Good Bye 2008!!!
December 31, 2008
So I am squeezing in the last journal entry for 2008... I don’t know about the rest of you but I am very glad to be putting this year behind us and praying for much better 2009!! Since my last post a lot of things have been going on, it started with what the doctors thought was a urinary tract infection. Konnor wasn’t peeing very much not matter how much he drank and we were seeing crystals in his diapers. After a trip to the ER, a few doctor appointments, countless blood and urine samples it looks like it was due to Xanthine crystals. Unlike Uric Acid crystals or Kidney stones these crystals can not be seen on ultra sounds, you have to do a spiral CT scan. Of course this is a double edged sword because the dye they need to use for the CT scan can damage Konnor’s kidney’s which are all ready showing some signs of calcification. So I am going back and forth with the kidney specialist on whether to do one or not… I would rather know now so we know what we are dealing with, she would rather do more blood and urine tests. And you may be wondering why the Xanthine crystals… it looks like it is because we were giving him his allopurinol dosage all at once instead of twice a day. I wish someone would have shared this great piece of information with me before now!!! Lets just say I learned something, question everything don’t rely on the doctors to actually share all their knowledge with you. I will let you know who wins out in the end…
Those of you familiar with
Konnor really got into Santa this year, he made sure we left out cookies & water for him. I am not sure why the water but I wasn’t going to argue with him… They were of course gone the next morning and Santa even left a note thanking him. J
Let’s see if I can do better about updating in 2009.
We hope all of you have a very happy & healthy New Year!!
Good Days & Bad Days...
November 19, 2008
We all have them...
I don't know where to start, I knew it had been a while since I posted but didn't realize it had been this long!! We had a good stretch of about a month in a half of good days, I was wanting to update all of you but didn't want to "jinx" ourselves. For about the past 3 months we have had Konnor on Valium for his self injurious behaviors. Sometimes we would go for days without having to give him any, which was truely a blessing. Although the past couple weeks have been full of bad days, his biting has really picked up and we have been having to give him his Valium up to 6 times a day. A couple of weekends ago had to be one of the worst, we couldn't leave his side for a minute without him spitting out his binky and biting the inside of his cheek. It has to be one of the most helpless feelings, I wish I could take away all his pain and endure it myself instead of watching him deal with this and not understand why this is happening and why he can't stop himself. Since his biting has picked up he has also been too scared to eat anything because it would cause him to bite the inside of his cheek. So he has been drinking alot of Pedisure lately... Hasn't gone to school for 2 weeks either and with Thanksgiving being next week that will be 3 full weeks of no school, hopefully they will remember him by the time he gets back in class.
Well enough with that, let me fill you in on what we have been up to the last couple months...
Konnor has really gotten excited about school this year, he has a great teacher who is now one of his "girlfriends". Right up there with Hanna Montana, and the best babysitter ever Rachel. He was sick a few weeks ago and had to miss class (it is only Monday & Wednesday) by Wednesday he was so congested and told me he was "Ok and wanted to go to school". Of course I couldn't let him, so once again I had to be the bad guy.
We went to the pumpkin patch with Aunt Donna and Cousin Hunter. We got to see 2 giant pumpkins get dropped from a crane on top of a car, go on a hay ride, go down a big slide into a huge pile of hay, and pick out a couple pumpkins. It was a great day!
~~Halloween~~ This was pretty much Konnor's 1st real Halloween. At 1yr old we didn't take him out, 2yrs he had a cold, and last year we were in China. So he was pretty excited about it this year. We asked him what he wanted to be thinking is would defiantly be Thomas, Spongebob or Elmo and he said a Bee
!! I was able to find the cutest bee costume on line which was perfect! He got to wear it 4 times, Cousin Abe's birthday, Party at School, Party at Rachel's then of course Halloween. By the time Halloween rolled around he was pretty worn out and didn't get into trick or treating until about the last house we went to. He was asleep by 8pm which was a nice change from 10-11 when he usually goes to sleep. 
Keeping busy...
September 08, 2008
It has been a while since our last update so in case you were wondering we made it home okay. Konnor had a great flight, even though we all only got about 3 hours of sleep the night before. He got his new arm braces last Tuesday and we thought they were working great, he loved them and didn’t want us to take them off at all. Until yesterday when we did take them off and noticed a big sore where the brace was rubbing. I can’t believe he wasn’t complaining about it, but that just goes to show how tough he is. Back to the orthotics department on Wednesday morning!! Have I mentioned how much I love Shriners?? They are a wonderful group of people.
We have been busy getting ready for the fundraiser garage sale which is this weekend already!! Thank you to everyone that has donated items for us to sell. If you are a procrastinator (like me) and have items to donate there is still time, please email me at lisa4ken@yahoo.com to arrange pick up or drop off.
No More Doctors...
