Microarray is ‘go-to’ test for multiple congenital anomalies

 Chromosomal microarray testing is ideal for narrowing down the diagnosis in most patients presenting with multiple congenital anomalies, according to Dr. Laurie Demmer...

http://www.familypracticenews.com/news/child-adolescent-medicine/single-article/microarray-is-go-to-test-for-multiple-congenital-anomalies/b4d045de5d76abe6a0a0a3995b13ef8f.html

Team iDO! Race Gear

Team iDO! Race Gear

We are taking request for one final order of race gear just in time for you to receive before the holidays. Please check out the gear and contact us with your order request at shawnsanomaly@gmail.com  

Deadline to order is 9/20/2013, so don't delay. 

Performance Blade Tri Top
$66.00

For Sizing Click Here






Performance Blade Tri Short
$62.00

For Sizing Click Here





Performance Classic Tri Suit
$98.00

For Sizing Click Here

Performance Sports Bra
$46.00

For Sizing Click Here

Custom Technical Performance Short Sleeve Top
$48.00

For Sizing Click Here



Custom Run Short
$44.00

For Sizing Click Here

Lycra Arm Sleeves
$34.00

For Sizing Click Here








Short Sleeve Cycling Jersey
(Available in Kids Sizes)
$58.00

For Sizing Click Here






Cycling Bib Shorts
$74.00

For Sizing Click Here











Warm Up Pants
$78.00

For Sizing Click Here










Warm Up Jacket
$88.00

For Sizing Click Here

New Study Shows Congenital Anomaly Epidemic

One out of every 46 babies born in portions of England and Wales is born with congenital anomalies such as malformed limbs, Down syndrome and heart and lung conditions, according to research published by Queen Mary University of London.
Researchers collected a data set via birth records from six regional registers in throughout England and Wales, with data coverage estimated to be 36 percent of births in the two nations. The study, which used data collected between 2007 and 2011, is being called the most up-to-date and comprehensive ever done of birth defects in the UK

The congenital defects assessed by the survey were broad, covering heart and lung defects, Down syndrome, neural tube defects such as spina bifida, and limb malformations such as club foot.
According to the research, at least 16,000 babies (2.2 percent) born in England and Wales in 2011 had a congenital anomaly, which is a figure higher than what's present in other European countries.
Congenital heart defects were the most common birth anomaly, accounting for at least six in 1,000 births. Of those born with heart defects, 6 percent died before turning one year old.

Gastroschisis, a condition in which the intestines develop outside of the abdomen, appears to be more common in England and Wales than in other European countries, affecting one in 1,000 babies with the data pointing to a growing number of cases in the study area.

Mothers between the ages of 25 and 29 years old showed the lowest instances of babies with congenital anomalies. Congenital anomalies were prevalent in babies of women under the age of 20 and older than 40.

Although the data was pulled from national registers, the researchers were quick to note that it was incomplete.

"We remain concerned that data for substantial parts of the country, including London, are not currently monitored, meaning large regional increases in congenital anomalies could go unnoticed and their causes not investigated," said Joan Morris, from the Wolfson Institute of Preventive Medicine at Queen Mary University. "Currently there are no registers in London, the South East, the North West and East Anglia."

For more information: CLICK HERE!

Facebook Cripples Shawn's Anomaly and Labels as "Spammy"

CLICK LOGO TO GO TO WEBSITE!

Recently we were informed by supporters of Shawn's Anomaly that Facebook considers our website "Spammy"! You can see for your self.  Here are the steps:

Click To Enlarge

1. In your status update type www.shawnsanomaly.org or www.shawnsanomaly.com
2. You will receive a pop up that gives you the the message to the right.
3. If you hit the "let us know" and explain to Facebook that this is a non-profit and that follows all Facebook guidlines similar to other non-profits such as LIVESTRONG, TeamInTraining...etc.  It states that you will receive an email with a response, but they never send an email.

We have tried innumerable times to click on the "let us know" link and let Facebook know that there has been a mistake, but we have yet to receive a response. Facebook also does not offer any type of contact information for the corporate office such as an email or phone number.  This makes this issue seem to go without any resolve. 

Facebook has chosen to cripple a small non-profit trying to spread awareness about birth defects, medical research, and helping families affected by telling supporters and potential supporters that the sites are "spammy and unsafe" We have tried to reach out to them but they have completely ignored all of our petitions and requests to do something about it.

