Downsyndrome.com

David Betts and his wife Cheryl didn’t even have time sit down in the paediatrician’s office before he had told them: “Your daughter has Down’s syndrome.” As they stood in shock, they waited for a word of sympathy, some information about the condition or a more detailed prognosis.

None came. “We left his office and went to sit outside, thinking someone would come along soon and tell I us something,” David recalls. “But no one talked to us, so we got up and left. We were totally devastated and didn’t know what to do, so we went home and decided to read up on it.”

Worse was to come when the couple, from Lowestoft, Suffolk, took their baby to a paediatrician at the local hospital. “She had very Victorian attitudes and just kept referring to my daughter as a mongol,” David says. “She said, ‘Well, she’ll never be a brain surgeon or a ballerina,’ and seemed to imply that she would be better off in an institution.”

Nine years on, and Aymee Betts is a happy, healthy girl who swims for the local club, goes to a mainstream school and enjoys gymnastics, trampolining and drama classes. “She is fantastic,” says her proud father. “She’s invited to all the children’s parties and she reads like a speed reader.” But he has never forgotten how he and his wife were treated by medical professionals.

Sadly, their experience is not unique. A report by the Down’s Syndrome Association (DSA), due to be published next week, shows that many doctors still get it wrong in communicating with parents.

Two-thirds of Down’s cases are now picked up by pre-natal testing, so parents are informed at about the 20-week stage. The DSA survey found that two-thirds of parents were given their test results over the phone’ many were on their own, some were at work. Less than half were given any written information about Down’s, and only half were told about local support groups.

This may explain why 92 per cent of parents opt for a termination when told their unborn child has Down’s. The report highlights the case of Lisa Green, advised to have an abortion at 35 weeks after tests showed her baby had Down’s. She refused, and her son is a happy, healthy toddler despite having the condition.

Because of the risk of miscarriage associated with the amniocentesis procedure, some parents opt not to have the test and only make the discovery at birth. They too encounter a lack of care and counselling. While the DSA survey found that more health professionals are getting it right, 37 per cent of couples were given no written information at diagnosis. Four out of 10 said they were given no practical support, such as details of local groups.

The DSA report makes several recommendations, including asking parents how they want to be told the results of tests and ensuring that every maternity unit has a local volunteer who has a child with Down’s syndrome who can be contacted.

Marie Benton of the association says: “Things have got a lot better in recent years and some cases are really good examples of best practice, but parents are still not being given all the information they need.

“The way in which parents are told can make all the difference to the decisions they make pre-natally and how they cope with a diagnosis afterbirth.”

Patrick O’Brien, consultant obstetrician at University College Hospital in London, agrees. But he says the range of problems experienced by children born with Down’s can make it difficult to make a balanced explanation to parents who are already in shock. “It can go from children who have very mild problems to those with severe mental and physical problems,” he said. “Prenatal scans can give an idea of the physical defects but we can never tell how badly a child is going to be affected mentally. You can tell parents 10 positive things, but the one negative thing is, understandably, the one that sticks in their heads.

“I do think most hospitals now have very good counselling and information for parents, and junior doctors now get a lot more training in this area than they used to.”

He said many parents are given the results of pre-natal tests over the phone simply because they are desperate to know the outcome as soon as possible. “It can be even worse for them if we say we have the results, then they have to drive to the hospital, wait and come in to hear them. Even if they are told over the phone, we now make sure a follow-up appointment is arranged as soon as possible to discuss in great detail what the diagnosis means.”

Benton says that one problem with the way in which parents are dealt with post-natally is that fewer children are born with the syndrome now. “Many maternity units may see only one or two cases a year, so they are unsure how to cope with the parents. Sometimes staff actually go in the opposite direction from negativity and tell parents that they have been ‘blessed’. It may be from the best of intentions, but that doesn’t help either. Training can help, but what we have found is that a lot of parents just want to talk to someone else in the same position.”

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Sir: Once again Dominic Lawson has come to the defence of those who have Down’s syndrome (Opinion, 23 May).

It seems now to be a recurring theme emerging from some sections of the medical establishment that those who are born with Down’s syndrome are really not wanted and are a drain on the public purse’ much better that they should never have been born in the first place.

Such attitudes are based mainly on the myth that people with Down’s syndrome can never have aproper quality of life. People with Down’s syndrome are entirely capable of having what we would understand to beagood quality oflife, definedby achiev-ing satisfactory personal goals, makinga wide range of friends, holding down ajob contributing to the well-being of others and by and large makingsome sense of the environment that surrounds them.

