Down syndrome is a chromosomal disorder caused by an extra full or partial chromosome. No one knows for sure why this happens. But it is known that mothers in their 40s are at a higher risk to have children with Down syndrome than younger mothers. There are a few physical characteristics that set people with Down syndrome apart, such as almond-shaped eyes, small features, and curved pinky fingers. People with Down syndrome are also at higher risk for some medical problems. All people with Down syndrome have some mental retardation and developmental delays. However, experts say that it is important to remember that Down is a syndrome, not a personality — people with Down syndrome vary widely in their likes and dislikes, abilities and temperament. Often children with Down syndrome go to ordinary schools and go on to have jobs and full social lives. Though having a baby with Down syndrome can be a big readjustment in terms of what to expect out of your child, parents who have children with Down syndrome say, that while their children have some special needs, they are kids first and foremost, and on the whole they are more alike other children than they are different.

Children, Youth And Women’s Health
“Down Syndrome”

"Down syndrome is named after Dr John Langdon Down who first identified the syndrome in 1866. Down syndrome is caused by an extra copy of chromosome 21 inside each of the body’s cells. The extra chromosome causes certain physical characteristics (appearance) and affects intellectual development (thinking skills)."
…read the full article

Brain Foundation
"Down Syndrome"

"Babies with Down Syndrome have distinctive physical features, including a slightly flattened face, eyes slanting upwards, and slightly smaller ears, hands and feet. They usually have some degree of intellectual impairment, and may be developmentally delayed. They frequently have other health problems, such as hearing or vision disorders; hypothyroidism; or skeletal, intestinal or heart defects." …read the full article

Better Health
"Down Syndrome Explained"

"Down syndrome affects, but does not determine, development and achievement in a person. People with Down syndrome demonstrate a wide range of capabilities. What happens after birth will be far more important in shaping the outlook for a person with Down syndrome than the occurrence of the extra chromosome at conception." …read the full article

National Dissemination Center for Children with Disabilities
"Down Syndrome"

"Down syndrome is the most common and readily identifiable chromosomal condition associated with mental retardation. It is caused by a chromosomal abnormality: for some unexplained reason, an accident in cell development results in 47 instead of the usual 46 chromosomes. This extra chromosome changes the orderly development of the body and brain. In most cases, the diagnosis of Down syndrome is made according to results from a chromosome test administered shortly after birth." …read the full article

BabyCenter Australia ®
"Down Syndrome"

"As yet we do not know what causes the presence of an extra chromosome… What we do know is that no one is to blame. Nothing done before or during pregnancy can cause Down syndrome. It occurs in all races, social classes and in all countries throughout the world. It can happen to anyone. " …read the full article

Lucy is the mum I wrote about yesterday who was reported as desperately seeking a lover for her 21-year-old son with Down’s. But according to Lucy herself, the article I was working off had things a bit skewed. Yes, she supports her son’s right to have sex and to have a girfriend and is helping him look, but, she says, it’s absolutely not her in the driver’s seat. She also didn’t seek the publicity: it sought them based on a small section on relationships in a documentary about Otto’s life that’s being released soon. And the idea of visiting sex workers in Amsterdam came up between Otto and his friends—she wouldn’t disapprove, but he’d be paying himself, thank you very much.

I still harbour a little concern about his life being overshadowed by her mainstreaming activism. Lucy was certainly not letting him talk for himself (not, to be fair, that he had much to say, and I was cringing at the personal and stupid questions being asked of him. Would he rather have a girlfriend or go to a prostitute? Are you serious?). And there was a long debate on the show about people with Down’s becoming parents before anyone thought to ask Otto if he wanted to be a father. (Not really, at least not yet.)

But it does seem that the at least some if not most of the yuck factor may have been introduced in the telling. In the meantime, some of the discussions of sex and disability it has spawned could be useful perspectives for parents whose kids may face these issues later in their lives.

But even the most well-educated and comfortable parents of the most high-functioning Down’s children don’t generally go publicly soliciting for lovers for their (grown) kids.

Lucy Baxter, a UK mother of four and a leading advocate for the rights of those with Down syndrome, is the exception. She wants her 21-year-old son Otto to be able to lose his virginity—enough that she’s going public about it, asking women to step forward (and also admits considering hiring a prostitute). She also, in contradiction to some of the opinions on the right to procreate, thinks it would be great if he could be a father.

Yuck.

Not yuck to the idea that someone with Down’s might be a sexual being or even a parent (though I have concerns about the latter), or to the idea that we have to face the tricky question of when someone does or doesn’t have the mental capacity to consent to sex. I don’t even, under the right circumstances, think a prostitute would be awful.

