Month of May (MoM) Barth Syndrome Awareness Campaign"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 G. Barth, MD, PhD: 1996The month of May has been set aside to promote awareness and increase knowledge of Barth syndrome. We would like to put a face to this syndrome. We want people to realize there is more to a boy or man affected with Barth syndrome than just a diagnosis. These are people with stories to share, enlighten and even inspire. The best way to do this is by telling the world about our boys/men as well as our families.
~from www.barthsyndrome.org
Most of us realize how much just being aware can make a life-saving difference for children born with various medical difficulties. Help spread the word about Barth Syndrome today! Please read the following quotes and stories, and check out www.barthsyndrome.org today!!
In Loving Memory of Ben Thorpe
September 2, 1994 - November 17, 2010
When a Barth sufferer gets sick, it doesn´t only affect him but affects everyone around him too, from family to friends. By finding a cure you will not only be helping the sufferer but also his family and friends. When a Barth sufferer passes away, it is not only traumatizing for his family but also for all his friends who also suffer with Barth syndrome and their family members in the Barth syndrome community.
~ Ben Thorpe, South Africa "...We contacted BSF immediately after receiving the results. If we could help in any way with the research to find a treatment or a cure we wanted to get started straight away. One boy could have all of the answers, and maybe that one boy was Henry." ~ Tiffini Allen-Dollard, Mother of Diagnosed Son, Indianapolis, IN A
Personal Message from the Dollard Family...Henry Michael was born on June 30, 2008, just in time to watch his first Chicago Cubs game.Unfortunately, Henry missed the game. His sugar levels were low, warranting a night in the care unit where his nurses could keep a closer eye on him. Fortunately, the stay in the care unit led to an early diagnosis of dilated cardiomyopathy. Henry was three days old when an echocardiogram revealed that his heart was severely dilated and his ejection fraction was merely 10-15%. That day he was whisked off to the NICU, and after only nine days, his ejection fraction was at 25-30. He was doing so great that his team of doctors released him to go home to sleep in his cozy crib.After a couple of months out of the hospital, Henry’s cardiologist suggested we seek a second opinion.
After a review of Henry’s echos, he was diagnosed with left ventricular noncompaction of the heart, and it was suggested that a muscle biopsy be performed to rule out a mitochondrial disorder, just in case Henry would need to be placed on the transplant waiting list. That was shocking to hear, and we needed to educate ourselves. After a little on-line research, we suspected Henry had Barth syndrome (BTHS). We mentioned this to one of Henry’s former doctors who dismissed the idea. While we lack medical degrees and have the utmost respect for all those who have cared for Henry, we wish that particular doctor hadn’t been so dismissive, and, in hindsight, we should have insisted on a genetic test.
Barth syndrome is such a rare disorder, and we just couldn’t believe Henry could have it. Although we also had that moment of thinking someone has to have it, so why not Henry? Henry was four months old when his muscle biopsy came back positive for abnormal mitochondria, which made BTHS even more realistic. He had many of the symptoms: left ventricular noncompaction, abnormal mitochondria, and he was below the 3rd percentile in height and weight.
We lost a son in 2003. It wasn´t until after his death when we learned he had Barth syndrome. During the timeframe of uncovering the cause of our son´s death I learned I was pregnant. Through prenatal testing the child I was carrying was determined to be a boy who had Barth syndrome. That information made it possible for us to closely monitor his heart function throughout the pregnancy and to assemble a team of well-prepared specialists in advance of his birth. This contributed immeasurably to our son´s care and progress during the first few months of his life."
~ Keli Holly, Mother of Diagnosed Son, TexasPersonal Message from the Holly Family...
Keli and I always wanted a big family. We were high school sweet-hearts and, even then, spoke of wanting at least six children! That desire has never wavered. As child bearing began, the Lord blessed us with twins and we never looked back. During a period of eight years, we received into our family six healthy children. Having babies
seemed to go like clockwork. We never dreamed of a difficulty.
That naivety all changed with baby number seven. At birth, Caleb presented with a number of difficulties and was flown to Texas Children´s Hospital in Houston. He spent two weeks there, but came home without a diagnosis. The doctors could only say that he seemed to be “better”. Though he had a variety of symptoms during his short life, no one was able to diagnose the root cause. His medical care always involved a lot of head scratching on the part of the doctors. At about fourteenmonths of age, it was discovered that Caleb´s heart had enlarged to the point of no return. He was immediately flown to Lubbock, where he struggled for three days before going to be with the Lord. It was,to this point, the most difficult day of our lives."I have worked with a variety of foundations organized by families and focused on specific diseases over the years and have been pleased and amazed to see how strong an impact these organizations have on its "members". BSF is amongst the strongest, best well organized and thoughtful organizations that I have had the pleasure of working with and wanted to take this time to say "hats off" to all you have done and are doing."
~ Jeffrey Towbin, MD, Professor and Chief, Pediatric Cardiology, Cincinnati Children's Hospital Medical Center; Cincinnati, Ohio Information provided by: Barth Syndrome Foundation, Inc.
P.O. Box 618, Larchmont, NY 10538, USA
Telephone: 850-223-1128 / Facsimile: 850-223-3911 / Email: bsfinfo@barthsyndrome.org / Web: www.barthsyndrome.org
