Monday, April 30, 2012

Local Teen With Trisomy 18 Continues To Make Strides


Local Teen With Trisomy 18 Continues To Make Strides



http://www.wusa9.com/news/article/203910/28/Local-Teen-With-Trisomy-18-Continues-To-Make-Strides


ELDERSBURG, Md. (WUSA) -- Steve and Maryanne Danko of Carroll county take joy in describing the personality of their son, Mikey. They say his carefree smile and laughter are his most common expressions.
Steve Danko says, "It's so amazing how much happiness he brings to the people who get to know him."
Mikey is 14 years old, he is one of the longest survivors of trisomy 18. Trisomy 18 was brought into the national spotlight after Senator Rick Santorum announced he was dropping out of the Republican presidential nomination race. Santorum's daughter, Bella, was suffering due to complications from Trisomy 18.
Maryanne Danko says, "I remember early on when the doctors would say you've got an appointment six months from now and I thought 'well, we'll see.' You know, it was hard to kind of think six months from now because we were given such a bleak outlook."

Sunday, April 29, 2012

Australian-first genetic test boosts chances of a healthy baby

VICTORIAN couples with a history of miscarriages, those at risk of passing on genetic disorders and older women struggling to get pregnant have had their chances of delivering healthy babies boosted through a new Australian-first genetic test.

http://www.heraldsun.com.au/news/more-news/australian-first-genetic-test-boosts-chances-of-a-healthy-baby/story-fn7x8me2-1226341606862


Saturday, April 28, 2012

IDSC for Life: Down syndrome Abortion. Do We Talk About This or Not?

Click below to read the full article

IDSC for Life: Down syndrome Abortion. Do We Talk About This or Not?

We have been following a very interesting conversation via the internet.  It is between three people, all of whom we respect a great deal.

It began with an article, written by Monica Rafie and Tracy Winsor, in which they discuss the national Down syndrome organizations', NDSS and NDSC's, stance to remain neutral on the issue of abortion of babies who have Down syndrome. Monica and Tracy had suggested that the national organizations embrace "a simple and confident assertion that abortion is not an appropriate parental response to the prenatal diagnosis of Down syndrome."


Mark Leach responded to their article on Public Discourse.  The main point of his response was this, the NDSS and the NDSC "must assure the medical community that they are not pro life organizations."  He then goes on to state this, "Rafie and Winsor are quite right to call on NDSS and NDSC to take a public stand condemning selective abortion for Down syndrome. Doing so, however, is an anti-discrimination position, not an exclusively pro-life position. Rafie and Winsor’s larger argument, however, criticizing NDSS and NDSC for not being overtly pro-life or advocating the cause of the unborn ignores the actual difficult experience of expectant mothers." 


In fact, we hope you will read all of the articles. In this respectful dialogue, all three have brought to the table very good thoughts on this issue.  It is a conversation that needs to happen, as we are at a crossroads in this part of advocacy. The new test is looming. Insurance company's are partnering with the corporations that are making the test, while at the same time, the government has a mandate that is in place, ready to roll. We have no other choice, but to discuss this.


*Be sure to read the back articles within this respectful debate.

Thursday, April 26, 2012

TAG (Trisomy Advocacy Group) Stroll for HOPE - 2012 SOFT Conference

The Trisomy Advocacy Group Board Members will be participating in the STROLL FOR HOPE at the 2012 S.O.F.T. Conference and would love for your financial support in honor of our team.


Please follow the link and PLEASE SHARE THIS LINK on your personal page to help spread the word, and raise money for the S.O.F.T. organization.


SOFT is a network of families and professionals dedicated to providing support and understanding to families involved in the issues and decisions surrounding the diagnosis and care in Trisomy 18,13 and related chromosomal disorders.

