Tuesday, June 29, 2010

Friday Ryan and I traveled to Salt Lake UT, to St. Mark's Hospital for a Amino and then for a MRI.
It didn't go so great.
The Amino was first. As soon as the doctor stuck the needle in, little Miss Addison got MAD, and I mean MAD.
It is done with use of an ultra sound so we could see everything. She started kicking and didn't stop.
As soon as we were done with the Amino we went start in for the MRI. Not a good thing. Addison was already worked up and would not stop moving, kicking, doing flips. So for an 1 1/2 they tried to take pictures but only got 70 in that time. They said it was one of the worse ultra sounds that they had "tried" to do. So some time this week we may have to go back?.
Results will take up to 10 days, who knows with the 4 of July happening when we will hear?

Just want to say thank you for all the prays!
And phone calls.
We love everyone.

Wanted to share this with all of you. We are participating in this research to help found out what causes CDH. Julia Wynn has also been very helpful with questions. You can clink on the links to read more.

In the News: DHREAMS

Global CDH has partnered with the Columbia University Medical Center and their CDH Genetic Research Analyses Team in NYC. (More)

Global CDH has partnered with the Clinical Genetics Department at Columbia University Medical Center to assist in the DHREAMS initiative.
DHREAMS is a national NIH funded study of CDH centered at Columbia University Medical Center.
The scientific goal of the DHREAMS study at Columbia University Medical Center is to develop a better understanding of the causes of CDH. This National Institute of Health (NIH)-funded research team is composed of health care providers and researchers across the country, coordinated at Columbia University Medical Center.
DHREAMS is designed to identify specific alterations in genes that contribute to CDH through genetic analysis of biological samples from children with CDH and their family members. The investigators hope that the information gained through our study will lead to a better understanding of the cause of CDH which will in turn lead to significant advances in the diagnosis, prognosis, prevention, and treatment of this disease.
Multiple medical centers across the country are enrolling individuals. Please contact our research coordinator, Julia Wynn at jw2500@columbia.edu or (212) 305-6987 for more information about the study and how to participate. When doing so, please mention Global CDH in the e-mail.

To visit the DHREAMS official website please visit www.cdhgenetics.com

From High Mortality to High Survival
by: Charles J.H. Stolar, MD,
Chief, Division of Pediatric Surgery
Morgan Stanley Children's Hospital

Paired with the clinical program is a research program aimed at understanding the causes of CDH. With new, higher resolution genomic technology now available, Wendy Chung, MD, PhD, Director of Clinical Genetics, Columbia University College of Physicians and Surgeons, is investigating the genetic mutations involved in this condition. Using the highly advanced methods that help predict prognoses in cancer patients, Dr. Chung is working to detect abnormalities in chromosomes, or even parts of chromosomes, that may be responsible for CDH.
"By determining the genetic abnormalities associated with CDH, we hope to be able to give better answers to the questions patients ask, such as which children will have problems in addition to the CDH, and will this ever happen again in our family?" Dr. Chung says. The ability to detect wayward bits of chromosomes is still in the research phase, and may become clinically available in two to three years, according to Dr. Chung. "By developing the data to make this technology useful, the potential is there to use it for prenatal testing as well as after birth."

http://globalcdh.org/CDH_Blogs.html Here are some blogs of CDH babies.

CDH Facts:
"Less than two decades ago, an infant born with CDH had a 50-50 chance of survival."
Overall, worldwide survival of infants born with diaphragmatic hernia has increased from about 50 percent to 68 percent in the last 20 years.”
"In CDH, most (85%) lesions are left sided, 13% are right-sided, and 2% bilateral."
"Diaphragmatic hernia is caused by a failure of the diaphragm to close or to form, for unknown reasons, at approximately eight weeks’ gestation. Most commonly seen on the left side of the body, the defect may also occur on the right side or in the central portion of the diaphragm. The opening left in the diaphragm allows abdominal organs to herniate into the chest cavity, leading to pulmonary hyperplasia. Complications arise when the lungs fail to develop and the exchange of gases necessary for survival is restricted."
“The lungs of infants with CDH are developmentally retarded, with fewer alveoli, thickened alveolar walls, increased interstitial tissue, markedly diminished alveolar air space and gas-exchange surface area."
Combining all hernia types, CDH occurs 80-90% of the time on the left side, 10-20% on the right side, and less than 5% of the time bilaterally.
Infants with CDH often present in the neonatal period with severe respiratory distress; pulmonary hypoplasia is common.
Newborns with CDH are intubated immediately to avoid bag-mask ventilation and inflation of the bowel that has herniated into the chest.
Almost all individuals with CDH have some degree of pulmonary hypoplasia. Many infants require oxygen supplementation and diuretics following surgical correction of CDH.
The male:female ratio is reported as 1.25 ,the recurrence risk is estimated at approximately 2%, the median overall mortality rate is 58% for babies diagnosed in utero, 48% if born alive, and 33% postoperatively.
"Failure to thrive" with growth parameters less than the third centile of normal is common among infants with more significant pulmonary hypoplasia and/or a more prolonged hospitalization following surgical repair of CDH.
With the proper medical care, resources, emotional support, and the strength which these babies possess...they will overcome their struggle to stay alive and provide joy and smiles to all...

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