What is Leigh's?

What is Leigh's Syndrone? Our Journey Home blog explains it so well: Imagine a major city with half it’s power plant shut down, at best this would cause a major black out. Now imagine your body working only to one half, the brain is impaired, vision is dim, muscles twitch and you are weak and your muscles are too fatigued to walk, crawl, or write. Your heart is weakened and you are not able to digest your food. For a large number of people, especially children, this is a fatal disease. Leigh’s Disease is one of many recognized Mitochondrial Diseases. Leigh’s is a progressive neurometabolic disorder with a general onset in infancy or childhood, often after a viral infection, but can also occur in teens and adults. It is characterized on MRI by visible necrotizing (dead or dying tissue) lesions on the brain, particularly in the midbrain and brainstem. The child often appears normal at birth but typically begins displaying symptoms within a few months to two years of age, although the timing may be much earlier or later. Initial symptoms can include the loss of basic skills such as sucking, head control, walking and talking. These may be accompanied by other problems such as irritability, loss of appetite, vomiting and seizures. There may be periods of sharp decline or temporary restoration of some functions. Eventually, the child may also have heart, kidney, vision, and breathing complications. One estimate of the incidence of Leigh’s is one in every 77,000 births, however this may be an underestimate as mitochondrial diseases tend to be under-diagnosed or misdiagnosed. There is no cure for Leigh’s Disease. Prognosis is poor, depending on the defect individuals typically live anywhere from a few months, to a few years, to their mid-teens

Sunday, September 30, 2012

In Hopes of a Cure

The story of our fight with mitochondria, and hope for a cure, was featured on one of our local news stations tonight . . . WALB.com, Albany News, Weather, Sports

The interview was about 45 minutes, they cut alot.

But here is a Mitochondria "did you know"

 Mitochondrial diseases are difficult to diagnose. Referral to an appropriate research center is critical. If experienced physicians are involved, however, diagnoses can be made through a combination of clinical observations, laboratory evaluation, cerebral imaging, and muscle biopsies. Despite these advances, many cases do not receive ...a specific diagnosis. Most hospitals do not have a metabolic laboratory and therefore can run only the most basic tests. However, most hospitals will send specimens to any laboratory in the country. Not all laboratory tests are required for all patients, and your physician may decide that some of these tests are not necessary. In addition, a single blood or urine lab test with normal results does not rule out a mitochondrial disease. This is true for organic acids, lactic acid, carnitine analysis and amino acid analysis. Even muscle biopsies are not 100% accurate.

Thank you to the UMDF for the info above.
To learn more go to their website umdf.org.

It took us five months to get a diagnosis... It takes some even longer!
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