ChandlersMom's Journal

Chandler Hope Hurley was born full term at 4 pound 10 ounces. Right from the start she had issues with feedings and failed to put on weight. She was hospitalized twice within a month of her coming home for life threatening events that caused her to stop breathing and turn the most horrible shade of gray/blue I had ever seen. I guess that is when we first realized something more was going on. She is now 15 months old and weighs 15 pounds 5 ounces. I should have been keeping a diary as the last year is a complete blur! I guess I can just tell you that after seeing many specialists, apnea monitors, EEGs, CAT Scans, MRIs, a G tube and a muscle biopsy she has finally finally been diagnosed with Mitochondrial Disease. We are actually going back to the Geneticist tomorrow for more testing to hopefully determine what type.

Chandler is so beautiful and happy. She looks like a perfectly healthy 6 month old! She has not yet hit the charts for height and weight but she is making progress. She actually started crawling last month! She goes to physical and occupational therapy twice a week and just started seeing a speech therapist (she lost the ability to suck a bottle/sippy once the feeding tube was placed). We are not sure what the future will hold for her but we are determined to learn everything we can about this disease but live in the moment and not focus on the what ifs!

Well...yesterday was the appointment with the Geneticist. He is sending out her last piece of muscle for more testing to determine the exact type of disorder. He did say that the results show a deficiency in both the Complex I and Complex IV which he thought was strange. He ordered more bloodwork to screen her liver and referred us to a Pediatric Cardiologist. We also got the script for L-Carnitine and CoEnzyme Q10. It is just very frustrating becasue as a parent you want to fight this, you want to be able to do something! As for now, we are just treating her symptoms with tube feeds and therapy.