Today is Sasha’s official due date and so far there is no indication that Payson is anxious to arrive. So much for my full moon theory!
Speaking of Sasha, she totally harassed me yesterday via text message! Wait, it is still harassment if I pretty much asked for it? You see, on Tessa’s first birthday I helped Grandpa shop for a gift. In my infinite aunt wisdom, I helped him pick out one of those popper things. What are they actually called? They’ve been around since at least when I was a baby. It looks a bit like a little vacuum and when pulled or pushed the little balls pop and make all sorts of annoying noise. Know what I’m talking about? From a mom point of view they are evil. From Crazy Aunt Mandy’s point of view it is the ultimate fun… no batteries, no off button and lots of noise. Apparently this is Tessa’s current favorite toy and Sasha had too much fun text yelling at me yesterday afternoon! Misty & I are so good at this aunt thing that we don’t even have to coordinate to be the most awesome (and annoying) gift givers ever. Sasha says that I should expect payback, but I say that any gifts I buy her kids are only payback for all the awful things Casey gave my girls!
Other stuff… I took these photos of Alex on Tuesday. I was just taking them because she’s adorable, but they show pretty well how her body turns into a little pretzel. They also show how she can smile through pretty well anything.
Yesterday morning was a bit rough, but she seemed to feel better as the day went on. I think that is because the further into the day, the more medicine she has had. There’s also the fact that Nonnie came to visit us yesterday and Nonnie visits are always nice. By yesterday evening she was cracking Drew and I up with her silly smiles. Unless she is absolutely 100% asleep, she is never completely relaxed, but last night she was about as relaxed as it gets while awake. We joked that she looked a bit stoned, but I guess we shouldn’t say that considering the amount of medication that she takes every day. Even so, she was being funny and I had to pull out the camera. I think it’s funny that her nostrils flare when she laughs. Silly girl.
Cheryl & Alex often listen to music on Alex’s computer during therapy. Cheryl brought some different kids CDs for us to put on Alex’s computer and I think the motivation there was twofold. On one hand she is just awesome, but on the other hand she is likely a bit burned out on Taylor Swift. I’m quite the computer illiterate, so I talked Drew into transferring these new CDs to Alex’s computer Tuesday night. All morning I’ve been listening to the Kids Bop version of Grease and Alex is quite enjoying the new tunes.
In other Alex news… she has been waking up at the crack of dawn lately. I’m SO not a morning person, so this is quite an adjustment for me. I have, however, been able to work in an extra feeding every day. We have done 5 feedings a day for a long time and I’ve bumped her up to 6 feedings a day in the last week. Approximately every 2 hours and 15 minutes I give her a tube feeding with 8oz of Pediasure, 2 oz of water and whatever medication is scheduled. She is currently on 5 prescription medications, in addition to Claritin, Ibuprofen, Miralax and Melatonin.
Yesterday I emailed our neurologist in KC, Dr. LePichon, about what else we may be able to do find a better level of comfort for Alex. A while later I was CC’d in an email that he wrote to Dr. Hayflick, seeking any input. She is pretty much the top of the food chain when it comes to NBIA. NBIA stands for Neurodegeneration with Brain Iron Accumulation. PKAN (Alex & Emma’s diagnosis) is one of 9 specified genetic disorders that fall under NBIA. (Current statistics show that even with this broader category, the prevalence of NBIA is only about 1-3 in 1 million. PKAN compiles approximately 30-50% of that statistic.) Dr. LePichon has reached out to Dr. Hayflick in the past, particularly while we were in the hospital with Emma and struggling to find any level of comfort. This is such a rare disease and can vary so much from patient to patient (hello, just look at how differently Alex & Emma have been) that networking is particularly helpful. We haven’t heard from her yet, but maybe she will have some sort of idea to help Alex.
I’m pretty sure that I explained all of this last summer but, Drew and I remain unwilling to take the risk associated of DBS (Deep Brain Stimulation). It is literally awake brain surgery, electrodes in the brain, a battery pack under the abdominal skin and multiple surgeries & doctor visits (at least to KC and possibly further from home)… all in the hopes that symptoms would lessen for a short while. There isn’t a lot of evidence on PKAN kids and the evidence that does exist suggests that any improvement only lasts a short time (maybe one year) before symptoms return in full force. Any possible benefit is only assuming that she could tolerate and recover from the multiple surgeries and all the travel. Drew and I have definitely noted that higher stress levels (even good stress) often comes at the price of a significant decline, more pain and less function.
There is a deferiprone (new drug) trial going on in Oakland California right now for PKAN kids, but we chose to not pursue that last summer. For one, Alex can hardly tolerate being in the car for a short while, so I can’t possibly imagine air travel for such a long distance and all the physical & emotional stress associated with the travel & study. Again, it is a study, so there would be no guarantee that she would receive the drug or that it would work if she did receive it. If this had taken place 4 years ago (or was closer to home) then we would have absolutely been on board, but at this point in Alex’s disease we are not willing to sacrifice the quality of life she has.
My point in going through all of this… there is no easy answer when it comes to dealing with PKAN. Even the most extreme options are very limited and questionable. As has always been, Drew & I are most concerned with Alex’s comfort and quality of life. Of course, her life changes as this disease progresses, but she is still happy, alert and emotionally involved in life. Drew & I feel that maintaining those three things, while respecting what her body can & cannot handle, are the most important things. God has this under control, I’m sure of it.
It’s beautiful outside today, Alex has physical therapy this afternoon and I’m looking forward to half an hour at the gym. As for now… I’m thinking snuggles with Alex while reading her a few books.