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