Day to day

I just wanted to update everyone on how we're doing now since I haven't done that for awhile.

Things have found a groove of sorts I suppose. We have good days and bad, still trying to make the best of things. I've spent some time getting Marie set up with Easter Colorado Services. They're a government run program and basically they will help us with physical therapy, counselling, support etc. since we're so rural out here. It's funded by the Individuals with Disabilities Education Act which guarantees supports and services for children under three years of age which meet it's requirements. This is good, since I cannot find a good pediatric physical therapist out here. They have resources, they know where to find these people. I am happy, I need that help. Unfortunately, this has come with the realization that while I see Marie as a perfect, beautiful girl, the government and probably a large portion of the people we do not know see her as handicapped or disabled. This thought has been difficult to wrap my mind around.

Marie has been better with the vomiting, not every day anymore at least. She seems to have put on a few ounces, I hold my breath, I don't want to get my hopes up. Our appointment with the GI doctors is on January 16. She still smiles a lot, she's happy, and so easy going. She still sleeps in bed with us, but the upside to that is every morning I am greeted by her smile when I wake up. The downside is that she kicks.

We have had several alarming periods where she cries inconsolably. She gets stiff, arches back, throws her head back and screams. Her eyes are clamped shut and she breaks out into a sweat. It is horrible. All we can do is walk her and rock her and reassure her that we're right there. Often, when she calms again she will vomit... it sucks. We are really concerned by this and I've left message at the metabolic clinic with our "case worker" to see what can be done about this. It really seems as though there is pain with these episodes and I am worried about finding a way to help her. She seems to be a little weaker too, it's hard to hold her head up, and she struggles to sit while assisted without reclining. Still, she smiles, so to hell with the rest.

Josie is amazing. She is my sunshine. She really keeps us busy, and up, and doesn't allow for time to feel sorry for ourselves. She is also already looking forward to her birthday. I cannot believe my baby will be 4... her favorite things at the moment are princesses, reggae music, drawing, singing (there is forever a song being sung at our house)...

I think I forgot to post also, Marie got her 1st RSV shot on December 19. She will get one a month now until April. Insurance tells me as long as there is a medical necessity, they will cover the shot. We're praying for that...

Also, thank you to everyone who has put Marie on their prayer lists. I think she is on more than I realize... when I get down, this brings me a lot of comfort. That and I wrap her in that wonderful quilt from Aunt Peggy... I know that Marie has touched a lot of lives... much love- Shan

HEAVEN'S SPECIAL CHILD

HEAVEN'S SPECIAL CHILD
Author presently unknown

A meeting was held quite far from earth,
It’s time again for another birth.
Said the angels to the Lord above;
This special child will need much love

Her progress may be very slow,
Accomplishments she may not show.
And she’ll require extra care,
From the folks she meets down there,

She may not run or laugh or play,
Her thoughts may seem quite far away.
In many ways she won’t adapt, and she’ll
Be known as handicapped.

So let’s be careful where she's sent, we want
Her life to be content.
Please, Lord, find the good friends who, will
Do a special job for you.

They will not realize it right away, the leading
Role they’re asked to play.
But with this child sent from above, comes
Stronger faith and richer love.

And soon they will know the privileges given,
In caring for their gift from Heaven.
Their precious charge, so meek and mild, in
Heaven’s very special child.

Christmas

Christmas at our house was wonderful. Luke and I hosted Christmas Eve with his Dad and Grandparents and then we had Christmas Eve night following church all to ourselves. We videoed the whole thing, and took a lot of pictures. Once again, I have software issues and can't seem to post anything to the blog so as soon as I figure that out I'll be putting up a ton of pics.

Josie was really excited this year (finally!). She got two new Barbies (thank you to Laura for the barbie and clothes, you are wonderful, we love you). Jo also got a tea set, candy land game, several princess games, Bella Dancerella (a DVD, mat and wand that all comes together to be this ballet princess thing). She was really spoiled and has been playing non-stop.

Marie got a wonderful baby doll, a new ball, a soccer goal complete with ball (she's batting it around like crazy, hooray for toys that encourage her to work those little muscles). She also got a castle book, and a lot of other things.

