Connecticut couple loses two children from rare disease

A couple is still coping with the tragic deaths of their two children which they say made them better parents.

Ben and Allison Gauvin lost their son Beckett, three, and daughter Clementine, two, just eight weeks apart in 2014 due to the same rare genetic disorder. 

They suffered from pyruvate carboxylase deficiency, a rare disease causing a buildup of acid in the blood that induces fatigue, difficulty breathing and progressive brain delays, which kills most infants within the first six months.

Now the couple from Connecticut has said their experience has taught them to love differently and parent their two children, Julia, nine, and Wilbur, three.

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A couple from Connecticut lost their son Beckett (in the wheelchair) and Clementine (in her father’s arms) eight weeks apart in 2014

The Gauvin’s had four children, two of which (middle) suffered from a rare genetic disorder called pyruvate carboxylase deficiency

Allison gave birth to her second child Beckett in 2010 at 38 weeks. He was immediately placed in the Neonatal Intensive Care Unit where he became distressed and struggled to breath.

Within 24 hours Beckett was diagnosed with a rare mitochondrial disease.

WHAT IS PYRUVATE CARBOXYLASE DEFICIENCY? 

 Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. 

High levels of these substances can damage the body’s organs and tissues, particularly in the nervous system.

Cells use pyruvate to turn convert sugar, carbohydrates, fat, and protein into energy.

In pyruvate carboxylase deficiency, a lack of pyruvate means the body can’t properly create energy and instead pyruvate builds up in the body and turns into lactic acid. 

This can lead to metabolic acidosis, when the kidneys can’t work hard enough to flush the acid from the system. When this happens, people can experience seizures and comas.

Pyruvate carboxylase deficiency is a fatal genetic disorder that occurs in one in 250,000 people.

It is an autosomal recessive genetic disorder, meaning both Allison and Ben were carriers of the gene and passed it down to their children.

Their first and last children, Julia and Wilbur, are not affected by the disease, but middle children Beckett and Clementine were impacted.

Instead of producing energy, the condition causes the body to produce lactic acid in the blood…

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