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  • Approved for CNN

  • Click to view Chis6335's profile
    Posted January 26, 2014 by
    Chis6335
    Location
    Fort Wayne, Indiana
    Assignment
    Assignment
    This iReport is part of an assignment:
    Living with a rare disease?

    Rare disease, 16 year old boy

     

    CNN PRODUCER NOTE     Chis6335 says her son Sam never uses his disease as an excuse. "He has spoken with groups of all sizes, spreading the message about mito, including the need for quicker diagnosis, the need for treatment and the hope for a cure. He is just an amazing young man!"
    - JacqueCNN, CNN iReport producer

    Within a day or two of my son's birthday, my husband and I knew that something was not right. He was not nursing well, had a very weak cry, was very floppy. We then started a 3 year, multi-hospital, mutli-medical test journey to find out what was happening to our son. We were told that he would not walk, nor talk, nor live to see his second birthday. After years of tests, years of blood draws, 2 muscle biopsies, when he was 3.5 years old, we received a call from a genetic counselor telling us that the doctors now knew what my son's medical condition was. Through a live muscle biopsy, he was diagnosed with mitochondrial myopathy, complex II and complex II-III combined. He has had multiple surgeries and many hosptializations. His main symptoms include sleep apnea (he has used a BiPAP since we was 6 months old), asthma, low muscle tone, dysphagia and food senstivity (has had a feeding tube since his second month of life), and lowered immunity. However, he has exceeded all expectations. He is a sophomore at a private college prep high school. He walks. He talks.He runs and jumps too! He is active on the school speech team and architecture club. He has been our state Goodwill Ambassador for MDA. He takes meds several times per day. Has been in physical, occupational and speech therapies off and on his entire life. Though he struggles at times, he is a fiercely independent, amazing young man!

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