Update on Marie and Josie

Over the weekend Marie had a fairly rough time. She vomited three times on Saturday afternoon, and on Sunday she was sick 9 times total, 8 times from 5-9 pm. She couldn't even keep water down, and, since she can't go for longer than 8 hours without eating/drinking we were getting pretty concerned. Finally, after a bath she was able to nurse and keep it down (we were only about a half hour from having to go to the ER and get an IV put in at that point).
Monday morning we were off to the clinic to make sure she wasn't suffering from an ear infection, urinary tract infection, or sinus infection (basically a search for anything that could be causing the vomiting). It took them 4 tries to put her catheter in for the urine collection (HORRIBLE) but luckily all the tests came back negative. That means we're suffering from "unexplained vomiting" a symptom of mitochondrial disease that is sometimes seen. Marie also has been 16 lbs sine the beginning of September so she hasn't gained weight (though she got 2 inches taller) but as of Monday morning she's lost 2 ounces, putting her at 15 lbs 13 ounces or so.
Monday got even better when, at about 6 pm as I was fixing dinner Josie let out a blood curdling scream. I ran into the living room to find her hand covered in blood, and a good stream of it coming from her right ear. Luckily Luke got home just at that moment and I took Josie to the ER while he stayed with Marie. That's right, 2 trips to the hospital for me on Monday. I apparently won some sort of crap lottery.
After an examination we learned that Josie had only scratched her ear canal with her finger pretty good, but her ear drum etc. is fine. The downside, she's got yet another ear infection. We'll have to contact her ear, nose and throat doc in Ft Collins to determine what to do about this. She's had at least 10 ear infections (I've actually lost count) since getting tubes in 2 years ago.
She was hilarious while being examined though. She explained very seriously to the Dr that she had boogers in her ear and she was simply trying to get them out with her finger. She also explained to him that she has bones in her skin (she must have thought he needed to know about that) and that she knows she has an ear infection when there's sugar in her ear. She also promises not to stick her finger in her ear again, but since I've had to get on her about it a time or two since I'm not sure how sincere that promise was.
Monday Marie didn't vomit at all, which was really good. Sadly, yesterday evening she was sick again about 15 minuets after eating dinner, and she vomited again this morning after nursing. I'm documenting all of this in my little day timer to take to the Dr's at Children's when we have our next appointment.
Marie did have her second physical therapy appointment yesterday afternoon, and aside from her being terrified of the physical therapist (stranger anxiety is setting in) she did pretty well. The therapist points out Marie's strengths, which helps me to feel a little better.
We will have our first appointment with the occupational therapist on Thursday, apparently he specializes in fine motor skills.
So, that's where we are now. I'm struggling to stay positive as right now I'm overwhelmed. Her vomiting is really discouraging, especially since all I can do is hold her and coo to her when that's happening.
Thank you to anyone who happens to read this, at this point it's more of a therapeutic thing for me to type out what's been going on and get it "out". Also a huge thanks to my friends Britt and Jess who have magically been there just at the moments when I needed a boost. Until later... much love.

And more....

Sleepy girls...










Josie dressed herself, and it was too cute not to take a picture.

























Where's the food!?












Singing in church for the Mission/Harvest Festival. Josie is on the far right, in a purple dress. She's right next to the little boy in a green polo shirt.

And More...

Do you think she looks much like her Daddy?





















A very cranky bunny!










The sisters...












I think this may be one of the best pictures I have taken in a LONG time!

More...

Annoyingly enough, blogger will only let me post 5 pictures at a time, so here's the next installment.







Sly little kitty cat.











Head in the clouds.











I have a balloon!











The lady bug and the dragon!


The always beautiful Josephine.

Pictures...

I'm way behind on pictures, so, here we go...






Matching pj's!!!















Josie at ballet, she has the black top, pink skirt and white tights on....



Such a pretty ballerina!!!

Bow head!

Even she thinks it's funny (Marie is 7 1/2 months old here)!

Just to take you back, here's Josie in December of 2004 at 11 months old sporting a fetching gold bow....

Updates

So, I still haven't gotten our Halloween photos off the camera. It's on my to do list, sadly that list is pretty long.