I cooked my first turkey Christmas day and it actually turned out, it was a lot of work though.... it will probably take me a year to get up the nerve to do that again.

Marie had three wonderful days, from Sunday-Wednesday, but this afternoon was a rough one. She didn't nap well and this evening she had some inconsolable crying and then she vomited. No interest in food either. Her cries seem to Luke and I to indicate pain, so we're documenting everything to bring to the GI docs on the 16th. It's hard to not be able to do anything to comfort her during these tough spells, I cried a lot this evening.

All in all though, the last week has been a good one. We're really thankful that Christmas could be that way. Thank you to everyone who's supported us during the last month, and to everyone who spoiled our girls... like I said, I'll put pics up as soon as I can!

Side note

I don't want to detract from my Thank You posted below but I wanted to let you know I'm having a hard time with my photos software. I wanted to let you know this because I know some family is really looking forward to seeing my videos of Josie's Christmas pageant, but I have software issues and can't post them. As soon as I figure this out I promise I'll put them up. Grrrr, Microsoft... MERRY CHRISTMAS!!! Much love, Shan

Thank You

This week Luke and I received a really wonderful gift from our church family, and others. We just wanted to once again say thank you. The last months have been a challenge, but we were reminded that we are not going through this alone. Sometimes in the day to day it's easy to get wrapped up in our own little world, but this gift was an amazing reminder that everyone is affected by this, and so many people care about Marie and our family. We were so touched, thank you from the bottom of our hearts.

Luke, Shannon, Josie, and Marie

Blog Link

It has come to my attention that there are a lot more people reading this blog than I was ever aware of. Thank you all for your interest in our family, but I ask that you keep in mind that this site is very personal as well. I ask that you all please respect the content, as it was initially created to share only with friends and family. I ask that if you feel the need to share the blog link you take that into consideration. I feel in that creating this blog I invite you into our home, I ask that you not invite strangers into our home as well.

Thank you all for your thoughts and prayers, we appreciate it so much!
Luke, Shannon, Josie, and Marie

9 month check up

Just wanted to update everyone. Wednesday Marie had her 9 month check up. The weight we got at Children's must have been off because she weighed in at 16lbs 6 ounces. This is a releif, she's not as far behind as we thought. She's 27.25" long, so about 40% for height, 10% for weight.

She got the pneumovax vaccine which will guard agaist a type of bacteria found to cause ear infections. We also got everything together to begin giving her the RSV shots. This will protect against upper respiratory viruses, and while it's wildly expensive we feel that it's comepletely worth it. She'll get the first on Monday (I think).

Other than that we're just hanging out. My brother Mickey is here for the weekend, and Josie's X-mas program is Sunday. Much love- I hope that you are all feeling some of the positive feelings that I am today. Shan

Good News...

Hello all. I just wanted to share a bit of good news with all of you. We got some results back and Marie's white cell count, muscle health, and thryroid groups, are all NORMAL! So, this is good news. Though things seem bleak she is stable, and she is happy. Really, that's enough for now isn't it? Hope everyone is enjoying the snow, we are here. Jo is loving it, and her Papa got her a new sled so she's been a snowbunny. Enjoy the few photos I've posted, I have a lot more on the camera. We've been taking lots and lots of photos lately.


Been farming long?
























See, I knew I could do it "wink, wink"!






























Silly faces....

Results

I'm sure you're all holding your breath, so here at long last are our results.

The testing they did confirmed the diagnosis of Leigh's Disease, or as the metabolic Dr put it, a severe energy deficiency. Marie has a genetic mutation at 14459 (a location in her mitochondrial DNA). This affects Complex 1, a step in the process in the breakdown of glucose (food energy) to it's end product pure energy, or ATP. Complex 1 is one of the final steps in the cycle. This mutation is also present in nearly 100% of her cells in her blood. We knew there was no cure for Mitochondrial Disease, but this also means there are very few treatments.

