I am in disbelief as I sit down to write this post. Shocked (not really, because you all are AMAZING!) at what can be accomplished when people come together for a like cause; the results are incredible. Blown away by your selfless support.
It is with great humility and amazement that I share with you all what an amazing job YOU did with Happy Heart Week 2018…
Together, we have sent $72,000 to the Barth Syndrome Foundation over the last 2 weeks!!!!!!
We can’t even believe it.
So awed by your generosity.
We hope you all feel ownership in Happy Heart Week…we couldn’t have done it without you! The amount of money raised, the awareness spread, the lives touched by your showing of care…thank you.
Thank you for being the most generous, compassionate, caring, and supportive group of people we could even imagine.
Thank you for reading all of my emails.
Thank you for passing them on to your families and friends.
Thank you for your sweet notes and words of encouragement.
Thank you for liking and sharing our Facebook posts.
Thank you for allowing yourself to be moved to donate, and for taking the time to act on it.
Thank you for taking the time to tap into your company’s resources, allowing them to help our cause.
Thank you for your thoughts and prayers…we felt them in very tangible ways.
Thank you for thoughtfully giving your money to help with something that could so greatly affect our family.
Thank you for genuinely caring.
We are forever touched, completely indebted, and so very grateful to have you in it with us, part of our Village, helping to hold us up, even before we know we need it. Please know how loved you have made us feel. Not that a dollar amount quantifies love, but just the fact that so many people gave and contributed in some way, shows us such great love. We continue to be deeply inspired by those that have so faithfully year after year given to the Barth Syndrome Foundation, and those that gave for the first time, many that don't even know Henry. If you donated, your Henry Heart card will soon be in the mail!
We are praying over the gifts you made to the Barth Syndrome Foundation; praying that they will be thoughtfully used, and that they would be part of an important step in finding a cure for Barth Syndrome.
If you were not able to contribute this time, please don’t worry. Simply educating yourself is helpful for the greater cause. And if you find you want to give at a later date, the Barth Syndrome Foundation is always happy to receive a tax-deductible gift, any time of year. www.barthsyndrome.org. It's never too late to give :)
Another way we can all continue to help, without giving any extra money, is to shop on Amazon Smile! It has the exact same products and pricing as Amazon, but it allows you to choose a charity that Amazon will donate 0.5% of your purchase to, all the time. Once you choose your charity (Barth Syndrome Foundation), you don’t have to do anything but continue to shop on Amazon Smile. www.smile.amazon.com
Our family is headed to Florida again this summer for the Barth Syndrome biannual Medical and Family Conference. I will post about it on Facebook, and continue to keep you in the know on the status of the clinical trials and Henry’s health. And if you ever have any questions about any of this, please feel free to reach out.
While hard, exhausting, and emotionally draining, this week was also so full of celebration for our family and the beautiful 6 years of life that Henry has shared with us. We are blessed! Thanks for being a part of it.
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.
FACT: One of the life-threatening characteristics of Barth Syndrome is cardiomyopathy. 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. The only surgery to correct this is a heart transplant, and even then, every other cells in the body is still affected by the mutation associated with Barth Syndrome. It was Henry’s cardiomyopathy that ultimately landed him in the PICU, and that lead to his diagnosis of Barth Syndrome, 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 of his heart function. #HHW2018 #BarthSyndrome
Last week, at Henry’s open house, we had the privilege of seeing a project (we hadn’t even heard they had done this!) in which his teacher had asked each kid what their favorite part of their body was and then had them describe why. From hair to feet, and everything in between graced the wall. Henry had chosen his heart. See his sweet words below as to why. #HHW2018