Birth of a Baby
There are various physical signs that may alert the midwives and doctors. Babies with a chromosomal abnormality often have a low birth weight, low set ears, heart and eye defects and unusual palm and fingertip patterns.
How soon can a diagnosis be made?
‘When my daughter with trisomy 18 was born I knew there was something wrong. Unlike my other two children she wouldn’t go to the breast, she was sleepy and floppy with her two hands tightly clenched.’
The following problems may also be present in trisomy 13 or 18: abdominal defects (omphalocele); cleft lip and palate; back of head enlarged (occiput); clenched fists, undeveloped nails and overlapping index fingers; club/rocker bottomed feet; spina bifida; spine defect (meningomyelocele); defects of the scalp, diaphragm, lungs, kidneys and ureter; small mouth and jaw; joint contractions (arthrogryposis).
‘I was surprised and horrified when baby Leah was born with trisomy 13. At first only her cleft soft palate and club foot were evident and I thought that was disastrous enough. Little did I realise the complexity of the syndrome.’
‘When I came round after the section, the doctor told us they suspected a syndrome because Jonathan had low set ears, his heart seemed on the wrong side, there were respiratory problems, he’d been blue, he had a short sternum, foot defects and dislocated hips.’
‘Sophie weighed 4lbs 12oz and had trisomy 13. She had extra fingers and a cleft palate.’‘Beth had eye defects, a heart murmur and low set ears. She had only one crease on the palm of her hand and clenched her fingers over her thumbs.’
‘Our son had a scalp defect measuring one inch in diameter and it was repaired at 2 days old.’
When a baby is stillborn or dies shortly after birth
Babies with a severe chromosome abnormality may suffer from major medical problems and be stillborn or die shortly after birth. After delivery some babies can need resuscitation and oxygen before being able to breathe unaided and the nature of this should be discussed beforehand. Parents may decide strenuous resuscitation is not appropriate.
See section about bereavement
‘Even though Amy had died before she was born, she is precious and still an important part of our family. The fact that I was given time to be with her and hold her has always been vital in enabling us to think of her as a real person’
'When my son was stillborn I was so upset I didn’t want to see him, but the midwife handed him to me in a shawl. The things he had wrong didn’t matter any more. The baby was our son and we cuddled him together for as long as we wanted and kissed him goodbye. Those moments are now treasured memories.’
When a baby lives
Parents are shocked and suffer a ‘bereavement’ when they first realise something is wrong with their baby. Without being unrealistic the facts should be shared with compassion and sensitivity and the family need to mourn the loss of the ‘healthy child’ of their hopes and dreams.
Everybody feels helpless when a life-threatening chromosome defect is confirmed and parents want to know how long their baby will live. About 10% of children with the full trisomy 13 and 18 live beyond the age of twelve months, but children are not statistics and in many circumstances accurate predictions of life expectancy are not possible.
‘Paediatricians diagnosed Patau’s syndrome when Freddy was born. They told us an extra chromosome 13 was not compatible with life and our son died shortly afterwards.'
‘We were told beautifully and fully by a very sympathetic geneticist when our son was 2 weeks old. Our paediatrician saw him once a week until he died at home from kidney failure aged five and a half weeks.’
‘When she was diagnosed they said that she would only live for 8 weeks. We were in such a rush to get her home, we didn’t really know how hard it would be, but figured we could manage to make her short life the best in the world.’
‘A consultant told us some hours after Sophie’s birth she would not live long. I nursed her at home until her death at 11 months. Looking back I would have liked to know she could have lived as long as she did, rather than be told she would die soon.’
‘Trisomy 18 was confirmed in the first week and we were told there was little help for her. When she was 15 days old we brought her home to feel the love of her family and she is now 5 years old.’
The outlook for babies with other chromosomal abnormalities or related disorders such as partial trisomy or mosaicism may be much more hopeful and the effect may be mild, moderate or severe, depending on the precise nature of the chromosome disorder. A clinical geneticist and the baby’s paediatrician can explain how the development of the baby may be affected.
‘Frequency of occurrence, gaps in medical knowledge and lifespan of babies combine to invalidate previous statistics.’
