Christopher has Barth Syndrome

What an adorable little guy, right? When you look at this picture of Christopher, you would never know that he is different from any other little boy his age. You would never know what a miracle it is that he is with us today. Christopher has Barth Syndrome. Barth syndrome is a serious X-linked genetic disorder, primarily affecting males. It is caused by a mutation in the tafazzin gene, resulting in an inborn error of lipid metabolism. Barth syndrome is an X-linked recessive genetic condition, generally transferred from mother to son. A mother who is a carrier of BTHS shows no signs or symptoms of the disorder herself.
There is a 50% chance that a boy born to a female carrier will have BTHS, while girls born to a carrier have a 50% risk of being carriers themselves. All daughters of a male with BTHS will be carriers; however, none of his sons will be affected. There are several known non-carrier mothers, and for this reason experts believe mothers should be tested.
Barth Syndrome kids are affected by various, serious medical difficulties such as the following: Cardiomyopathy, Neutropenia, Muscle Weakness, Growth Delay, Cardiolipin Deficiency, and 3-Methylglutaconic Aciduria, Type II (MGA, Type II)


Please read Christopher's amazing and inspiring story about his (and his family's) Cross Healed Heart! You can find it on the sidebar. For more information, please visit the barthsyndrome.org or contact Christopher's mother, Kristi Pena. Kristi is an amazing person who is not only a wonderful mother, but a servant of Christ who goes above and beyond to support other families while spreading awareness of both CHD and Barth Syndrome. Help spread the word about Barth Syndrome today. God Bless!