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.
Well, I'm glad you went to the doctor so prepared. And it sounds like they're taking the right steps. Sorry to hear you have to wait a little longer, but hopefully you will get some definite answers out of this one.
Still crossing my fingers. Ack!
Okay so where are timeline on this for initial answers? Mid-next week?
I agree about Google and paranoia. Dude. I googled when I got my diagnosis and asked my husband to just take em out back and shoot me (steathily, since he'd have to raise the kids and get the insurance) and save us all from the expense and misery. ;)
I understand #3 because I watched the hour long special on it on Discovery Health. Yeah I know, we're geeks that way.
I'd say hang in there and be patient but goodness, I'd be telling it to the master I think, but you know you've got friends if you need them, even if some are out of town all the time like when you really need them. I suck. Sorry. ;)
P.S. OMG J's friend is dating the NICEST nurse from TCH and I've been meaning to tell you to watch out for her and a few other tidbits too. Remind me!
Loved the title of this post! When we took Elyse to emerg last January with a suspected wicked UTI, we waited hours for her to fill the pee bag. When she finally did, a loud whisper went through the nurses, "She peed! She peed!"
I'm a terrible Google addict too. My doctor always says, "You've probably already read about it." Yes, well, ahem, I like to be prepared.
Hoping for some more definitive answers for you all.
See, this is why you are levelheaded. Every bit of that post made perfect sense, right down to the blah big circle part ;)
My hope is in God's hands. Kaytar has the most amazing momma to watch her back, so I figure she already got a pretty amazing plan ahead of her.
Oh wormy is adorable.
Sounds promising and that the treatment can only help. Keeping my fingers crossed. Atypical or not it is pretty incredible that this can be treated.
I'm reading through a list of proteins here myself and wondering if the elusive 'they' will manage to find a treatment for Julia in her lifetime.
Man its hard to type with all your fingers crossed.
Man can I relate to the google freakout possibilities. I can also relate to standing around for hours waiting on a urine bag to fill! I'm impressed that they're getting on the lumbar test so soon, and that you've got top dudes in the country talking about Kaytar's case, all very good signs. Maybe you'll get those EEG results soon now that you've got this stuff going on. Nursing school will seem like a walk in the park after all you've learned these past 2 years.
It sounds like the doctors are all trying to do the right thing and at least that is a comfort.
hmmmm well even though this isn't exactly a sure thing I'm glad it's something. Waiting for the pee sounded like torture!
Okay, perhaps this is a stupid question...but why not just skip the LP and do the phenylaline infusion "test"? Just curious on that one since it sounded pretty defenitive itself.
And I know you were starting to be less than hopeful after reading about DRD initially. I'm so glad there are people out there who know to look for unusual presentations so you guys can figure out how to help sweet KayTar.
Looking forward to more and kudos to Josh on the yak-attire. Jason takes off his work clothes as soon as he comes home thanks to my little spewers.
I still have my fingers crossed too but it truly does sound promising.
And I'm a cyberholic too. I've learned to back away from google because I self diagnosis EVERYTHING. Wrongly I might add.
Sending positive thoughts.
Strangely enough, I like Google BECAUSE it gives me the worst case scenario. At least I know what I'm dealing with.
Cautiously optimistic seems to be the theme here. I'll be thinking of you guys and sending good thoughts your way. You're one step ahead with all the research you do AND a doctor who seems to "get it". Keeping my fingers crossed.
I am with you, holding your hand and praying soft words for your baby girl.
Kyla, I'm just so impressed with the knowledge you now have on all of this "stuff" and am equally impressed with your amazing doctors. I'm so glad to know no one is forcing a diagnosis on KayTar. I hope you are able to get some real answers soon. It's all very exciting.
And wormy is just adorable!
you never cease to amaze me with your graceful heart.
am thinking of you guys.
Once more, I shake my head in absolute amazement at your steadiness, your super smartness, and your general awesomeness. I will be thinking about you all ...
I admire you so much. And I know you're going to read that and instantly brush it off, but it's true and you can just say to yourself "I AM admirable", and save me a lot of arguing with you. ;-)
I will wait patiently over here. Good for you for not hanging all your hopes on that diagnosis, and for looking at the symptoms as they really are and not trying to fit her into a category where she might not quite fit. GOOD FOR YOU!! I am very, very impressed with your Geneticist as well for acknowledging that she doesn't fit exactly, but for looking hard and seeing that she might fit in reference to those other two case presentations.
So I'm waiting. Patiently. And I'm sending all of you big loves, hugs and squeezes while you wait too. Can I mail you some pumpkin whoopie pies?
Alas, more waiting. But, man, you have a good head on your shoulders!
Well, it sounds like you've got the right geneticist . . . I really hope you're closing in on what's going on so you can start to try and treat it!
And I'm a Google-holic, too. Enlightening and scary, all at the same time!
"DO NOT GOOGLE THIS", my weary nurse-practioner always says to me.
Best wishes - this all sounds so very hard.
I'm sorry that you will have to wait a bit longer to hear the news, when shall you get the information? I hope all goes well Kyla! Give Kaytar a big hug for me! She's such a brave girl for having to put up with those sorts of tests so young.
Wow - what a saga. I hope you get more answers soon.
Yall have been waiting for so long. Thankfully, yall are getting in so quick for the LP. I hope and pray Kyla yall finally get some answers.
Thinking of you and Kaytar :)
I won't uncross my fingers until you get some definitive news.
I can definitely relate to the google frenzy--like I always say, I think I could have an honorary degree in medicine.
Atypical or not, she may still respond to treatment, right?
I am holding you and her in my thoughts.
Your strength and maturity never fails to amaze me.
And Kaytar. What a trooper.
And will answers come soon?
I had a dream last night that you stopped your blog because your "journey" was complete and you found your answers. Although I do hope you found your answer for Kaytar, you better keep up the blog! So weird I was dreaming about it, though! I think I read this just before I went to bed.
I'm so glad that the paediatrition was right on the money. I'm so sorry that the waiting game continues.
Good night. It's even more exhausting reading it that hearing it first hand. Josh deserves a medal. (Not just the one made of vomit.)
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