https://www.nhs.uk/conditions/edwards-syndrome/

Edwards' syndrome (trisomy 18)

Edwards' syndrome, also known as trisomy 18, is a rare but serious genetic condition that causes a wide range of severe medical problems.  Sadly, most babies with Edwards' syndrome will die before or shortly after being born.  Some babies with less severe types of Edwards' syndrome, such as mosaic or partial trisomy 18, do survive beyond a year and, very rarely, into early adulthood. But they are likely to have severe physical and mental disabilities.

Cause of Edwards' syndrome

Each cell in your body normally contains 23 pairs of chromosomes, which carry the genes you inherit from your parents. But a baby with Edwards' syndrome has three copies of chromosome number 18, instead of two.  The presence of this extra chromosome in cells severely disrupts normal development.  Edwards' syndrome is rarely inherited and is not caused by anything the parents have done. The development of three copies of chromosome 18 usually happens at random during the formation of either the egg or sperm.  As this happens randomly, it's extremely unlikely for parents to have more than one pregnancy affected by Edwards' syndrome. However, the chance of having a baby with Edwards' syndrome does increase as the mother gets older.

Mosaic trisomy 18

Mosaic trisomy 18 can be a less severe form of Edwards' syndrome, as only some of the cells have the extra copy of chromosome 18, rather than every cell.  How severely affected the baby is depends on the number of and type of cells that have the extra chromosome. Some babies may only be mildly affected, while some can be severely disabled.  Around seven in every 10 babies born with mosaic trisomy will live for at least a year and, in rare cases, may survive into early adulthood.

Partial trisomy 18

In partial trisomy 18 only a section of the additional chromosome 18 is present in the cells, rather than a whole additional chromosome 18.  This type of Edwards' syndrome is more likely if one the parents has a minor alteration in their chromosomes, so blood samples are often requested from both parents to check for this and to help them understand the risks for future pregnancies.  How severely affected the baby is will depend on which part of chromosome 18 is present in the cells.

Symptoms of Edwards' syndrome

Babies with Edwards' syndrome can have a wide range of different problems.  Physical signs of Edwards' syndrome include:

    low birthweight
    a small, abnormally shaped head
    a small jaw and mouth
    long fingers that overlap, with underdeveloped thumbs and clenched fists
    low-set ears
    smooth feet with rounded soles
    a cleft lip and palate
    an exomphalos (where the intestines are held in a sac outside the tummy)

Babies with Edwards' syndrome also typically have:

    heart and kidney problems
    feeding problems leading to poor growth
    breathing problems
    hernias in the wall of their stomach (where internal tissues push through a weakness in the muscle wall)
    bone abnormalities such as a curved spine
    frequent infections of the lungs and urinary system
    a severe learning disability

Diagnosing Edwards' syndrome

During pregnancy

Pregnant women are offered screening for Edwards' syndrome between 10 and 14 weeks of pregnancy to assess the chances of their baby having the condition.  This screening test is known as the combined test, and it also screens for Down's syndrome and Patau's syndrome.  During the combined test you will have a blood test and a special ultrasound scan where the fluid at the back of the baby's neck (nuchal translucency) is measured.  Read more about screening for Edwards' syndrome at 10-14 weeks.  If the combined test shows that you have a higher risk of having a baby with Edwards' syndrome, you will be offered a diagnostic test to find out for certain if your baby has the condition.  This involves analysing a sample of your baby's cells to check if they have an extra copy of chromosome 18.  There are two different ways of getting this sample of cells chorionic villus sampling, which collects a sample from the placenta, or amniocentesis, which collects a sample of the amniotic fluid from around your baby.  These are invasive tests that do have a risk of causing a miscarriage. Your doctor will discuss these risks with you.  Later in pregnancy, usually when you are 18-21 weeks pregnant, you will also be offered a scan that looks for physical abnormalities, known as congenital anomalies.

Read more about the mid-pregnancy scan.

A newer test has also been developed that can be performed by taking a sample of blood from the mother, at 10-12 weeks, and testing the baby's DNA that is found within it. This is known as "non-invasive prenatal testing (NIPT)" and is currently available privately, but will be offered on the NHS from 2018.  The charity Antenatal Results and Choices (ARC) has more information about NIPT.

After birth

If doctors believe a baby has Edwards' syndrome when it is born they will take a blood sample from the baby. This will be examined to see if the baby's cells have extra copies of chromosome 18.