We will begin giving her riboflavin again, the vitamin in large doses may help her cell function. We will also begin giving CoQ10 (I think it's an enzyme) that also may help to improve cell function. Neither of these will "cure" her, they just may help to slow the progression. We also will continue physical therapy, and we will begin monitoring her organs namely the brain, eyes, heart, liver and kidneys. These organs use the largest amount of energy and therefore as the disease progresses they are the most likely be affected. They can't say which will be affected or when, but through monitoring we'll have an idea and be better able to treat that as it comes up.

Basically, all we can do is make every day for Marie as wonderful as we can, and to enjoy our time with her as much as possible. The Dr's can't really say how long she has, only time will tell.

The major concern at the moment is her vomiting. She's lost a lot of weight, currently weighing in at 15lbs 9 oz, down from 16lbs 2 months ago. We have an "urgent referral" to meet with a gastroenterologist to determine what we can do to possibly curb the vomiting, and what we may need to do to help her gain weight again. The metabolic Dr's basically said Marie is suffering from a "failure to thrive".

So, sadly, I have no good news to post. We've explained to Josie what we can. She knows Marie's body is different and she may never do the things Josie can (crawl, walk) etc. She knows that God will probably call Marie home early.

Luke and I are doing okay. We broke down last night after the girls were asleep. It's really going to be day-to-day. Thank you all so much for the words of support and the thoughts and prayers that I know have been with us. We have needed that, and will continue to need that support so much. I know that Luke and I have been blessed with a very special child... We're still having a hard time talking about all of this. It was hard to type.

We will have to proceed with caution, we have to try to keep Marie from getting sick. It may set her back, and she most likely won't regain afterwards. The worry is that if she gets ill she doesn't have the energy to fight it so it will last longer and be worse for her. She may loose developmental skills that she's achieved. We're praying that she doesn't loose any cognitive abilities.

Once again, we'll need those who are sick to refrain from visiting, you'll have to wash your hands before you can hold her. Otherwise, please come and visit often! She's so special to us, but I know that she means so much to all of you as well.

I've got to run now... we're trying to be as "normal" as we can for Josie... thank you all for everything. Much love- Shan

Ears...

So, I'm finally grabbing a few minuets to update everyone on Jo's Ear/Nose/Throat appointment on Friday. First she had a hearing test, and her hearing is PERFECT!!! Hooray for that, but not a surprise really, everything about Josie is perfect;)

We then met with her Doctor who checker her ears under the microscope. Apparently the left tube is just fine, but there is scar tissue forming around the right tube (the one she always gets ear infections in). The scar tissue is catching all the nasty stuff, then getting infected. He said that after 2 and a half years her body is just reacting to the tube as a foreign body (tubes are only supposed to go a year to a year and a half then they normally fall out on their own). He gave us a new antibiotic to try, a drop called Cyphrodex (sp?). We will go back for a recheck on January 11 and if the drops cleared up the infection we will talk about scheduling surgery to remove her tubes and her adenoids (he believes they may be contributing to the problem). If the drops don't work and she still has an ear infection we will definitely schedule surgery to get the tubes out. Not ideal, but at least we know whats up now.

Marie did great on Friday going to Fort Collins. She was pretty happy all day and didn't get sick at all:) We got to have lunch with my dear friend Britt and we all really enjoyed that. We also swung by Grandma Judy's work and got to see where she spends her days (thanks for the tree, it's perfect!!!).

Saturday was another good day for Marie, we actually were able to pretend that we were "normal" for a little while. She was happy, and pretty strong for most of the day.

Sunday was not so good. After three days of not vomiting she spend the afternoon throwing up. The only thing she absorbed yesterday was breast milk, no interest in food of any sort (other than gnawing on those big hard pretzel sticks). I felt bad for her, she heaved really hard and all I can do is rock her when I know it hurts so bad. The appointment is Thursday and to say Luke and I are on edge is probably a bit of an understatement. We are so relieved to finally get some answers but terrified of what we may hear. I have my list of questions, namely what can we do to put some weight on her. I see now where she's getting thinner, the only real chub she has left is a bit of a double chin. That would at the moment be our largest concern.