Dr John Carey - SOFT USA
Special care in hospital
Some babies require the facilities of the Special Care Baby Unit only until breathing and feeding are established. These babies are then transferred to a ‘baby ward’ and may be able to go home when hospital nursing is not required.
‘The SCBU were marvellous letting me hold her and spend as much time with her as I wanted. Katie died when she was three days old’.
‘We fought to save Hannah. The intensive care unit team did everything they could; but after the fourth bout of pneumonia we could not put her through any more pain. The spark that was Hannah had gone, so we took her home and, within the love of our family, she died peacefully.’
‘Half way through my pregnancy we knew Suzannah had trisomy 13. She was born normally with lots of lovely red hair and weighed 6lbs 11oz. We cuddled her for a few hours before she was taken to the Special Care Baby Unit. She couldn’t feed because of her cleft lip and palate and a drip was set up. The difficult question of surgery arose because Suzannah had a bowel obstruction and surgery would be required to correct it. When we considered her other medical problems we felt that this high risk surgery would not be appropriate for Suzannah. We were then able to choose to care for her at home. We had Suzannah for 16 days and we made that time extra special.’
Where there are major life threatening problems and the future of the baby seems hopeless, it may not be right to provide the highest level of life saving skills, but the decision not to give intensive care to prolong the life of a very sick baby does not mean that loving care is withdrawn. The child can be kept comfortable and peaceful with much of the nursing care being provided by the parent or parents and supported by the medical staff.
‘The doctors recommended doing no surgery or heroics and we agreed with them at the time.’
‘No one really told us what to expect but, with hindsight, now I can see that, with the physical conditions Louisa had, she would not have lived long. I know that I didn’t want her to suffer. That was my main concern.’
Taking baby home
Parents may have the option of taking a baby home when hospital care is not required and it is not sufficient for families to be told to ‘ring the hospital if problems arise’. Specialised support should be arranged and a structured care plan to prepare a family for problems that may arise, such as feeding, constipation and apnoea. The care plan must be flexible to the changing needs of the baby or the family. Parents do not want to take their baby home to die. They want to take their son or daughter home to live, until such time as death occurs.
Families taking a baby home should be informed about Special Care Baby Unit staff home visits, community paediatric nurses, physiotherapy, respite and shared care, and state allowances.
‘Always feel that you can ask for information or advice and as many questions as you need, as often as you want. Ask the people you trust and who can give you the information you need.’
Dr Una MacFadyen : Consultant Pediatrician.
‘Annabel came home during the day and went into hospital every night. We were supported by our doctor and HV as she needed to be tube fed. We knew Annabel was going to die but never regretted having her home where she died of heart failure when she was five weeks old.’
‘Sophie stayed in hospital for 19 days. Two days before Christmas we collected her for the day and then decided on Christmas Eve to keep her home. We were so glad we looked after her at home until she died at 11 months.’
‘We never regretted bringing Leah home. Despite the problems, we were blessed to be able to care for her as long as we did. She died peacefully in her sleep at 4 months; nothing could have prevented it.’
‘Suzannah came home and after a difficult first night when she had several apnoea attacks which required resuscitation, things settled down and we had some quality time at home. We took lots of photographs, especially when we went visiting friends with Suzannah. On the 7th January, Suzannah weakened and died peacefully in our arms. In many ways it was a relief for her and we took great comfort from knowing that Suzannah has gone to heaven.’
The different types of respite care provided in an area should be discussed with the family although not envisaged at this stage. Should the needs of the baby become intensive, the parents may welcome shared care and the opportunity to rest and spend time with each other. Many children’s Hospices provide welcome respite.
‘Emma comes home during the week and returns to hospital at the weekend.’
‘Parents should be offered respite care and support from the start. They may not be ready to accept it, but it should be there as a possibility. It took us years to stop feeling guilty about using short term care, but others enjoy looking after Alastair.’
‘The good thing to come out of our son’s stay in hospital was the discussion on respite care with the consultant. John will now stay one weekend a month on the children’s ward until he has a place on the rota of the excellent respite care centre nearby.’