Hello all! Question about muscle bx
| Posted: December 1st 2008 | |
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lindsayknops |
Print Hi! My 3 1/2 yo daughter, Ava, had a muscle/skin bx done this summer while she was under for a second fundo and repair of a giant paraesophageal hernia. The surgeon came out and announced that she had "saved us an incision" and taken the bx (frozen) from Ava's abdomen, rather than the thigh. At the time, we thought this was a great idea, but now reading more and more and see results that have come back abnormal but not "abnormal enough", my dh and I are really questioning the validity of the bx. The neuro believes Ava still has some sort of mito/metabolic disorder, as does the geneticist we saw in early October, but they now are pinning our hopes on an appt with a ped endocrinologist who runs the metabolic clinic at a hospital in Tampa. Needless to say, we are frustrated and still undx'd. Neuro decided to start Ava on the cocktail anyway, and we've seen a dramatic increase in energy and endurance, thanks to 300 mg Carnitor and 100 mg CoQ10. Even though many are on much higher doses, this has really been a huge benefit for Ava. Because I've yet to encounter anyone else with a bx NOT taken from the thigh, I am really contemplating seeing Dr. S in Atlanta for a fresh bx, just to put our minds at ease. It's either that, or accept that Ava simply has "Ava Syndrome", which we're not ready to do. I can't give up on finding a REAL reason for her multiple issues, and I just want to know what I'm up against so I know the best plan of attack to make things the best they can possibly be. As a little intro, here are some Ava facts. :) 5/4/05 Severe GERD from birth...started vomiting bile at 15 hrs old and never stopped (9 day NICU stay) Dx'd with "reflux" and sent home, only to puke and puke and puke...FTT dx at 11 mos after a very nasty bout of rotavirus. Nissen fundo x 2 (9/06 and 6/08), G tube 10/06, GJ tube 8/07. Now on continuous J feeds (meds too), G port used only for vent/drainage. All milestones were delayed, both physical and social-emotional. We really noticed a lack of eye contact/dislike for touch cuddling at about 6 mos. I breast fed her literally at arm's length. Hypotonia, motor planning issues, global delays (gross and fine motor, receptive and expressive language, and adaptive daily living skills currently most prominent). Very unsteady on her feet, joints are lax, very floppy (almost Muppet-like when running/walking). Wears orthotic insoles. Random, short-lived high fevers. Heat intolerance, extreme fatigue. Autistic tendencies yet is almost overly social...I believe whatever she has causes these tendencies, as she is obviously "off" in some way. OCD/bipolar tendencies (prominent family history). Probable auditory processing disorder, but waiting to see how she progresses in school. Prominent Virchow-Robin space. IQ tested at 119. :) !!! OT, PT, speech, hippotherapy. In a VE classroom, ESE preschool at a local elementary school...wonderful teachers and aides!!!
Wow, sorry that turned into a novel! Just wondering what thoughts anyone has on having the bx repeated...it eats me alive to not know what's going on with our sweet girl. :( __________________
Lindsay, mommy to Ava Bella, 5/4/05 Sarasota, Florida Recently diagnosed with Complex III...more testing is pending from Dr. S in ATL Some of Ava's issues include: severe GERD and GI dysmotility, former FTT, developmental delays and some Autistic characteristics, Sensory Integration Disorder, heat intolerance and temperature regulation issues, muscle weakness and fatigue, abnormal gait, hypotonia...and so on and so forth |




Don't we always second guess
Submitted by momabear-4 on Wed, 12/03/2008 - 12:15am.
Hahaha...I went to school
Submitted by lindsayknops on Wed, 12/03/2008 - 7:18am.
Lindsay, mommy to Ava Bella, 5/4/05
Sarasota, Florida
Recently diagnosed with Complex III...more testing is pending from Dr. S in ATL
Some of Ava's issues include: severe GERD and GI dysmotility, former FTT, developmental delays and some Autistic characteristics, Sensory Integration Disorder, heat intolerance and temperature regulation issues, muscle weakness and fatigue, abnormal gait, hypotonia...and so on and so forth
We have just had Eve's
Submitted by Tina_EvesMum on Thu, 12/04/2008 - 6:00pm.
Tina Mum of 5 children Eve has just been given a suspected diagnosis of Mitochondrial Cytopathy.
I do not know what the future holds but I am glad I know who holds the future!
Tina, Teddy is almost nine
Submitted by stperron on Fri, 12/05/2008 - 10:12am.
Stephanie Perron
Caringbridge.org/visit/teddyperron
Stephanie, I agree...moms DO
Submitted by lindsayknops on Fri, 12/05/2008 - 12:45pm.
Lindsay, mommy to Ava Bella, 5/4/05
Sarasota, Florida
Recently diagnosed with Complex III...more testing is pending from Dr. S in ATL
Some of Ava's issues include: severe GERD and GI dysmotility, former FTT, developmental delays and some Autistic characteristics, Sensory Integration Disorder, heat intolerance and temperature regulation issues, muscle weakness and fatigue, abnormal gait, hypotonia...and so on and so forth