Breast Cancer and Down Syndrome

What is the link between breast cancer and Down Syndrome? I hope this title won't confuse you. I am not saying that there is a link between them but there are certainly some similarities. First of all, there is a screening programme for both conditions. Secondly, there have been advances in dealing with both conditions. 

My mother-in-law was diagnosed breast cancer in 2003. When she received the diagnosis, she was understandably worried as she witnessed her mum died of the condition in the 70's. However, as a medic myself, I knew that the mortality rate has reduced through the decades and my mother-in-law was diagnosed at an early stage thanks to screening. Breast cancer was a terrible disease in the 70's. Her mum died an agonising death. In contrast, my mother-in-law had surgery to remove the lump, followed by radiotherapy and chemotherapy. She had hormone therapy for 5 years and she was cleared. Her life now is more or less normal. Breast cancer is merely a distant memory. Yes, it wasn't pleasant to have chemo and radiotherapy but after she's endured that. she came out reasonably healthy. 

In the years after her diagnosis of treatment, she has witnessed marriages of her children, birth of her grandchildren, overseas holidays and many enjoyable things. It is actually quite similar to a Down Syndrome diagnosis. As a mother to a son with Down Syndrome, I have the privilege to know people with the condition from very young to fairly old. I see families struggle with the diagnosis and how they struggle through the first few years of life with the health issues. It isn't plain sailing but whose life is plain sailing anyway? Children with Down Syndrome are often born with other medical problems such as heart problems, oesophageal tracheal fistula, haematological problems and problems with hearing and vision. Yes, they have low muscle tone and delay speech and development as well. However, as I have witnessed the families that I know personally and those that I met on social media, the most rocky period is the first two years of life. Similar to cancer, they require treatment, which can often be distressing. However, most children and young people with Down Syndrome grow up to lead a healthy life and they are able to participate in more or less everything the typical children enjoy. Most families who have children with Down Syndrome lead a pretty normal life. 

My son goes to a mainstream primary school, attends Beavers, learns swimming and gymnastics. He enjoys cycling and outdoor activities. He has friends. Some may think it is an exception but it is not. I know many children with Down Syndrome enjoying lives, having friends, taking part in sports and activities. I know many young people with Down Syndrome having jobs and live on their own. And most families that I know are happy. They are not suffering as some people may think.

If someone receives a diagnosis of breast cancer through the screening programme, nobody in the right mind will suggest euthanasia as a way out. As we know even the treatment is distressing, there is life after treatment. So why should we automatically assume someone will opt for termination upon receiving a Down Syndrome diagnosis? The ethics of abortion for babies with Down Syndrome is based on what we knew in the 60's, at a time that they are not expecting to live beyond 20 years of age and not expected to be educated. Now the life of people with the condition is much better. Shouldn't we think again?

Choice

We like to talk about choices these days. Politicians keep telling us we can have choices for schools, dentists, GPs, etc. We want choices when it comes to pregnancy and family planning. We are told that it is our choice when it comes to our pregnancy, whether to continue or not (before the legal cut off), whether to have screening or not, what to do after screening, how and where we want to give birth, etc. That gives us a sense of we are in control but are we?

In this country, as in many other countries, it has become routine that we can opt for screening of a number of conditions. We feel that we can have more information and control. We think that we can make unbiased decision. However, has anyone actually questioned who decided which condition(s) to screen in the national screening programme and why these conditions are selected?

Of course, first and foremost, the screening test has to be feasible and reasonably accurate. But there are a lot of things that can be tested to a reasonable degree of accuracy and who decide which one to screen. Quite alarmingly in prenatal screening, I found a lack of ethical scrutiny and involvement of stakeholders in the process. The screening for Down Syndrome has been available in the NHS for a number of decades. However, it was started in an era that children of Down Syndrome were not expected to be educated, to be independent and get a job and were expected to require long term care. The aim of screening was to detect it so that termination can be offered. Should we still use the same ethical justification when new test (NIPT) is available?

