Posted By Posting
Dec 27, 2008
engin117
My name is being used fraudently to ill represent me. Please be cautious of any information you receive with my name. including engi.nowaira.net, engi@nowaira.net, Engi@nowaira.us, anything from anyone claiming to be Engi Nowaira online. Otherwise, I will be representing myself in person so that everyone will have opportunity to identify me in person.
My previous drivers license was also stolen. The new one has extra security features on it.
OT-What do you think?-Mitochondrial disorder-biopsy
We were referred to a neuro-geneticist for all of Meggy's issues. I was happy about this, but not happy with the rush of procedures and wanting to set up procedures before meeting with the doctor. When they said biopsy, it didn't seem that much worse than some of the other things she has had done.

Then, we received an email saying we needed surgical clearance from the cardiologist. We emailed back to ask why, we haven't had to do this before and got the scoop on things.

This is not an ordinary biopsy where they just pinch a piece of skin off, they cut her thigh downward 1 and 1/2 inch and then take and 1" long piece of muscle out. There is the risk of cutting a nerve among other things like the permanent scar, ect.

Am I silly to be really nervous about this? What would you think or say or do? We have not met the doctor yet. He wants us to meet him on the 13 and then go have a spinal tap and biopsy with another new doctor in an outpatient surgical center-not even a hospital on the 14.

My hubby and I want to try and schedule the procedure a ways out from the consultation. We r not sure if they will allow it, but this is a little more serious than an MRI or endoscopy.

I do think she needs the mito work-up, but wonder if just starting a vitamin regimen for it would be a better way to go and see if it would help. I am just a mother trying to do best for my little one.

I am looking for opinions, encouragement, and support I know all of you are so great about. Thanks, Engi

Dec 27, 2008
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!
I'm clueless about this stuff but just as a mom, I wouldn't have anything like that done without meeting the doc first and talking with him about it. It seems funny to me that they would expect you to do those things to your child without getting some perspective from the dr first.
Dec 27, 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
Have you posted this in the Mito Forum at P2P??? There are quite literally TONS of families there with kiddos with Mito. They could most certainly answer this quickly for you. MANY of them have had the muscle biopsy done.
Dec 27, 2008
engin117
My name is being used fraudently to ill represent me. Please be cautious of any information you receive with my name. including engi.nowaira.net, engi@nowaira.net, Engi@nowaira.us, anything from anyone claiming to be Engi Nowaira online. Otherwise, I will be representing myself in person so that everyone will have opportunity to identify me in person.
My previous drivers license was also stolen. The new one has extra security features on it.
I posted on P2P as well, but I feel very close to all of you and just wanted to see from your perspective as well. Both are amazing forums with amazing moms.

Thanks.

Dec 27, 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.
i don't know, and this may just be my overly trusting/naive nature, but if a specialist dr. suggested a biopsy of this nature.... there is USUALLY a good reason for it. that being said- it is not my kid going under for it though. if it were i would try to do everything else FIRST before i conceded to surgery. I did that with all of emily's procedures. I tried meds and diets and vitamins, ALL before i did any invasive procedures.

my heart aches that you have to make this decision but all i can say is talk talk talk, ask ask ask. get all the facts research and everything else you can think of done so it can put your mind at ease that you are making the best decision. my prayers are with you and meggy!
Dec 27, 2008
b-girl
Mom to Jasmine aka: Jazz 01/24/2007
Dx with silent reflux at 8 months
FPIES, DGE, MSPI. Recently diagnosed with EC (Eosin. colitis and now Primary immune deficiency disease.
Also mom to Nathan. born Jan.20th, 2009, MPI . so far dx with reflux and has an extremely sensitibe GI system. Also dx with primary immune deficiency disease.
I'm with Kat on this one.... I think the procedure is a good way to see once and for all if that is why she is suffering, but I would definately meet with the Dr. and see if your comfortable with them. I'm sure they are used to lots of parents wanting a consultation first.

Sometimes scheduling two procedures back to back is a good way to get them out of the way and done with. She may still be groggy from biopsy number 1 if you went the next day too. Again, you need to meet these Dr. and see how you feel about them.