Tuesday, April 24, 2012

Shorewood family keeps telethon tradition alive after losing son - Joliet Herald News

Shorewood family keeps telethon tradition alive after losing son - Joliet Herald News

Jonathan Cook of Shorewood changed the way his family saw the world during his 10 years of life.
He was born with trisomy 13, a genetic disorder also known as Patau syndrome.
Most babies with the disorder don’t survive more than a few days. One in 20 babies will live longer than six months.
Jonathan was destined to stay among the living for a longer time.
His parents, Ray and Cindy Cook, were told something was wrong after an ultrasound when Cindy was three months pregnant. Amniocentesis confirmed Jonathan had trisomy 13.
“At the time, we were encouraged to terminate the pregnancy because we were told it was incompatible with life,” Cindy said. “His quality of life would be so poor. You know, just a very grim picture was painted of what his future would be like — if he was born alive.
“That just really wasn’t an option for us,” she said. “We decided we would really just put it in God’s hands.”
Pursuing a normal life
Jonathan was a full-term baby, weighing 8 pounds at birth. He had fewer complications than other trisomy babies, Cindy said.
He needed oxygen and was fed through a tube in his stomach. But he came home from the hospital after only a week’s stay....To Read Full Article.
Photo info: Cindy Cook (below left) and her husband Ray (below right) hold a photo of their son Jonathan, who died at age 10 from Trisomy 13, as their sons (from left to right) Evan, 8, Nathan, 6, and Jacob, 8, stand nearby Monday, April 16, 2012, in Shorewood. The Cook family puts together a team for the Joliet Easter Seals telethon in memory of Jonathan. | Matthew Grotto~Sun-Times Media

Sunday, April 22, 2012

Trisomy 18 and 13: More children are surviving


Trisomy 18 and 13: More children are surviving


*Please SHARE ~ PRINT and Pass-it-on (facebook or email) to ALL your Professional Doctors and those working with Trisomy, Family and Friends 

~ Dr. Shawn McCandless, Director of the Center for Human Genetics at University Hospitals Case Medical Center in Cleveland said that the treatment and care of the children with Trisomy 18 and 13 may impact their ability to survive.

 "We don't know how well these kids can do until we give them every opportunity to do their very best," he said.

Why So Many Babies Are Still Being Born With Down Syndrome


Why So Many Babies Are Still Being Born With Down Syndrome

Abstract below 

Posted in THE ATLANTIC on APRIL 2, 2012 by Adam Wolfberg


Perhaps the most important factor is a sea change in society's approach to individuals with Down syndrome. Explains lead author of the recent paper, Jaime L. Natoli, a senior consultant in the department of clinical analysis at the Southern California Permanente Medical Group, in response to emailed questions: "Families have significantly more educational, social, and financial support than they had in the past. For example, from a social standpoint, women of childbearing age are from perhaps the first generation who grew up in an era where individuals with Down syndrome were in their schools or daycare centers -- perhaps not the mainstream integration that we see today, but still a level of exposure that was very different than in generations prior. They grew up watching kids with Down syndrome on Sesame Street."



Thursday, April 19, 2012

Better Prognosis in Newborns with Trisomy 13 Who Received Intensive Treatments: A Retrospective Study of 16 Patients.

Tsukada K, Imataka G, Suzumura H, Arisaka O.
Source
Department of Pediatrics, Dokkyo Medical University School of Medicine, Kitakobayashi 880, Mibu, Tochigi, 321-0293, Japan.

Abstract
Intensive treatment for newborns with trisomy 13 is controversial because of their lethal prognosis. We report the better life prognosis of patients with trisomy 13 who received intensive treatment. At our hospital, we provided an intensive management to such patients including resuscitation and surgical procedures as required. Herein, we present the results of a retrospective study (1989-2010) of 16 trisomy 13 cases who received an intensive treatment. None was diagnosed to have trisomy 13 before birth; 9 were delivered by C-section and oxygen was administered to all patients during postpartum resuscitation. Mechanical ventilation was used in 9 patients after tracheal intubation and tracheotomy was performed in 2 patients when withdrawing of extubation was difficult. Regarding prognosis, 9 patients died, 3 were referred to another hospital, and 4 were discharged from the hospital. Four and 7 patients died within 7 and 30 days after birth, respectively. Nine patients survived for >1 month, 7 for >180 days, and 5 for >3 years. Median survival for 16 patients was 733 days. The patients who received intensive treatments survived longer compared to the previous data. This study provides useful information concerning genetic counseling, especially from an ethical point of view, before providing intensive management to newborns with trisomy 13.

