Posted By Posting
Nov 04, 2008
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
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Quinn's Mito/Metabolic Appt!!!!!!!
Ummm... Where do I begin??? I'll skip past how very awesome and friendly the staff was, along with very timely!!!! And say...

The appointment was awesome! I can't expect him to know everything right off the bat, right? I put together a timeline from her birth history to now... hospitalizations, specialty appointments, therapies, test results etc... the doc said it was excellent. I also put a bunch of pictures of her poop with it and handed it to him.

He spent two hours with us chit chatting about her health and a few of the things that he thought were odd in her labworks, but not so out of whack that he would be overly concerned. Upon getting all her history, he did say that there is definitely something going on. His challenge would be to put all her symptoms into one underlying diagnosis. Which is just what I need!!!!

He did see a few things in her past blood work that points to MITO, such as her high lactic acid levels but said that given how sick she was as a newborn, she should have gotten worse by now. In some ways, I think she has gotten worse, in others, she has gotten better. But how can you say that she was worse or better as a newborn? The only thing I can see is that she is growing into a toddler. Otherwise the symptoms persist and we have added tons of new diagnoses and new medications to suppress all her symptoms. So on that, I'm not sure if I am in total agreement.

One thing that we KNOW of for SURE is that there IS something wrong! He said that she is far from typical and a complicated case ( how many times have we heard that one...) so he doesn't know how he can diagnose her. He is not ruling mito out.

He mentioned something (don't quote me because I might have been on the wrong page, this is where he lost me sort of) But he did mention something about a problem with protein and carbohydrates or something like that. He said that it was really rare and unlikely though.

Otherwise he didn't appear to be too optimistic that we would find anything because of how untypical she is. That was kind of a kick in the gut, but what else could I expect? The good thing is that he is recognizing the issues here and will help us as much as he can to find a diagnosis for her.

Oh, get this!!! Some of you may know that Quinn has an enzyme deficiency called CSID, where she cannot digest sugar or starch. He said that he doesn't think she has this. Mostly because she tolerates her formula (pediasure) just fine. He took a look at her poop pics and said that it doesn't look like normal CSID poop and that if she does have the CSID, she has something else going on along with it when it comes to her GI system. FINALLY!!!! Someone who understands my issue with that!!!! I KNEW it wasn't JUST the CSID causing her diarrhea and weird poops. I'm pretty careful with what I feed her and I just can't find a common cause for this strangeness. He was also very concerned with how often she has to be hospitalized just for her severe dehydration from these "recurrent bouts of gastroenteritis".

So there you have it!!!

-Sarah

Nov 04, 2008
jedd'smommy
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
YAY YAY YAY YAY GREAT GREAT news!!!!! I certainly hope he can get you some answers or at least put together stuff and point you to a colleauge who can help.

Doesn't it feel great to see a Dr who seems to care AND understand!!!!! WHOOHOO!!!!!!

Nov 04, 2008
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.
YAYAYYAAYAYAY!!! i am sooo glad you went there and got such a great dr.! You know how i feel about the "JUST" CSID thing. I know in my heart emily does not just have CSID. Honestly- IMO i don't think any kid has "JUST" CSID. btw what do CSID poops look like? e-mail me we can talk off board :)
Nov 05, 2008
kubicki5
Julie - I have three children. My youngest Katie is my refluxer. My first Ben was very colicy and is ADHD. My middle Jakob is pretty easy going. Katie had it bad as a baby no sleep for two years. She was on Nutramagin, Prevacid and Zantac. Thought we were through it but after age three it came back big time. After her scope she was put on Prevacid 45mg a day and mylanta as needed. Scope was in Sept. Showed damage in stomach and espophogus. It took about 7 months of medication and Reflux diet for her to start feeling better.
Yay for a great appt.
Nov 05, 2008
jjaneiro
I hope you are on the right path with Quinn. My daughter was also diagnosed with CSID and when we went to a CSID specialist for help he said it was secondary to something else. What that is, we don't know yet. I also would like to know what he considers CSID poop looks like. - Jeannette
Nov 05, 2008
molson1525
Mary & Nicholas 7-17-03 (non-refluxer)allergies, asthma on Singulair and Flovent & Aidan 1-28-07(my refluxer)Nissen Fundoplication on June 20, 2008, FTT, MSPI, DGE, ear tubes, allergies and severe GERD now currently taking just Prevacid and drinking Elecare Vanilla 1+.
Sarah, I am so happy for you guys! I hope this doctor follows through and helps you guys figure out the mystery or points you in the direction of someone who does. Keep following your Mommy instinct because you are doing an awesome job. I am so glad Quinn is doing as well as she is given all that still seems to be going on. I am blown away by the binder you were able to make with poop pictures and all. You go MAMA. Can you come over and organize my stuff too? Keep us posted on what they find out? Is he going to do some more testing now or just kind of watch and see?
Nov 05, 2008
ethan's mom
Meridith
Mom to Ethan, born 4/23/08. Diagnosed with Reflux at about 1 month, started medicating with Zantac, which wasn't helpful for us. At about 2.5 months, we started on Prevacid, twice a day, and that is working much better.
Ethan is breastfed and has a few solids that he is enjoying very much.
Wow, GREAT visit! I hope that he is able to help figure out the total picture of Quinn's health.
Nov 05, 2008
nicholasmom
Renee, mother to Nicholas, born 4/18/08 with silent reflux, moderate laryngomalacia, Sandifer's Syndrome& suspected MSPI. On Neocate, Simply Thick and Prevacid. Also mother to Nathan, born 12/06/06, who had mild reflux the first few months.
So glad someone is finally paying attention!!! I hope this doc can really help you and Quinn.
Nov 05, 2008
mollybeth
Cooper was born 12/19/07. Birth weight: 7lbs10oz. Weight as of 2/11: 8lbs9oz. 6/23: 14lbs12oz! Struggling again 12mo: 18lbs. Breast Fed exclusively, on strict elimination diet until Dec 08. MSPI as well as other food intolerances Diagnosed w/ GER at 5 days following barium swallow. Choking with apnea spells. Ftt. dx w/ Laryngomalacia following brochoscopy 1/29. Aspiration. apnea monitor until 5mo. pH probe 1/29 showed severe reflux. Sandifers Syndrome. lbrady and tackycardia. echo and EKG 2/18: Came back normal! Swallow study 2/29: some NG reflux. Unexplained seizure 4/1. Negative CF sweat test 4/4! EGD 11/19: reflux damage in esophagus. pH probe 11/19, reflux improved. Safe foods: pears, apples, peas, rice, small amounts of chicken, potatoes, and carrots.
Currently drinking Elecare vanilla 30cal/oz and breastmilk.
Meds: Nexium 10mg 2x daily. Carafate as needed, miralaxx as needed, probiotics daily
I am so glad you had a good appt. I am glad your dr listened to those mommy instincts you have. We are praying you gt everything figured out w/ Quinn. You are such a good mom!
Nov 06, 2008
mom2halleyann
Donnessa, mom to Halley born 3/10/07
Reflux (mostly) resolved at 14 months
and Addison born 8/17/09. Currently exclusively bf and on 7.5mg Prevacid
It's about time that your persistence started paying off!!! I really think he's going to get to the bottom of it, Sarah. I admire all you've done for Q and someday she will too (if she doesn't already).
Check with your
doctor first!