Tuesday, June 5, 2012

Stronger Every Day

Our little Pip is growing stronger every day! She is crawling now, and will even sometimes pull herself up on her knees to play with her sisters and brothers. She just doesnt want to miss a beat!! We plan on taking her to her first ocean trip this coming weekend. I cant wait!!! ''

Sarah is turing into such a little princess, her daddys little girl! She's into following him around saying, "I wuv you daddy", "I wuv you daddy"!!! What a stinker!

Aaron is in the whoa-theres-the-twos-we-were-warned-about stage! Everything to him is now a resounding, "NO!"

Monday, April 23, 2012

Little Man, Big Plans

Jake. He is so the man! He's constantly bringing humor to the house without missing a beat. Even if things are less than happy here, he finds a way to make us laugh. Jake- you are awesome!!!

Tuesday, April 10, 2012

Holland, here we come!

Another mom shared a poem with me during one of Aaron's 'vacations' at Hopkins, its called Welcome to Holland by Emily Perl Kingsley. Rob and I had forgotten it long ago as Holland has become a distant memory to us. Aaron's health is wonderful, and despite his occasional desats, and tachyapnea he is a normal little guy.

c1987 by Emily Perl Kingsley. All rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Our little Charlotte Faith has reminded us that Holland is still on our itinerary.

For the past week or so Rob and I have read the report over and over. Hoping that it would change, maybe we missed something in reading it? Maybe her lab work was mixed up with another child, maybe somewhere along the line there was an error of some sort? However, we do realize that there are no mistakes. None in the lab work, the reports, no errors. There are no mistakes...she is perfect, and we are so very blessed to share every day with her.

Charlotte has something called an Inborn Error of Metabolism. Her body doesn't process cobalamin (vitamin B12) like it should. Because her body doesn't process cobalamin like it should, an organic acid called methylmelonic acid builds up and can cause damage. The genetics, neurogenetics and neurologist all agree at this point that she has an Inborn Error of Cobalamin Metabolism, but we will need to wait on further lab work to determine what type exactly it may be. They believe hers to be type cblC, cblD, cblF or TC2. What type it is will dictate the course of treatment, but more than likely it will be a combination of watching her closely, supplementing certian medications, and dietary changes consisting of low protien, and high carbohydrates.

We've been told that some of the complications are developmental delay, mental retardation, vision problems, stroke, and multi-system organ failure to name a few. Well, we were also told our Aaron would remain on his g-tube for at least 5 years...guess who just fought me for Easter candy tonight? You got it...my Aaron...the one WITHOUT the g-tube!! (I'm not against feeding tubes, for any tubie parents that may be reading. They are lifesaving But I am thrilled our doctors were wrong in stating he would need one for the long term) We are going to remain positive, and expect a good report on our next follow up on Thursday.

Sunday, April 1, 2012

We're on our way...

So tomorrow is going to be a busy day for our little bippy. We have a 'date' at Hopkins from 10am to 3pm...hoping to get some answers from the neurologist as to why bippy is having tremors and not developing as she should.

We did get a preliminary diagnosis from genetics: Inborn Error of Cobalamin Metabolism and Mitochondrial Disease. Still waiting on the SNP to comeback and hopefully that will tell us more.

Tuesday, March 20, 2012

A proud Mama...

This past weekend Grace competed in a tournament in Pennsylvania. She did an outstanding job! We are all so very proud of her, not just for how well she did, but for how much effort she put into doing her very very best. Way to go kiddo!!!

We sadly had to put our beloved fur baby to sleep this week. Belle was an angel with fur, but was beginning to suffer from the effects of old age. It was getting to the point that it was the best choice to let her go into our heavenly fathers arms. I'm sure she'll keep the welcome mat of heaven toasty warm until we get there to meet her again.

And we spoke with the Genetic advisor today... a whole lot of nothing to tell. Chars lab work was askew again, but we still don't know why. The good news is that the metabolic errors they tested for were all negative. Her methylmelonic acid however, is still too high. The first lab showed her at 58, and this last test had her at 429. Obviously not such a great number as the normal is under 6 for her age group. We are still waiting on the chromosome testing to come back. We see neuro for another CT scan and an EEG in a few weeks. Until then we wait.

Wednesday, March 7, 2012

Longest week ever!

This week is dragging.... I need some answers with my baby girl. Its really weighing heavy on Rob and I both. We can see there is something going on just by looking at her, she has no muscle tone, in addition to other things. She is ours, we love her no matter what, but something isn't right. We put a "full size spare" on her head to make her giggle...well, she didn't, but we did!

Friday, February 24, 2012

And the race is on!

This week has been a whirlwind of activity here in the Luce house. Grace had her honor role breakfast on Wednesday morning. Which was a lot of fun by the way! I cant being to tell you how proud I am of my sweet baby girl, shes amazing. Aaliyah got her ears pierced this week which really made her happy.Shes wanted them done for quite some time, so finally we let her. Jake turned seven this week! Where on earth has the time gone?

Our sweet Charlie is doing good too. We found out that she loves ice cream! She sat on Daddy lap and ate almost an entire ice cream sandwich herself!! She has and appointment with physical and occupational therapy on March 1st and we will start therapy soon after that I hope. Hopkins is able to get her in with genetics on March 12th so we are hopeful that appointment will yield some concrete answers.