This is a tough one Engi, but you have to go with your gut and ask yourself if these tests can answer some questions. My thoughts are with you....

Dec 27, 2008
mommyto2
BRANDON-Zantac and Bethanacol; Neocate formula, 2 sets of ear tubes, Adnoids removed, Vasomotor Rhinits, Asthma. Currently on: Xyzal, Omnaris, Flovent and Xopenex,
AUBREY-Zegerid 2x a day, Soy Milk, Tubes put in and adnoids removed (11-7), Hypotonia, ECI therapy for low muscle tone throughout trunk and hips, oral motor issues and sensory integration issues, delayed speech, Teething, probiotics
PICTURE: Aubrey in her cute cat outfit. If you look you can see how her right foot turns in. She walks that way as well. It is not as exaggerated in the morning's but gets worse in the evenings. This was after her nap.
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I agree with Kat and b-girl, but wanted to add that I would not change any meds or add anything until you have decided what you are going to do. If you start the vitamin cocktail you may interfere with the results and I know you wouldn't want to do that. HUGS
Dec 28, 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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I agree with Kat too. We have done EVERYTHING I CAN COME UP WITH to try and help Quinn out before going through with any kind of procedures. We even canceled a surgery the day before it was scheduled because we felt we needed a second opinion. Good thing we did though because the guy said that taking a child's tonsils and adenoids out just to try to "help" a hypotonic child breathe would be pointless unless her tonsils and adenoids were actually an issue. In which they are not. they are tiny.

That being said, i'm sort of jealous that so many of you have been able to find proactive doctors. I can't tell if nobody will do extensive testing on Quinn because they think she may be too fragile, or if I'm just not finding proactive doctors. All her doctors play the "just wait and see game" or tell me "she will grow out of it." LOL!!! the only one on our side is her neurologist and she does what she can.

Question... did she have some abnormal blood work that pointed to a mitochondrial disorder? they have MTDNA testing (which Quinn has gone through as well). for mito too... which is just a bunch of blood viles. if she hasn't had that done, i would at least do that before resorting to the biopsy. With all the signs and symptoms that point to MITO for Quinn, she has never had a muscle biopsy or a spinal tap. Not even a bronchoscopy. Or a colonoscopy.... not saying that I want this done to her at all, but she has had so many issues that I think would warrent further investigation such as those.

ok, enough about Quinn... sorry got a little too chatty. I think yo uare doing the right thing by worrying about that stuff. you are mommy and i would want to take every precaution i could before putting Quinn through such invasive procedures too.

-Sarah

Dec 28, 2008
mely
Amalia 11/1/06, Silent reflux- Weaned off prevacid in the summer- back on again 15mg. Back on lactaid. Atalia- 6/17/08 DX with GERD and colic at 9 days of age. Appears to have mild MSPI. Upper GI. On Prevacid 22.5mg. Successful transition to whole milk! Eats everything!
Pic. Amalia and Atalia having fun at home.
Praying for your wisdom for you and the doctors. I would try to see them as soon as possible and get all your questions answered- and see of other less invasive testing can be done first, or if they think the biopsy has to be done no matter what... then why? Etc.... God Bless
Dec 28, 2008
mom2adriane&morgan
Adriane Reese 05/16/07; seemingly healthy when born; diagnosed with MSPI, severe Reflux, Apnea, Ashtma, Epilepsy, and severe food allergies(rice, corn, milk, soy, eggs, oats, wheat, beef, chicken, squash, pumpkin, avocado, etc.);On apnea monitor, seems to be tolerating RCF w/carbohydrate mixed in; on Zyrtec, Xopenex, Prevacid
Looks like I am a little late but I agree with the pp. I know that you will do what you think is best and you are great mom! I hope that whatever decision you make that Meggy gets better.
Jan 04, 2009
momtomaia2005
I think it needs to be done. One of my good friends has active mito that did not manifest until she was in her 20's. Her pre-teen DD is starting to show possible mito symptoms and my friend's mito Dr. won't even do the biopsy on her yet. If the Dr. is recommending mito testing then IMHO there is probably a good reason for it.
Check with your
doctor first!