Sunday, May 22, 2011

Williams Syndrome Awareness


"Unless someone like you cares a whole awful lot, nothing is going to get better. It's not."
~ Dr. Seuss

May is for Williams Syndrome Awareness.



What is Williams Syndrome?

Williams syndrome is a genetic condition that is present at birth and can affect anyone. It is characterized by medical problems, including cardiovascular disease, developmental delays, and learning disabilities. These occur side by side with striking verbal abilities, highly social personalities and an affinity for music.

WS affects 1 in 10,000 people worldwide – an estimated 20,000 to 30,000 people in the United States. It is known to occur equally in both males and females and in every culture.

Unlike disorders that can make connecting with your child difficult, children with WS tend to be social, friendly and endearing. Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable.

Please know the facts and spread awareness of this little known syndrome.


Please visit http://www.williams-syndrome.org/ for more information.

Sunday, May 8, 2011

Happy Mother's Day!

A baby asked God, "They tell me you are sending me to earth tomorrow, but how am I going to live there being so small and helpless?"

"Your angel will be waiting for you and will take care of you."

The child further inquired, "But tell me, here in heaven I don't have to do anything but sing and smile to be happy."

God said, "Your angel will sing for you and will also smile for you. And you will feel your angel's love and be very happy."

Again the child asked, "And how am I going to be able to understand when people talk to me if I don't know the language?"

God said, "Your angel will tell you the most beautiful and sweet words you will ever hear, and with much patience and care, your angel will teach you how to speak."

"And what am I going to do when I want to talk to you?"

God said, "Your angel will place your hands together and will teach you how to pray."

"Who will protect me?"

God said, "Your angel will defend you even if it means risking it's life."

"But I will always be sad because I will not see you anymore."

God said, "Your angel will always talk to you about Me and will teach you the way to come back to Me, even though I will always be next to you."

At that moment there was much peace in Heaven, but voices from Earth could be heard and the child hurriedly asked, "God, if I am to leave now, please tell me my angel's name."

"You will simply call her, 'Mom.'"

- Unknown


I remember my mother's prayers and they have always followed me. They have clung to me all my life. ~Abraham Lincoln

Thursday, May 5, 2011

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!


Barth Syndrome Awareness!!



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: 1996


The 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, Texas


Personal 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

Sunday, May 1, 2011

Prayers for Baby Noah!

Please keep Baby Noah in your prayers.

Noah has AVSD Complete. He has a large hole between his atria as well as another between his ventricles. His mitral and tricuspid valves are common and never completely formed. This causes him to have very rapid respirations, which mother, Christy, picked up on when he was 12 days old. He will need open heart surgery to repair holes and separate the valves. (You know how overwhelming all if this is. Both Christy & and Noah's father, Jason, are in the medical field.)
It seems the surgery will need to be sooner than first thought. Noah needs to weigh 10-11 lbs. before they can perform surgery. He is currently 7lb.3oz. Please pray for God's timing and protection for surgery...before, during and after. Also pray that God gives Christy and Jason the strength to endure what is facing them.


God bless you for your unselfishness in thinking and praying for others. I know this family deeply appreciates it.