Posted By Posting
Sep 23, 2009
baby quinn's mommy
Mom to a 3 year old baby girl with severe reflux: g-tube, nissen fundoplication. dx: RAD, failure to thrive, DGE, epilepsy, sleep apnea, paraesohphogeal hernia, high lactic acid there's more "unknown disease"... Hospitalized 12 times, PT graduate! ST graduate! OT graduate! Current Meds: singulair, zopeonex, pulmicort, reglan, Keppra, Trileptal, vitamin B6, Veramyst. Current weight: 34 lb. Current height: 39". g-tube dependent, oxygen 1-2LpM all day and night PIC: Ms. Quinn
Photobucket
About Quinn (yes, it's me!!!)
I suppose for you old friends, i can write a bit of an update, for you new ones reading, you may scroll down to the reason i am here today in the next paragraph.

Quinn has been doing GREAT! i mean, we just haven't needed to be hospitalized for anything. so that is excellent news! we did however have to go to the ER and stuff and if we didnt' already have a hospital here at home, she would have surely been hospitalized a few times. so that's really good news. She keeps having issues with her oxygen with no known reason for why she is having problems keeping her levels up sometimes. For instance, the past 3 months, we have been eitehr in the ER or DR office a few times due to increased effort breathing and very low saturations (in the low 80s) with no known explanation for it. she has xrays, they are clear, her airways are open, no infections. The good news is, this stuff is on the RECORD!!! whoot! another thing is, quinn is gaining consistently, regularly, however... despite how much she eats (which is a lot) she STILL requires nightly tube feedings to keep her gaining. without it, she looses and gets very sick. and so still, everything is the same. She takes about 7 different daily medications (including nebulizer treatments) and she is on oxygen every night and during the day as needed, along with g-tubefeedings. My child is turning 4 in january! the treatment she is on, it works! but what is it? why does she need all this stuff to keep her functioning at a normal level? that is still a question we are trying to answer. Quinn goes to preschool now! they monitor her sats all day and have oxygen on hand when it's needed. Their protocol is to call 911 everytime quinn has a siezure. She had one today. but 911 wasn't called because they didn't know what was going on with her. Sometimes, quinn's seizures aren't typical (as in, she doesn't always go into convulsions) She can have multiple seizures a day, but to the untrained eye (or i should say inexperienced eye too) you just don't kno what exactly it is... so I walk into class to pick her upand the teacher said, something weird happened to quinn today. so i was like " go on" and she said that quinn came up to her at the playground and told her that she idnd't feel well (immediately, i knew what it was. this is common after she has a seizure) She said she brought her inside and checked her o2, and it was (surprisingly to me) good. but she said her face was very blotchy, quinn looked exausted and was saying she idnd't feel well. So i told her what kind of seizure that was and that she will normally stop what she is doing, kinda drop eveyrthing, have a blank stare and then she looses her trace of thought and sometimes says she doesn't feel well. This is called the post epileptical stage. Quinn doesn't even remember it. The teacher said that is exactly what happened and that she should have called 911. i told her that it's fine. it is just a part of her life. but she said that the next time she sees it happen, she does have to call 911 because it is written protocol for her. so i really have a feeling i'm gonna be getting phone calls that quinn is on he rway to ER more often. ugh! ok, on to why i decided to update a bit:

Quinn had blood drawn (again) for mitochondrial Myopathy. On the outside, Quinn looks very well. This is with everything added (her tube, o2, meds etc...) So ti's really really hard for me to walk into a specialty clinic and say "something is wrong with my daughter" So this guy has been following her for almost a year now. It's a metabolic doctor. Anyway. she has labs drawn about every six months for metabolic and her lactic acid has been consistently getting higher and higher. At nine months, it was 2.0, about 9 or 10 months ago, it was 2.8, and when it was drawn in may it was 3.2. the doctor said taht he coudlnt' really see anything specific on her labs pointing ot anything metabolic that is really going on with her, but he did say that the lactic acid is something that needs to be monitored. so he wants me to come back in and have more labs drawn in a couple months and then make another appointment for follow up in 4 months. I'm honestly very frustrated. So we have all these "problems" that are either inconsistent or ongoing that have no real explanation as to the cause of them. I'm screaming "mitochondrial myopathy" but no doctor really seems to think this is the case since she just looks so damn healthy and is responding to the treatment she is provided at the moment. I really don't want to hear more "let's wait and see" because that's all we have been doing. i have no real complaints with her health at this very moment, but I DO have problems with something in her labs being consistently abnormal and yet there is no real plan to follow up with or explain what this could be. I'm pretty sure there's gotta be SOMETHING that ties all of quinn's issue into one big diagnosis. but it just seems that none of these doctors are willing to look at the big huge picture here. everyone is just scratching their heads and saying "well, i can't find a diagnosis, but the problems she exhibits are obviously controlled with the treatment so let's just see how she does. maybe she can be weaned one day" What if she doesn't need all tehse meds? what if there is something that ties it all together and it's a simple answer and we have been pumping her body with controller treatments when we really didn't have to? So, i'm still in the same boat. i think she has MITO. i really really do. but she just isn't "sick enough". So we are still gonna tread this water until someone is willing to pull us out. good thing is that i havea wonderful support system (my family) who also sees what i see. And the teachers who work with quinn are starting to see waht i see as well and that's always good to have that.

