We saw a pediatric Nephrologist at Mott today, who was a fantastic addition to our team. Unfortunately, though, it appears we will be seeing quite a bit of him. The 'kidney stuff' as we've been lovingly calling it for the past couple of months will need to be followed very closely.
After a nearly 3 hour appointment, he explained that Audrina has one of two possible things going on, and then ran bloodwork to confirm which it might be. Both conditions can be caused by poor mitochondrial function. The first is Nephrotic Syndrome, and the second is Renal Tubular Acidosis. He ordered a lot of blood and urine tests which will help him differentiate which one it is and assess how much it will affect Audrina.
He saw some major pH imbalances today in her, so we are awaiting lab results to back that up but if we are headed back to acidosis (oh, that's why she's throwing up!) they will prescribe bicarb supplementation and hopefully prevent some of these episodes down the road. It sounds like he will be treating her pretty conservatively. I think we should know the results by Monday.
We also discussed the possibility that the gene mutation in Addison may be present in Audrina as well, and its known ties to Nephropathy. He said a partner of his is doing clinical research and as soon as he diagnoses her she may qualify for a study that gives us access to more free gene testing!
I said "We love free stuff - and answers! Count us in." :)
All joking aside, we feel extremely confident in his abilities and are glad someone is finally making sure that is addressed properly. The labwork was difficult as Audrina didn't want to bleed. The lab girls were super sweet and did a great job of trying to distract her and make her comfortable. They made her a little glove-balloon animal too which she snuggled all the way to the car. We were both totally exhasuted by the time we got to the car, especially after all that info - mommy couldn't remember which floor the car was on, so we also took a long walking tour of the parking garage. Oops!
We saw the ped yesterday and Audrina is down half a pound from all the vomiting (Boo!) but hopefully once her G-tube is in and working we will make up that lost ground quickly. He also confirmed that the back arching and screaming stuff she's doing is charactertistic of neurological issues and that he guessed she would be dx'd with a movement disorder. Got a referral to a new neurologist, I hope he is good because to be completely honest, our past Neuro experience has been less than helpful with both girls.
Finally, we had another sleep study done. Audrina had 16 apneas in a 5 hours stretch of sleep. She also spent the majority of the night that she wasn't having apnea in periodic breathing which they don't want to see at this age either. I have a feeling nighttime oxygen is in our near future again, we've only been using it as needed a couple of nights all summer.
Tomorrow, Adam and I have a date night planned, which I have been anticipating all week as we join some friends is support of Project iAm, a local autism scholarship provider - they are having their annual Acoustics for Autism benefit. I wish I could donate so much more than our $10 cover to charities like theirs, especially ones helping local families here in the Toledo Area. I know our would be lost without the extra help sometimes and I'm glad other families are getting that same support from great resources in the city as well.
Awesome verse today keeping me inspired....
"Yes, I am the vine; you are the branches. Those who remain in me, and I in them, will produce much fruit. For apart from me you can do nothing." John 15:5 ♥
Thanks for your continued prayers, our family has a couple obstacles looming ahead with surgery, etc. and all our many appointments and therapies that are ongoing, its quite a juggling act at times and we don't always have the energy to keep going - God carries us through during those times. Thanks for reminding him we are here and dedicated to his plan for our family!