Little Man's Biopsy

The first half of yesterday was an incredibly long day for my littlest man. But as always, he is such a trooper and makes me so proud to be his momma.

Let's get to what you probably want to know: What were his biopsy results? Does he have a mitochondrial disease? Where does it all go from here?

Biopsy Results:

FINAL DIAGNOSIS:
SKELETAL MUSCLE, RIGHT THIGH, BIOPSY:
A. Mild variation in fiber size and shape, with Type II fiber predominance
B. Few fibers with mild increase in subsarcolemmal oxidative activity on NADH-TR and Cytochrome C Oxidase
C. Rare megamitochondrion and mitochondrion with abnormal cristae pattern on electron microscopy
D. Few fibers with Z-Line streaming on electron microscopy
E. No evidence for a dystrophy
F. No Evidence for an inflammatory myopathy

Comment: A few fibers show mild increase in subsarcolemmal oxidative activty noted on NADH-TR and COX stains. There is a rare abnormally elongated mitochondrion and a mitochondrion with an abnormal cristae pattern seen on electron microscopy. These changes are suggestive of possible mitochondrial myopathy.

(1) SUPPLEMENTAL SURGICAL PATHOLOGY REPORT:
INTERPRETATION:
This patient shows variable regional reduced staining for Complexes I and III, vaiable focal reduced expression for Complex II and IV-IV, normal staining for Complexes IV-I and V of the Electron Trasport Chain, and normal staining for PDH-E1-ALPHA.

Correlation with Quantitative Respiratory Chain Enzyme Assay is recommended.

(2) SUPPLEMENTAL SURGICAL PATHOLOGY REPORT:
INTERPRETATION:
This patient shows markedly reduced expression of Dysferlin. ***

There is no evidence for Dystrophinopathy, Sarcoglycanopathy, or Merosinopathy. Alpha Dystroglycan, Lamin A/C, Emerin, Caveolin 3 and Calpain 3 are within normal limits.

*** geneticist said this could possibly be a marker for a dystrophy later in life

(3) SUPPLEMENTAL SURGICAL PATHOLOGY REPORT:
INTERPRETATION:
Citrate Synthase activity is increased, suggesting mitochondrial proliferation. This may be an adaptive response to mitochondrial dysfunction. There are no deficiencies of respiratory chain activities detected before or after correction for CD activity. Mitochondrial electron transport chain disorders may be caused by molecular defects in nuclear or mitochondrial genes. Determining the mtDNA copy number may be informative.

Still with me??

Okay, so all of that to say, his biopsy is highly suggestive of a mitochondrial disease. He falls somwhere below 75% of his tissue area being affected. The sample of tissue much have 75% or more of the area affected to be firmly diagnosed through the biopsy alone.

As of today, he has still yet to be formally diagnosed as having a mitochondrial disease. But his geneticist repeated a few times that "his biopsy was highly suggestive and add in his past high organic acid bloodwork studies and his clinical symptoms"... he has added a new (otc) vitamin to Little Man's daily regimen and he upped the dosage on two other medications --- he is now taking Leucovorin, Levocarnitine, Ubiquinol, fish oil and alpha lipoic acid (<-- the new one)... all 2x daily at various dosings. As the biopsy results suggested, he also mentioned doing bloodwork to look at the DNA of the mitochondria but here's the problem... a lot of times insurance companies don't want to pay for this test because it's VERY EXPENSIVE. From my past experience with BCBS (our insurance company), I'm betting they fall into that category. We are to continue night time feedings with Little Man. We give him 3 ounces of (30 cal/oz) EleCare at midnight. Little Man is my peanut - you many not think so by looking at pictures but he is weighing in at 22lbs and is 29.9" tall --- just barely under 20th% for both. His head has grown... again. It's now 51cm... I don't really have a % for it but at 51cm it's the 95th% for a 24m/o and 80th% for a 36m/o... suffice to say, it's larger than it should be. But with that said, no further action other than watching it will be taken. Little Man hasn't lost any skills and he just had a normal MRI in November. He has had SO MUCH radiation since birth that we are opting against a CT scan as well.

He has also recommended us starting PT with Little Man as well. He is very strong in his upper body but his lower body could use some help. While he doesn't think it is an absolute necessity, he thinks it could definitely help Little Man.

I told him about my concerns with Little Man falling while he crawls and this weird noise he makes while breathing. It's a deep noise - some have described it as it sounding like he is gasping, but he isn't gasping. As for the falling, I can find no better way to describe it than everything goes out from under him and he falls face first into the ground. We met with the head of neurology yesterday and he ordered an EEG. It took about 30 minutes to the leads in place and 20 minutes for the EEG - it was normal (thankfully - we don't need another issue!).

We follow-up with our geneticist in 3 months.

Our geneticist said at times mitochondrial disease is like a virus in the world of genetics... meaning, in certain instances you have to diagnose on clinical symptoms alone. We knew going into the biopsy that we could possibly get a negative or inconclusive result back and he could still be diagnosed with a mitochondrial disease. We also knew, from our first meeting, that if Little Man had one, it was a mild/atypical form of one.

So for now, not much has changed. I feel like we are still in limbo. I am waiting to hear back from his geneticist as to whether or not he is being formally diagnosed. A part of me says "yes, he has this" since his biopsy was highly suggestive and seeing as how he is being treated for a mitochondrial disease.

Also - Big Man has a GI follow-up on Friday. He is still complaining of tummy pain. All of his stool studies and bloodwork results have come back either negative or normal. He has been prescribed Levsin as needed for stomach pain. I have a feeling an endoscopy is in his future. I will update when I know more :)