Saturday, April 27, 2013

New Clinical Trials Offer Hope for the Future of Those with Down Syndrome

When Dr Jerome Lejeune discoverd trisomy 21 in 1959, the cause of Down syndrome, he intended to focus research in how to prevent the third copy of chromosome 21 from causing the congenital defects associated with Down syndrome. Tragically, the science was hijacked by an an effort to 'prevent' birth defects, in which researchers paired the karotype of trisomy 21 with emerging technology of amniocentesis, and the first prenatal test came into being.
 Shortly thereafter, the first abortions of a babies with Down syndrome took place in the early 1960's while abortion was still illegal in many states.As it is today, these tests were billed as 'lifesaving interventions' when they led to the death of thousands of babies with Down syndrome. It seemed that science did not count those lost lives in calculating the value of prenatal testing.
 This horrified Dr Lejeune, who intented to improve the situation of the person with Down syndrome who at the time were consigned to lives lived out in dreary institutions where they were not educated, but merely warehoused.  He envisioned a similar supplement taken during pregnancy to mitigate the effects of Down syndrome on the developing baby.It was the same Dr Lejeune who helped bring attention to the efficacy of folic acid in preventing neural tube defects when taken in pregnancy, so he had every right to expect this.

 Instead the 'cure' was to kill the child through eugenic abortion, abortion done to certain babies because of their genetic diversity. And in its early days, this was touted as 'lifesaving' since previously, women were counselled to abort if they were close to forty simply based on statistics saying that their chances of giving birth to a child with Down syndrome was elevated (around age 40 the chances are around 1%, hardly high risk).
This begs the question;
What kind of medical intervention kills rather than cures the patient?
 Dr Lejeune said, "Again and again we see this absolute misconception of trying to defeat a disease by eliminating the patient! It's ridiculous to stand beside a patient and solemnly say, 'Who is this upstart who refused to be cured? How dare he resist our art" Let's get rid of him!' Medicine becomes mad science when it attacks the patient instead of fighting the disease. We must always be on the patients side, always."

No attention was given to helping mitigate the effects of Down syndrome in living children. It as considered impossible, and frankly, not worth the effort. Parents like me who chose to carry our babies with Down syndrome to term were told that the only 'solution' was prenatal search-and-destroy. The Final Solution. There was virtually no research being done in Down syndrome. Dr Lejeune was one of few researchers who was seeking a cure. He said, "I see only one way left to save them, and that is to cure them. The task is tremendous, but so is hope."
Now science has taken a different tack, thanks in part to parent advocacy and leaders like Dr Brian Skotko Pediatrician at Massachusetts General Hospital Down Syndrome Program, bioethicist Mark Leach,   Rep Cathy McMorris Rodgers, founder of the Congressional Down Syndrome Caucus, Down Syndrome Research and Treatment Foundation, and the Jerome Lejeune Foundation which supported the research I note below, and my own KIDS Keep Infants with Down Syndrome.  

Without their insistence that our kids deserve better than, immense and hopeful progress has been made. Now clinical trials of a new substance RG1662 in Roche Labs is showing great promise to improve the lifestyles of people living with Down syndrome. The National Catholic Register reports;
A cautious Roche spokesman, neuroscientist Dr. Luca Santarelli, said in a statement, “Our drug may offer a novel therapeutic avenue to treat the cognitive deficits in people with Down syndrome, enhance their communications skills and ultimately help them have greater independence in their daily lives.”

For the first time since Dr Lejeune's discovery in 1959 there is major scientific effort invested in saving the lives of those with Down syndrome, and maybe someday, when a woman faces a prenatal test which tells her that her child has an extra chromosome, she will have a positive response based on  hope for scientific discoveries like these,  rather than a fearful one based on outdated stereotypes.
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Monday, April 22, 2013

