Diagnosed With Achalasia and Gene Abnormalities: Baby Milla is One in 6 Billion

April 18, 2013

Baby Milla is now seven months old.

It’s in those seven short months that she has experienced more than many have and ever will in their lifetimes. Hospitalized at five and a half weeks old, Milla was experiencing symptoms that left her mother terrified. The baby girl was inexplicably choking and turning blue. It took many weeks of arguing with doctors about whether or not her symptoms were caused by acid reflux and months of hospitalization before Milla was finally diagnosed.

Milla was a patient with a rare skin disorder called Achalasia.

Achalasia is a disorder of the tube that carries food from the mouth to the stomach (esophagus), which affects the ability of the esophagus to move food toward the stomach.

It took 45 dermatologists before her hypertension, thin bones, low immunity, inability to absorb protein and calcium, and her kidneys being two different sizes to be matched with the diagnosis.

Milla also has 20 genes missing from chromosome 8 and extra genes in chromosomes 12 and 13.

Her doctors estimate that Milla is one in 6 billion. So they are not sure how all this will affect her in the future. To learn more about Milla or to send her family a message you can visit her Facebook Page.

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