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.

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

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

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.

Isabella's Story

Below is the story of little Isabella, who is yet another one of God's precious miracle babies. Since beginning this blog, I've come across more and more people with positive outcomes in situations of cystic hygroma, Turner Syndrome, and CHDs. I also continue to come in contact with more and more pregnant moms in the same situation I was in, who need to hear these encouraging stories. As I've said before, it was difficult for me to find any positive news when I found out about my Avery, so I am so thankful to share such awesome journeys with other mothers in need. The terms "septated" and "large cystic hygroma" are so very familiar to me! While not all outcomes will be positive, we should know that there is always hope and comfort in our Lord, Jesus Christ. Each and EVERY life has a purpose, regardless of the length of that life. Spoken so beautifully below in Cheryl's words, these babies are eternal. Life is not for us to understand, as hard as we sometimes try, and we must trust in our Creator to have control in our uncontrollable situations. I hope you enjoy reading about this precious one- I know I did!

God Bless,
M

ISABELLA’S STORY
In the words of mommy, Cheryl Linder


I am 47. Isabella was a surprise pregnancy. I worried because I had some wine in late November and early December before I knew I was pregnant. This was preorganogenesis, but when anything goes wrong, you are so afraid that you did something to cause it.
There was a 95% chance of miscarriage in the first trimester because of my age and the chances of getting pregnant naturally at 47 are slim to none, so I certainly wasn't expecting to become pregnant.

I waited for 11 weeks before making a doctor's appointment. I certainly didn’t think that I would really have a baby.
The heartbeat was seen at 12 weeks and the baby appeared normal, but my home OB's sonogram has a very low resolution, which I didn't know at first. Later, my quad screen came back with a 1 in 4 chance of Downs Syndrome. I didn't think anything about it. They are not very accurate. I was still hesitant to believe that I wouldn’t miscarry due to my age, but beginning to be more hopeful.
At my 18 week visit with the perinatologist, they did a sonogram with high resolution and they found a large cystic hygroma and an echogenic bowel. And it was a girl. Her head circumference was measuring a few weeks behind as were her long bones. Her overall measurements were a week or so behind, He couldn't see her heart or face. He classified hygromas as and small, medium and large. It was 1/3 to 1/2 the size of the babies head and extended all the way down her back. The perinatologist said that the chances of survival were slim to none and offered me an abortion. He wanted to do an amniocentesis, but said that it wouldn't help the baby, so I declined.
He said that the hygroma was septated and that those almost never resolve even when they are small, but that he had seen things he didn't think would get better get better. But he didn't want me to have false hope. I told him hope was not a bad thing. After we left his office, I broke down in tears. I had finally decided that I really was going to have a baby and I was really excited. Now it seemed that I would lose her. I was heartbroken. I researched online and found that the statistics for survival of a small, nonseptated hygroma were not great, but large, septated hygromas had almost no chance of resolving. I prayed to God for her life. We named her Isabella, which means, “God’s promise,” and her middle name is Grace and encompasses all that God is , His power, love, mercy, forgiveness, healing and unmerited favor.

I wanted anything I could hold on to. I prayed that God would spare her and prayed almost daily for some sign from Him that she would be OK. I never really felt that I could hear God clearly about her. But as time wore on and she was still with me, I began to feel that He might be saying, "Yes."I lived for her kicks and flutters.

I also found the website, benotafraid.net. I found the story of Louise Foster Flannigan and her daughter, Rosie, who had a cystic hygroma with hydrops. And Laura Dawson was pregnant with her baby Rosie as I was pregnant with Isabella. Laura’s baby’s hydrops was resolving. I watched as week by week her Rosie beat the odds. There was hope
Every other week, I would listen to Isabella’s heart, still beating and hope that the hygroma was going away. At around 22 weeks at the perinatologist, the hygroma was no worse and possibly better. The long bones and head circumference were again behind as were her overall measurements. She might survive. Then he said that he thought that the baby had trisomy 13 or 18. Those are fatal chromosomal abnormalities and I was devastated. I couldn't understand why God would give me a child to take her away.
As time wore on, I understood that she was eternal. That I would always have her even if she didn't survive to term or after. That she was fearfully and wonderfully made just like my other three children and that I would have her for an eternity even if not here. I prepared for Down's Syndrome, T-13, T-18, Turner's and the death of my baby.
As I read about Down's Syndrome children, more and more friends came to me and said those were the sweetest children ever born. I read story after story of how these children blessed their families. I read stories of mother's that lost their babies to T13 or T18 and heard how their babies blessed them no matter how short the lifeI read stories of how all these babies blessed their mothers even if they didn’t make it to viability. They were loved, wanted, and eternal. ( And I read stories of survival with T13 and T18, babies that beat the odds and were so loved and cherished. My friend, Julie Stahl’s baby, diagnosed with T13 inutero while I was carrying Isabella, is thriving and developing normally. As it turns out, she has a partial T13 and is not as affected as first diagnosed. I read Rosie's story and Laura's stories again and again and felt hope that a hygroma could be overcome.
At 24 weeks, her echo of her heart appeared normal.

