2 more days! HHW2018
Hi everyone! Happy Saturday to you! First, thank you so much to all that have already donated! Last year we sent over $50,000 to the Barth Syndrome Foundation and I’d love to raise at least that much this year. We are half way there!! Wahoo! So, if you haven’t donated yet, please consider helping us. I can assure you, your money makes a difference, one that can really impact our family. I have had the privilege of attending the meeting in which all of the grant applicants for anything related to Barth Syndrome are reviewed and selected to receive grants from the Foundation…these grants range in dollar amount, but $50,000 could fund 1-2 grants that could really make a difference this next year, or not be seen to fruition due to lack of funds. Please help.
I have said this every year, but this is such a humbling experience...your friends and family coming alongside you in a cause that so deeply affects your family’s future...and then the friends of friends, people that I’ve never met, moved to donate on our behalf. It’s true compassion at its best, being lived out here on earth. And it is so humbling. Thank you.
Here are the facts posted from the last 3 days...
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 who has treated Barth Syndrome patients for years describes neutropenia in Barth Syndrome like a “sleeping tiger”. Thankfully, Henry has not had any major problems with neutropenia yet. He gets lab work done every 6 months if not more frequently, to check to see how everything looks from the inside out.
"The cruelest irony about Barth Syndrome is how deceptively healthy those who have it may appear. A casual observer would never appreciate them to have such a devastating illness."
~Peter Barth, MD, PhD (the doctor who founded Barth Syndrome)
FACT: Many of you often ask how Henry is doing…well, he is doing great! However, that doesn’t mean that his Barth Syndrome is gone, or in remission, or even under control. And that’s the scary thing about this disease. Things can turn in a minute. It is hard to not live in fear, especially when we see young boys with Barth Syndrome die. And that is hard to type. But we fight the fear everyday. Please don’t be fooled by these darling, healthy looking photos of Hen; but be hopeful that he is thriving, that his medication is helping to maintain stability where we know we need it now, and for a very happy little boy who knows no difference.
FACT: Since individuals with Barth Syndrome have abnormal mitochondria, EVERY SINGLE CELL in their body is affected. This is why they battle low muscle tone, muscle weakness, exercise intolerance, and energy deficiency. And studies have shown that it is real…when a boy with Barth’s does any sort of movement, they “peak” after a much shorter time and at a much different level than someone with normal mitochondria. We see this every day with Henry. It affects everything we do, from where we park the car, what activities we do as a family, what activities Henry does himself, making sure there is time for rest, an able body to carry or stroller accessible, etc.
It has been so fun this last year to watch Henry push himself, and enjoy some physically demanding activities like learning how to swim, playing soccer and baseball, learning how to ski, and participating in the school walkathon.
FACT: The Barth Syndrome Foundation has funded the first 2 clinical trials for drug therapies for Barth Syndrome. One is near complete and has tried out the drug Elamipretide on 12 of our brave young men. We will get to hear a debrief on the results this summer. Another clinical trial, CARDIOMAN is under way and is trying manipulating cardiolipin, which is actually in the mitochondria. Interestingly, both of these therapies are/could be used to treat many other diseases, so know that when you help fund the Barth Syndrome Foundation, the research that is being done is ultimately helping medicine at large. The fact that we are even doing clinical trials is so very hopeful, whether or not these are the ones that actually work. The research being done and the results are so so very important in getting closer to a treatment and saving the precious lives of our boys and men.
Thank you for reading to the end :) And thank you again for all of your support! Please don’t forget to take advantage of your employers donation match program if they have one! It’s a great way to double your money. And all donors will receive a great Henry card for this year.
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I am privileged to be the mommy of 3 beautiful and wonderful little boys, one of which has an awful disease, Barth Syndrome.
A happy heart makes the face cheerful.