Good news for me! i passed my EMT national registry test so now i'm a certified EMT!!!

i'm sorry this post was so long~ it's been a while since i updated. any insight would be delightful. I hope everyone is doing great! -Sarah

Sep 23, 2009
jeddsmommy
Jessica, Mommy to Jedd, severe reflux, severe food and oral aversions, Finally G tube free!!! VSD repair 4-24-07 (open heart surgery), hypospadias, repaired 3 times and Ear tubes Visit Jedd at his CB site: www.caringbridge.org/visit/jedd
Hi Sarah!!!! *waves*

I don't know alot about Mito but from the other board, I can tell there is a wide difference in the kids who do have Mito. So, it could be, Quinn's is not as severe as some other childrens.

OH, and congrats on the EMT certification!!! WTG!!!!

Sep 23, 2009
emibug
Kathryn, Pager Volunteer and mommy to Emily Mia 02/04/07. 3 years old with GERD. 30mg Prevacid and Pepcid AC. Mylanta needed for flares. Failed prilosec med switch. Tried and failed many med weans but GERD and pain are well controlled. Functional constipation. Reoccurring SBBO. Suspected IBD or autoimmune disease. Resolved issues: MSPI, CSID (acquired), Stage 2 kidney reflux, Chronic diarrhea.
Audrey Meadow 06/20/08. born 34/35 weeks. Still b/f and eats everything! ftt and chronic constipation.
oh my gosh, it is so good to hear from you!! i actually was thinking about you today and was thinking about calling you cause i hadn't heard from you in forever lol

i'm glad that quinn is doing so well even if she does have a lot of accessories. i am glad you found a good preschool for her and hope you don't have too many ER trips more often. i hope that this metabolic dr can provide some more answers. i know exactly how it is to have a good looking sick kid. it's frustrating but i really hope you can get through it and on to a helpful diagnosis.

and CONGRATS on passing your EMT test!! I am soooo proud of you!
Sep 23, 2009
slimfast13
This is our dd, Alessandra. Dx with GER 10/07. Ran the gamut with meds and now done with them (crossed fingers). Using magnesium, probiotics and prebiotic supplements. With the exception of teething and general sassy attitude, all is well now. They really CAN grow out of it!
Wow...great to hear from you and that Q is doing so well, even with all her problems. CONGRATS on the EMT stuff - it's not easy to remember to pack the sucking wound while you're triaging and doing CPR (can you tell I've been there?) One more amazing mama doing it all and coming out on top.
Sep 24, 2009
blueleopard
Pictured: G'mom w/3 kids. I'm mom to 1 angel Melissa (dec'd 11/92 - hypoplastic left-heart syn.)
2 healthy daughters (knock wood) Cory (16), Kim (11) & Eric (4) diagnosed with e.e. (scoped 8/08), GERD & severe food/seasonal allergies, asthma. Cried non-stop first 17 mths. of life Found out he is allergic to cow's milk, soy, eggs, and peanuts. Takes Prevacid, Neocate One Plus & Flovent.
Hi! Thanks for updating. I always remember Quinn & wonder how she's doing. Eric will be 4 early March - it's amazing how fast it goes. Congrats on the EMT cert. I could never do that, as I'm way too nervous, BUT so thankful there are people who can handle it. I don't have any knowledge of seizures or Mito disorders (becoming an unwilling expert on EE though!), but wondered if you tried giving Quinn her asthma meds through an inhaler with a spacer? I was on the nebulizer with Eric until 3 weeks ago but just switched. He is used to it already & it is so much quicker/easier/portable. His spacer is cute too, has a bear using a spacer on it. Just a thought. Take Care, El
Sep 24, 2009
jessicalynn
mom to 4 kids with probable
Mitochondrial Disease
http://ourbeautifulchaoticlife
.blogspot.com/
Dealing with Fundo, J tube feedings,Severe Dysmotility,Aspiration,Asthma,
FTT,CVS,Dysautonomia,Resp.Distress
Connective Tissue Disorder,
GERD,EGID,
Visceral Hyperalgesia, and more
Many meds
I am glad she is doing so well..I would be suspicious of mito too, some kids aren't as affected as others, for instance all four of my children are probable mito, but Brent and Lauren are much more affected than the other two, Trey is almost as bad though as he keeps catching up. It all depends on the degree of mitochondria that are affected."Looking great"does not mean she can't have mito. Anytime there are 3 or more body systems affected,mito is a possibility, and I would say Quinn definitely has that going on.Hugs!
Sep 24, 2009
maggiemom
Maggie is now 3 years old and reflux free (knock on wood). I still check in some to see how everybody is doing :) Hugs to all!
Hey Sarah! I'm glad to hear she's doing well...I know not as well as we would like but hey, no hospitalizations is great :)