Making a Gift of Yourself: The "Blessed, Beautiful and Bodacious" Blog Tour

We still buy the lie. Women are told that if they want to be successful in the world, they have to be more like men, or like a how-to-succeed-in-business stereotype. Aggressive, detached from commitments; and self serving. No softness, no vulnerability, and certainly no thinking of others. We have to put ourselves first or we will never succeed and be fulfilled. Its in every women's magazine, in daytime talk shows, self-help books and on the web. We have to put off having children and getting married, putting our work lives in first place above all, before our marriage. That will bring us happiness, they promise.Women wait so long to get married that they often miss their opportunity to have children and pursue costly IVF procedures in a desperate attempt to 'have it all'.
We see this model of success at all costs in Hollywood, yet what do the biggest starlets long for, the ones who have it all, fame, money, the best roles, the perfect body and the enviably handsome man? They want time off from Hollywood to have children, to have a private life where they can devote themselves to those they love, their children and their husband.
That should tell us something.
The desire to be receptive to love and to give of ourselves completely in love is built into the female heart. It is the key to fulfillment as a woman, no matter what role you play in the world. Pat Gohn in "Blessed, Beautiful and Bodacious; Celebrating the Gift of Catholic Womanhood" takes the reader by the hand and gently talks to her inmost soul where these desires lie ignored, gently coaxing the reader into allowing her innate femininity flourish, and blossom into authentic womanhood.
Using down-to-earth, inspiring stories from her own life, Pat demonstrates how women can learn the ironic truth; that humility, receptivity and generous self-giving do not render us powerless, they are the keys to unlocking God's powerful grace in our souls. Pat describes how Mary is the quintessential example, she humbly received Christ into her womb by the most generous act of self-giving possible, and the world was forever changed as a result. The humblest "handmaid of the Lord" became the most revered and respected woman of all time "all geneterations shall call me blessed".
I was moved by Pat's honest personal stories of how she evolved from a "I am woman hear me roar" feminist to the authentically Catholic, happy, fulfilled, self-giving woman she is today. She overcame tremendous challenges in her life and, thanks to friends who built her up and mentored her, she grew in her ability to love and give of herself.
Its that warm mentorship which makes "Blessed, Beautiful and Bodacious" the must-read self-improvement book of the year.
 Here's a few words from Pat from Chapter Five: Making a Gift of Yourself. . Listen here.

Reflect and share on this phrase from Vatican II:
"Indeed, the Lord Jesus, when He prayed to the Father, "that all may be one. . . as we are one" (John 17:21-22) opened up vistas closed to human reason, for He implied a certain likeness between the union of the divine Persons, and the unity of God's sons in truth and charity. This likeness reveals that man, who is the only creature on earth which God willed for itself, cannot fully find himself except through a sincere gift of himself." (Gaudium et Spes, par. 24.)
Leave your comments below for a chance to win a copy of Blessed, Beautiful, and Bodacious.The drawing will be on April 26. 

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Tuesday, April 9, 2013

The Pope and a disabled boy teach lesson about love.

On Easter morning I was watching the Easter Mass with Pope Francis afterwards he rode around St Peter's Square greeting the crowd. He was shown a little boy with cerebral palsy and of course, he reached down, picked him up and held him for a minute, whispering into his ear and kissing him.The entire world was watching in awe of the beauty of this moment. 

 I was delighted to discover I knew that little boy, I just met the previous December him with my daughter Christina who has Down syndrome.              

Friday, April 5, 2013

Do you want to participate in Clinical Research Trials for Down Syndrome?

You can help advance the treatment of symptoms of Down syndrome. Click here and see what is being offered near you. I found a study at University of Rhode Island only 45 minutes away.

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Wednesday, April 3, 2013

Why our girls missed opening day at the softball field

I was a new mother adjusting to life with my third daughter who has Down syndrome in 2002. One of my first ventures outside the house was to my daughter's softball game. I brought my baby Christina in her infant seat in the stroller. I had little experience with public reaction to my daughter, but I felt very uncomfortable with the reaction of the women at the game. I never brought Christina back to the softball games, in fact I avoided them altogether, though I couldn't say exactly how she was rejected, a mother knows. Then, the next year my daughters, ages 9 and 5, weren't invited to enroll for softball.They never participated in their favorite sport again.
Seven years later, I met the wife of the girls softball coach. I didn't have the courage to ask her why my girls were excluded from softball, but she volunteered this story.

"My sister-in-law had made up her mind to abort her daughter with Down syndrome, and I tried to talk her out of it. A  few months after the abortion, she accompanied me to the softball game where you brought your daughter with Down syndrome. She felt so uncomfortable at seeing your daughter, I could never invite your girls to play on the team again."
I feel for that woman's pain, its obvious that she regretted her abortion, and made my family suffer because of it. How much better would she have felt if she gave birth to her little girl and gave her to one of many families seeking to adopt a child with Down syndrome?

if you don't want to raise your baby with Down syndrome, don't abort;
call the National Down Syndrome Adoption Network

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