one evil for another. Instead of her stomach getting bloated and painful, we are now dealing iwth her intestines becoming bloated and painful. You can actually see her intestines bulging out when the pain is really bad. we have been given Ferral bags to help. she blows them up like a balloon and when her motility is very slow, the feeds actually reverse back up into her stomach. She also had some bloodwork taken for nutrition and we found out that she is low on Protein. She has also been having problems with hypoglycemia and so now we have to check her twice a day, if she is off her feeds for a period of time, her blood sugars drop dangerously low. Pretty much, Quinn's stomach is progressively getting worse to the point that we have been faced with the Central Line nightmare. Here's what happened this week...

Over the weekend, Q had a fever and a cough and some really bad stomach pain. Typically, because it wasn't THAT bad for her pain, but her J tube looked weird, it had some weird crusty green stuff that i couldn't get off with soaking and peroxide and she was just in a lot of pain. So I decided to take her to the pediatrician, mainly, i thought she just had some kind of infection and needed antibiotics. When the pedi couldn't find a source for her fever, she become worried because she couldn't hear any bowel sounds and so she sent us to our local ER to get some Xrays and evaluate for possible appendicitis. At the ER, she had Xrays, Ultra sound and a CT scan. The radiologist read that the CT scan indicated that her J tube was acutally OUT of the Bowels and IN the abdomnial wall! So, off to Loma Linda.

There, she had multiple tube checks, which was unclear as to whether or not her tube was in the right spot. They did small bowel follow throughs to check for blockage and couldn't find any, however they did say that her small intestine was very slow and many hours after she had contrast in her J and G, it was still there. So basically the Xrays showed that her motility was incredibly slow. Thankfully though, the tube was found to be in the right spot, eventually. She had her GI, her surgeon and her GI on her Team following her the whole time we were there. The surgeon said that unfortunately, surgically, he can't help her. The problem with quinn is mechanical... there's no surgery, not even an ACE that is going to help her contract her intestines to move food through. He told me that the only other option is supplemental TPN. She is getting twice the amount of protein she needs in her tube feeds and more than enough nutrition, however due to her slow motility, it's just not enough. Well, for me, because of her normal appearance, TPN is just not an option. She is growing on the J tube feeds, yes we have some issues, but she is mainataining a very healthy weight. I asked them to just slowly take hte feeds slow and try and work her back up to her 30ml/hr. We did that and she did fine. she had a few days of gut rest on D10 IV fluids and she did much better. It was kinda like we just jump-started her intestines again. I think they just needed a break. so we came home last night. Her motility is still very slow, but we are making it work for right now. She is now on some protein supplements and we are just going to go from there.

I really don't want Quinn to have a central line. AT ALL. I'd rather explore other options to try and get her intestines to work better. Although Q does not have a solid Mitochondrial diagnosis, quinn's GI doctor made it very clear to me that she presents herself as typical mito. Especially with her gut function and that he is going to treat her as a Mito child he really wants her on the mito cocktail to try and slow down the disease progression. I knew in my heart back in 2009 that Quinn wasn't a normal child, she had a rough start, but she was sooo healthy in 2009! We had no hospitalizations, just follow ups with the specialists every 6 months and every ounce of me wanted to believe that she really was outgrowing all of her issues. I was almost completely convinced that she was! Then 2010 hit us like a ton of bricks and it's been downhill from there.

We actually have an appointment to see Dr. B in CHLA on April 7th. I'm getting nervous. I want to put together a binder of her medical life for him. Pictures, healthy labs, sick labs, test results and etc... Well, this is going to take A LOT of work.

So all in all, Quinn's weight is back to normal, but we are seeing progression with the disease and it's painful. I really enjoy our pockets of health, but moments when the evidence is clear is very hearbreaking. the most difficult time with this hospital stay was the term mitochondrial disease being thrown around easily now, the ah.. that's why this is happening and that's why that has happened, and then the bleak future, particularly with her gut function. it can be quite hard to take in now that all the doctors that ever told me that she was going to outgrow her issues are less optimistic.

Lots of pictures! 

Christmas 2010! 

December 2010!

 

 December 2010! 

 Happy 5th Birthday, Quinn!

  

School January 2011!

 Quinn's Chair!