Making a decision

If your baby is diagnosed with Edwards' syndrome during your pregnancy your doctor will talk to you about how you want to move forward. They will discuss the options of either continuing with the pregnancy or ending it with a termination, as it is such a severe condition.  This is a very difficult situation and it is normal to feel a whole range of emotions. It may help to talk to your doctor, partner, family and friends about what you are thinking and how you are feeling.  If your baby is diagnosed with Edwards' syndrome, either before birth or afterwards, you'll be offered counselling and support.  You can also contact ARC, which has information about screening tests and how you might feel if you are told your baby does have, or might have, a problem.  ARC has a helpline that can be reached on 0845 077 2290, or 020 7713 7486 from a mobile, Monday to Friday, 10am-5.30pm. The helpline is answered by trained staff, who can offer information and support.  Read more about what happens when antenatal screening finds a possible problem.

Treating Edwards' syndrome

There is no cure for Edwards' syndrome and the symptoms can be very difficult to manage. You are likely to need help from a wide range of health professionals.  Treatment will focus on immediately life-threatening issues, such as infections and heart problems. Your child may also need to be fed through a feeding tube, as feeding is often a problem.  If limb abnormalities affect your child's movements as they get older, they may benefit from supportive treatment, such as physiotherapy and occupational therapy.  Depending on your child's specific problems, they may need specialist care in hospital or a hospice, or you may be able to look after them at home with appropriate support.

Advice for carers

Caring for a child with Edwards' syndrome is mentally and physically challenging. Most carers will need social and psychological support.  Your guide to care and support provides lots of advice on how you can take time to look after yourself, including:

    keeping fit and healthy
    getting a break from caring
    getting legal support and advocacy
    taking care of your wellbeing

You can also visit the SOFT UK website for support and more information on Edwards' syndrome, and to contact other families affected by the condition.

Information about your child

If your child has Edwards' syndrome, your clinical team will pass information about them on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).  This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.  Find out more about the register.

Page last reviewed: 7 September 2017
Next review due: 7 September 2020

https://www.telegraph.co.uk/lifestyle/10639359/Have-the-British-forgotten-how-to-grieve.html

Have the British forgotten how to grieve?
Some countries 'celebrate' the loss of a loved one, others have prolonged mourning rituals. In Britain, we rush back to work after the funeral. Have we got death all wrong?

By Clover Stroud
7:00AM GMT 20 Feb 2014

When my mother died in December I understood what it was to be grief-stricken, an apt description since losing her was like a physical blow. “Let your feelings out,” a friend said when I stood before her speechless, unable to articulate the enormity of what was happening.

“Do whatever feels right.”

It was heartfelt advice, but knowing what to “do” let alone how to go about it in the “right” way defeated me.  That the rest of the world was carrying on, regardless, seemed grotesque. How can traffic lights still change colour, I wondered as I went to register her death. WH Auden’s poem about grief, “Stop all the Clocks” “Let aeroplanes circle moaning overhead/Scribbling on the sky the message He is Dead” was suddenly an appropriate command to the world.

Planning and executing Mum’s memorial service brought me closer to the solemnity I found myself craving. I found it in her favourite hymns and prayers, which we read beside extracts from TS Eliot, Louis MacNeice and The Merchant of Venice. After the funeral, we had a party with more laughing than crying. And yet, I wanted more.  Grief, I now understand, is a sort of madness, in the same way that falling in love is madness. Evolutionary biologists believe our bodies produce stress hormones as a reaction to separation. “Grief in its most basic form represents an alarm reaction set off by a deficit signal in the behavioural system underlying attachment,” writes Prof John Archer of the University of Central Lancashire in The Nature of Grief. 

And yet, while we celebrate lovers, today we alienate the bereaved, treating grief as a private affair. I wanted a place to wail, light flares and chant incantations as old as the Earth, but got a distinct sense that society, at least, didn’t want me to behave like that. Was I right?

Should we be approaching death entirely differently and if so, how?

“Contemporary life isn’t big on ritual, even at those moments that can define us, like bereavement,” says writer and philosopher Jules Evans, author of Philosophy for Life and policy director for the Centre for the History of Emotions at London University. “This is a shame, as it’s hard to invent your own response to death. Ritual is comforting, enabling us to express something we struggle to put into words.”

According to new research by Dying Matters, a coalition working to get more people discussing death and bereavement, only 25 per cent of bereaved people across Britain feel supported following a death, while 32 per cent don’t feel their employer treated them compassionately.  Psychotherapist Ingrid Collins believes the ritualised grieving in more traditional cultures offers a solace we lack in our secular society. “They surround the bereaved with love and comfort, but we hurry through it, expecting people to be back at work after a couple of weeks. We want to soldier on regardless of the emotional cost.”

