According to a first-person story on the Global Genes’ Rare Daily website, Tara Voogel and her family were plagued by a medical mystery for 40 years before Tara finally found answers to her chronic condition, GNE myopathy.
As Tara explains, her GNE myopathy medical journey began with the realization that the little things in life were beginning to become hard for her. Moving started to become difficult and she felt weak and had trouble completing everyday tasks. One of the worst parts was that her twin had the twin symptoms. The sisters met with many doctors in their childhood years. They had several studies done and countless tests to determine what the root cause of their ailments were. However, the meetings with their physicians provided no answers; the reason for their symptoms remained a mystery.
After several years, Voogel and her twin’s symptoms slowly became worse and worse. Voogel’s twin was eventually diagnosed with Limb-Girdle Muscular Dystrophy. Unfortunately, this diagnosis was not correct and her sister eventually died shortly after.
Finally, in 2010 Voogel got the answers she had been searching for for most of her life. Voogel was finally correctly diagnosed with GNE myopathy.
This very rare disease causes a person to progressively lose their muscle over their lifetime. GNE myopathy is caused by a mutation in the GNE gene and it affects sialic acid production. It causes muscle weakness (starting around age 20 or 30) in the lower and upper parts of the body and does not affect the quadriceps.
GNE Myopathy is a rare disorder and is not generally known by the public or even with most doctors who often misdiagnose it for a disease with similar symptoms.
Voogel’s diagnosis led her to become an advocate for better testing for GNE myopathy and encourages people to know the symptoms so that they can have quicker diagnosis. At age 58, Voogul has a personal blog called (insert link) where she unites the GNE myopathy community and offers a safe place for members to understand and support each other.
Some symptoms of GNE are as follows:
- Foot drop
- Waddling movements when walking due to weaker pelvic muscles
- Balance issues
- Trouble walking (especially navigating stairs)
Voogel’s writing is very encouraging to anyone who is experiencing these symptoms to go talk with their doctor.