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Marie passed away at home on August 28, 2009.
To read her complete story and our families continued story please visit: http://josieandme.blogspot.com/.
Marie has Leigh's Disease, Leigh's Disease does not have her!
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 existance.
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 Childrens 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 paci, 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 rockstar. 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.
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