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!
That is so amazing how you know so much about the genetics stuff...but I guess when its your kiddo you have to learn a lot about that stuff LOL I know I have learned way more than most nurses know!!
ReplyDeleteWe have been thinking about you guys lots and continue to send prayers your way!