Hello Happy Heart Week Supporters! Just a mid-week check-in to thank you for the donations thus far, (I don’t have a current total) but know that we are well over $10,000! This is great! Keep them coming! I also wanted to share with you the facts that I have posted on Facebook this week. Please continue to share them with your networks…spreading awareness is vital in raising money for research.
DAY 1 FACT: Barth Syndrome is a life-threatening, multi-system condition, with varying degrees of cardiomyopathy, neutropenia, underdeveloped muscles, muscle weakness, growth delay, exercise intolerance, and energy deficiency. Cardiomyopathy is a chronic disease of the heart muscle (myocardium), in which the muscle is abnormally enlarged, thickened, and/or stiffened. The weakened heart muscle loses the ability to pump blood effectively, resulting in irregular heartbeats (arrhythmias) and possibly even heart failure. It was Henry’s cardiomyopathy that ultimately landed him in the PICU, and that lead to his diagnosis, made through a genetic cardiomyopathy blood panel. He continues to take maximum therapeutic doses of 4 serious heart medications and several supplements twice daily to maintain stability in his heart function.
DAY 2: HAPPY 5th BIRTHDAY HENRY! What a joy you bring us! You are so silly ~ you love to make people laugh; you are adventurous ~ often willing to try new things even when other are not, and always up for some fun; and you are the most generous little soul ~ continually eager to give and share, material things hold little meaningful value to you. Thank you for teaching us how to better live life every day. We love you more than the “whole wide wirld”!
DAY 2 FACT: I bet you had never heard of Barth Syndrome before you met Henry. Did you know that there are only approximately 200 known living people in the world with a confirmed diagnosis?!? And this is why it is IMPERATIVE for us to educate as many as possible and to tap into all of the resources we can, knowing that our pool of supporters is so very small. Help us raise awareness by sharing our cause! To help make a difference by donating, visit the link in the comments below.
Thank you, thank you, thank you!
DAY 3 FACT: Another life threatening symptom of Barth Syndrome is Neutropenia. Neutropenia (noo-troe-PEE-nee-uh) is an abnormally low level of neutrophils, a common type of white blood cell important to fighting off infections. Neutropenia is quite varied among individuals with Barth Syndrome—some are chronic, some are cyclic, some are intermittent, and some don’t seem to have it at all. Many of the boys and men we have met must have a daily shot to help with neutropenia. One very knowledgeable doctor describes neutropenia in Barth Syndrome like a “sleeping tiger”. Thankfully, Henry has not had any major problems with neutropenia yet.