Tuesday, April 17, 2012

Poland Girl Has Same Disorder as Santorum's Daughter


www.wytv.com

"There is hope. You have options right now and you know, that's something that we need to break away from, those pre-existing stereotypes and realize you know, we can do this. There are choices. You can make choices," DelSignore said.

Besides choices, there is also support.

"You're not alone. Whether you're in any phase of this diagnosis, you're in prenatal, you have a living child right now, you have an angel child or you have an old adult child, there is support, there are others out here," DelSignore said.


Be Sure to check out the other story they did on Giuliana too


Community Pulls Through for Baby Who Defied the Odds



A community has come together to raise a staggering amount of money on short notice to help a local family whose youngest daughter continues to defy the odds.

"You take your child, and you give them the best life possible, and you do anything that you can to make that happen," said Jill DelSignore, of her daughter, Giuliana DelSignore.

Giuliana was born in August 2010 with a genetic disorder known as Trisomy 18, or Edward's Syndrome.




Sunday, April 15, 2012


Lessons Learned from Two Stories of Babies Diagnosed in Utero with Serious Genetic Syndromes


Last January Archbishop Charles Chaput delivered the Keynote Address to the 13th annual Cardinal O’Connor Conference on Life, which was held on January 22 at Georgetown University in Washington, DC. He was talking about children with special needs, most of whom would live much, much longer than Ella Rose and Sophia. But the wisdom of Archbishop Chaput’s  moving remarks made just prior to the March for Life rings equally true in this situation as well:
“These children with disabilities are not a burden; they’re a priceless gift to all of us. They’re a doorway to the real meaning of our humanity. Whatever suffering we endure to welcome, protect and ennoble these special children is worth it because they’re a pathway to real hope and real joy. Abortion kills a child; it wounds a precious part of a woman’s own dignity and identity; and it steals hope. That’s why it’s wrong. That’s why it needs to end. That’s why we march.”


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Keeping our Trisomy Families in prayer off the NEW and Updated LWT13 Prayer BLOG

  1. Trisomy in the NEWS - Bella Santorum's Fight
  2. Trisomy 18 is a genetic anomaly occurring when a child has three chromosomes, rather than two, in the 23 pairs of human chromosomes
  3. Rick Santorum may have abandoned his bid for the Republican presidential nomination, but families impacted by the rare genetic disorder that afflicts his 3-year-old daughter say he won’t be easily forgotten.
  4. “During the pregnancy and early on, my local contacts and my online community - that got me through things,” Budd said. “Now, I’m at the point where Rebekah is fairly healthy and stable, and so I spend a lot of time helping other families that are just beginning this journey, or who have never known that there is a big community to help them.”
    "Kellett, the parent of a child with trisomy 18 who died earlier, said Santorum’s presence in the race was good for families like hers and the ones she advocates for. She’s met the Santorum family more than once, and said she connects them with families she works with.
    “The Santorums should be congratulated for the sacrifice they made,” Kellett said. “I know it wasn’t easy having their daughter and all the demands of running a presidential campaign. They, I think, should just be commended for that. Boy, in my eyes, they really are American heroes.”

    Mary Kellett founded the Minnesota-based group Prenatal Partners for Life which focuses on connecting families and children with trisomy related disorders with resources, Kellett said. "She estimates the group has provided assistance to children in all 50 states and 27 countries."

    Susan Budd works with the New Trisomy Advocacy Group TAG VIDEOS

Inpatient Hospital Care of Children With Trisomy 13 and Trisomy 18 in the United States

Inpatient Hospital Care of Children With Trisomy 13 and Trisomy 18 in the United States

*** Concluding statement of 12-year American major national study of interventions on children with trisomy 13 and 18:

"Because we are currently unable to identify which children might be long-term survivors, universal application of the term lethal to the diagnosis of trisomy 13 and 18 is not appropriate."

Thursday, April 12, 2012

WOW!!! Trisomy is getting LOTS of Attention.....We will soon be a household name!!!

Abstract from an article on http://www.todaysthv.com/default.aspx


http://www.todaysthv.com/news/article/206688/288/Trisomy-18-gaining-national-attention

Trisomy 18 gaining national attention...