Soldiering on is a peculiarly English trait. The Victorians were the last generation to make a pageant of grief female mourners were even required to wear black underwear but clinging to elaborate public mourning practices during the First World War could have brought the country to its knees. Instead, the message that pain and grief should be packed away “in your old kit bag” was a powerful one.  In her book Death in War and Peace, Pat Jalland argues that Churchill’s propaganda broadcasts lauding the indomitable Blitz spirit were partly responsible for entrenching within our collective national psyche the sense that grief should be suppressed. It’s something we cling to, despite the psychobabble of the countercultural rebellion of the mid-20th century, when services like Cruse, the UK’s largest bereavement charity, emerged.  As a result, says Evans, grief has become medicalised, rather than accepted as an inevitable response to a universal human condition. “The human emotions engendered by ‘ashes to ashes’ or a requiem Mass have saved people from the pits of despair as often as modern psychiatry,” he argues.

Death terrifies us, since we have, as the historian Philippe Ariès argued in The Hour of Our Death, “banished it from our society”. “Animal slaughter has been shifted out of sight and human illness moved discreetly into hospital. Instead of accepting death as natural, medicine makes us think something can always be done to stave it off,” says Evans, pointing out that many of us never see a dead body until we’re adults.

But are cultures with more extended mourning rituals really better off?

If I’d been a Hindu would the elaborate process of building a funeral pyre been more comforting for me?

Would I have coped better if my mother’s funeral had been a community occasion, as it is in Japan?

“After my father died in October I was shattered, so following distinct steps about how to dress, eat, behave carried me along and absolved me of making decisions I wasn’t capable of,” says Abigail Cohen, who grieved according to the ritualised process of Jewish mourning called shiva.

After the funeral Abigail was confined to her house for a week, wearing a black funeral dress symbolically torn across her heart. Friends brought food, but she wasn’t obliged to speak. Instead she was “like a baby, in a role of complete surrender, protected from the world. My non-Jewish friends who’ve experienced loss are envious.”

In Irish communities, grief helps cement family relationships. “I’ve noticed a return to the tradition of ‘waking’ the dead, or laying out the body, in private homes,” says Rosa ­Corcoran, from Drogheda, whose grandmother was waked in a museum she founded. “The return of the old ways is a welcome response to years of treating grief with antidepressants.”

While we might have lost many rituals ourselves, multiculturalism means we’re surrounded by examples from other cultures. A Turkish friend tells me about cooking akibe sweets and helva with her mother to mark the 40th day of her brother’s death. “British people are embarrassed by grief,” she says. “In Turkey we know exactly how to behave, how to dress, even what we eat. This doesn’t make it less sad, but it does make the pain less disorientating.”

And yet, while it’s easy to point to the increasingly secular nature of our lives for the erosion of grieving rituals, it’s certainly nothing new. It began with the Reformation, when Luther abolished the Catholic practice of paying for Masses for the dead. By the 17th century, ritualised behaviour such as mourning gloves and funeral parties had expanded to fill the gap Protestantism created. Prof Douglas Davies, director for the Centre of Death and Life Studies at Durham University and author of A Brief History of Death, believes the Poor Law of 1830 was also significant in reinstating ritual, since it stated the bodies of those who died in penury could be confiscated for dissection by medical schools, a practice until then confined to criminals. “Elaborate funerals and a ‘good send off’ arose, as families didn’t want their loved ones treated like rubbish,” says Davies.

Funeral directors who, into the 20th century, were generally the local cabinetmaker and private insurance companies encouraging people to save for funerals emerged then. “Aristocrats had their crypts and mausoleums long before, but by the late 18th century the tradition of a showy funeral was emerging as a middle-class practice.”

The Victorians, inspired by Queen Victoria’s pathological mourning for Prince Albert, revelled in grief, with women wearing black capes and bonnets and glass lockets representing tears. As I stumbled through the days after Mum’s death, dishevelled in jeans and jersey, I couldn’t help feeling that this might have been rather comforting.  When I put this to Prof Tony Walter, director of the University of Bath Centre for Death and Society, he disagrees. “Many women hated the requirements of mourning, and by the late 19th century wanted to reclaim grief as a personal experience,” he tells me.

In her book Mourning Dress, Lou Taylor, professor of dress and textile history at the ­University of Brighton, argues Victorian mourning was actually about sustaining patriarchy, since a woman was expected to mourn longer for her husband or father than mother or baby. By the 1880s, the same upper-class women who were becoming suffragettes rejected what they saw as meaningless rituals subjugating them.  But where does this leave the bereaved today?