My own daughter, who is 13, attends her local mainstream secondary school, has danced at the Irish Dance World Championships, and is being coached at one of Liverpool’s swimming clubs. We are proud of her achievements, as is she herself. And, yes, some of those achievements have been under pinned by support from the public purse, but isn’t that a measure of a civilized and compassionate society?

People with Down’s syndrome have come a long way since being regarded as ineducable mongols. It would however seem that influential sections of our medical establishment still regard them as such, and seek to influence the choice of prospective parents by presenting this as the reality.Thanks to Dominic Lawson for challenging those outdated views.

JOHN HOGAN

LIVERPOOL

Copyright 2006 Independent Newspapers UK Limited
Provided by ProQuest Information and Learning Company. All rights Reserved.

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Restless Legs Syndrome (RLS) is a medical condition characterized by unpleasant sensations in the legs, including burning, tugging, and tightening, and feels "like insects crawling inside the legs," according to the National Institute of Neurological Disorders and Stroke (NINDS).

Although experts have known about RLS for years, a broader lack of awareness appears to have severely limited diagnosis of the condition. A survey conducted by the Restless Legs Syndrome Foundation (RLSF) not only found that more than half of those who responded had never heard of RLS, but also found that many did not fully understand the impact that the condition can have on daily life.

"RLS is sometimes described as ‘the most common condition you’ve never heard of,’" says Georgianna Bell, executive director of the RLSF.

The abnormal sensations (paresthesias) or unpleasant abnormal sensations (dysesthesias) often range from uncomfortable to irritating and painful.

The NINDS says that some researchers estimate that RLS affects as many as 12 million people in the United States. However, others estimate a much higher occurrence because RLS is thought to be underdiagnosed, and, in some cases, misdiagnosed. There are a number of people who don’t seek medical attention, because they believe that their concerns will not be taken seriously, their symptoms are too mild, or their condition is not treatable.

In May 2005, the Food and Drug Administration approved the first drug treatment for RLS for which the cause is unknown (idiopathic). Called Requip (ropinirole), the drug is specifically labeled for the treatment of moderate-to-severe symptoms of the condition. According to the RLSF, the FDA’s approval of Requip represents a significant step forward in patient care. "It is our hope that the millions of people suffering from RLS will benefit from this increased awareness and will more easily find the help they need," says Bell.

People with RLS feel uncomtbrtable sensations in their legs, especially when sitting or lying down, accompanied by an irresistible urge to move about. The NINDS says that these sensations usually occur deep inside the leg, between the knee and ankle. More rarely, they occur in the feet, thighs, arms, and hands. Although the sensations can occur on just one side of the body, they most often affect both sides.

Because moving the legs, or other affected parts of the body, temporarily relieves the discomfort, people with RLS often keep their legs in motion to minimize or prevent the sensations. They may pace the floor, constantly move their legs while sitting, and toss and turn in bed.

The most distinctive or unusual aspect of RLS is that lying down and trying to relax actually activates the symptoms. As a result, most people with RLS have difficulty falling asleep and staying asleep. The NINDS says that left untreated, the condition causes exhaustion and daytime fatigue. Many people with RLS report that their jobs, personal relations, and daily activities are affected as a result of their lack of sleep. They are often unable to concentrate, have impaired memory, or fail to accomplish daily tasks.

What Causes RLS?

The cause of RLS, in most cases, is unknown. A family history of the condition is seen in about half of these cases, the NINDS says, suggesting a genetic basis for the disorder. In some cases, RLS appears to be related to chronic medical conditions, including low iron levels, severe kidney disease, and peripheral nerve diseases–referred to as "secondary forms of RLS." These secondary forms can also be associated with pregnancy and the use of certain medications.

Researchers also have found that caffeine, alcohol, and tobacco may aggravate or trigger symptoms in people who are predisposed to the development of RLS. The reduction or complete elimination of such substances may relieve symptoms, but the NINDS says that it remains unclear whether either can prevent RLS symptoms entirely.

NINDS researchers are investigating the possible role of dopamine function in RLS. Dopamine is a chemical messenger that carries nerve cell signals in the brain that control body movement. When the dopamine system does not function properly, it may upset the normal communication of these signals. Researchers suspect that impaired transmission of dopamine signals may play a role in RLS.

RLS was first fully described in a paper published in 1945 by a Swedish neurologist. Although he did not call the disorder RLS, the neurologist characterized the condition as having sensory symptoms and motor disturbances of the limbs, mainly during rest.

Who Has RLS?

Men and women experience RLS, but the incidence may be slightly higher in women, the NINDS says. The syndrome may begin at any age, even in infancy, but most people who are severely affected are middle-aged or older. In most cases, the severity of the disorder increases with age, but there are exceptions, like that of Benjamin Brown.

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