A 40-Year Road to Diagnosis

Learn More About GNEMThe moment when my doctor told me I had GNE Myopathy, my first sense was one of relief. An unusual reaction, maybe, but his words were an answer to a decades-long family mystery. Forty years since my oldest sister started walking with a mysterious waddling gait, the disease that would become our constant, nameless companion finally had a name. That was a turning point, the beginning of a new path lined with courage and hope.

Growing up in a large family with six siblings, our lives began to change the year we watched my sister’s gait worsen and her strength wane. She was diagnosed with Limb-Girdle Muscular Dystrophy (LGMD). In the years that followed I began to experience similar symptoms, as did three of my siblings. Our entire family was then observed as part of a LGMD study in the 90s. Sadly, the team of doctors and researchers were originally focused on the wrong condition.

Navigating Bumpy Terrain

By the year 2000, my symptoms were severe enough to interfere with my life. I began to fall and have other mobility-related accidents. I started wearing a leg brace, hidden under long pants so that my children wouldn’t worry. What I found to be most frustrating was that I could not be physically spontaneous anymore. At times I felt defeated because my disease was preventing me from doing the things I once loved, like dancing or playing with my children. I also stepped down from a job I loved as a Dietary Director at a nursing facility.

It wasn’t until 2010, after numerous tests and studies by many doctors, that I was finally diagnosed with GNEM – a rare, muscle-wasting condition. A correct diagnosis made a world of difference. I could therefore conduct my own research; I could get answers; I could get the support I need.

The Destination Lies Ahead

I’ve seen the devastation that this disease can wreak, and I’m motivated to help others get speedier testing and diagnosis by connecting them with the right support groups and resources. I focus my efforts on expanding awareness of GNEM, the importance of genetic testing and latest research. I have been fortunate to meet with others living with GNEM face-to-face, as well as through my blog, social media and the global online community at GNE-Myopathy.org. Through it all, I am touched and inspired by the grace with which they handle their challenges. It’s what keeps me going.

If I had to give advice to others with this condition, or any other rare disease, it would be to not let your disease stop you. Whatever your dreams and motivations in life are, continue with them even if you need to modify and adapt them to fit your unique life circumstances.

“I remind myself often that on this journey of living with GNEM, I must undergo some remarkable personal challenges and push myself to clear these recurrent physical and emotional hurdles. I must come to a place of acceptance within myself as I witness my physical decline. I have learned that acceptance is not failure, for it frees me up intellectually and emotionally to continue the battle until it is won.”

gne myopathy patient

GNE Myopathy (GNEM)

What is it?

GNE myopathy is a rare muscle disease that affects both the upper and lower limbs.

What causes it?

In people with GNE myopathy, a gene mutation causes low levels of sialic acid, a substance that helps muscle proteins function properly. Without enough sialic acid, muscles progressively weaken and many people with GNE myopathy may eventually require a wheelchair.

What are some of the common symptoms?

  • Foot drop (difficulty lifting the front part of the foot)
  • Difficulty climbing stairs or running
  • Loss of strength and muscle function

How many people have it?

It is estimated that one in 1,000,000 people worldwide are living with GNE myopathy.

Common names for GNEM1

  • Distal myopathy with rimmed vacuoles (DMRV)
  • Distal myopathy, Nonaka type
  • Hereditary inclusion body myopathy
  • Nonaka myopathy
  • Quadriceps-sparing myopathy

1 GNE myopathy. Orphanet Website. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=602. Updated September 2018. Accessed March 29, 2019.

*These organizations are an incomplete listing of rare disease support organizations and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan. If you would like to have your group added to the list, please contact patientadvocacy@ultragenyx.com.