When you are a member of the heart community, we often get bad news. There are times when I fear what I am going to see on my Facebook newsfeed when I log in. Too often, these parents lose their heart kiddos. Sometimes they don't even know their child had a heart condition. Sometimes they know of the heart condition, but don't know what caused it.
I have had the privelege of getting to know a great woman, Kristi Pena, through Facebook's community of heart moms. Her son, Christopher Jr. (CJ), is an inspiration. Not to mention quite the handsome little guy!
The month of May has been set aside to promote awareness and increase knowledge of Barth syndrome. We would like to put a face to this syndrome. We want people to realize there is more to a boy or man affected with Barth syndrome than just a diagnosis. These are people with stories to share, enlighten and even inspire.
Here is CJ's story, as told by his mom Kristiana (Kristi) Pena:
You would not know he had BTHS just by looking at him, as he and the other boys compensate So well to have such a multitude of issues.
You would not know the endless appointments, specialists and therapies he must go through on a regular basis. You would not know that he must have injections several times a week to make his white blood cells produce sufficiently and be able to fight infections. He must take antibiotics everyday forever.
You would not know he takes 8 oral medicines a day to help his heart function properly.
He does have more difficulty in eating and because of this, Pediasure is there to help him get enough nutrition. A true Barth’s boy, he does love his butter, salt and eggs.
He has a lot of energy when you first observe him, but if you know him well, you know he does get tired more easily than others his age. Because of this, he sleeps longer than most at night.
We let Christopher guide us and he though he was slower at walking, talking and doing other normal physical things, he is very smart. Here is the story of Christopher:
Christopher Pena was born in April 2008 with non-compacted cardiomyopathy. Non-compacted cardiomyopathy is a very rare condition in which the heart muscle remains sponge-like after birth, which 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. They said the only fix was a heart transplant. At that time, we opted against.
Christopher was not given very long to live. Six months at most When he was 45 days old, he was admitted into hospice care where he remained for 15 months. Christopher was released from hospice when an echo cardiogram showed that his heart function had tripled! And at 18 months, his heart function was almost normal.
In February 2010, it was discovered that Barth Syndrome is the cause of Christopher's cardiomyopathy.
Barth syndrome is a rare, sex-linked genetic disorder of lipid metabolism that affects males. Typically, boys with Barth syndrome 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 Barth syndrome 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. It is very rare, so much that if people would hold hands from one end of the world, all of the way around, only one of those people would be a boy with Barth syndrome.
There is no specific treatment for Barth syndrome, but each of the individual problems can be successfully controlled.
Barth Syndrome Foundation’s Month of May awareness campaign featuring other family stories and quotes:
Read Christopher's story in greater detail here.