RAISING JOEY

Six years ago, I didn’t feel blessed. Lucy, my first grandchild, my daughter’s child, was 12 hours old when we learned she had Down syndrome. We wept. Three days later, we were told she had holes in her heart and would need surgery. We took her home and fed her and held her and rocked her and sang to her. And we prayed.

Fear consumed us then. We worried about her health. Were her lips blue? Was she sweating from exertion or was the room too warm? We worried about her future. Would she walk? Would she talk? We worried about our future. Would the stress of all this worry pull our family apart?

Heart surgery. And we almost lost her. Then more heart surgery and, again, a crisis. Blessed? The word never crossed my mind.

Then slowly things got better.

If only life were like a book and you could peek ahead. Lucy will be 6 on Saturday. If only, when she was new and we were scared, we could have had a glimpse of Lucy now.

When she was little, 2, 3, maybe even 4, she used to practice talking in her crib. Away from everyone, she would chatter, naming things, her stuffed animals, the toys in her room, the people in her books and in her life. Over and over, she’d say Mommy, Daddy, Adam, Mimi, cow, duck, cat, and every other word she knew.

She was quieter in front of people, shy until she got a word right.

It took time, but she got them right. This is Lucy. Give her time and she’ll amaze you.

These are things about her now that I never could have imagined then: that her favorite movie would be “Gone With the Wind.” That she would know all the characters, except for Sue Ellen. (”Who’s that?” she asks every time Scarlet’s sister comes on the screen. Poor Sue Ellen - forgettable even to a child.)

That she would always race to the door to greet her mom and dad, dropping whatever it is she is doing to hug them, to tell them with her smile and her open arms - even if they’ve been gone just 10 minutes - how glad she is to see them.

That she would love the “peace be with you” moment in church. That she would say “peace,” reach for hand after hand, look into a stranger’s eyes and smile. And that even the most reluctant hand-shaker would smile back.

And that she would love our neighbor Al, and seek him out in his yard, in his house, in my house. “Al! Al!” Katherine, his wife, the one who makes her favorite cookies, but Al the one who has her heart.

It’s not all roses of course, with Lucy. She doesn’t understand that the street is dangerous and that you can’t sit down when you’re an outfielder and that the DVD player sometimes sticks and whining doesn’t unstick it.

In these ways she is a lot like a typical 6-year-old.

But she is not typical.

It takes her longer to learn and longer to understand. But when she does? It’s like the circus has come to town. She says a whole sentence “I want to have a banana, please.” She puts together a puzzle. She matches colors and shapes. She climbs to the top of the slide, sits, and glides down. She stands at the window and reenacts a scene from “The Little Princess.” The Wallendas doing headstands on a tightrope couldn’t thrill us more.

Sometimes when I watch children her age do things effortlessly, my heart aches a little. But then Lucy will saunter by, climb on my lap, or say hi and keep on walking, and I will be bowled over by her presence, by the amazing gift of her.

How blessed I am. How lucky to be loving her. And how easy she is to love.

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ROCKFORD — Haley Nunez is funny, spirited, independent and popular. Just ask the 19-year-old recent East High School graduate. She’ll tell you. But she says it in a way that’s genuine. She’s not bragging.

She loves the Jonas Brothers and talking about boys; typical teenage chatter. But she has had a different life from other graduates.

Haley has Down syndrome, a common genetic disorder where a child is born with 47 rather than 46 chromosomes, resulting in developmental delays, mental retardation, low muscle tone and other possible effects.

Ed and Debbie Nunez were thrilled to have Haley, but their emotions flipped when they learned she had Down syndrome. “We went from the cliff to the valley,” Ed said.

Raising Haley was just like raising any other child. The new parents took Haley everywhere and exposed her to all aspects of life, not sheltering her or holding her back from judging eyes.

“We kind of just flew by the seat of our pants,” Debbie said.

When it came time to attend school, Haley tried private school, then transferred to the Rockford School District. Some teachers thrived with Haley, and she had her own aide in the regular classroom. In middle school, Haley was too high-functioning for a special-education room, but needed more help than regular classes could offer. She muddled through, but high school was a turning point. Her parents chose East High School based on several recommendations from other parents.

An upstairs room of their Hebron home has been turned into a puppy-themed nursery, its shelves filled with baby books and stuffed animals.

Elizabeth Miller, who is six months pregnant, and her husband, Scott, already know their child’s name, which they’ve spelled out in large letters on the wall nearest the crib: Elijah.

The first-time parents also know this: Elijah has Down syndrome.

“I think the most common reaction from people is, ‘Oh, I’m sorry,’ ” said Scott Miller, 29, a customer service manager for a gearbox manufacturer. “We don’t want people to be sorry, because we’re going to finally have our baby.”

“For me, the (diagnosis of) Down syndrome was more of a relief,” said Elizabeth Miller, 28, a preschool teacher who previously suffered two miscarriages. “This baby’s going to live. We’re going to be OK.”

The Millers are preparing to welcome Elijah into the world just as the Down syndrome community locally and nationally reaches a pivotal point.

Each year about 5,000 children in the U.S. are born with Down syndrome, which is caused by an extra chromosome.

But some advocates worry that new prenatal diagnostic tests could increase the likelihood that expectant parents will abort such pregnancies. And a dwindling population might mean fewer resources and services.

