Monday, April 21, 2008

Marie's Story

Marie Isabel was born March 3, 2007. She arrived right on time, on her due date and her arrival was much hoped for by her mother, father and sister.
Marie kicked so hard in utero that everyone was certain she was a boy, everyone but big sister Josie who knew with no uncertainty that she was going to have a sister.
Weighing it at 7lbs 15 ounces and 20.25 inches tall we brought home our dark haired girl and settled into a deliriously happy existence.
All went well, Marie developed normally until 5 and half months. At this time she started showing an intentional tremor, most noticeable when eating, playing or crying. We met with the neurologists on October 16, 2007 at The Children's Hospital in Aurora, Colorado. We were admitted to the hospital that day through emergency and in the days that followed we were mis-diagnosed with a form of cancer. A CAT scan didn't show the tumor that they believed was there and from there we met with the metabolic doctors. Marie's MRI showed lesions in her brain and they gave Marie the diagnosis of Leigh's Disease, on of many Mitochondrial Disorders.
In December, 2007 genetic testing found the mutation in Marie's Mitochondrial DNA. Almost 100% of the cells in her blood are affected in Complex I of the cell's respiratory chain, this means that they cannot produce energy efficiently enough to sustain her. Marie suffers from a severe energy deficiency.
The tremor has vanished now, but Marie is troubled by severe reflux (or vomiting). They tell us she suffers from a "failure to thrive". Marie no-longer takes a pacifier, she struggles to suck hard enough to keep it in her mouth. Her head control is poor, and she doesn't stand often. Many nights, Marie does not sleep well, though Mommy and Daddy try to keep her comfortable in between them. She has periods of pain, as of yet unexplained.
Despite all of this every day with her is a blessing, she can laugh, she can smile, she can play. On good days she can roll over. We try so hard to focus on the good, and take the best care we can of the blessing we have been given.
Update March 2008. Marie is no longer vocal, rarely makes eye contact. Emotions are hard to read, we think she still smiles sometimes. She has seizures and we're trying out the drug Keppra to control them. She is tube fed, but still nurses like a rock star. She sleeps in the middle with Mommy and Daddy every night. She is soooooo LOVED!

Update, September 2008: EEG has proven Marie DOES NOT have seizures, she has a movement disorder called Dystonia caused by the damage to her brain from Leigh's. She is now completely free from seizure medication and much more alert. She coo's, she smiles, she plays. She is such a joy! How blessed are we?!
Update April, 2009: Marie is proof that God answers prayers. She smiles, talks, plays, still eats by mouth, though she did wean herself from nursing in March. She is able to move her head side to side, and with assistance can hold very small things in her hands. She adores her big sister Josie, and has a very special relationship with her Daddy. Diazepam is controlling her movement disorder, Dystonia, nicely and it is no longer an issue. The majority of her nutrition is via g-tube but she does enjoy eating bits by mouth. She is almost 22 lbs at 25 months old! Currently Marie only takes Diazepam and Melatonin regularly. Putting her care in God's hands has been the best medicine for her that we've found and He has blessed us.

Update September 17, 2009:
On August 28, 2009 God called Marie home to be with Him after the most beautiful summer together.  She fell asleep the night before safe in bed beside Daddy while I was at the hospital with her new little sister who had arrived that day.  Sometime in the early morning hours God called to her and she flew, waking in Jesus arms.  She is healed, Praise God, and she is running, dancing, singing and laughing in the fields of Heaven.  We are struggling daily to get by without our joyful girl.  It is hard to be without her but we rejoice anticipating our reunion with her when our work here is done.  Big sister Josie misses her sister badly, and little sister Sarah will learn about her through pictures and stories.  We were blessed with the time we had, we know that no matter how long we could have had her it wouldn't have been enough.  Our special angel, beautiful girl, Little Mama, perfect princess, we miss you and we love you.



rebecca said...

I clicked to your blog from your comment in MckMama's Community. You have a beautiful sweet spirit in your writing and your faith in God is so encouraging. Hi!

Anonymous said...

Shannon, It's Angela from NJC. Cari told me about your daughters. This blog is amazing. Your faith and strength is amazing. My heart goes out to you and your family. God Bless your Angel Marie, God bless Josie & new baby Sarah and God Bless Mommy and Daddy!

signingcharity said...

I clicked to your blog from ourspecialneedslife. I remember my friend telling me your little girl had gone home to be with Jesus. I pray for your comfort as I pray for theirs.

Jen said...

oh I am just in tears.. I am sorry for your loss..your faith is amazing.. how bittersweet to lose one daughter and gain another..your daughters are beautiful.. all 3 of them..