No, just a big yuck that a mum is so desperate to prove her kid normal (and, dare I say it, make a political/social point) that she’ll violate his privacy and meddle in his life in totally abnormal ways by making his sex life (1) her business and (2) a cause celebre.

If this were a story about a mum who started a dating service for people with Down’s after seeing how depressed and lonely her son was, that would be something different. But least the way it’s being reported, Otto is certainly interested, but the urgency is coming from his mum. Take this quote: “If he doesn’t get a girlfriend, I will feel really bad, because I have sold him this thing that he is like everybody else.”

Because everybody else has lost their virginity by 21? And has a partner? And ends up having kids? (And if he’s just like everybody else, why would she prefer him to have a girlfriend who doesn’t have Down’s?)

Can you imagine if every 21-year-old who hadn’t yet gotten laid had their mothers getting in on the act?

Although there was great support for his cause, the family was dealt another blow when The Migration Review Tribunal (MRT) yesterday upheld the immigration department’s decision to deny Dr Moeller’s permanent visa application

Finally, by yesterday afternoon sanity prevailed. The Immigration Minister Chris Evans personally intervened and granted Dr Moeller and his family permanent residency.

[Source]

Dr Moeller, a internal medical specialist, moved his family to Horsham, in Victoria’s west, two years ago to help fill a doctor shortage.

It seemed ludicrous to many that he was invited to come here, yet not allowed to stay, although the local community still sorely needed his services. But still Dr. Moeller had to endure a stressful bureaucratic process to appeal his application rejection.

Senator Evans received Dr Moeller’s application for ministerial intervention this morning and approved it several hours later.

“It was clear to me that Dr Moeller and his family are making a very valuable contribution to their local community,” Senator Evans told the Senate.

“Dr Moeller is providing a much needed service in the area, the family have integrated very well and they have substantial community support,” he said, adding that “I’m pleased they have chosen to call Australia home.”

Isn’t it nice to read a good news story?

Sound implausible? Dr Bernhard Moeller answered a call from the Federal Government , and moved from Germany to become the small Victorian town of Horsham to become the community’s only permanent specialist physician.

Moeller formed strong bonds in Horsham and applied for permanent residency. But the Department of Immigration and Citizenship this week rejected the application because his 13-year-old son, Lukas, has Down syndrome and does not fit the bureaucracy’s health criteria – he had been assessed as a burden on Australian taxpayers and could not be granted permanent residency.

Never mind the fact that many people with Down Syndrome lead independent lives and even have regular jobs. Or that Dr Moeller has a large enough salary as a doctor to take care of his son’s health needs. No, beautiful Lukas (pictured above) has been labeled a ‘burden’.

Ironically, Dr Moeller and his family searched for the best place to raise a family and his wife, Isabella, said Australia was the preferred choice because of the support it offered disabled children.

The Horsham locals are outraged at the prospect of losing their only internal medicine specialist and residents rallied outside Dr Moeller’s practice yesterday, demanding the decision be overturned. As well as his private practice, Dr Moeller fills a key role at the Wimmera Base Hospital, which serves 50,000 people in the region.

“We are desperate for doctors in the country and the Government says we must get skilled labour from overseas,” said Business Horsham’s Andrea Cross.

“The decision to reject residency is crazy. He has a disabled child but we’ve got great support for him here.”

Crazy indeed. Let’s hope sanity prevails and the case is appealed to the Migration Review Tribunal.

Source.

“The results from your blood test screening — all normal?” he asked.

“We didn’t have the blood screening,” I said.

He looked at me in disbelief. “You didn’t have the test?”

When I was pregnant with our first child, John and I talked with my obstetrician about our options for genetic testing and screening. For a woman of thirty-two, like me, the risks of amniocentesis outweighed the chances it would detect a problem. I had conceived after a year of infertility treatments; I didn’t want another needle. And John and I had always felt that abortion wouldn’t be a consideration for us, anyway.

The other test, the one the radiologist asked about, was a simple blood test. It was not risky or invasive, but still just a screening test — it only provided a bit of statistical information about the likelihood of certain genetic abnormalities. The margin of error was high — it might miss a genetic defect completely, or provide a false positive for one that didn’t exist. John and I didn’t want inaccurate information to increase our anxiety or leave us feeling pressured to have an amniocentesis, and with my doctor’s support, we opted out of both tests. Our son Brennan was born healthy and strong. With this second pregnancy, I was thirty-three, still in a low-risk category for genetic abnormalities. We made the same decision.

