In early March, Judge Johnson put Justina Pelletier's medical care back with Dr. Korman/Tufts

[pnwmom]

141. You're wrong about the tests. There is NO definitive test for all mitochondrial disorders.

Mitochondrial disorder affects people differently, even among family members who share the same genes. There isn't a one-size-fits-all treatment or a simple diagnostic test.

It is possible to have a muscle biopsy done -- but it means putting a child through a surgery even though a negative muscle biopsy does NOT rule out a mitochondrial disorder. That's why it's often not worth it to put a patient through it, if the symptoms fit the pattern (and in Justina's case, she had a sister with a positive biopsy -- another thing that confirmed Justina's clinical symptoms - these things often run in families). Instead, a patient is treated for the particular problems he/she has in the various organ systems, along with dietary supplements to help with the overall mitochondrial disorder. If the patient improves, then the clinical diagnosis is confirmed. It would be nice if there was a simple test for everything, but having to make a clinical diagnosis is more common than you might think. It's not just mitochondrial disorders that are diagnosed this way.

This "guy," Dr. Korson, is a specialist in metabolic disorders such as mitochondrial diseases. It was inexcusable that Children's hospital didn't confer with him from the very beginning. Here it is a year later, and he's finally had a chance to testify to the judge. Why did Children's keep him on the outside till now?

http://my.clevelandclinic.org/disorders/mitochondrial_disease/hic_myths_and_facts_about_mitochondrial_diseases.aspx

Myth:
A muscle biopsy is the "gold standard" for diagnosis of mitochondrial disease.

Fact:

Although the muscle biopsy is a powerful diagnostic tool, it should not be considered a "gold standard." Examination of a biopsy includes microscopic evaluation, enzyme testing, and genetic testing. Although all U.S. labs that offer muscle biopsy meet strict laboratory guidelines, there is no agreed-upon standard approach for enzyme testing. Furthermore, a muscle biopsy with full analysis costs well over $10,000 and poses both surgical and anesthetic risks. In some patients, the diagnosis can be made based on clinical symptoms and a positive blood test (identifying a genetic mutation) or a combination of clinical findings and other non-invasive testing -- in either case, a muscle biopsy is not necessary. Finally, since biopsy results usually do not alter the long-term outcome or treatment considerations, some specialists and patients choose to treat without the need for a muscle biopsy.