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Christopher Pena, Mississippi

by Elizabeth W. on Friday, May 30, 2014

Christopher Pena, Richland, MS

Christopher's Mom, Kristi, shares her son’s story with heart disease...

My son Christopher was born in April 2008.  Shortly after birth, he appeared to be struggling under the vigilant watch of his nurses.  A pulse ox reading indicated low oxygen, which led to a chest x-ray revealing Christopher had a severely enlarged heart.  Doctors diagnosed him with non-compacted cardiomyopathy, a very rare condition in which the heart muscle remains sponge-like after birth and causes the heart to be very weak. 

Christopher's cardiomyopathy affects his right and left ventricles, where it is very hard for his heart to pump and function correctly.  The medical team told us that the only option was a heart transplant.  Without a guarantee of survival, we opted against a heart transplant with only the very best quality of life in mind for our son.  Christopher was given 6 months at the most to live.  We believed that the doctors could tell us what they knew from books, but our Mighty God is the Great Healer and could fully heal his heart either way.  We knew our son would be okay, but we would need some help. 

At 45 days old, Christopher was admitted into hospice care.  Fifteen months later, he was released from hospice when an echo cardiogram showed that his heart function had tripled!  At 18 months, his heart function was almost normal!!  God still performs miracles each and every day.

In February 2010, it was discovered that Barth Syndrome (BTHS) is the cause of Christopher's cardiomyopathy.  Barth syndrome is a very rare, sex-linked genetic disorder of lipid metabolism that affects males.  Typically, boys with BTHS present with hypotonia (low muscle tone) and dilated cardiomyopathy (labored breathing, poor appetite, and/or slow weight gain) at or within the first few months after birth.  Other important features of BTHS include bacterial infections because of neutropenia (a reduction in the number of white blood cells called neutrophils), muscle weakness, fatigue, and short stature.  Although most children with Barth syndrome manifest all of these characteristics, some have only one or two of these abnormalities and, as a result, often are given incorrect diagnoses. 

There are less than 200 known cases of Barth Syndrome worldwide.  If people would hold hands from one end of the earth and go all the way around the world, only one of those people would be a boy with Barth syndrome.  It was described to us like finding a needle in a haystack for the doctors to discover that Christopher has BTHS!  There is no specific treatment for Barth syndrome, but each of the individual problems can be successfully controlled. 

Christopher has most of the characteristics, including cardiomyopathy, neutropenia, muscle weakness and some other problems.  He has homebound, speech, physical and occupational therapy as well as therapeutic horseback riding.  He is currently doing very well, all things considering! 

Having this disease, which impacts our entire family, has been both the worst and best thing to ever happen to our family.     We still depend on miracles every day.  God is in control; He doesn't do half miracles and our trust in Him has never failed us.  Christopher has done many things to represent miracles, Barth syndrome, our local Children's Miracle Network hospital and Blair E. Batson Hospital for children.  He has been in countless news stories, mini documentaries and on the cover of multiple local magazine covers.  He even was mentioned in a recent Wall Street Journal article about rare diseases.  In addition to that, he is one of the 'faces' describing the 'look' of Barth syndrome in the orphanet journal of rare diseases written by one of the Barth syndrome specialists.

Christopher has met many amazing individuals along the way, including the President, Miss America and numerous other celebrities.  Christopher is in fact a living legend himself.

This past year, Christopher had a mild stroke.  For many reasons the American Heart Association is a cause near and dear to the hearts of our family.  Christopher represents the true need for pulse ox screening and congenital heart defects and stroke awareness.  We thank the American Heart Association and its volunteers for their tireless efforts in making sure the public has the knowledge and medical care needed to save lives.

To read more about Christopher or to follow his progress: Facebook--  Crusade4Christopher and/or CaringBridge Christopher.