A new blood test for serum fibroblast growth factor 21 is claiming to accurately diagnose Mitochondrial Disease in 70 percent tested!
Hands down that would be more accurate then any MRI of the brain, any genetic testing, any metabolic testing, any muscle biopsy. No more guess work or one Specialist thinking you have Mito but the next disagreeing. Families could hunt for the real disease causing the damage, or know for certain it really is mitochondrial disease. This is simply fabulous! I wonder if it could confirm our hunch that Abby's depletion is just a symptom or secondary and not Primary? Sign us up! Sooner we can dump that diagnosis the lighter my heart will be.
All of the patients who are at "suspected" or are just clinically diagnosed could take this test and know for sure what they are dealing with.. that is, if it is as amazing as it sounds!
Breakthrough in hunt to diagnose mitochondrial disease
November 20, 2013
Health Editor, Sydney Morning Herald
Long search: After suffering from strange symptoms for years, Julie Egan has been diagnosed with mitochondrial disease. Photo: Tamara Dean
Julie Egan cannot walk more than 10 steps before feeling like she might collapse with exhaustion. The 52-year-old has had countless operations on her legs, and takes at least 21 tablets a day.
But she is happy. Because for the first time in her life she understands what mysterious condition has been causing her to suffer everything from muscle weakness to stomach problems for as long as she can remember.
Three years ago, doctors finally discovered she had mitochondrial disease. ''When you know there is a reason for the things that are happening to you, you find a way to deal with them and you can move on,'' she said.
Mitochondria are tiny parts inside every cell that are vital to our survival; they allow our bodies to convert food into energy as well as helping cells stay healthy.
When they stop working, they can cause anything from mild deafness to seizures or muscle fatigue, said the head of neurology and director of neurogenetics at Royal North Shore Hospital, Carolyn Sue.
''Mitochondrial disease can basically masquerade as almost anything,'' she said. ''Our mitochondria can also stop working properly for a number of different reasons, from mutations in its DNA, which is separate from the rest of our DNA, or from other genetic disorders that can impact on its function.''
Because of this, Ms Egan's experience of countless tests and painful muscle biopsies is common. But new research undertaken by Professor Sue, and published on Tuesday in the journal Neurology, could change that.
She has discovered a simple blood test can be used to diagnose the disease in about 70 per cent of cases. ''This is a huge step forward,'' she said.
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