I know nothing about mito stuff but I googled it and my oldest dd fits some of it. We're having an EEG done for her next Friday. She doesn't have any serious issues like Q but there's a lot of little things that just don't add up.

I know how it feels to just wonder "what's causing all this?" It seems like when they have so much going on, there has to be a "big reason". I hope you find it!!

Sep 24, 2009
lorenzomama
Lorenzo b.4/25/07 1 week in NICU w/ aspirate pneumonia from a reflux episode; diagnosed GERD at 9weeks; Used Zantac for 5months. Currently using Chinese Medicine and Craniosacral Therapy. GERD, Obstructive Sleep Apnea, Sensory Processing Disorder. Ask me about breastfeeding a refluxer! Pic: day 5 in the NICU.
Hey! Great, as always, to hear from you! Congrats on the EMT certification! Are you planning on going on to get Paramedic Certification?

I'm glad to hear that Quinn is doing well in so many ways (and I find it incredible that she is coming up on 4 :o), but sorry to hear that there hasn't been much movement toward finding the source of her challenges. It may be a dead-end, or something you've already investigated, but if you haven't already you might want to just take a look at some of the current research on nitrates -- especially as they have leached into water systems. There has been some research connecting childhood desaturations and "blue baby syndrome" to excess nitrates. If I can find the resource I read recently on the subject, I'll send it to you. Anyway, like I said, probably not related,but has been on my mind...

Sep 26, 2009
jenrackley
PAGER Volunteer Services Coordinator
Nutritionist
Melina 7/24/02 now reflux free!!
TWINS:
Ella 5/3/05 GERD, asthma, hypotonia, food intolerances, esophagitis, IBS //
Ava 5/3/05 asthma, food allergies
Pic: My girls! They are getting so big!
Hey girly, it is good to hear from you! We have missed you. I am glad that Quinn is doing so well but I kwym.. I would want to know what is causing her to require all of these medications and things to be so healthy. I mean, obviously if you weren't doing all of those things she would be really sick. You would think they would take that into consideration and do a mito work up. I am like Melissa, I don't know a ton about it but did just look it up recently. It does sound like your instincts are right and some of the variants are severe and some aren't. Quinn has a ton of the symptoms though. Have you flat told them you want the work up done, period? Will they do it if you ask? Do you need to see a geneticist for it? Humn... I am sorry that you are not getting all of the answers you want but am glad that she is at least responding to the therapies and meds. Congrats on all your hard work in school too!!! ((HUGS)) to you and don't be a stranger. We want to know what you find out too please. TTYL!!! ~Jen
Sep 26, 2009
noor117
Strong, Beautiful, daughter who is thriving beyond imagination and a healthy, happy 3 year old.
Sarah,

I have literally just gotten my confirmed diagnosis of mitochondrial disorder complex 1 and 3. I am 29 and it took having a sick daughter for someone to listen to me. They are still checking into 5. Meggy is still probable at this point because her dad won't let her have the confirmation test. I said all of that to say I think u are on the right track. Please don't give up.

I don't remember where you live, but we have an amazing genetics doc. here in Atlanta that I really admire. When no one else would listen, she did. She took the time to go through all my records (hundreds and hundreds of pages) and she got me on the right track.

I know it would be a major disruption in life, but traveling for medical care can be a huge blessing if local isn't panning out. It seems docs. at same hospitals are trained to think alike. They won't dispute another docs. findings or suggestions.

If you have more questions, feel free to email me. I can give you the genetic docs. information. Engi-click me

I am sorry that you have been put through all that you have. Let me know what state you are in, and I will get as many resources for you as I can if you need them. Many hugs and may you find the right answers.

Mito. is no easy thing to deal with, but knowing if you have it gives you all the right tools in slowing down the progression. I have melanoma, and other things that may have been prevented had I known I have mito.

I had a major surgery in March and was given anesthesia that is contraindicated in mito. My BP went up so high, my blood sugar spiked, and so many other things went wrong that could have been prevented with the right prevention.

Check with your
doctor first!