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This fundraiser ended on 09/01/12

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Molly Sue needs all the love and support her friends and family can offer. See below for details on her challenges and how you can help.

The Shaw familiy is home! Molly, Mom, Dad and Samantha are all sleeping in their own beds under one roof. They are anxiously awaiting Molly's next step, which is heart surgery. Please see these two sites for more recent updates on Molly's journey.

 

http://www.facebook.com/mollysuecarter

 

http://www.caringbridge.org/visit/mollysuecartershaw

 

Molly's Beginning From The Shaw Family

Our journey to adopt our second daughter began at just 7 weeks gestation. Molly, our precious "22Q heart baby" was diagnosed with Tetralogy of Fallot (ToF), a congenital heart defect (CHD) & 22q11.2 Deletion Syndrome, a chromosomal defect that can have over 180 manifestations. Molly surprised us all and arrived Friday June 29th, 2012 at 36 weeks, 5 days. She was born with ToF and has a cleft soft palate, another common birth defect with 22Q. She also has and will have many other challenges resulting from the 22Q. So far we know about the heart defect ToF, a high cleft palate and some calcium/phosphorus issues as well as her feeding/swallowing problems. The rest we find out as each day passes & more tests are run.That being said, she is doing pretty well considering all she is facing.

 

What Tetralogy of Fallot (ToF) and 22Q11.2 Deletion Syndrome (22Q) Really Mean

With Tetralogy of Fallot her heart has 4 major defects: 1-Ventricular Septal Defect (a large hole between her left & right ventricle) 2- Pulmonary Stenosis (pulmonary artety & valve are too small) 3-Overriding aorta (aorta is shifted too far to the right & sits over the hole in her heart) 4-Right ventricular hypertrophy (the right ventricle wall is thickened because it has to pump so hard) In simple terms, the combination of defects means that the oxygen-rich blood & oxygen-poor blood are being mixed together through the hole in her heart & she does not get enough oxygen pumped through her body. This can be corrected with open heart surgery, but they want her to grow for at least 2 months if possible before the operation. The reason for all of her issues is 22Q11.2 Deletion Syndrome. It is caused by a missing piece of the 22nd chromosome- around 50 genes are missing. The defect happens at conception, so it is in every cell of the body. There are around 190 recognized complications/manifestations of the syndrome and no 2 individuals with 22Q are the same. Some have many complications while some have only a few. So far Molly has a lot of the most common defects associated with 22Q. Older names for the syndrome are DiGeorge Syndrome, Velo Cardio Facial Syndrome, Conotruncal Anomaly Face Syndrome & others. It wasn't until the 1990's that research identified that all of these shared the same chromosomal deletion. It is actually very common-- occurring in 1 of every 2000-4000 newborns. The range is so wide because many medical professionals are still unfamiliar with it & it is not included in standard prenatal screening or newborn screening. Many families are struggling with multiple medical/mental/learning issues that have not been tied to the root cause, 22Q. I hope this will help you understand the many challenges & victories of Molly's journey. Here are a few resources is you would like to learn more: http://www.22q.org/ http://www.vcfsef.org/ http://www.mayoclinic.com/health/digeorge-syndrome/DS00998/

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