Thursday, August 16, 2012

Mitochondrial disorders


After looking up more information on Mitochondrial disorders, I think I have a slightly better understanding what they are and why this is suspected with our youngest. The information is pulled from the United Mitochondrial Disease Foundation page designed for teachers.

Mitochondrial disorders are notorious for not following a set pattern. It is not uncommon for patients to be misdiagnosed with another disorder. Symptoms can begin at any age. Depending on which cells are affected, symptoms may include: loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays, autism, and susceptibility to infection.

When looking at the main issues we have dealt with Ellie over nearly 7-yrs now she has had the following symptoms: right-sided muscle weakness, gastro-intestinal disorders and swallowing difficulties, poor growth, respiratory complications, and susceptibility to infection.

Knowing they are suspecting a mito and possibly metabolic issue with her does make sense when looking at her long list of combined medical diagnoses. Her known and confirmed major medical diagnoses are: bronchial malacia, laryngeal cleft, GERD, FTT, severe protein allergies  causing autonomic shutdown, sensory integration dysfunction, chronic lung disease, asthma, aspiration issues, 100% g-tube fed (placed at 5 months), GI and bowel motility issues and bowel ileus.

When looking at these issues with the Mito symptoms, which go with which?

Gastro-Intestinal Disorders and Swallowing Difficulties: bronchial malacia, laryngeal cleft, Gastroesophageal Reflux Disease or GERD, severe protein allergies  causing autonomic shutdown, chronic aspiration, 100% g-tube fed (placed at 5 months), GI and bowel motility issues and bowel ileus

Muscle Weakness: well her low tone in her upper and lower right side of her body

Poor Growth: Failure to Thrive or FTT,

Respiratory Complications: chronic lung disease, asthma,

Susceptibility to Infection: She is susceptible to nearly bug, cough, cold she is exposed to

Clearly if the Mitochondrial disorder comes back positive, this would explain most of her symptoms since birth, especially all the feeding and growing issues we have had with her. Breaking down her symptom list like this, clearly her primary affected areas are the gastro-intestinal and swallowing disorders. She has struggled since birth with these issues.

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