Long tunnel...maybe a glimmer of light... :)

tAlthough the month-long Plague of 2011 is still going strong (I have ear infection, UTI and stomach bug, Brian had the chills and stomach trouble this week and Mason and MJ are not totally well from sinus/stomach ick) - there are signs we may be getting close (I hope!)

Mason is tolerating his feeds better and smiling a little more between. He is 2 lbs lighter but still doing his supported sitting and still a pro at tummy to back rolls - just getting tired quicker.

We had an immunology evaluation yesterday and it was determined he needs immune globulin replacement. This I dread in some ways (we have to be taught to do 2+ hour sessions of  Hizentra infusion shots over a pump weekly for undetermined period of time -this is a link that teaches us how). A nurse will help us get familiar with this at home. Please pray that there are no adverse events and that it does not distress Mason. Pray it does what we all are hoping - that it gives him a huge health boost both for his frequent illness and his nervous system issues. Pray for Micah to stay well too, as Mason's immunologist feels that although Micah responded well to his Pneumovax shot at one month check, he may very well have lost that protection since he has another sinus infection.

He also does feel that Mason's rash is probably "vasomotor instability" (autonomic/nervous system attacks) if not responsive to claritan (we'll give it a week on that). We will discuss this problem with neurology in 2 weeks.

Another thing I am checking into is to see if genetics can help us get him on anti-oxidants (especially NAC, N-acetyl-cysteine). I want to try that because he is missing the GGT6 gene (codes for enzyme that's important to glutathione homeostasis--this helps your body deal with stress and toxic damage/free radicals), so we are concerned he may not be able to handle oxidative stress from toxins as well as he should; since his worst crises seem to relate to medications (narcotics/seizure meds/sedation/antibiotics)  and illness we want him to have as much help on board as we can.  NAC can correct GGT deficiency, helps immune function and helps prevent free radical damage to nerves, builds connective tissue (we need all the help we can get with that too for loose joints and reflux issues) and may be helpful in cystinosis for whatever that's worth (the gene for which is extremely near to our deletion - although it's unlikely that's a problem it can cause need for extra hydration/thirst, photosensitivity (huge with both boys), thyroid, nerve and insulin issues (all issues in our family).

Thank you for praying us through this, it is pretty tough right now since we all feel bad and very exhausted but looking forward to some positive change coming soon!

PSALM 91

For such a time as this?

Our last post was about Mason's rash that he had gotten so bad after surgery, trying to figure out if he was allergic to something or what. We had doubts that it was allergic because he has it so often, almost daily, but it just gets worse under certain circumstances. The allergy doctor said we could try Claritan in case it's allergic (but it's not really hives, it is totally flat.) It's more like flushing or blotching all over. 

I strongly believe (although I'm just a mom not a doc) that the cause is related to his nervous system, not an allergic reaction. In other words, that he rash is the result of something called AUTONOMIC DYSFUNCTION. The ANS (autonomic nervous system) controls involuntary processes like saliva secretion, digestion, blood pressure, temperature, heart rate, vasoconstriction/dilation (blood vessel behavior), bladder release, etc. I think Mason is having autonomic crises whenever he is sick or stressed and here's why:

The slightest agitation is setting him off :( In this case, it is temp changes and/or sitting up.

Here are pictures of what kids look like who have this problem. CLICK HERE FOR PICS OF RASHES OF KIDS WITH AUTONOMIC DYSFUNCION It looks and sounds EXACTLY like what Mason deals with when we are in the ER with him screaming for no apparent reason and covered in these blotches. I think his autonomic nervous system is going haywire - his bp and temp are all over the board, he bradies or soars in heartrate, his rash is crazy, his guts are completely off/not tolerating feeds whatsoever, he does not regulate well (inconsolable crying), doesn't tolerate position changes, stops gaining weight, congested unlike anything you've ever seen, and his bladder seems like it fills to the size of a basketball before it empties causing him extreme distress and multiple times waking at night and having to redress him due to a soaked crib. Basically it comes across as anxiety to the 100th power. Here is what Mason continues to look like daily (and this has been a terribly stressful month for all of us, even after he recovered from the surgery a stomach bug/sinus infection/diarrhea virus have hit hard and the guys haven't all been able to shake it):

The question is, what is CAUSING the autonomic system to misfire? There are only a handful of known conditions that exist and cause this problem, and they are mostly metabolic diseases (mitochondrial disease like myopathies, Familial Dysautonomia (Riley-Day Syndrome) and other "hereditary sensory and autonomic neuropathies." 

