update long time in coming

brandon up in the middle of the night with a migraine, fell asleep like this

brandon and ethan outside playing with our friends

melanie getting all hooked up for the gj tube replacement

melanie resting in the ER waiting for them to take us to IR for the gj tube replacement

i've gotten so far behind on updating, ugh. not really sure where to start.

melanie continued with the rash until just a couple days ago. the rash is mostly gone, but she continues to itch--arms and legs, two spots on her back, one spot on her chest, and one spot on the back of her head. saw derm yesterday. he does think it is an allergic reaction to the bactrim--her body is just taking a long time to get over it. he prescribed more potent steroid cream, doubled her zyrtec dose, and gave an ointment for her scalp. hopefully that will take care of the rest of the itch. she sees the allergy clinic later this month to determine if for sure it was a reaction to the bactrim (adding sulfa drugs to her list of allergies gives us less options for choices of antibiotics--so we want to make sure that is what she is allergic to).

we saw genetics this week. discussed quite a few things. talked about doing another muscle biopsy to further narrow down the mitochondrial disease. however, i don't want to do another muscle biopsy if the result won't change treatment. we did send out more blood testing. what we are really hoping is that we can find another (treatable) disease which is causing the mitochondrial disease. we don't know whether her mitochondrial disease is primary or secondary, but if it is secondary then we really need to find out what the primary one is so we can have some hope of treating it. the geneticist referred melanie to neurology because of the new tremors and increased neuropathic pain. we saw neurology this week. she thinks the tremors are enhanced physiologic tremors--meaning benign tremors that are enhanced either due to her medications or some other cause. at least nothing to worry about. melanie also had a hearing test which was normal (really nice to have one of those once in a while!).

melanie playing a game while having her hearing tested

melanie's pain continues to be "better-controlled" with the medication regimen we have switched to. she still has many significant times of pain, but it is better than it was. she got to play outside in the dirt one day with ethan when the weather was cool which she just LOVED! she came in feeling completely miserable though, low-grade fever, lots of tummy pain/nausea, and completely wiped out. zofran helped and she was able to go to sleep.

brandon doing a wheelie

she has continued to experience a lot of neuropathic pain--getting dressed can be a major issue as the clothes rubbing on her skin hurts.

she is on a schedule of slowly tapering down the concentration of sodium in her tpn. when they decreased it this month her body went a little crazy for a while--her urine output more than doubled and she gained about 1.5 pounds (yes, with all that urine output you would expect weight loss, but she is melanie and does things her own way). her serum sodium dropped a bit but has rebounded. we checked urine electrolytes, and again she had a high concentration of calcium in her urine. we know she has nephrocalcinosis (excess calcium in her kidneys--puts her at risk for kidney stones) and the high level of calcium in her urine is not good. her nephrologist was consulted. the problem is, at the same time her serum calcium (calcium in her blood) is low, so they are wanting to increase the concentration in her tpn. . . .but, the more we put into her blood, the more it adds to the nephrocalcinosis, and the more she spills into her urine. it's a vicious cycle. we know her kidneys are already at risk so we want to limit the calcium . . .but her bones are also at risk (already undermineralized) so we want to increase the calcium. ugh.

melanie's leg braces are finally in. she will go have them fitted on monday. hoping they will be of help as she has had more pain behind her knee lately.

melanie got to go to the house of bounce recently. she took a few rests, but she had a WONDERFUL time! she got very tired after about a half hour, so we went home. thankfully she recovered well with a good night sleep that night.

having a GREAT time at the house of bounce!

taking a rest at the house of bounce

our house is coming along very nicely. we are so excited that the big move-in day is getting so close!!!! the dedication is this saturday, we get the keys next friday (the 14th), and we are officially moving in on the 22nd. we are looking for some volunteers to come out and help with painting a base coat on the walls on saturday, august 15. if you'd like to help, please send me an email! we are so very thankful to all those who have had a part in making this dream come true!