Christian Calcatelli had something similar happened to him.  He wrote, "You know, as I said this didn't happen just last week. It's been 6 long months. Soon I'm getting ready to do an international event and Facebook sharing is essential to the core."

Please help us by sharing the link www.shawnsanomalyNOTSPAM.com with all your friends and your local news channels and clicking on the "let us know" and telling Facebook that this is an error.  Hopefully together as a community we can get this fixed.

Thank You,

Matthew Murphy

Founder/Chairman

UPDATE: 9/21/2013

We have tried to reach Facebook through countless requests in the past 3 months to get this error resolved, but they are still ignoring our request.  We really need your help.  PLEASE share www.shawnsanomalyNOTSPAM.com with all your friends.  We need the community to come together to fix this.

Local Artists Create Commemorative Flag for Children with Birth Defects

Community Voting for “Kona Inspired” Video Will Ensure Local Father Carries Flag across 

Ironman World Championship Finish Line in Kona, HI

(Houston, TX)  Local dad and Ironman triathlete Matthew Murphy is on a mission to save babies with birth defects all over the world. His nonprofit organization, Shawn’s Anomaly, is committed to providing hope, assistance and inspiration to families facing this challenge. And one special locally-crafted flag will help broadcast this message globally.

Matthew is competing in Ironman’s online “Kona Inspired” voting contest to further his mission. If he wins, Matthew will compete in the toughest one-day endurance in the world: Ironman World Championship in Kona, HI. His video tells the story of his own family’s struggle with son Shawn’s devastating journey to overcome rare birth defects. Shawn’s triumphant recovery led Matthew on a mission to transform from an overweight couch-potato smoker to a successful Ironman triathlete, and then to form his nonprofit organization dedicated to the cause.

With community voting support, Matthew will carry the H.O.P.E. (Helping Others; Provide Education) flag across the finish line, featuring the names of children born with various birth defects. If Matthew wins, he will have the opportunity to share Shawn’s Anomaly’s message of help and hope via the worldwide-televised coverage of the event.

In partnership with the Museum of Cultural Arts Houston (MOCAH) and under the direction of co-founder artist Rhonda Adams, director of MOCAH’s Art Angels Healing Arts & Volunteer Network, an art workshop on June 8 will produce the commemorative flag, crafted by community artists and family members of the children represented on the flag. The Art Angel’s mission is to use volunteerism and creative philanthropy to promote social wellness. This helps maintain the uniqueness of Matthew’s journey and will guarantee that the flag will be one of a kind.

Art workshop is on Saturday, June 8th, from 10am-12pm at M.O.C.A.H., 1700 Gregg Street, Houston, TX 77020. Media and parents of children with congenital anomalies are invited to attend.

As a contest finalist, Matthew’s video submission can be viewed at www.sendshawnsironmantokona.com . The community can help ensure Matthew reaches Kona and carries the flag by voting for “Shawn’s Ironman” video from June 17 – June 27 at the same website. Supporters can vote for the video once daily, via desktop and laptop computers and via all mobile devices. Every daily vote counts in the global competition.

• To see more about Matthew & Shawn’s Story watch video at: www.shawnsanomaly.org/shawns-story
• To see more information about the H.O.P.E. Flag and to see the current names on the flag, go to www.shawnsironman.com and click on “H.O.P.E Flag” at the top of the screen.

Shawn's Anomaly Parent Package Program

Every 4 1/2 minutes a child is born with a congenital anomaly/birth defect.  It is the leading cause of infant deaths, but it gets very little attention.  Parents who have children affected by congenital anomalies often feel very alone and helpless.  Shawn's Anomaly was created in 2010 to provide education hope and help to families affected by congenital anomalies after founders, Matthew & Rachel Murphy's son, Shawn, was born with a 1 in 35 million birth defect. 

If a child with a congenital anomaly is taken to a hospital or enters the emergency room and then admitted into the hospital, the volunteers and leaders of Shawn's Anomaly are planning to provide the hospital a decorative bag (created by a volunteer) filled with a blanket, travel pillow, toiletries, etc. to give to the parents. 

The program will start in the Houston area, but hopes to expand to every other major city in the US by the end of the 2014. 

