Tuesday, September 20, 2011

Mitochondrial Disease Awareness Week: LCHAD

Today's guest post is from a friend I have yet to meet in person, Candise. We were introduced on Facebook via a mutual friend, Darby who has guest-posted here before about her son with Cystic Fibrosis and other specialties. Yes, we rare disease moms find each other and stick together like glue.

Two of Candise's daughters have LCHAD - Long-chain 3-hydroxyacyl-CoA dehydrogenase.  LCHAD and VLCADD share some of the same dietary issues, as their list of "bad" fats overlap.  Her eldest daughter was born before the fatty acid oxidation disorders were added to many of the expanded newborn screening programs.  You can read more about them at Life...the good, the bad, and the ugly.

This is the story of Candise's family and the difficulty in diagnosing mitochondrial disorders without the newborn screening.


Mitochondrial disease/disorders unfortunately do not show up as bright purple spots that scream "Mitochondrial Disease". Most patients with Mito appear normal. This is one of the reasons it is commonly misdiagnosed. My youngest child, Lauren, had the newborn screening that picked up her disorder. She was born with a genetic disorder called LCHAD. She is among the lucky ones who have been diagnosed through newborn screening.

I use the phrase "lucky" loosely.

LCHAD is a metabolic disorder that is in the family of mitochondrial disorders. The defect is in the mitochondria of each and every cell in her body. She will never out grow this and there is no cure for it. Mitochondrial diseases/disorders affect multiple organs in the body and can cause GI issues, developmental delays, Autism, neurological problems, muscle weakness, chronic fatigue, vision/and or hearing problems, failure to thrive, Diabetes, bladder, bowel issues, and more.

Lauren has a laundry list of symptoms and problems due to her LCHAD but without newborn screening most children pass away before the parent(s) even know what is wrong. She has had multiple surgeries, therapies, and hospitalizations.

My oldest daughter, Kadian, is 8 years old. When she was almost 5, she was sent to an Urologist because she would not potty train. After many surgeries, blood work, biopsies, multiple failed trials on medicine,a Cecostomy tube, muscle fatigue, chronic fatigue, and a progression of getting worse she is also believed to have a mitochondrial disorder.

We are waiting for our insurance to approve her muscle biopsy in hopes that it will give us some answers.

1 in 4,000 kids will develop mitochondrial disease by the age of 10, so this doesn't only happen to babies. There are many adults who have been sick most of their life but no one knows what exactly it is till they have a child that has it.

Unless you know someone affected by it, most people have never heard of it....most doctors have never heard of it...or they believe the patient has to be in a wheelchair on a tracheotomy to have it.

Our hope is that everyday people and doctors will learn more about mitochondrial diseases/disorders so that a cure can be found.
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