The radiologist stared intently at the monitor. He rolled me onto my side and clicked tiny arrows on the screen, trying to get a particular measurement.

John and I had made the mistake of bringing one-year-old Brennan with us to the ultrasound. We’d expected the appointment and my follow-up with the obstetrician to be routine. We would learn the baby’s sex, and then have lunch and celebrate before John went back to work for the afternoon. By this point in the exam, Brennan was shouting emphatic protests and attempting to swing from the thin blue curtain that divided the room.

“Take him out,” I whispered to John.

“No way,” John said softly, holding my eyes with his before he looked again at the hazy image on the screen.

The radiologist said he wanted to have another doctor take a look. He stepped out and returned with a woman who squirted more warm gel on my abdomen and swept the sensor over me. They scrunched their faces close to the screen, manoeuvred and pressed my belly, and talked about me as though I weren’t in the room. Fingers clicked a keyboard. “I got the same thing you got,” the woman said cryptically. “Did she have the blood serum screening?”

“She didn’t have it,” he said.

“She didn’t have it?” she asked, her tone sharp. A minute later, she left.

I cleared my throat. “Just what is it we’re looking at?”

The radiologist looked at me, startled, as though he’d forgotten I was there. He offered a rapid-fire description of the flash of light on the screen and its implications. He told us that we were seeing an echogenic intracardiac focus, or EIF. It is a marker for Down syndrome, he said, though a notably unreliable one. He and the second radiologist had been struggling to get an accurate measurement of the baby’s nose, which, if short, would be another marker. That measurement, though, appeared normal.

“Is it a boy or a girl?” I asked him.

“Uh, girl, I think,” he looked at his screen again. “Yeah, a girl. Ninety-percent sure.” He finally met my eyes. “You’re taking this very well,” he said. “Most people get very upset by now.” He handed me a one-page printout on which he had scrawled at the top, EIF, and then he left.

I asked John to take Brennan out, and I shakily pulled my clothes on, desperate to get away from there. I had felt the tears coming, and panic, but Brennan’s presence in the room and, in some strange way, the radiologist’s ineptitude at handling the situation, had helped me to remain calm. Now I just wanted to get across the street and talk to my own doctor.

John and I looked at each other wide-eyed when we got outside. “What an ass,” I said. “Could he have handled that worse?”

“Let’s just talk to Dr. Shapiro,” John said.

Dr. Shapiro greeted us enthusiastically. My hand shook as I handed him the printout. He studied it and let out an exasperated breath. “What is this?” he pointed at the EIF scrawled across the top. “What’s that supposed to tell you? ‘My kid is an elf?’”

I laughed and my eyes filled with tears as I felt a release of the tension that seemed to have been pressing at me from the inside out.

Dr. Shapiro sat with us for a long time, asking and answering questions as we weighed whether to have an amniocentesis that would tell us for certain if the baby had Down syndrome. We talked again about the statistics: the risks associated with an amnio and the likelihood of Down’s. The numbers felt simultaneously meaningless and terrifying. One in two hundred means nothing, or everything, depending on whether you are that one. But while I had walked out of that ultrasound appointment afraid, I felt more fiercely protective of my pregnancy than ever.

“No one’s saying what we’re talking about here,” John said, finally, and I heard the stress in his voice.

“I’m saying it,” Dr. Shapiro said. He leaned against a counter, completely at ease, with the demeanor of a friend. He looked at me. “If you had a diagnosis of Down syndrome would you continue the pregnancy?”

“Yes,” I said without hesitation. John nodded, his eyes betraying the same certainty and fear I felt.

Dr. Shapiro nodded, and smiled. “Okay,” he said. He went on to say that some people have an amniocentesis in our situation because they wouldn’t want to continue the pregnancy. (Eighty to ninety percent of pregnant women abort when a diagnosis of Down syndrome is confirmed.) But others would have the test because they simply needed to know, to prepare themselves ahead of time rather than find out in the delivery room.

“Do you need to know?” I asked Dr. Shapiro. “Would a diagnosis of Down syndrome change my prenatal care?” He thought for a minute and then described what might be different. He might recommend more ultrasounds to check on the baby’s development. He said with Down syndrome there’s a higher likelihood that the baby would experience distress during delivery, so they would take that into consideration when planning, for example, whether to induce labour. He also told me that there’s a higher likelihood, with Down syndrome, of miscarriage or stillbirth. But learning the diagnosis ahead of time wouldn’t change that.

