Hello all! Question about muscle bx

Posted: December 1st 2008

lindsayknops

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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.

Don't we always second guess ourselves! We had a thigh biopsy done but it was frozen and I'm kicking myself for not going the fresh route! Did they test the Electron Transport Chain? My understanding was this test is necessary to get a final DX. I hope you find someone who can answer your question! By the way, does anyone try to pronounce Ava with a short A? My DS is Asa and we get a short A alot. That's right---Assa ;) Kim
lindsayknops's picture

Hahaha...I went to school

Submitted by lindsayknops on Wed, 12/03/2008 - 7:18am.

Hahaha...I went to school with a guy named Asa and we had one (very old!) teacher who called him Assa! And yes, we get Eva or Ah-va all the time. Hello, it's only two letters, you'd think it'd be an EASY name! :) Ava's bx was frozen, on top being in the "wrong" spot, so I'm really, really second guessing. Dh says we're going to Atlanta regardless, but I really want to get someone else's take on it, too. I don't want to be "that crazy mom", but I really AM that crazy mom...I can't stop until I really know for sure what's going on with her. :( There's just too much going on to be explained by our one and only "real" diagnosis...reflux. Ha! That's just crazy! Her bx was basically unreadable mumbo jumbo (to me), but the geneticist went over it with a fine toothed comb and says that Ava DOES have some sort of mito dysfuntion, but neuro says that it's all WNL. Grrrr...they're both pinning our hopes on the endo appt. in Jan. Half went to Cleveland and half went to somewhere in NC. I think we'll just go straight to the source. :) Thanks for your reply, Kim!
__________________

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

Tina_EvesMum's picture

We have just had Eve's

Submitted by Tina_EvesMum on Thu, 12/04/2008 - 6:00pm.

We have just had Eve's Muscle and Skin Biopsy and Lumbar puncture and blood and uirine tests done this week. We have to sit and wait for the results now...the whole thing is driving me crazy. The need to know what we are dealing with the constant wondering if I am exagerating whether actually maybe the original CP doagnosis was it. However lots of people now see the deterioration in Eve's abilities and the MRI results deffintely showed something! So is it Mito or is it not? The Neuro was brilliant...deffinietly agrees somkethingis going on. But what if it all comes back normal and I am labeled that crazy Mum? Sorry didnt mean to trun this into a post about me! Was trying to empathise! Hugs hope you get the right guidance to do the right thing...even if that guidance is your gut feeling! Much love to you
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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!

stperron's picture

Tina, Teddy is almost nine

Submitted by stperron on Fri, 12/05/2008 - 10:12am.

Tina, Teddy is almost nine years old. We finally got the Mito dx 3 years ago. So for the first 5 years I felt like I was going crazy, and was sure some social service agenecy was going to come and take me away....a mom knows...trust your gut. Only a parent truely knows their child. Stephanie and Teddy Perron
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Stephanie Perron

Caringbridge.org/visit/teddyperron

lindsayknops's picture

Stephanie, I agree...moms DO

Submitted by lindsayknops on Fri, 12/05/2008 - 12:45pm.

Stephanie, I agree...moms DO know, and we've known all along that things with Ava just aren't right, and no one has been able to figure it out yet. That's why I was beyond frustrated when her bx was "abnormal", yet not enough...arrrghhh! Hugs to everyone...keep fighting the good fight!
__________________

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