None of these sound very encouraging to us, but obviously Mason doesn't have the classic version of whatever it is since it is likely caused by his deletion that is undescribed. However that deletion may very well cause a variant of one of these conditions (and I am praying hard that it is one of the milder forms, non-degenerative, as so many of these are progressive and makes me more nervous, from a human standpoint, than I have ever been with his health). Here is a story about a boy who has the degenerative type:

MEET ANDREW (click for the story)

Anyway, Andrew's story sounds very familiar as to what happens to him. Even I have dealt with some very minor autonomic dysfunction my whole life - in fact when I was in my early twenties and had a painful health event (endometriosis/ruptured cyst) I had a strikingly similar array of symptoms - my heart would race, I would have alternating very low or high bp, beet red/flushing so bad the docs thought I had lupus, I couldn't gain weight (this I thought was a wonderful fringe benefit), and I couldn't tolerate eating much due to the pain. I also would get so stressed during events like IVs that I would pass out and once had a tonic seizure (what Mason has). As a child I passed out while just standing up while my mom fixed my hair. All these were "vasomotor" or mini autonomic events but it was annoying more than anything else, and no one thought it meant anything was wrong, just that I was "super sensitive to the affects of adrenaline." 

Do you ever think you go through things for a reason? I think the reason for this entire experience was to help us connect the dots to Mason's nervous system issues that far surpass mine.  Post -surgery a similar cascade of symptoms happen to me until I hit a brick wall and my thyroid kicks my metabolism into lockdown and then I can't LOSE weight. Biscuit has his own array of nervous system meltdowns when he is sick or following an illness - he goes numb in weird places at the slightest pressure, he sweats like crazy and flushes at the slightest exertion, and his guts are all out of wack as well (reflux, diarrhea and constipation, GI pain).

One thing to consider is that although he may not be allergic to surgery anesthesia, he very well may be responding poorly to its effect on his nervous system. The effect on his nerves may be more lasting than just the duration of the surgery. We need to discuss this and consider a new anesthesia approach that uses a more appropriate drug used in such cases. We also want to contact his endocrinologist and see what his latest thyroid labs were. If they are significantly lower than the previous check (they never told me results), I may request to halve his Synthroid and see if it slows down his metabolism and improves the picture any. In me it tends to yo yo and is hard to keep at even levels. When I am hypOthyroid, I gain weight but feel better. When I am hypERthyroid I lose weight, I get migraines and the array of symptoms above. It may be in Mason's best interest to keep his TSH levels more on the moderate side than low, to see if it makes a difference. I may also ask about magnesium supplements (these help me significantly to avoid the stress/migraine effect) if either plays a role? Hydration is also extremely important for his bp etc.

Most of all we need to find a doctor who knows a ton about autonomic conditions and how to keep him stable through stressful times. One huge prayer request will be to be able to keep unneeded lines, wires and drugs out of him as these are what seem to lead to a downhill slide most often due to constant infection or side effects. Thanks for your prayers for guidance and direction, protection for Mason and healing. He is having a hard hard time of it right now with breathing (on frequent nebulizer treatments for wheezing, and Zpack for sinus infection).

We think the reason for the difference in his pupil size is the albuterol getting in his eyes (says it is a side effect). 

This is the happy little guy who is begging us to help him feel better so he can get back to being himself :D

"For if you remain silent at this time, relief and deliverance...will arise from another place, but you and your ... family will perish. And who knows but that you have come to your.... position for such a time as this?” Esther 4:14