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Points for Reflection

1.Read again the paragraph where this mother describes being told about her daughter’s diagnosis. Describe how the manner of the disclosure might have breached the basic ethical principles of healthcare.

2.Compare the positive and negative experiences of health or social care described by this mother. What are the factors that appear to differentiate between positive and negative experiences?

Activities

1.This mother is attempting to help her daughter by seeking information and using dietary supplements. How would you advise another mother who asks you about using these supplements?

2.Can you find any published evidence that these are either potentially beneficial or harmful?

Quotes

“When I meet people for the first time, I assume that they do not know, and only mention her disorder if I get to know them. I do not see the point in mentioning it, as to me it is a label with a terrible stereotype. I want them to see her for who she is.”

“We have an excellent general health visitor. She keeps in contact and compares my child to any other, giving an honest opinion. That’s what we have asked for.”

Further information

Down syndrome Association.

UK National Library for Health, Genetic Conditions Specialist Library website: Down syndrome briefing.

US National Library of Medicine, Genetics Home Reference – Down syndrome.

The Antenatal Screening Web Resource - AnSWeR http://www.antenataltesting.info/ has other personal experiences of Down syndrome.

Antenatal and Newborn screening information from the NHS (England) is available here.

Brainwave helping children throughout the UK who experience Developmental Delay


Location: The Stories
Transcript

You can download the full transcript here

Meriel’s story: having a child with Down’s syndrome
Learning about the implications of a chromosome imbalance to a daughter’s development

Having a child that has Down Syndrome (DS) was a shock. I became pregnant for the first time at age 32, and had not had any screening tests as my husband and I did not agree with termination. I probably naively thought that nothing would happen, but we also felt on another level that we would accept what we got. I had no problems during my pregnancy and the baby was very active. My daughter was born full term. It was a surprisingly quick labour, and due to drugs given late on, I was not very aware of what was going on. When she was born, I just remember the room being surprisingly silent. When I first saw my daughter I commented that her eyes looked slightly oriental in shape. The medical staff said nothing. Looking back this was as it should have been. I was able to meet my daughter, and spend the night with her. It was not till mid morning the next day that a nurse came and told me what they suspected. I will always be grateful that I had the chance to know my daughter, before being told that there was something different.

My daughter has changed my life completely - as any child would have. I have no other child to compare her with. The first couple of months were very difficult. It all seems a daze now. We were over come with love for her, but also distraught that she had a disorder that it seemed we could do little about, and with not much hope for the future. In those early days, we relied on what the medical profession told us – which was not much and not very positive. We were told she was at greater risk of heart defects, hearing problems, eye problems, learning difficulties, would probably be short and delayed in her development. Rather dismal! We asked them how she would personally be affected and they told us they really could not say and we would have some idea at 1 year old. The uncertainty has been there from the start and still remains. I was amazed that with all the medical advances we have, there was not one drug treatment we could use.

I spent the first 8 weeks frantically searching for information. I have a background of Psychology and extensive research experience – both in health and psychology. We found a lot on the internet – positive and negative. After researching it, we started our daughter on supplements specifically designed to try and counteract the effects of the extra genetic material. These consist of vitamins, minerals and amino acids. There’s no definite proof, but many parents have found it useful – as we have. Having an extra copy of chromosome 21 results in a chemical imbalance which increases cell damage. The supplements try to balance the metabolic difference and improve growth and the immune system. I also believe that a health diet, mainly organic, is a good basis, plus omega 3 and 6 oils and the occasional probiotic. We have become used to integrating all this into her everyday food. This seemed a very conservative level of intervention and we are still frustrated at the lack to medical treatment.

Later on we saw a genetic counsellor. It was really useful, but also raised more questions. She told us about our slightly increased chances of having another child with a chromosomal disorder. We do plan to have other children, but now feel that we could not cope with another child with DS. We might not be so lucky to have a child who is mildly affected, and we also feel it would be to the detriment of our daughter.

Day to day our daughter is just like any other child. We are fortunate that she appears to be very mildly affected. There is a recognised ‘Downs Syndrome’ look that many people think they know. Our daughter would appear not to be ‘obvious’ in this respect, except to those who have experience with special needs or paediatrics. Her health is good. She had a small hole that didn’t close shortly after birth, but had at a year. She currently has fluid behind her ears and we are going to see an ENT consultant about the possibility of grommets. Our daughter is also, at 13 months, meeting all her developmental milestones. She is also tall. When I meet people for the first time, I assume that they do not know, and only mention her disorder if I get to know them. I do not see the point in mentioning it, as to me it is a label with a terrible stereotype. I want them to see her for who she is.

There is no doubt that there is an extra level stress. I constantly feel that we need to do more for her, but it the long run it wouldn’t benefit her to be our sole focus. There has also been some difficult in our family. My mother insisted that the news of the diagnosis not reach some members of our family. To this day they do not know. We have had many arguments, but it has not been resolved. I can only think that my mother was initially ashamed.

I feel that conventional medicine offers very little at present. Unfortunately very little money has been spent on researching how to treat DS. Until recently it was seen as too big a problem. Now, in part due to the human genome project and the mapping of chromosomes, research has begun to focus on which specific genes cause the learning difficulties. It may then be possible to turn down the effect. This exciting research gives us hope for the future.

More research to date has focused on identifying DS during pregnancy. 95% of women who have a positive result then go on to terminate. I feel that the image of DS means that people make these decisions with limited knowledge. People are not aware of the vast level of variation of ability. Of course I would chose for my daughter not to have this disorder, but I feel that most people have such a bad stereotype that their view is very clouded.

Our experiences of the NHS are mixed. When I was told the news by a nurse it was in the ward with another woman one bed away. We really should have been told in private. We don’t have a lot of support from the special needs services. Unfortunately we haven’t found the services of much use. We went to a play and feeding therapy session and we were actually asked after a while what was wrong with our daughter. The problems we, and she may face, are of a slightly different nature to those some might expect with a child with DS. With no obvious identifying facial features and no sign of delayed development we are looked upon as not really having many problems, but she has a label she cannot remove. I know it will affect the way people treat her and what they expect of her. It has now been suggested by a number of health professionals that our daughter may have a rare form of DS – mosaic. This means she may have less extra genetic material, and may be less affected.

We have an excellent general health visitor. She keeps in contact and compares my child to any other, giving an honest opinion. That’s what we have asked for. We need to know where there may be any problems beginning to emerge and then we will do anything we can to treat it. Going to the GP has become strange. Our daughter has very good health, but on the 2 occasions I have had to go, once the consultation is over they seem to feel the need to make some comment. One implied that I should have had prenatal testing and then had a termination. The other appeared pitying.

We’ve found out that there is a lot we can do to help our daughter reach her full potential, as you would with any other child, and there is hope for the future. The debate between nature and nurture has not been resolved. Yes the extra genetic material brings extra problems, but it’s how you react that makes the difference. My daughter has a much more positive future than those neglected and abused.

Update – July 2007

Our daughter is now almost 3 years old. She attends a private nursery 2 days a week – we have not told them about her diagnosis as we feel it would not be helpful. She is a very happy, sociable child with many friends. Her speech is slightly delayed but she attends speech therapy (something we had to fight for), and is making good progress. She began to crawl at 14 months and walked at 28 months. We have had mixed experiences of the NHS and have left one GP practice because of their attitude. We’ve found more support and positive attitudes from a charity ‘Brainwave’.

I am now pregnant and due to have an amnio.