Sunday, December 9, 2007

Primary Mitochondrial Disease

Ana's official diagnosis is Primary Mitochondrial Disease. This means she is missing some parts in Complex 1, or the parts are not working. They confirmed that she does not have a disease that is destroying her mitochondria, the mitochondria themselves are messed up. Prognosis... usually severe disabilities and early death. How long does Ana have? No one can answer that... some kids shut down quickly... some shut down slowly. The doctor said we may or may not see any changes with the medications. She said that children with effected GI tracks can have trouble metabolizing the medications in which case they take them off of them. She is now on a total daily dose of 600mg Keppra, 800mg CoQ10, 4mg Pariactin, and 500mg L-Carnitine.
Ana's speech and physical therapy evaluations went well. The speech therapist is going to speak with Ana's doctors and decide if Ana should learn sign language or if she should be taught how to use a computer which would talk for her. (Yes, children with Complex 1 Defect can go deaf and can have severe hypotonia that affects their ability to cummunicate.) As far as physical therapy, she is losing muscle tone in several areas. The pt says the ortho dr may decide on braces or some other means of support for her bones that her muscles can't provide. The pt also aggreed that she probably needs some sort of special needs stroller.
Things are slowly starting to sink in. The hardest part is watching Ana decline. Her new complaint is that her legs are asleep... this along with her needing her TV all the way up to hear, are signs of more neurological issues.

Please include Ana in your prayers:
  • Pray for Ana as she goes to the audiologist and also pray for the audiologist.
  • Pray for her upcoming appointment with the cardiologost and the echocardiogram.
  • Pray that the Lord will help her tolerate her medication.
  • Pray for Monday's consultation with the orthopedic specialist.
  • Pray for Wednesday's appointment with the pulmonologist.
  • Pray that her sleep study next week goes smoothly.
  • Pray for her upcoming brain & spine MRI.
  • Pray for comfort & peace.

1 comment:

  1. I am Jaden's aunt. I used to go to CBC but am now in Hawaii. I would like to help you research treatment options for Ana Maria. I come across a lot of things while researching stuff for Jaden. I think of you often and lift your sweet girl in prayer to our Lord. Get my email from Tobi if you would allow me to help. With Christ's Love, Amy Ausbrooks