I've been reading on Carepages.com other families who have children facing Mitochondrial Disease. It is an evil, vicious thing. All of them suffer so much. I don't really know how you could handle this if you didn't have faith. As strange as it sounds, this has strengthened my faith so much. I know that He must be here with me, otherwise I'm not sure I could handle this. I know that He is with Marie. Thank you all so much for your continued prayers, everyone is so wonderful.

Anyway, as you can see I'm a bit of a train wreck this morning so excuse the rambling. I know that you're all holding your breath for results along with us, so I'll update after Thursdays appointment as quickly as I can. Much Love- Shan

This week...

Just to update you all on where we've been the last week. Marie finally had a good day yesterday. She has vomited at least once a day for the last 7 days, but yesterday she managed to keep both lunch and dinner down. She's still nursing primarily, we try to get what baby food we can down her but she's lost a lot of interest.

We had physical therapy this morning. The therapist is concerned about her legs, she wants us to ask about splints at our Dec 6 appointment. Marie's feet are turning in more severely than before, and she's worried about stress on the joints.

Marie is still happy, but there seem to be days now where she just doesn't feel well. Her slouchy-ness is becoming more pronounced, and she really is much like a newborn a lot now. When she is tired she looses head control, fists her hands like a newborn, and doesn't move her arms and legs much. She wants to be held almost all the time, and Luke and I give into that a lot. We also have sort of stopped using the high chair, she just doesn't sit well enough to use it. Of course the vomiting is discouraging because it's uncomfortable for her, and also because we're really concerned that she hasn't gained wait in nearly 3 months now. We're going to talk to our family Dr about some sort of food supplement, or if anything can be done to help her to gain.

She's sleeping in our bed every night now too. She nurses almost non-stop throughout the night, and the upside to that is that she's able to get a pretty good meal in. We're also wondering if maybe she has "night terrors" since she wakes screaming a lot, especially if she's not touching Luke or I.

There are some good things though. When she's well rested she's doing well with standing. She also can pull to sitting from a semi-reclined position and she is starting to use her arms to catch herself when she tilts.

Both Josie and Marie are finally over their colds, and Josie's ear infection has cleared up (though we still have the Ear/Nose & Throat appointment on Friday).

Josie had ballet yesterday and is really becoming quite the dancer. She knows so many moves now, and it's a ton of fun to watch her. She's also become a huge helper with Marie (helping her to stay sitting on the bed, helping her hold toys etc).

I'm taking a lot of pictures, though most are still on the camera... I need to get them posted soon.

That's really about all for us here, still doing day to day. We're looking forward to the appointment on the 6th but dreading it at the same time. Our days tend to be sort of a roller coaster, and I'm sure we're not always the best company, but we're still just trying to focus on the good things that happen (which is not to say that we don't get completely discouraged and loose it sometimes, we're just lucky enough that we don't do it at the same time).

Hopefully everyone had a really nice Thanksgiving, we did. Until later, xoxo.

Occupational Therapy and more

Last time I wrote we were meeting with the occupational therapist. We had that meeting, and he showed me some more exercises to work on with Marie. She seems to have a problem with her reflex to catch herself when she starts to tilt. She'll lean, but she doesn't reach out her arm to brace and catch herself. He was concerned about that simply because she could really hurt herself toppling from sitting to the hardwood floor. So, not only are we working on teaching her that reflex (extend arm, open hand, brace) but we have to be really careful with her. He also observed that she tends to leave her hands fisted up like a newborn would, so any exercise that forces her to open her hand fully is good. Plus side, when her hands are open, the work just fine. She can pick up all the tiny things and insert them into her mouth, so I'm still on tiny toy patrol (not that I would have stopped, but man, you'd think eventually I'd have collected them all. We seem to have an endless supply of things small enough to fit through a paper towel roll!)

Head control was discussed, as was posture, because sadly these are two things Marie is really struggling with. So, we'll continue to work on it. The Oc. Ther. says he'll probably just work with our Phys. Ther. rather than coming to see us weekly. I also found out we can get a lot of this through BOCES so I'm going to be calling on that. Our insurance only covers up to so much physical therapy and we'll be needing more than that so it was nice to learn that we can do that (thanks tons Jess for checking into it for us).