When Jo Smythe lost her five-year-old son to cancer, the internet became her lifeline. “It was such a relief finding people who had been through the same experience,” says Jo, a humanist, who channelled her grief into fundraising and volunteering at a cancer charity. “The support and guidance I found from real people online saved me, as I didn’t feel I could talk openly to anyone else about my son’s death.”

It was partly in response to this lack of dialogue about death that in 2011 Jon Underwood developed the first British Death Café, inspired by Swiss sociologist Bernard ­Crettaz’s tradition of café mortels. There are 537 cafés and 6,000 members worldwide, with 142 cafés in Britain. Anyone can join. In early January I sipped tea with two dozen strangers at Stratford upon Avon’s inaugural Death Café.  I found solace in the two hours I spent discussing the single event that unites us all. Some members were recently bereaved, others had lost a child decades before or were “interested in dying and grief, but don’t know where to talk about it”. Conversation ranged from the psychological price of grief to managing a terminal illness, to the merits of a Christian versus humanist funeral. Humanist funerals are slowly gathering momentum, from only 5,000 a decade ago to more than 15,000 today.  “Humanist funerals are often described as a celebration of life, since we emphasise the life you have now, not that of the spirit,” says Isabel Russo, head of ceremonies at the British Humanist Association.

To me this sounds stark, as grieving Mum’s death would have been much harder without my conviction I’ll see her again, but Isabel argues that humanists believe the dead continue to play a dynamic role in life. “While there is love or memory there, the relationship with the living goes on, and humanist funerals can be a brilliant way to mark this.”

Pat Winslow is a humanist celebrant, describing her favourite services as “a bit wild, although never disrespectful. One lady gave her father a coffin like a red toolbox, carried in a silver hearse. She wore a red wedding dress, with her children in her father’s clothes. It was joyous seeing grief experienced like this.”

Pat’s words remind me that while I had to forget the burning ship sent into the sea, there were other, contemporary rituals I could have picked. You can blast your loved one’s ashes into space, or have them made into diamonds. Facebook and the millions of photographs we take also mean there are endless ways to indulge in multimedia mourning.  Douglas Davies suggests that while these rituals around death might have altered, the emotional experience is unchanging across continents and through time. “History shows us people suffer in the same way with the death of a single child today as they would have done when several died in childbirth 200 years ago,” he says. The difference may lie in the fact death feels “unrehearsed, because we’re used to feeling like we’re masters of our own destiny, and suddenly we don’t know what to do”.

To illustrate the unchanging nature of grief, he points me to the epic Gilgamesh, perhaps the oldest written document in the history of mankind. On the death of his friend, Gilgamesh states, “I am afraid of death.” Gilgamesh “makes the same psychological journey you’ll read about in any contemporary self-help manual – his agony, his desire to set up a memorial, and his journey towards a conclusion,” says Prof Davies.

There’s something comforting and comical in thinking I share an emotional experience with Gilgamesh. And grief does change. I can walk though the days now, not stumble; waves of pain still hit me, but it’s not the storm-battered ocean crashing around me that it was in December. But while I want to go on remembering, because, as WB Yeats put it so well, “Lets talk and grieve/For that’s the sweetest music for sad souls,” now, I’m aware of a deafening silence.

https://www.sermoncentral.com/pastors-preaching-articles/ray-hollenbach-grace-is-a-divine-scandal-and-that-s-how-you-should-preach-it-2186?ref=PreachingArticleDetails?utm_source=newsletter&utm_medium=email&utm_content=button&utm_campaign=scbpu20190427&maropost_id=742347701&mpweb=256-7809230-742347701

Grace Is A Divine Scandal, And That's How You Should Preach It
By Ray Hollenbach on Apr 24, 2019

If you choose grace as a preaching topic, prepare to be misunderstood. It happened to the Apostle Paul; it can happen to you.  Preaching grace is really a dangerous act: is there anything more "irresponsible" than grace?

It’s the refuge of losers, the hiding place of the harebrained, the only hope at end of the line. How can people learn anything from grace when they are shielded from the fruit of their ways?

How can they grow into responsible adults if they are allowed to avoid the shipwreck of our poor choices?

Sometimes it may be tempting to preach about the predictable world of choice and consequence. Consequence is the lever of choice, tilting upon the worldly fulcrum of cause and effect; sowing and reaping are the dependable laws of nature, and we can find passages of scripture to preach on them. Karma chants responsibility: “Choose, and eat the fruit of your choice.”

As pastors we are tempted to wonder, how can people mature apart from learning the mathematics of choice and consequence?