I did want to update everyone on where things are with Marie since I know many of you are concerned. Since getting home we started her on a "vitamin cocktail" as recommended by the Dr's at the Metabolic Clinic at Children's. Unfortunately, these did not agree with Marie and she was vomiting with frightening regularity. Despite giving the vitamins with meals she just couldn't seem to beat the nausea so the Dr's took her off them. They feel that the forceful vomiting isn't worth the possible benefit from the vitamines at this time. If she seems to to better with the throwing up we'll talk about putting her back on them then (Marie's been throwing up the last few days, but I think it's due to her shots that she jsut received). She has gotten her flu shot, and on Tuesday we finally got her caught up on her 6 month vaccinations as well.

This morning was Marie's first day of physical therapy, and according to the therapist she's doing relatively well (all things considered). She told us that developmentally Marie is only about a month to two months behind. Mentally she is where she should be for an 8 month old as far as she could tell. We now have some exercises to start which will help increase Marie's muscle strength, balance, etc. Our goals would be to get her sitting independently, and standing while holding on to things.

Marie will also do some occupational therapy (hand eye coordination and that type of thing) but we haven't met with them yet.

Luke and I are still overwhelmed, but I think we're beginning to find a way to live with the changes in our lives.

Josie is good, although today she's come down with a rather nasty head cold. She is huge in keeping us upbeat, she's always doing something funny to make us laugh. She has an understanding that God put Marie together a little differently, and Marie needs extra help to do a lot of the things that Josie can do. We've been making sure Jo gets lots of individual attention from us as well.

So, that's where we are today. We still have an appointment scheduled for December 6 at Children's and this is when we'll get the test results. If they all come in sooner they'll call us and we'll go in early (I don't really see that happening though).

On a side note, both Rie's bottom teeth are in, and today she said "Da-da". Josie can also read the word "football" on her own, which is not the first word I would have guessed she would read, but whatever. She's a fireball.

Happy News...

Finally, it seems like we have some good news to share! On Thursday (November 1) Marie cut her very first tooth! The bottom right has come through, and the bottom left is lurking right below the surface. She is so laid back and non-fussy we didn't even realize she was teething! Now that the one has cut through she's been a bit more fussy, but nothing Tylenol can't handle. So, hooray for teeth! It's so wonderful to have a happy milestone to post about after the last month.

She keeps playing her tongue over the tooth, I think it still feels funny in her mouth. She gives the best grins though with her tongue half sticking out.

I'm going to try to catch a picture of that, and download our Halloween pics this weekend. Josie had a blast as a lady-bug, and got more candy than any three year old could handle. Marie was a dragon, and while she didn't really get the whole Halloween thing she was pretty cute. Hopefully I get those up this weekend....

Home

As most of you know by now, we are home again. We got home late Wednesday evening after they removed the pik line and sent us home. Marie slept most of the way, and we're currently just getting back to being in our little routines.

Tentatively, we have an appointment scheduled to get test results on December 6, though that may change. We've started doing the vitamines, frusterating and not going terribly well at this time. We have an appt on Nov 6 to set up physical therapy.

If you'd like to read up on Mitochondrial and Leigh's disease you can check out www.umdf.org. I warn you, this website is a bit of a downer.

That all said, we're happy to be home, and looking forward to Halloween on Wednesday. Luke and I will be escorting a ladybug and a dragon around to the usual places.

Newest news....

Sadly, we no longer have use of a laptop, so updating hasn't been as easy. We can use the library here at the hospital, so I'm doing that now to post the latest news.

Saturday afternoon after 5 unsuccessful attempts to draw blood from Marie for blood tests we were discharged. We went to Greeley to Luke's Mom's house for Saturday afternoon and all of Sunday. Luke's sister Stacey took Josie with her to her house on Sunday afternoon and Josie is still there. She's having fun with her Aunt, Uncle Glendon, and cousin Gavin. Right now it really is the best place for her to be.

On Monday morning we came back down to Children's and met with the Metabolic Dr's. At this stage of the game more testing is needed for a definite diagnosis, but we do have a bit of a game plan. When we get home Marie will begin some physical therapy to keep her from falling any further behind physically (she'll need extra help learning to sit and walk as her body is weaker than the norm). We also will need to keep her out of situations where she's around a lot of young kids. This means no more coming with Josie and I to ballet, we need to sit up front in church not in back with the other families with young kids, no more using the cry room where lots of kids have been etc. This is because Marie really can't afford to get sick. So much of her energy goes to just functioning normally, if she gets sick it could really set her back. So, from this point on, if anyone has the sniffles or otherwise, though we'd love to see you we really have to ask that you only visit our home if you're well.