Matthew Murphy states, "When parents leave to go to the hospital, their mind is focused on getting help for their child. They rarely have time to gather things or even know what to pack for themselves. This package is just a small gesture to let them know that people care and want to help."

Each package includes the following:

Shawn’s Anomaly Parent Package
All toiletries are travel size

• 1-Tote Bag

• 1-Travel Pillow

• 1-Fleece Blanket

• 2-Shower Loofah

• 1-Pen

• 1-Notebook

• 2-Shampoo

• 2-Conditioner

• 1-Baby Shampoo

• 1 pkg Disposable Razors

• 1-Shaving Cream

• 1-Hair Gel

• 1-Mouth Wash

• 1 pkg of Q Tips

• 1 pkg of Wet Naps

• 2 Toothbrush/Toothpaste Kits

• 1 Bar of Soap

• 1-Male Deodorant 

• 1-Female Deodorant

"This will take a lot of help from a lot of people all over the US and the world to work," Murphy states, "Anyone can be a part of this program in several ways!"

Shawn's Anomaly needs volunteers who can help organize hubs in other cities and put together the packages. Supplies can be donated at participating Team Shawn's Anomaly events or by shipping to:

Shawn's Anomaly
c/o Parent Packages
3209 Prospect St
Houston, TX 77004

iDO! 5 Team Member Karrie Bellard Interviewed Live at Ironman Texas

Karrie Bellard has trained hard for months to get ready for the biggest race of her life: The Ironman Texas!

This is the same race that Shawn's Anomaly founder, Matthew Murphy, completed in 2012 that inspired other every day athletes to race for Shawn's Anomaly regardless of when and where that event is.

Karrie chose to be a part of Team Shawn's Anomaly for the Ironman Texas, and was chosen to be a part of the iDO! Fab 5.

She set up a fundraiser page for the Ironman Texas with a goal of raise $2,000.  She quickly reached that goal and decided to continue her fundraising effort and raised her goal.  Check our her fundraising page ad watch her introductory video: CLICK HERE!

Karrie grabbed the attention of the Ironman Foundation and they invited her to take place in the featured athlete panel on Thursday, May 15, 2013 at 12:00pm CST.  You can watch the interview live by going to the LIVE EVENTS tab at the top!

The influence of misclassification bias on the reported rates of congenital anomalies on the birth certificates for West Virginia-A consequence of an open-ended query

Abstract

BACKGROUND:

Passive surveillance for congenital anomalies using birth certificates are generally considered to have biased reporting, though the sources of those biases are not well-known nor controlled for. We have analyzed the congenital anomaly reporting data for 418,385 live births in West Virginia (1990-2009) from the 1989 US standard birth certificate and have newly identified a particular source of bias.

METHODS:

Congenital anomaly prevalence rates per 100 live births have been determined for both specified birth defects and for other congenital anomalies by county, by hospital, and by year. Extreme outliers were identified by z score. Text strings for "other congenital anomaly" reports recorded for 1998-2009 were assessed for information on congenital anomalies.

RESULTS:

While rates for specified birth defects reported in checked-box format showed little variation, rates for "other congenital anomaly" collected in open-ended format showed much variation. Nearly half of the "other congenital anomaly" reports were for neonatal conditions rather than for major structural congenital anomalies. This misclassification alone had elevated the state-wide congenital anomaly reporting rate from 1.1 to 1.8% of live births. Geographic clustering and a temporal bulge in congenital anomaly reports disappeared after misclassified data were removed.

CONCLUSIONS:

Data collected in checked-box format on specified birth defects showed consistent patterns over time and space, while data collected in open-ended format on "other congenital anomalies" showed an epidemiological pattern reflecting neonatal conditions rather than birth defects. The 2003 US standard birth certificate wisely limits data collection to specified birth defects using the checked-box format. Birth Defects Research (Part A), 2013. © 2013 Wiley Periodicals, Inc.

Ironman runs to raise awareness on child birth defects

See the written story by clicking the link: http://newsfixnow.com/2013/04/16/ironman-seeks-to-raise-awareness-on-child-birth-defects/

A Report on Prenatal Counseling For Congenital Anomalies

Prenatal counseling for congenital anomaly tests: parental preferencesand perceptions of midwife performance.

OBJECTIVE: Evidence-based instruments to evaluate the preferences and experiences of future parents regarding prenatal counseling for congenital anomaly tests are currently lacking.

