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The Long Awaited Update

March 24, 2012

We saw the mitochondrial neurologist today. I suppose there’s not much to tell, but there is still so much to tell. I’m trying my best to keep folks who are interested updated, but hesitate to talk too much about this in front of my older kids, as they have a tendency to overhear and overanalyze every bit of information- particularly when it has to do with their baby sister.

The prolonged EEG came back as showing no abnormal seizure activity. This, of course, does not rule out seizures, but makes whatever is going look a whole lot less intimidating. If the EEG had come back with loads of abnormal activity it would have heavily indicated a mitochondrial disorder that was progressing quickly. We are to take a wait and see approach in so far as the suspected epilepsy is concerned. Without capturing an event on EEG, we can only guess at treatment, and it would be difficult to assess the effectiveness of that treatment. It is better to wait these events out until they become more obvious. We are all in agreement that something neurological is at work here. These episodes are still of concern, though we are at a loss as to what is causing them. The good news is that even if they are seizures, they are unlikely to cause any permanent damage and are not likely to be the cause of the regressions we have been seeing.

The loss of skills we have been seeing across the board look like apraxia. Whatever is affecting her is neurodegenerative. That said, we have effectively ruled out the immediately scary stuff, such as parkinson’s and Tah-Sachs. The expectation is that we will continue to see further skill loss as well as more symptoms developing which may be able to point the doctors in a different direction. We have no real way of knowing what we will lose next, or how far things will progress.

There was one hint that came back on the skin biopsy. She appears to have a Complex III deficiency, though, even this was vague. Because published data simply isn’t available to compare levels to in patients her age, we are only comparing the levels to her levels of other complexes involved in the electron transport chain. Complex III is the third of four parts of the electron transport chain (yes, I’m sending you back to molecular biology), which has the end result of producing ATP (adenosine triphosphate) the fuel our body uses at the cellular level. Essentially, this would indicate a mitochondrial disease, except that the mito genes that have been tested already indicate that there are no amino acid substitutions in this complex- meaning we still have no answer there.

The plan is to redo the skin biopsy when she is 5. We will also do the muscle biopsy at that time, as has been the plan all along. The thinking is that this will give her time to develop enough and for the disease to progress enough that they will be able to see the damage on biopsy- not really the greatest thing to think about for mom, but practically speaking, since mitochondrial disease is not treatable the purpose of this would just be to identify what we are dealing with.

For now, the PTEN gene test will be sent out next (two major symptoms include autism and macrocephaly). She is also being recommended for a major genome study. This is a joint study between Children’s Hospital of Pittsburgh and Children’s Hospital of Philadelphia. If accepted, they will sequence her entire genome, as well as those of her brother, sister, Mom and Dad. Hopefully this will be able to pinpoint the genes involved, by lining up similarities, but the testing will likely take more than a year.

The conversation did also turn to her sleep schedule (or lack there of). She is not resting enough during the day. She also cannot seem to stay asleep through the night, so we are to consider trimming her schedule to allow for more rest. Neurologically, the doctor suggested that we stop focusing on skills that she seems unable to do- particularly speech. In her experience it is more effective to work on things that we can accomplish than to tire her out working at something that she will likely never accomplish. This puts school squarely on the chopping block as the first thing to go, particularly in light of the recent email we just received this afternoon from the school (it appears we are being shown the door- story for another day.)

We also discussed the option of medication for sleep, since she seems to wake up at night and stay awake for extended periods. The doctor suggested the (admittedly overly) optimistic part of her wanted to rule out sleep deprivation as a cause for some of the regression. Nobody really believes that this is the problem, but homework is now to get more sleep- sounds good to me!

So, I guess that’s where we’re at for now, which really isn’t a whole lot different from where we were yesterday, but it’s more information anyway. Thanks for thinking of us and for keeping our baby girl in your prayers.

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2 Comments leave one →
  1. rhemashope permalink
    March 28, 2012 12:18 am

    i’m so sorry for what you are going through and that you still don’t have answers. from the little i know of your Joyce… she will fly anyway. prayers for you all.

    • March 28, 2012 1:11 am

      Thanks. This has been a long road of unkowns, but we just have to keep taking each day as it comes. Thank you.

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