Monday evening we were re-admitted to the hospital, and yesterday (Tuesday) the put a pic-line in (line running from Marie's inner elbow to her heart) to do the "free flowing" blood draws required for most of her testing. She did well with the anesthesia and came out like a champ. We got some of the blood draws done last night, and another done this morning. Right now they can only do one more blood test today before they've drawn the maximum amount of blood Marie can give in a day (15cc is her max). So, for the additional testing needed we'll have to wait until tomorrow morning. This means another night in the hospital for us, and while it's the best place to be, every one's been as nice as possible, and given us just about everything we need I'm starting to hate it here. Luke and I are really missing Jo and would like to get home.

Also, yesterday was Luke's birthday (happy 27th!) and we'd really like to celebrate his birthday properly. Being without our Josie is definitely a trying thing. But, she's doing wonderful with Stacey and Glendon so I have to take comfort in that.

Marie's good, I think she gets bored easily here. They have toys available and so we've been using some of those, but I honestly think she misses her sister and the comfort of rolling around on the floor and just doing "our thing".

Right now that's all the news I have, hopefully we're home tomorrow (however, the way things have gone I'm hesitant to place my hopes on that). Thanks to all of you for your continued thoughts and prayers, we'll keep you posted. Much love- Luke & Shan

Todays updates

Last night about 1130 Marie had a spinal tap. They collected spinal fluid to evaluate for infections etc (they are still in the process of ruling out a lot of things). That said, they believe Marie has 1 of a group of about 200 metabolic diseases. We have been told that her MRI and symptoms indicated that her brain (specifically the part that controls movement) is not getting enough energy to operate properly.
They say this is a problem with her mitochondria in her cells. Glucose enters the blood stream, is converted to usable energy by a series of steps and is used by the various parts of the body. Marie's problem is that one of those steps along the journey is not functioning properly. So, they are doing some very intensive blood work and there will be a muscle biopsy to determine where along that process the problem lies. If it's at the beginning of the process that is more treatable, towards the end of the process, much less treatable.
Right now we are doing a series of 3 blood tests, and there will be another large draw that must be sent to the Mayo Clinic on Monday.
At this time I'm thinking we'll probably be here that long. My Mom and sister Marika are coming today, and Judy is bringing Josie to us from Greeley (I didn't see her at all yesterday and that really sucked). My cousin Renee came and gave us some much needed laughter yesterday, she made the afternoon fly by and it was so nice to hang out with her.
At this time, if we could, I'd like to ask all of you to focus your prayers on us getting a diagnosis of one of the more treatable diseases.
Sadly, mitochondrial diseases cannot be cured, but there is treatment for some. At this point we are looking at something that Marie will have for the rest of her life, and they've told us there will be certain developmental delays, though they can't say what or how severe at this time. Lets all just pray that it's treatable. Much love- Shan

We talked to the Neurologists.

We've just finished speaking with the neurologists. Right now cancer is completely ruled out. Epilepsy is also a definite no.

The neurologists are leaning toward the tremors being the result of a metabolic problem. They believe that is may be that the mitochondria in her cells are not functioning as they should. The neurologist we spoke with has examined Marie's medical history and pointed out that developmentally Marie has been flatlined for the last month. She's still sitting supported but has been since the end of August and isn't progressing with it, that combined with her poor tone (Marie tends to slump her head and slouch quite a bit) along with the eye tremors and overall tremors lead them to believe that her cells may not be "feeding" her body as the should.

From here they will do a spinal tap, and they're going to draw quite a bit more blood. There will be some very intense blood work done, and the results for this will take up to 2 weeks to come in. They may also do some genetic testing, because if it is that, the family needs to be aware (this seeemed to be a minor concern at this time, so no-one worry too much on that front).

That means, that the latest we'll probably be at Childrens for now is Saturday. They'll send us home as soon as the testing is done and then we'll wait for the results. The spinal tap will require her to go under anethesia again, so that may not take place until tommorow, we'll see. Until later.... much love.