To look at grace from the outside is to see someone getting off scot-free. The work of grace is the spoiling of an only child. Grace runs counter to good stewardship. Grace is the foolishness of giving a field hand a full day’s pay for but a few hours work.  Oh, but from the inside to taste of grace is to drink the water of life. It’s the meal without the tab; the drinks are on the house. Grace is more and better wine even though the guests are tipsy. Grace is calories that somehow don’t count. Karma is the voice of reason; grace is the voice of love.  But reason cautions us. This makes grace even more dangerous; the unscrupulous can figure the con quickly. Grace can be abused, grace can be played the fool, grace can be wasted but grace doesn’t care. Grace is the divine scandal. Grace is the way of Heaven, where mercy triumphs over judgment not that judgment is unknown but rather tried and found wanting.  Help your church get connected.

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Simone Weil said there are but two forces capable of moving the human heart: gravity and grace. Gravity, the great force of nature, exerts its unstoppable influence from the outside; grace, the beautiful power of super nature, floats on air.  And here is our dilemma: we discover that people want grace for ourselves, but choose karma for others. Grace seen from the outside is how rogues get off scot-free. Grace seen from the inside is the spring of life. The trick is to help our congregation see grace from the inside on behalf of others. Grace is more than a gift; it is the example of Heaven. Grace is the way, the truth and the life. Grace calls us not only to taste and see but also to come and follow.  The grand goal of grace is that we would not be mere partakers, but we would become the servants in its grand banquet. Grace calls us to fill the glass of every thirsty soul. As preachers, we should echo that call.

Got the Right Compass?
Mar 21, 2019 | Mary Southerland

Today's Truth

For the word of God is alive and active. Sharper than any double-edged sword, it penetrates even to dividing soul and spirit, joints and marrow; it judges the thoughts and attitudes of the heart.  (Hebrews 4:12, NIV)

Friend to Friend

In 1804, the British ship HMS Apollo was leading a convoy of 69 merchant vessels to the West Indies on a route that put them parallel to the coasts of Spain and Portugal, about a hundred miles from land. A storm  arose on Sunday, April 1. Even though it was April Fools’ Day, the captain was unconcerned because his compass assured him he was well into open sea. But in the wee hours of the morning, the ship wrecked against the jagged rocks of the coastline.  Jolted from their hammocks, the crew ran to their posts and tried to save the ship from the cold sea. The waves crashed over the hull, flooding the ship from above amid the screams of shipmen still below.  As night gave way to dawn, the surviving crew were amazed to find themselves not a hundred miles from land, but wrecked against the Portuguese coast, which was littered with the debris from many of the other ships in their convoy. Of the sixty-nine vessels traveling with HMS Apollo, forty were wrecked, some with total loss of life. It was one of the greatest disasters in the history of British maritime shipping.  The captain of HMS Apollo faced court-martial, but he was acquitted when it was learned that the fault was not with him but with the ship’s compass.  Because the Apollo had taken on a large iron tank, the magnetism of the compass was thrown off just a little just four degrees and the error accumulated day after day. As leader of the convoy, the captain had unwittingly led the others to shipwreck because his compass was defective.  Unfortunately many of us are living shipwrecked lives because of a defective compass. The Bible is the only compass we can count on for accurate and precise directions that enable us to navigate the treacherous waters of everyday life with confidence.  Romans 10:17 “Faith comes by hearing and hearing by the word of God.”

We can always trust the Word of God. If that is true, then why do we constantly doubt God?

When a storm hits, why does our default emotion tend to be fear instead of faith?

You may have heard the familiar old Chinese saying, “There is a good dog and a bad dog fighting within each of us. The one that is going to win is the one we feed the most.”

The same is true when it comes to faith and doubt. We weaken our doubt by strengthening our faith in God. The Word of God feeds the new nature God gives us when we surrender our lives to Him. As that new nature grows stronger, the old sinful nature becomes weaker and as that old nature becomes weaker, our faith in God grows stronger.  A steady diet of the Word produces a strong faith. Read the Bible each day. Memorize a verse of Scripture each week. The more of the Bible you have in your heart and mind, the stronger the compass of His truth grows.  Now is the time. Check your compass.

Last week a little girl came home from school and approached her mother: "Mom, some of the kids at school today said that you were the Easter Bunny. Is that true?"

The mom kneeled down by her daughter and said, "Do you really want to know?"

"Yes" the girl replied.

The mother sighed, thinking of the end of the innocence of childhood, "Yes, dear, I am the Easter Bunny."

The little girl looked at her in amazement, "How do you get to ALL of those houses???"