At 26 weeks, my oldest daughter, Sarah, got married. My youngest daughter, Rachel, sang a song at the wedding that she had been singing to Isabella and as she sang, Isabella kicked the entire song. The song was “My Shepherd Will Supply My Need.” I knew she heard it.
At 28 weeks, the hygroma was completely gone. I believe this was the visit where he said that one of her kidneys was polycystic and that the other was probably functioning, but that he couldn't guarantee what would happen with her kidneys. Her measurements were following the same pattern with an overall 33rd percentile. He again said that he thought the baby was T13 or T18. The sonographer said that she thought her feet were swollen. I certainly hoped so as that was a sign of Turner’s and not of T13 or T18. I was still devastated that he thought it was T13 or T18. I knew that God would bless me with either outcome, but so wanted to keep my Isabella. I prayed for what I wanted, a daughter to keep for a lifetime.
At 32 weeks, her measurements fell to overall 15th percentile. He thought she had rocker bottom feet and again said that he thought she was T13 or 18. Her head and long bones had fallen even further behind normal. Again the sonographer thought the feet just swollen. I was suffering from preelcampsia and there was a possibility that the placenta was not functioning optimally with her further decline on the growth chart.
She was delivered at 34 weeks due to preeclamsia. The placenta was 25 to 30 % abrupted and I would have lost her at 40%. Two of the happiest moments in my life were when I heard her cry when she was born, she came out furious and screaming, and later when the perinatologist came in and told me that she appeared to have Turner Syndrome. I cried tears of joy. I would get to keep her. She was 4 pounds 1 oz. and 17 inches long. Isabella went straight to room air. She had to have some time to be able to take nourishment. They started with 5cc every 3 hours and in 10 days had her to 2 oz every 4 hours. She came home at 11 days old and 4 lbs 6 oz.
As a tiny infant, she is a beautiful baby and a joy to have. We all adore her and can't imagine life without her. She is so sweet to hold as she snuggles into you when she sleeps. She loves to be held, talked to and sung to. She expresses her wants clearly. She makes the sweetest sounds and squeaks when she is enjoying being fed and snuggled. She says "Unh-unh" forcefully if you do something she doesn't like. And of course screams her head off if you really upset her. We all exclaim over her all day and she never lacks for a willing set of arms.

Don't give up hope. The doctor's are often wrong. They don't know your baby’s future.
Hang on.
Sing to your baby. Read to your baby. I did. Do all the things you would like to do with your baby now. Enjoy your baby and your pregnancy as much as you can.
Don't let this steal your joy. I am sorry for the times I let the trial steal my joy. Enjoy this baby. You may have all you want and more. It can be better than you ever imagined.
And your baby is eternal, whether held here for a short time or for a lifetime.





Update April 2011:



Isabella is now 9 ½ months old, 8 months old adjusted for prematurity. Her heart is fine. She has one kidney that is slow to drain, but that seems to be resolving, it was not polycystic, it was hydronephrotic, meaning that it was not draining properly, but fully functional. She sits alone, babbles, says Mama, and is still the light and joy of the entire family.

Fetal Cystic Hygroma

For those who have never seen a cystic hygroma, this is what it looks like. It's the really dark area around the baby.

Turner Syndrome Diaries - Overview

Awareness is so very important! What a great video!

Our Miracle Son ~ Joshua

Links to Cystic Hygroma Success Stories!

The following links are success stories of babies with cystic hygroma. As I have said before, during my own pregnancy, it was very difficult to find anything positive or uplifting online. While the awful can happen, so can the awesome. Have hope in Christ. Please check out these links!




https://www.facebook.com/video/video.php?v=631675006312

http://community.babycenter.com/post/a22080823/finally....my_success_story

http://www.benotafraid.net/story.asp?id=102

http://www.helium.com/items/1103331-turners-syndrome-hydrops-cystic-hygroma-miracle-baby

http://community.babycenter.com/post/a15060085/lets_post_our_ch_success_stories_for_all_those_that_need_hope?cpg=1&csi=2071507502&pd=-1

Prayers

Please continue to pray for Caroline and Sydney as they recover from surgery. You may read updates on our Facebook page. God Bless! Megan

Reverse ♥

Son of man, speak to Israel. Tell them, 'You've said, "Our rebellions and sins are weighing us down. We're wasting away. How can we go on living?" 'Tell them, 'As sure as I am the living God, I take no pleasure from the death of the wicked. I want the wicked to change their ways and live. Turn your life around! Reverse your evil ways! Why Die, Israel?' Ezekiel 33.10-11


God loves us more than we can understand. He created us for purposes that we sometimes neglect. He calls us to move, not to sit and live in our own little worlds with our own agendas. The beauty of it all is that you, just normal, every day you, are capable of doing amazing things you never dreamed you'd do when you allow him to use you. Sin weighs us down, and keeps us from living the life he has planned for us. It is so difficult to remain separated from this world and its views, but it is possible. The life he has planned may not be the life we've envisioned for ourselves, but it is so much bigger and more amazing than our own selfish missions. While he will allow us to perish, he surely doesn't want us to. We are his creation!
He's trying to tell you that he loves you today, but along with his expression of love, he's asking you to follow him. Following him requires that you work on a relationship with him, and really change your life. Simply saying you know Jesus and feeling as if you are a good person is not enough. As hard as it is for some of us, he requires surrender. You must come to him broken- we are all broken and powerless after all. To truly know Him is to love him, and when you love someone, you spend time with them and learn as much as you can about them. None of us are good enough or perfect enough to deserve what he has to offer, but that's why he sacrificed himself- that we may be free and that we may be saved! I quote from one of my favorite songs, "Don't you know who you are- what has been done for you?" You are MORE- let Jesus remake you today. You'll soon figure out that you've been missing out, and you'll find true joy and true peace in life, which is priceless. Don't die- reverse! ♥