In a valley

June 14, 2012

So I've promised I would write updates periodically on the status of Kai, but honestly I haven't written in a while because there wasn't much to write about about...just dr after dr, test after test, answer after answer that came back "inconclusive".  I also don't like re-living all the frustrations I have every time they come back with "that test didn't show us anything, so we're going to send you to another new specialst and run another set of new tests".  But I guess that's reality right now so I'll fill you in.
Back in April, we were SUPPOSED to get answers from a test that they had done 7 months earlier called an "ataxia panel".  This was an EXTREMELY expensive test ($38000...yes that's 3 zeros!!) that was supposed to show what, if any, type of ataxia Kai might have.  They had warned us it would take 6 months to come back, and it got postponed a month because they said they "ran out of dna to complete the test" so they had to draw more blood (4 more viles to be exact...dr said it really meant that the lab probably dropped the tubes they had left from his original 8 vile draw!) and re-send it off to be completed.  Well, April was supposed to be the answers to those.  The last week of April, I got a call while I was away for a training in GA for church, and they told me that the lab had sent them a report saying they had "discarded the test because of not enough dna and they couldn't add another draw to the test because they didn't like to mix that many different draw samples in a test".  Yep, so they (the lab) threw out the blood.  And with it threw out the test, and gave us NO answers at all saying that they couldn't give even the results they HAD found because it wasn't a complete test.
So back to square one we went.  The doctors conferenced and researched and tried to come up with a new plan.  So last month we met again and they decided to hold off on trying for the Ataxia panel again, and this time they ran a Mitochondrial Panel.  Some of the Duke team (don't forget, we have DOZENS of doctors following Kai's case on a regular basis, so every one of them has their own opinions!!) feels that there is a possibility with Kai's Co-Q10 levels being SO low (near 0!) that he has a mitochondrial disease of some sort.  The good part is that this test only takes about 6 wks to come back (that's FAST for his tests...most take 3-6 months!).  The rest of the doctors don't feel it's mitochondrial related but that it's some other extremely rare combination of disorders.  So we will wait until this mitochondrial panel comes back, and if it shows no answers, we will proceed with a test called a Human Genome Screening.  You can google it if you're bored, but it's a brand new test (literally been available for only about 6 months, and is only done in 3 labs in the entire country...thus CRAZY expensive...like $30-40000!) that supposedly looks at a person's genetic dna, as well as their parent's dna, and then puts it into a computer that scans it for literally EVERY possible known genetic disorder known to man.  The thing is, if it's something the computer has never seen before, it won't show up an answer even if there may be other people out there with that disorder.  So it's a stab in the dark because it's so new, but Duke is expecting to be awarded a research grant at the end of this summer that will allow them to use 300 research participants to do this test on at NO charge, and our specialist at Duke happens to be the person totally in charge of this research study and has told us Kai is #1 on the list of participants so we would not have to pay a single penny for that test!!!  That's a miracle for sure since insurance already said they wouldn't pay for it!
So bringing you to this week...I took Kai to Charlotte to see our team of specialists there on Monday.  We drove down 3 hrs Mon morning, and spent another 3 hrs with the specialists there before driving back.  Our Charlotte dr isn't in agreement with Duke.  She doesn't think it's mitochondrial or ataxia.  She strongly feels it's an extremely rare form of Muscular Dystrophy.  Once again...problem being that it's SO rare that there isn't a test for it so they have to eliminate all other options before narrowing it down to a diagnosis...taking at least a year if not more.
So here we are.  No answers ... only from insurance that they don't want to cover his therapies or orthodics (both prescribed...therapies being 3x a wk!).  So I apologize for my negative attitude lately.  I know I let a lot of my frustrations vent on FB, mainly bc it's a "safe place" to vent and not be hurting anyone but just venting to air :)  It's a tough road to walk when you watch your sweet, intelligent, handsome 8 yr old boy struggle daily with the normal things that you and I take for granted...sitting, standing, walking, writing, talking.  The things we do without even thinking, and require every ounce of energy my little man has.  And he's a fighter so he won't give up and he won't quit and he is the king of modifying and adapting to make it work so he can be "normal".  But as a mom, it hurts.  It breaks my heart to see him struggle and not be able to help him and when he asks why, have no answers for him.  So your prayers are appreciated more than I could ever tell you.  There's a lot of you friends and family that have let me just vent and cry on your shoulder without saying a word and just hugging me and telling me you are there.  Thank you.  Please don't quit praying.  I don't know how to ask you to pray, because I don't know how to pray myself anymore.  I'm just thankful that when I don't have words, He still knows my needs and hears my cries.  You know how the Bible says He gathers our tears in a bottle...well, I'm pretty sure He had to trade out my bottle for a vat recently :)
I will try to keep you posted as we know more... but please know how much I appreciate each of your prayers, hugs, tears, laughs, and encouraging words.  I may not respond to each e-mail, but I DO read them and appreciate them more than you know!  Thank you!!