UPDATES

As you most of you know, a lot is going on right now. For some time Marie has suffered from some tremors and we are now at Children's Hospital in Denver to determine the cause. On Tuesday we were admitted, she had x-rays, and then yesterday some more testing. At first the suspected a tumor in her chest (via Xray films) and her tremors were "textbook" for a particular kind of cancer, neuro-blastoma (be aware my spelling sucks, so please bear with me). The cat-scan last night did not find a tumor in her chest, so this is good news. However, we still don't know what's causing her tremors and the MRI showed "something unusual" so we will now be pursuing that. Marie did great with the tests, the put her under but when waking up they let her nurse and she smiled with us not long afterwards.
She's being such a trooper, really just rolling with the flow, playing and sleeping like a normal girl. It's amazing how resilient babies actually are.
I've just found out the will be moving us off the cancer floor later today, so we will be on a different floor in the hospital by this evening. The neurologists will be performing a lot more tests, and so far no one's said anything about discharging us so I'm guessing we'll be here a few more days.
In summation: Marie is good, she gets to have some baby food today (she hasn't the last two days). She's napping well and playing and generally doing pretty well with everything.
Luke and I are a little tired, a little overwhelmed, but we're coping. We're lucky to have each other.
Josie is with her Grandma Judy in Greeley and Judy's been bringing her down to be with us during the day. Josie is doing good, I think she's a little confused by all this and she's missing mom and dad at night. She's a tough cookie though. She wants to see her sister better and understands that this is necessary. To be honest, I'm worried more about Jo than Marie right now just because shes not with me all the time. Rest assured that the separation is harder on her Mama than her. Grandma Judy's been giving her chocolate, watching movies, and taking wonderful care of her. I just am not used to not being with Jo all the time.
I'll keep posting updates here rather than emailing so check back often. Love to you all and thank you so much for your prayers. We are blessed to have such wonderful friends and family. We also have a laptop here, so if you want you can always get me by email.

Things Josie said that made me smile this week...

"Lets stop and think about this" I told her it was bath time, apparently she was prepared to negotiate.

"Its a long long drive to my Grandma's house" heard repeatedly every time we get in the car, despite the fact that we have not been nor are we planning to go to Grandma's house.

"Marie smells, she smells a lot".

"Why do you nurse Marie ALL the time?"

And last night, totally made my day: "Thanks Mom for the food you made us". Schlachter sausage & mac-n-cheese makes everybody happy.

Marie

This is a pretty recent video, I took this Wednesday morning. She's really getting big, she loves being on her tummy. I think we'll have a crawler soon, she's almost better at rolling/scooting on the floor than she is sitting!

Josie the photographer....

Josie had the camera the other day and had a ton of fun taking some "shots". It's sort of fun to see the world from her viewpoint.







Ready for her closeup....



Silly face...

Video of Marie from end of August

Bigger and bigger....

Our girls are getting bigger and bigger all the time. It's amazing how fast the time goes! Some fun phrases heard this week from Josie: I need a popcicle to warm me up. Upon seeing a picture of a skeleton "That person has no skin, I have skin. I have lots and lots of healthy skin". "My tummy tells me that it's time for lunch".


She's starting to get the hang of sitting up, still not there but getting closer!








This is like one of those hidden image pictures, can you find the baby?









She's posing... still cute though.









Marie is getting better at scooting in her walker all the time. She get's very proud of herself!









"Look Mom, I'm doing it!!!!"

Messy!

Do you think she likes it?

More pics

Josie on the merry-go-round at Chase County Fair. She had a blast, lots of rides and way to much cotton candy. She's into this goofy smile phase too, hence that oddball smile in the pic :)





Playing together...










Josie hamming it up and modeling a bracelet my sister Marika made for her.








Marie sporting her bracelet... and her CSU t-shirt. Sadly, they let us down yesterday loosing to the dirty hippies down in Boulder...









Hanging out (one of the few photos where I actually caught Marie smiling).

August pics....

Saturday morning cartoons...










Marie's first taste of "real" food. She has been eating cereal (rice or oatmeal) for awhile, so we stepped it up and added some baby food. She's doing great. First she tried squash, since then we've done sweet potatos, peaches, green beans, carrots, pears, and applesauce.



A diva...










One day, just for fun, Josie and I made a princess cake. It was a chocolate chip cake with purple frosting, pink and purple sprinkles and chocolate chips. It was so sweet it made you sick, but, it looked good and we had fun making it!






Josie "reads" to Marie a lot. This is a pretty common occurance, although sometimes Marie grabs the pages and Josie gets mad.