Marie, though her body doesn't work right, is still smiling all the time, and a happy happy girl. This is a huge comfort, as the physical things we can easily overcome or make modifications to get by. I'm so glad she's happy, because I am willing to carry her wherever she needs to go.

Josie's ear is getting better (I haven't seen any signs of infection for a few days). We will have to go up to Ft Collins to the Ear/Nose/Throat Doc though on Nov. 30. She'll have a hearing test, and then we'll look at why she continues to have infections. Britt, we should do lunch that day. I'll call you :)

Josie also was assigned a part in the church Christmas pageant this year. She will be Angel Number Three. The program is on December 16, so if you can, it will probably be a kick to see her perform!

Marie has been doing slightly better with vomiting. She made it 4 days without being sick, but got sick last night. I've been noting what she's been eating when, and the times, but am beginning to see a correlation between the severity of her tremors and her vomiting. It seems the worse she is shaking the more prone she is to getting sick. I've noted this and will be bringing it up on the 6th at our appointment.

All in all we're doing okay. We actually had a few days where all felt normal this week. One day Josie and I walked to the park with Marie in the sling, and yesterday we surprised Luke and Papa Steve with Subway while they were working. I just treasure those little moments, and try to create as many of them as we can. As my cousin said, we too have developed an appreciation for how terribly fragile life is. How grateful we have become for every day. We truly have been blessed, not only with Marie and Josie but with the amazing support of everyone in our circle of family and friends. I've been told how strong we are, but it is only because of the support we have that we are able to cope so well. Thanks to each and every one of you. Everyone have a wonderful Thanksgiving, much love- Shan

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.

Josie "ism's" and more....

I haven't written to update on the girls stats much, so I thought I'd steal the time to do that today. This is partly so that I have things written down and when I look back I can remember. Summer is winding up for us here, Luke finished cutting millet yesterday so they'll start picking that up in a few days. I can't believe the summer is nearly over, it really flew by!

Josie is amazing. She really blows me away. Her grasp of things is continually evolving, and she understands things above what I think that she does. She also really thinks about things and it makes for some pretty funny statements from her at times. I have been told recently:

"Don't yell at me or you'll get in trouble with my Daddy." Apparently he is the White Knight. I was not aware of this, but I guess it is so. And here I thought he was the stricter disciplinarian out of the two of us....

"You try being the Josie, it's not easy Mommy!" Told to me when she was in trouble for not listening.

"I'm too tired to take a nap."

"We went to the doctor, and our baby just popped out." *sigh* if only it were actually so easy...

More and more often I also hear the phrase "When I was little..." She is getting so big! She also will watch a toy commercial and say "I wish I could have that" which is new. Before she didn't seem to notice, now she knows that we can go and get things that she sees on TV. Hooray.

Marie is doing great, eating cereal like a champ. She actually was going through 2 4oz feedings a day and nursing before and after so about 2 weeks ago (she was 5.5 months) I started including a little baby food with the cereal just to give her a bit more. She is so hungry all the time I'm having a hard time keeping up! So far, she's done squash, sweet potatoes, green beans, and apple sauce. She hasn't had any of it straight, I've been mixing it with cereal, but so far I haven't seen her having any trouble. She also doesn't seem quite as ravenous now, which is a good thing.

Josie's stats:
Fave toy- Bunny (still)
Fave color- purple (still)
Fave TV show- Dragon Tails
Fave Food- ice cream or German pancake
Fave Song- "Mother" by Danzig (totally blows me away)
Fave Book- Fancy Nancy












Marie's Stats:
Fave toy- whatever is soft and nearby
Fave color- green (because Josie asks me all the time what her favorite color is, so I keep telling her that's what it is)
Fave TV show- n/a
Food- so far she's liked the applesauce best
Fave Song- anything playing. She likes to be danced around with though.
Fave Book- whatever Josie is reading, so, it's probably Fancy Nancy.

Swimming lessons

Josie did swim lessons this summer for the first time. They ran for three weeks, and she loved every day of it! I was sort of hoping that she would make friends with a few little girls through the process, but once again it was Josie and a bunch of boys. Out of the 5 kids in her class she was the only girl! She holds her own though:)