For more, go to: http://www.ncbi.nlm.nih.gov/m/pubmed/23447385

Athletes: Get Sponsored Through Team Shawn's Anomaly

GET SPONSORED!

Become A Part of Shawn's Anomaly iDO! Fab 5 Team*

Any endurance athlete that has ever done it can tell you that training for and competing in an endurance event like a marathon or Ironman distance triathlon event can be very expensive.  On top of the physical demands and time for training, a lot of money can be spent on equipment, coaching, nutrition, and apparel. Sometimes the cost can nearly seem impossible to afford.  

The heart of the Shawn's Anomaly Mission is proving that anything is possible, so we have partnered with some great sponsors to offer 5 special athletes a chance to gain sponsorship on their journey to fulfilling their dreams of becoming a marathoner or Ironman.

If you are planning on competing in a 1/2 marathon or larger running event or a 1/2 Ironman distance or larger triathlon in 2013, Shawn's Anomaly would like to offer you an athlete sponsorship for your journey.  All you have to do is make Shawn's Anomaly your Reason2Race.  Here are the benefits of sponsorship:

Race Day Running or Triathlon Kit 

Since 2011, Champion System has been a proud sponsor of Shawn's Anomaly. As a worldwide leader in custom technical apparel, Champion System was founded in 2005 and has quickly earned the reputation as a company offering the finest quality handmade garments for a wide range of sports and activities. 

Strong customer relationships and close collaboration with the world's top athletes has been the key to Champion System’s success. Olympians, National and World Champions, and recreational athletes of all levels wear their distinctive and stylish garments. 

$100 Gift Card From MyFitFoods 

My Fit Foods strives to make fresh, healthy meals to go that are designed to increase energy levels and help those who want to lose weight safe and naturally.

My Fit Foods offer prepared healthy, nutritious and balanced meals along with related products and nutritional consultation services. Over 90% of their meals are gluten free and made fresh every day.  Their meals are perfect for those athletes that spend a lot of time training and have little time to focus on making healthy choices and preparing healthy meals.

Eat Fit, Live Fit, Feel Great

Free Pair of Running Shoes

Newton is a powerful running experience. Run in Newton and you'll be moved by a highly responsive cushioning and ground feel that protects and connects you with every step. Their patented design is built on a more level to the ground platform - like your feet - to support and strengthen your natural motion. Their running shoes are light and comfortable so you can run your own best.

Newton was founded on the principle of helping others. It starts with their commitment to the community and continues with their involvement with a diverse range of philanthropic organizations around the world. They are proud sponsors of Shawn's Anomaly.

Free Pair of yurbuds

yurbuds was founded in 2008 by Seth Burgett, President and CEO, an active triathlete and Richard Daniels, COO, a 24-time marathoner. 

yurbuds' mission is to transform the Athletes' experience through Personalized service and Exceptional audio products that integrate ergonomics and emotive design. Studies show that music can help you increase the intensity and duration of your workouts by as much as 15%, but for most people, they don't get that benefit because their earphones hurt and fall out.  yurbuds sport earphones help push you past your barriers and #BEYONDTHEWALL through their award winning products that keep up with even the most rigorous activity.

Yurbuds is a proud sponsor of the Shawn's Anomaly iDO! Fab 5 team because of their commitment to inspire and push people to reach beyond their personal barriers!

Free Fitness Tracking App & 1st $100 Donated to Athletes Fundraising Page

Since 2008 Bluefin Software have been developing apps for mobile devices that have helped new and experienced endurance athletes.  Their apps (Examples: Ease Into 5K, Bridge to 10K, Higdon 1/2 Marathon and Full Marathon Training, and Boot Camp) are more than just beautiful at their core, they’re designed around the fitness experiences of real people and supported by the latest knowledge in health and fitness, software design, and technology.

Bluefin Software have been a proud sponsor of Shawn’s Anomaly since 2012 and are looking forward to supporting the sponsored athletes along their journey of fulfilling their dreams.

Free Online Fundraising Webpage & Tips

Reason2Race provides you, athletes of all levels, the opportunity to enhance your race experience. We invite you to pick one event this season to be the one that challenges you to reach your next performance goal while making a difference in your local and global communities. If you are looking to take your event participation to a new level, choose Shawn's Anomaly as your Reason2Race, and experience how supporting others supports you in reaching and exceeding your athletic goals!

