Congenital heart defects are different from many other illnesses. There aren’t just four or five varieties. There are at least 30. Too often with many of these defects, other underlying conditions are also present. For instance, about half of patients with down syndrome also have a heart defect.
Just a few months after I first connected with Kristi, another CHD mom, she learned that her son’s CHD involved more than she’d imagined. Christopher was diagnosed with Barth Syndrome. Last week, Kristi wrote to tell me that May is Barth Syndrome awareness month. Awareness week might not mean much to those of you not directly involved, but I think as parents having a knowledge of all conditions and diseases out there makes us more powerful advocates. As a human being, I think that knowing about other people’s suffering and trials makes us stronger and more compassionate.
I’m going to let Kristi tell Christopher’s story and share her words from an email to me:
Christopher is a sweet, outgoing, funny and adorable little boy who suffers from Barth syndrome.
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, some of them 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.
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I’m glad that Christoper was diagnosed. He’s still a heart baby as well. He was born with a heart defect.
Getting proper diagnosis of any condition is a frustrating experience, but as Christopher’s case illustrates, all too important.
I’m hoping this awareness month leads to more research for Barth Syndrome so that more little boys are diagnosed and treated properly.
If you’d like to read more about Barth Syndrome, visit this FAQ by the Barth Syndrome Foundation.
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