WASHINGTON (CBS) -- Former GOP presidential candidate Rick Santorum drew attention to Trisomy 18 during his campaign. His 3 year old daughter has the rare genetic disorder.
Little Livia Harget plays with her mom who treasures every smile, every moment. Livia just celebrated her first birthday, but doctors didn't think she would come this far. Her mother Bethany says, "They said even if she makes it to birth don't expect her to make it through birth."

Couple holding charity ball to raise funds for Rainbows

Chcek out this article 


ABSTRACT BELOW

A COUPLE whose baby girl lived for just five days are holding a fund-raising ball in her memory.
Isabel and Rick Shouler are staging the event on May 4, which would have been the day after baby Imogen's first birthday.
Imogen was born with a rare chromosomal abnormality, Patau's syndrome, also known as Trisomy 13, which was identified at a routine 20-week scan. Until then all had been going well with Isabel's pregnancy.

Trisomy 18 and 13: More Children Like Bella Santorum Survive

Trisomy 18 and 13: More Children Like Bella Santorum Survive


By CARRIE GANN , ABC News Medical Unit
April 9, 2012
"Study author Dr. Chris Feudtner said the analysis, published today in the journal Pediatrics, shows that the conventional thinking that the disease is lethal is not totally accurate."
..."the study reflects a shift in philosophy on how to treat children who have such severe genetic disorders."
..."Thankfully, this has changed in recent years. Not only do some of these children survive, they survive with a pretty good quality of life," Marion said."
..."A similar trend happened in the 1960s and '70s for children with Down syndrome, who were once thought to be disabled beyond hope."
..."We don't know how well these kids can do until we give them every opportunity to do their very best," McCandless said."
PEDIATRICS - OFFICIAL JOURNAL OF THE AMERICAN ACADEMY OF PEDIATRICS

2012 Annual SOFT International Conference!

Support Organization for Trisomy 18, 13 and Related Disorder

St. Louis Gateway Arch

SOFT 2012 Conference – Another Championship Cause

26th Annual International Conference


Trisomy Awareness ~ Trisomy Celebration in Orlando

Caleb had Trisomy 18 and would have been 3-years-old on March 20. The term trisomy is used when there is an additional, or third, chromosome instead of two. For example, Trisomy 18 is the addition of a third, number 18 chromosome, and Trisomy 9 ...

New Prenatal Testing

*(update 4/2/12- they've locked up the article since our initial posting)

Here is article published on March 8, 2012 in the GenomeWeb Daily News. (abstract below). I have to wonder if these people are really interested in being able to test earlier to help parents or if they are really in it for the money. Imagine how many insurance companies must be thrilled at the fact that parents will be able to identify and abort these "costly" children. I am curious how many of you would actually have this test if you were to become pregnant again. Comment below and let me know.

Sequenom's Q4 Revenues Increase 12 Percent on Dx Services Gain

http://www.genomeweb.com/sequenoms-q4-revenues-increase-12-percent-dx-services-gain

NEW YORK (GenomeWeb News) – Sequenom today reported that its fourth-quarter revenues jumped 12 percent, driven by diagnostic services sales that more than doubled year over year.
The San Diego-based firm brought in total revenues of $15.5 million for the three-month period ended Dec. 31, compared to $13.8 million for the fourth quarter of 2010. It fell short of analysts' consensus expectation of $15.8 million.


Joyful Funerals

“But the difference between the Christian and the non-Christian is the hope we have in Jesus Christ. We want to show the world that we grieve, but that our grief is filled with hope in Christ.”
Wow just a another amazing article of how people are now celebrating life instead of mourning death. If you read to the end of the article they tell the story of a baby with Trisomy 13 that lived for nine hours.
This is what "Embracing Life" is all about.

Article from th Black Foot Journal

Check out this article that was published in the Blackfoot Journal. Another great Mom INSPIRED BY ANGEL.

Rewarded for dedication

Mom’s therapy for special needs child turned into a full career

BY TAMMY SCARDINO
tscardino@journalnet.com

BLACKFOOT — Patricia Farmer, a School District No. 55 administrator, entered the field of special education years ago after her son was diagnosed with trisomy 13 — a genetic disorder in which babies have three copies of genetic material instead of the usual two.