“The most recent studies suggest that between 80 percent and 90 percent of (U.S.) mothers who receive a definitive diagnosis of Down syndrome prenatally will choose to terminate the pregnancy,” says Dr. Brian Skotko, a physician at Children’s Hospital Boston who serves on the National Down Syndrome Society board.

Those rates likely are not as high in more conservative regions such as the South and Midwest, including Cincinnati, experts say.

Underpinning those numbers are two studies by Skotko, released in 2005, that found obstetricians and genetic counselors often provide inaccurate, incomplete and sometimes offensive information when delivering a prenatal diagnosis of Down syndrome to expectant parents. Mothers who were surveyed reported that doctors often didn’t tell them about the positive potential of people with Down.

“We’re not saying to paint a rosy picture, but we’re saying you have to give both sides of the story,” said Janet Gora, executive director of the Down Syndrome Association of Greater Cincinnati. Children born with Down syndrome are at high risk for a number of medical problems, including congenital heart defects, as well as developmental delays and learning disabilities.

But people with Down can lead full, productive lives. Many graduate from high school; some go on to college.

Technological advancements have afforded many benefits to the pro-life cause. Ultrasound imaging has revealed the child in the womb as a living, feeling human being, and at earlier stages than previously thought possible. The widespread use of such technology helps explain significant shifts towards the pro-life position — both in sentiment and in deed, especially among young Americans — over the last fifteen years.

But medical technology has had some negative effects, too, especially for unborn babies with disabilities. Ultrasound imaging is routinely employed to discern genetic abnormalities in unborn children and to end the lives of those who fail to meet the standards of a culture that increasingly views genetic perfection as an entitlement.

This month, Sequenom, a company that makes genetic analysis products, was set to release a new genetic test for Down syndrome. The test, called SEQureDX, has been hailed by some as “the Holy Grail of genetic testing,” because it is safer and more accurate than any previous prenatal genetic test. But once it hits the market, SEQureDX may become known for something far less inspiring: as a leading tool for the elimination of an entire class of people.

Currently, prenatal genetic testing involves a combination of blood tests and ultrasounds to determine whether an unborn child faces significant risk of having a disability. Some women undergo further testing to confirm or rule out a diagnosis. The most common test in amniocentesis, in which amniotic fluid is extracted from the amniotic sac surrounding the baby. Fetal DNA in the tissue contained in the fluid is then examined for genetic abnormalities.

But many women eschew amniocentesis. Not only must amniocentesis wait until the second trimester of pregnancy, but it also carries a significant risk of miscarriage (as high as 2 percent) and risks causing fetal abnormalities, pre-term birth and fetal trauma.

The new tests, including SEQureDX, are less invasive, more accurate and can detect a broader range of fetal conditions with more sophisticated blood tests that examine a baby’s genetic information in DNA that circulate in the mother’s bloodstream.

The famed Boston scientist Judah Folkman puzzled over the question for decades, since encountering it on an exam as a young medical student.

Now, 17 months after he died, researchers in his lab at Children’s Hospital Boston have found an answer, and their discovery could provide a beacon to scientists developing treatments and preventive medications designed to be broadly effective against cancer, wherever it resides in the body.

The scientists discovered that the extra chromosome carried by people with Down syndrome - which causes the condition’s distinctive features - harbors a gene responsible for starving tumors of the blood they need to survive and flourish.

That had been Folkman’s suspicion all along.

“Most people don’t appreciate the fact that these individuals with Downs potentially hold a secret that might lead to quite substantial and revolutionary new treatments for cancer,” said Dr. David Sweetser, who treats patients and researches cancer at MassGeneral Hospital for Children but was not involved in the Downs project. “The obvious hope is that this is going to give us information to help develop a tool that we could use to treat a whole variety of solid tumors.”

In many respects, the discovery, detailed last month in the journal Nature, is a textbook example of scientific serendipity.

As a junior researcher, Sandra Ryeom wanted to better understand a protein called calcineurin - and, more specifically, what controls its activity in humans. It was a subject of intense interest because the protein plays a sometimes lethal role in causing transplanted organs to be rejected by recipients.

Six years ago, Ryeom and other scientists identified the genetic mechanism that acts like an on-and-off switch for calcineurin.

“At that point,” Ryeom said, “it was not looked at in terms of cancer, blood vessel growth, or Down syndrome.”

That changed soon enough when Ryeom recognized where that gene lives in the human body: on chromosome 21. That is the same chromosome that exists in triplicate in people with Down syndrome. Most people inherit chromosomes in pairs. But it is the third chromosome 21 that produces the external physical features and internal medical problems associated with Down syndrome, including heart defects, respiratory problems, and Alzheimer’s disease.

At the same time, experiments were showing that the gene had a significant effect in stanching the growth of blood vessels that nourish tumors.

It was like watching the pieces of a puzzle assemble: Could this gene, found on the same chromosome that defines Down syndrome, be especially bountiful in people with Down and, thus, responsible for depriving tumors of what they need to grow?

Epidemiologic studies of thousands of people with Down syndrome - there are more than 400,000 in the United States - have shown they are less than 10 percent as likely to die from solid tumors as their comparably aged peers, and that has remained true even as scientific advances allow people with the syndrome to live deeper into adulthood. Curiously, though, Down syndrome appears to increase prospects of being diagnosed with leukemia, a blood-borne cancer.