Mitochondria are the energy makers in our body. We all learned in high school that the mitochondria are the “power houses’ of the cell. But sometimes, genetic mutations occur in these “power houses” and cause chronic disorders that occur when the mitochondria fails to produce enough energy for the body to work appropriately.

Mitochondrial disease can affect the cells of the brain, nerves, muscles, kidneys, heart, liver, eyes, ears or pancreas. Mitochondrial diseases include autism, Parkinson’s disease, Alzheimer’s disease, muscular dystrophy, Lou Gehrig’s disease, diabetes, and cancer. One in 5,000 individuals has a mitochondrial disease. Each year, about 1,000 to 4,000 children in the United States are born with a mitochondrial disease.   – (Source Cleveland Clinic)

This Janelle’s story.

She has bravely fought mitochondrial disease for 27 years.

Janelle was born with genetic mitochondrial disease. She spent a great deal of her young life in the hospital. Mitochondrial disease can impact people in various, different ways. Janelle’s form of this disease vastly impacts her muscles and her gastric function. She was unable to eat solid food until the age of three. Since her body does not function properly, she has to rely on a broviac tube and port to give her life sustaining nutrients and medication. She struggles with neuropathy, cyclic vomiting, fatigue and malabsorption issues. Her gastric function is so compromised that she frequently becomes dehydrated and malnourished. The veins in her body literally collapse from the lack of necessary nutrients and hydration. The only solid foods she can eat are potatoes. Janelle’s diet is mainly comprised of chicken broth.

Janelle is sharing her story because she wants people to know that Mitochondrial disease may be invisible but it is very real.  We have lost more children from mitochondrial disease than we have to childhood cancer. Rare disease awareness is necessary.

Symptoms of mitochondrial disease-

(Source- Cleveland Clinic)

• Poor growth
• Muscle weakness, muscle pain, low muscle tone, exercise intolerance
• Vision and/or hearing problems
• Learning disabilities, delays in development, mental retardation
• Autism, autism-like features
• Heart, liver or kidney diseases
• Gastrointestinal disorders, swallowing difficulties, diarrhea or constipation, unexplained vomiting, cramping, reflux
• Diabetes
• Increased risk of infection
• Neurological problems, seizures, migraines, strokes
• Movement disorders
• Thyroid problems
• Respiratory problems
• Lactic acidosis
• Dementia

(These are not all inclusive, every person may not have every symptom. Mitochondrial disease has many different types, forms and origins)

Janelle may fight a difficult battle against this disease, but she is still determined to enjoy her life. She finds happiness by spending time with her family and especially enjoys playing with her nieces and nephews. She also enjoys cheerleading and tries to stay as active as her health allows. She has many friends and the children’s book, The Shivering Sunbeam was dedicated her. She is passionate about helping others realize that even though they may be battling a tough disease, they can still be happy.

 

I am going to stay positive even though it’s been very rough and difficult.  I have to fight for my life. I am not going to give up on hope or faith.    Janelle says.

 

 

If you or someone you know is battling a rare disease, please know you are not alone. The UnChargeables are here to support you. We will never stop advocating for every chronic illness patient, even the rare ones!

Rare disease awareness is necessary because you never know who may be battling an unknown health issue. Rare doesn’t mean impossible.

You are not alone! Keep fighting.

 

Would you like to share your rare disease story? Contact us!