Woman's Rare Disease Came On Quick, But Her Family Is Helping Her Through It

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Woman's Rare Disease Came On Quick, But Her Family Is Helping Her Through It

While a lot of people have thought up many excuses to get out of going to the gym, being allergic to it is probably not the normal go-to option.

Gemma Holtby is a former nurse who learned that she had a very rare disorder in a shocking way. She was going to the gym as so many people do, when she went to the washroom and realized her urine had turned black. Not only was her urine black, but her body seized up and she could not move.

She went to the hospital after a two weeks of being unable to move properly and was diagnosed with Very Long Chain ACYL COA Dehydrogenase Deficiency (VLCAD). Which essentially means that her body is unable to break down fat properly so anytime she exercises or gets stressed her body will target her muscles and destroy them.

There are usually other triggers that bring on symptoms.

Extreme stress induces the same unusual response, so when her grandfather died she had the same black urine the let her know her muscles were dying.

She is the mother of two and has a lot of trouble interacting with her children because of the discomfort she is in. She is now on an Invacare mobility scooter and on a special low-fat, high-carbohydrate diet to try to ease flareups but she is still in a lot of pain.

"I have had this illness all my life but I didn't know. I feel like I have the strength in me, but my body just says no. It's breaking down my muscles," Holtby explains, "I used to be on the go 24/7. I was non-stop. I used to love taking the kids out for long walks in the push chair. I never used to sit down."

She's having a hard time adjusting to her new limitations, "Now all I ever do is sit on my bum or I'm on the sofa. I can't do any of that anymore. It's very frustrating to go from one extreme to the next."

Holtby wants to raise awareness for the rare disease so that people can get early screenings to help prevent severe damage. She also hopes to create a charity to help other families like her who are dealing with someone with this disease.

Have you ever heard of this disease before?