A Watched Pee Bag Never Fills

Once I regained my ability to focus after hearing Tuesday's news, I turned to researching. It is what I always do when a possibility is presented to us in regards to KayTar. I google the hell out of it. This is tricky business, I've got to say. If you are given easily to panic and worst case scenarios, my advice is to back away from the Google. You'll find worst case scenarios for just about anything. If you have a level head and you can read past the frightening possibilities and still retain the information you are scanning, then Google can be a useful tool. I've learned more about genetics and neurology in the past year than I ever thought I would know. For every reputable source out there, there are a dozen with questionable information, so keep that in mind. The information you access on the internet is a helpful bridge between what the doctor knows and you don't know, but it doesn't replace a doctor. That said, I couldn't have had an intelligent discussion with our geneticist at any of our appointments with out some time studying online beforehand. It is a necessity. I feel capable in these appointments because I can give myself a crash course beforehand.

Back to the matter at hand. I spent a great portion of the past 24 hours researching in preparation for this appointment and I was disheartened to find that KayTar does not meet the dopa-responsive dystonia symptoms. If I am generous and stretch things a bit, she fits two of the criterion, but the bulk of it, she does not. I spoke with the pediatrician who felt the same way. She was shocked about the results. She said it is miles away from anything on the list of differentials for KayTar. We were both feeling a little iffy about this appointment, but it turned out well.

I was so concerned he would argue that she DID fit the diagnosis, that he would discount symptoms or push us into something, but he didn't. The first thing I said was,"I've been reading and she doesn't fit." and he said, "I know she doesn't. I had to dig and I was able to find only two cases similar to hers. If this is the diagnosis, it is not a typical presentation." Right then I felt at ease. I just needed to know she wasn't a square peg being shoved into a round hole. We reviewed her entire history, discussed new symptoms, reviewed the mechanics of this disorder, and went over the diagnostic plan of action. I am going to skip to the last point for you all, because the rest would be much too long.

Step 1: Blood and urine testing.
Today they drew her blood for a genetic test for DRD. The human genome is like a huge textbook, this test reads only the paragraph that codes for this problem. The test is negative in 20% of DRD cases, so it isn't definitive unless it is positive. He is also testing her urine for biopterin and neopterin, this is also in regards to DRD. We were at the hospital from 8:45-1:30. From 11 on, we were standing around waiting for KayTar to fill her urine bag. She was wearing it from about 10:30. No pee. FOR HOURS. The lab finally cranked the air conditioning to make it very cold and we had to rub ice packs on KayTar's thighs and spine...finally after 15 minutes or so of this, she peed! Halle-freaking-lujah. She also randomly vomited on Josh, who was so late getting back to work because she would not pee, that he went to work in the clothes she puked on. What a dad.

Step 2: Repeated LP.
An LP is a lumbar puncture, also known as a spinal tap. We have to repeat this test because her CSF sat in storage in a lab for two weeks before the most recent tests were run. He has to be certain that the levels didn't somehow change in that time. He has spoken with another doctor, who is said to be one of the top two doctors in this field in the country, and he agreed to do the testing himself and rush it for us. Once she gets the LP, we will know the results in roughly two days. If the LP confirms, then she starts treatment. The LP will probably be scheduled for October 22nd.

Step 3: Phenylalanine infusion.
To explain this one, it would take way more brain power than I currently possess, and chances are your eyes would glaze over with the boring, boringness of it all. So here's the summary, blah blah, proteins, blah, phenylalanine into tyrosine, blah, blah, vitamins, blah, co-factors, blah, neopterin and biopterin, blahby-blah-blah, deficiency, BLAH, dopamine. Blah. Big circle. Got that? ;) I really do understand it...but I don't have the energy to regurgitate it right now. Anyway, they will give her a phenylalanine infusion and then take her blood every hour for four hours and test her levels. If she has DRD, then her body will react a certain way. If she does not, it will respond in the typical fashion.

Basically, we are waiting on the LP to confirm results and then we start treatment if we get the same results. The thing is, since this is an atypical case, even when we do start treatment, we aren't exactly sure what will be corrected and what won't be. She doesn't match the symptoms, so we don't know how her symptoms will respond. We don't know what is from the DRD and what isn't, if she does have it. Right not the plan is just to confirm the diagnosis and treat it. Once treatment starts, we'll see what fixes itself and what is left and go from there.

And so we wait just a bit longer, after all, we've gotten pretty damn good at it.


Wormy, KayTar's new caterpillar friend. They had a big table of all different kinds and sizes of nice stuffies that they were giving away to the kids in the hospital. KayTar chose Wormy and she is just in love.