My mother took me into the doctors office as an infant and said, “My daughter tastes salty when I kiss her for-head. Somethings wrong.” My mom told me the doctor laughed; and told her, “If she had Cystic Fibrosis she’d be dying. She’s not.”
Truth be told I was not the most healthy child; I had chronic ear and sinus infections. I was eventually diagnosed at 8 years old with chronic bronchitis and asthma. As I grew I developed “idiopathic pancreatitis”; idiopathic, I guess, because they had no clue what the problem was. At 16 I had my gallbladder removed, and at that point was referred to a neurologist. I had poor balance and muscle spasms, later it was found that the cause was two different mitochondrial mutations (G15995A and A8326G). In the process of discovering those mutations I begged my doctor to help me with my cough which was always present. A few tests later they said the reason was Cystic Fibrosis ( Delta F508 and R347P). I was 21.
My advice to parents who believe their child has been misdiagnosed is, get a second opinion. If you feel strongly about it, you should step up and push. Push until they find out what is really wrong. I research my daughters symptoms on-line when she is sick, mainly because I like to know what we may be dealing with. There are so many ways to look up the symptoms on line but please remember that nothing takes the place of a doctor. For every doctor who gets it wrong; there is one out there who will get it right.
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