The baby probably didn’t have Down syndrome, and if she did, the only reason for us to find out right now was if we needed to know. We didn’t. We declined an amniocentesis and Dr. Shapiro scheduled a follow-up ultrasound. It didn’t feel like an exceptional decision, or a particularly brave one. It just felt right for us.

We told no one about the EIF. We barely spoke of it ourselves, and I managed not to think about it very much. I was consumed with caring for Brennan and working with a realtor to find our first house. When we finally found a place we wanted, in a neighbouring city, I felt a sudden surge of panic: Should I have been researching services for special needs children in one school system versus another?

“If we knew that we were going to have a baby with Down syndrome,” I asked John as we talked about the house, “would it change where we wanted to live?”

John looked back at me for a long moment. “If we have a baby with Down syndrome,” he said, “It will change everything.”

One sleepless night near the end of my pregnancy, I lay in bed with my heart racing, remembering that tiny star from the ultrasound. Were we kidding ourselves, pretending we could just take things as they came? I couldn’t calm myself, though I was desperate to sleep. I tried relaxing by tightening and releasing the muscles of my body one by one, beginning at my toes. I should pray, I thought. I should pray for her. But what did that mean? She was there, fully formed inside of me. I could feel her knees and elbows, her stubborn round head. I didn’t believe in a prayer that would change her genetic makeup; she had Down syndrome, or she didn’t. And so what would I be asking for, a different baby? I’d already chosen to have this one. I finally found peace, and sleep, with the thought, She is who she is. Already, she is who she is, and she is mine.

As we made plans for who would care for Brennan while I was in the hospital, I spoke of the ultrasound again, to my sister Megan. “Listen,” I said at the end of a long phone call. “I need to tell you something.” I told her, because if the baby was born with Down syndrome, I wanted someone to be able to tell our families we had known it was a possibility, and that we had made peace with it.

Liddy came into the world soon after, with myriad complications that did not include Down syndrome. She had a heart murmur caused by a congenital heart defect, swollen kidneys, an elevated white blood cell count (because she and I have conflicting blood types, which left her at risk for anaemia), and a deep dimple at the base of her spine that required ultrasound monitoring and an MRI to rule out other complications. Though these issues required a great deal of monitoring, they would ultimately resolve themselves. But Liddy also has severe gastroesophogeal reflux disease, a condition that made it difficult for her to gain weight in her first years and left her vulnerable to breathing problems.

Because of the reflux, Liddy slept for only forty-five minutes or an hour at a time her first months of life. She couldn’t tolerate the stroller, and her car seat made her more vulnerable to the reflux because it pressed her knees to her tender belly. She had to be kept straight and still for long periods after each feeding, and spent nearly all of her time in our arms. We lived our lives in thirty-minute increments — feeding, holding, soothing — while trying to manage Liddy’s hospital visits and ever-changing prescriptions, and take care of her brother, who was not even two. We’d moved to a new neighbourhood where we hadn’t yet made friends. John worked long hours at a new job and came home to find me completely unravelled at the end of each day. And then we would begin the long night, taking shifts holding Liddy, hoping for a few desperate hours of sleep.

We managed, but barely. We missed our friends. We missed each other. We felt, for a very long time, very much alone.

An amniocentesis would not have predicted Liddy’s complications, or prepared me for the realities of having a sick child. Caring for Liddy challenged my marriage, my family relationships, my friendships and my mental health — my very way of being in the world. John and I were naive. We would learn, through Liddy, the awe-inspiring breadth of medicine’s understanding, as well as the frustration and grief of its limitations — and of our own.

Liddy is now a feisty three-year-old who loves eating vanilla ice cream and wearing a monogrammed, pink-and-white-striped skivvy that’s two sizes too small. She bosses Brennan around and revels in the company of her imaginary cat, Juliet. Liddy still has reflux — she always will — but you would never know it to meet her, and it does not interfere with her eating or sleeping. Everything else has resolved itself. And she’s healthy, with hard-won little rolls of fat at her knees and ankles.

She is who she is, and she is mine.

Babies like Trig (pictured), who has Down syndrome, don’t really need
special care; they just need baby care for a longer period of time than other
children since their development is slower. For instance, many babies with Down
syndrome don’t walk or sit up on their own until they are two.

Breastfeeding–which is strongly encouraged for mothers of
babies with Down syndrome–is more difficult, since babies like Trig frequently
fall asleep and have less control of the muscles in their mouths. And frequent doctor visits are required throughout the childhood
of all special-needs children, as well as regular physical therapy and
pre-speech sessions.

Hmmm, think Palin will support universal healthcare?

Photo: USA Today