Wednesday, October 27, 2010

Mis-diagnosis results in 3 children with Mito removed from family

On October 24, 20089, three children in Ontario were removed from their family because the hospital they used accused the mother of faking their illnesses. The children suffer from Mitochondrial Disease. Their mother Carolyn Scholey is raising awareness of the danger this could happen to anyone. Since she began, two of the three children have been returned to her, but the third - little Joshua - is still in the custody of authorities. Carolyn struggles with the legal system to have him reunited with his family, but progress is painfully slow in coming.

Mitochondrial disease (Mito) is a disorder in which the part of the cell that produces energy malfunctions. These energy producing cell parts are called the Mitochondria, and they produce about 90% of the energy your body needs to function and survive. When the mitochondria aren't working properly, cell injury and death result. If this goes on long enough, whole systems begin to fail. Receiving a diagnosis and treatment for mito is vital to a positive outcome. Mitochondrial disorders are progressive diseases. If progression continues far enough, the body can no longer sustain life, and the patient dies. Until serious damage occurs, Mito is often considered an invisible illness.

Usually mitochondrial disorders are diagnosed in childhood. Now that we know more about mito, adult onset of the disease is being recognized much more frequently than previously thought. Still, it is difficult to diagnose and there are precious few doctors who know enough about it to recognize or help patients with the condition.

Mito can easily be misdiagnosed. Other diseases and disorders like gastrointestinal disease, Migraine and Autoimmunity are frequent misdiagnosis'.

Mitochondrial disorders can be inherited. One of the most famous cases of mitochondrial disorders was Mattie Stepanek and his family. Mattie was born with the condition, and his mother was advised to institutionalize him and "let nature take its course". Mattie lost all his siblings to the same disease he and his mother had, yet he grew up to be an inspirational poet and peacemaker dear to millions. Mattie died of his disease at the age of 14.

Mito can be triggered by medications, toxins, or illness.

Mitochondrial disorders create a variety of symptoms depending on which cells, organs and systems are effected first. Some symptoms of Mito include:

* Difficulty controlling movement, weakness
* Neurological problems. Seizures, Migraine, movement disorders, balance trouble.
* Autistic-like features
* Heart, liver, kidney disease
* Swallowing difficulties, and gastric motility problems = stasis, vomiting, severe constipation
* Diabetes
* Increased risk for infection
* Thyroid and/or adrenal dysfunction
* Autonomic dysfunction
* Cognition trouble, confusion, disorientation, memory loss
* Pain

When I read about this family, I was compelled to veer from my normal blog topics in the interest of letting you know about the situation and about Mito. I'm afraid Carolyn's family's story is illustrative of what can happen when physicians choose not to dig deeply enough for an appropriate diagnosis.

I do believe Occam's Razor applies to science - All things being equal, the easiest answer is usually the correct one. However, I think that not enough emphasis is put on the word 'usually' in a medical situation. Medicine is science, but it is more than that, and people's lives are on the line.

So often I hear from patients who have been told their illness is psychogenic, or they are referred to a psychiatrist to "get their problems straightened out". Depression results, and anger. Doctors down the line see the depression and the anger and assume the initial psychogenic assessment was correct instead of a self-affirming prophecy. And so the snowball begins its roll down the hill...

I know just a little about Mito, but other Health Activists are very active in the Mito community. For more information I suggest clicking the links in the text above and below, or contacting the following Health Activists, who can put you in contact with even more HA's!


You can read more about Mito here:

Mitochondrial Disease and Dystonia
Comment by MeganM on November 1, 2010 at 12:52pm
Ellen- This story is absolutely heart-wrenching but I'm so glad you shared it! Also the links were extremely helpful, thank you. Great post as always :)
Comment by Ellen S on November 1, 2010 at 2:36pm
Thanks Megan, I always hate to hear when misdiagnosis occurs, but to have that misdiagnosis result in a family being wrongly separated... well that is just one example of the collateral damage of undiagnosed chronic illness.
Comment by Debby on November 4, 2010 at 11:22pm
Thank you for educating us on this illness. We take so much for granted. Blessings.
Comment by Ellen S on November 5, 2010 at 2:28pm
Thanks Debby! Mito is one illness whose symptoms cross so many barriers. Very few doctors know much about it at all, so there is a very good chance many mito patients are suffering without that vital diagnosis.

I'm happy to say that the mother did report back that she found out child #3 does NOT have Mito - Yay!

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