August 29, 2008
Wednesday ended up being a little longer than expected… Although we only arrived 15 minutes late (7:45) a ton of paperwork needed to be completed and such so we didn’t get started with our 12 hour urine collection until 9am so we didn't make it back to the hotel until amost 10pm. They put the collection bag on and tapped the crap out of it so it wouldn’t leak, which it did so they had to put more tape on it again. Each diaper had to be weighed so they could measure any leakage, even the bedding was weighed in case anything leaked. They also drew blood for additional DNA testing & skin samples which they are going to send to MIT where scientists have recently taken Skin Stem Cells and corrected sickle cell anemia in mice, you can read more at: http://web.mit.edu/newsoffice/2007/sickle-cell-1207.html Anyway they contacted Dr. Nyhan and wanted to start getting skin samples from his patients. They have already sent 3 samples over and were unable to pull stem cells from them, which has them frustrated & baffled. Cross your fingures that #4 is the lucky one…
Dr. Nyhan also said that there are two different medications that they are working on that will hopefully help with the self injurious behavior. One is almost fully approved with grants and the other they are still working on. Either way it has given us a ray of hope that we will find something to help Konnor. Thursday was our free day and we went to SeaWorld. Konnor had a blast!! We went and saw the Shamu show 2 times, the dolphin show and the Sesame Street 4-D Movie. He did really good with the crowds and we only ended up giving him his valium 2 times all day!! Yet again we were all exhausted when we got home but had to fight to get Konnor to sleep at 11pm. Today was our last Dr./Hospital visit!! The department was shutting down early so we only had to stay from 7:30 - 4. They also brought out a Wii to play with to help time go by, too bad we didn’t have that on Wednesday… I am not sure who enjoyed it more Ken or Konnor, okay I will admit I liked it a little too. They ended up taking another blood draw which between the urine bag experience and the needles the poor thing ended up breaking blood vessels in his face from screaming so hard. Even with everything going on today he mostly stayed in pretty good spirits. He is such a little trooper and will forever be our biggest hero!!
What a day...
August 26, 2008
Well today was the day we were setting off to San Diego to meet with Dr. Nyhan. It started off pretty rocky but we have survived. Our plan was to be at my Mom’s house at 4am to take us to the airport, so about 4:12 we woke up to my Mom calling to see where we were. Thank You Mom!! So like in so many movies we have all seen it was the “Oh Shit" mad dash to grab everything, dress and rush out the door. So far I think we actually remembered everything, but I am sure there is something… Thanks to Ken’s driving we made it to the airport by 5 and had no further problems, until the flight. Out of all the flights we have taken Konnor on this was the worst, he was tired and very unhappy to say the least and this was with 2 doses of valium! It made the 2 hour flight seem like the 14 hours we had on the way to China. Well except for the last 5 minutes before we landed when he finally fell asleep.
(Ken taking over)…Our appointment with Dr.Nyhan went well, very informative, personable doctor. Though we have found that even the top guy is still learning about this. Lots of question marks still . We are going to a hospital right up the hill from us (mission hill) to do the first of 2 twelve hour sessions to track Konnor’s levels with the medicine he is on for ridding his body of the purines, should be a great view from up there, Thursday we plan on going to SeaWorld trying to beat the Labor Day rush on Friday (our second session is on Friday). Konnor is pumped to see Shamu again.
(Me again)… To update you on what has been going on the past few weeks, Good Stuff First
* We met a couple Lori & David who’s son also has LNS, he just turned 21. Out of the 4 other known cases in Oregon they live 5 blocks away from us! What a small world!! They have given us some great advice and become very good friends.
* Nana and all of us went to the zoo and saw the dinosaur exhibit. Konnor had a great time and we even got to ride the Max.
* Konnor and I went to the Banks tractor pull with Aunt Donna and Cousin Hunter. First there was a parade, hot dogs & ice cream, tractor & truck pulls (we even got to see Cousin Bobby pull) and last but not least the combine derby. The whole event lasted 8 hours, and only one dose of valium. He had a great time!!
Now for the not so good stuff…
* Konnor has really regressed the last few months, it seems like he has read a book about what LNS patients do and is doing it! The new medication we were trying him on for his self injurious behavior was not working so we have we taken him off and are just relying on the valium now, which isn’t working too well… He wears his arm braces 24/7 now and has started biting his lip again. Personally I think it is because he has to wear braces that make it unable to bend his arms at all, we have custom ones in the works and will hopefully be getting them Sept 2nd. We went to a new dentist (thanks Lori for the referral) he filed down Konnor’s canine teeth to see if that will help at all. Well it has been a week already and one side of his lip is healed but he has been focusing more on the right side now. Our next step will be a mouth guard and if that doesn’t work we will have to pull his teeth.
* We got Konnor’s DNA test back a couple weeks ago. They could not find a mutation but did find a “possible deletion of exons 7 through 9” Once again this has his doctors puzzled because only 14% of LNS patients actually have a deletion instead of a mutation. So with an estimate of 700 people in the US with LNS only 98 of them have this. WTF!!??? And they don’t even have a carrier test for it so I can’t get tested to see if I am the cause of this. They are working on one maybe within the next 6 months or so… Dr. Nyhan did mention that it could possibly be a mutation that they just can’t find, they recently got a new grant a couple months ago for more new research so maybe something new will come up.
I think that is just about all of the fun and exciting stuff going on in our lives, we will write again tomorrow night and fill you in on our 12 hour urine collection!!