Shawn's Anomaly and Reason2Race eliminate the fundraising worries by not setting minimum standards on fundraising obligations that you are responsible for fulfilling if you don't reach you goal.  This approach gives you the greatest opportunity to not only meet, but exceed your fundraising and athletic goals while providing tips on how to maximise your communication with your supporters.

Free Video & Photo Collectors Package

Rugged Media Productions is experienced and creative in photography and the video production process. Based in Houston, RMP offers competitive video production costs to their clients. Whether your video production is a sporting event video, a corporate video, a commercial, or a family video, finished product is appealing and impacting to both their clients and their target audiences.

Becoming a marathoner or Ironman is a defining moment in your life that you want to live over and over again, and by providing you with high quality images and video of your training and event day experience will help you document your experience in the best way possible.

Finally, as a part of Team Shawn's Anomaly iDO! Fab 5 team, you will have the opportunity to train together in and around the Houston Area during supported swims, bike rides, and runs.  It is just our way of showing our appreciation for your commitment and to help with your successes.

Apply today to become a sponsored athlete through the Shawn's Anomaly iDO! Fab 5 Team & be a part of something special! 

Team Members Names will be announced on www.shawnsanomaly.org on February 15, 2013!*

*As a part of the sponsorship athletes are required to:

• Be signed up for event (1/2 marathon or greater running event or 1/2 Ironman or greater triathlon)
• Set up a Reason2Race fundraiser page with goal of $2,000.00**
• Provide a monthly training report email to supporters and sponsors
• Participate in a video interview for Team Shawn's Anomaly and provide Shawn's Anomaly with permission to use your name, photos, and videos for marketing and fundraising efforts. 
• Participate in at least one sponsor promotion if requested
• Volunteer in one iDO! Heath & Wellness event benefitting youth or beginning athletes

**Page has to be set up 90 days before race event.

National Birth Defect Prevention Month

Even though it is the last day, we wanted to send another reminder that January is National Birth Defects Prevention Month. This year Shawn's Anomaly is actively focusing on helping healthcare professionals and the general public to take positive steps to reduce the risk of congenital anomalies such as Congenital Heart Defects. Congenital heart defects are one of the most common types of birth defect and some forms may be preventable through healthy life style choices and medical interventions before and during pregnancy. In addition to information about prevention, the Shawn's Anomaly offers support to families who are dealing with the realities of a child born with one of these conditions.

Congenital heart defects include abnormalities of the heart that are present at birth. Some have only a minor and brief effect on a baby’s health and some have very serious and lifelong effects. Nearly 40,000 cases (approximately 1 in 110 live births) are reported annually in the US.  Public awareness, accurate diagnosis, and expert medical care are all essential for adequate prevention and management of these all too common and deadly conditions.

Studies have demonstrated several important steps women can take to help prevent congenital heart defects in newborns. Women who are pregnant or may become pregnant are advised to:

• Avoid all alcohol and illegal/recreational drugs.
• Avoid exposure to smoke, chemicals and toxins both at work and at home.
• Take a folic acid supplement and check with their healthcare provider to confirm that you are getting adequate amounts of all the essential nutrients.
• See a physician prior to pregnancy, especially if there are medical conditions which require medications, any known metabolic conditions including diabetes, obesity, phenyketonuria (PKU), or a family history of congenital heart defects.
• Receive regular medical check-ups and educate themselves about their family history and potential genetic risks
• Diabetic or obese women should make sure that blood sugar is under control and work toward a healthy weight through a nutritious food plan prior to conception.

If you or someone you know has a member of the their family that is affected by a congenital heart defect or any other congenital anomaly, please let them know about our mission to provide education, hope, and help to families affected by congenital anomalies.  No need is too great or too small.

If you would like to help us by supporting this mission please go to our website www.shawnsanomaly.org to donate or contact for volunteering opportunities.

Impact of parental ages and other characteristics at childbearing on congenital anomalies

Results for the Czech Republic, 2000-2007

If the impact of maternal age at childbearing on congenital anomalies is well-known for the occurrence of Down syndrome, less is known concerning its effects on other major anomalies. Information is even scarcer for the possible effects of other maternal characteristics and of age of the father...

http://www.demographic-research.org/volumes/vol28/5/default.htm

http://www.demographic-research.org/volumes/vol28/5/28-5.pdf