I am not an advocate of euthanasia but I can understand the feelings of people living with debilitating conditions. Say if we legalize euthanasia and allow doctors to end the lives of patients with Alzheimer disease with consent of the patient or the next of kin if the patient cannot make consent. A lot of us perhaps will understand and accept it even we may not agree due to our own beliefs. Now if 20 years down the line, we find a cure for Alzheimer disease or if we find ways to halt its progression, will we still allow euthanasia for the condition? It is the same for prenatal diagnosis. One should always revisit the moral and ethical justification in light of the medical advances.

Unfortunately not only the ethical justification is never reviewed, its assessment also does not often involve people who are affected by the condition. As for now, the choice is a false one as it is the medical establishment who decides what to offer. So it is a bit like the election of Chief Executive in Hong Kong, the Chinese government decides who can stand and the public has to choose from that selection, which is invariably pro-China.

Late term abortion: why is it right to do feticide?

I was reading the blog from Melissa Ohden. She is a survivor of late term abortion. That gets me thinking about the procedure of late term abortion. As it is possible for babies to survive when they are born after 22 weeks, there have been cases that babies do survive a late term abortion. In order to 'avoid' that, the procedure usually involves feticide (killing the fetus before it is born). Sorry if it sounds too gruesome to some but it is a fact as you can see in section 6.7 of the RCOG guidelines.

Over the years, the clinicians are getting 'better' in the procedure so it is not a lot less gruesome and more clinical now. It basically involves injecting potassium chloride into the heart of the fetus to stop the heart. It has a very high success rate. However, I have real problem with that, as much as I understand the agony of the prospective parents and the difficult dilemma that they found themselves in. First of all, if feticide is essential, it is an acknowledgement of the baby's ability to survive outside womb. That means the baby is a viable human being. Then he or she should have the same right of life as everyone else. Secondly, why is it that we all agree we should not kill babies (or any human being) but we allow the killing of babies just moments before they are born?

For years, that have been debates about euthanasia. We all know the pitfalls if euthanasia is legalised. We want to safeguard the vulnerables so they will not be forced to choose euthanasia. How about unborn babies? To end the life of an unborn baby at late term due to disabilities is like euthanasia. It is euthanasia on someone who has no voice and who cannot give consent. If the baby is deemed to be non-viable due to 'severe handicap', why do we even need to kill it before it is born? We should be focusing on delivering good palliative care rather than late term abortion.

Should we allow termination up to birth?

This seems to have gone under the radar for a while until the past few days. Royal College of Midwives issued a statement in February supporting the campaign of BPAS (British Pregnancy Advisory Service) to decriminalising abortion and calling the current time limit of 24 weeks to be scrapped. It is also calling for the procedure to be regulated at the discretion of doctors. Why the doctors again? Do they really know best?

Of course, women's right is important. However, the general consensus is that once the foetus is compatible to a life outside womb (generally agreed to be 24 weeks), he/she has a right to live. It is for this reason that a current limit of 24 weeks is applied. Terminations beyond 24 weeks should be for the baby's benefits rather than the mother's. For example, if a baby is going to suffer immeasurable pain or distress once it is born, termination can be allowed as this is to reduce the suffering of the baby. If a mother's life is in danger, the law also allows termination but as I have argued previously, this is rarely necessary and in most cases, the woman or the family will rather have the baby delivered and get support from the neonatal unit.

If we allow terminations up to the time of birth, it implies that the woman has absolute right over the baby's life and hence, should we also allow infanticides? How can it be right that when a baby is born at 39 weeks old will be granted the right to life immediately after birth and he or she does not have any right just minutes ago while in the mother's womb?

RCM also made a mistake by not consulting members on this issue before making such an important statement. In addition, the role of RCM should be to support its members in their work and help them to support women through their pregnancies and make sure babies are delivered safely. This campaign goes against all these and politicises the organization. Of course it does not help when the chairman of RCM is also on the board of trustees of BPAS. Whatever the ethical persuasion of the chairman, she should not let this affect the policy of RCM, just as if the chairman of RCM happened to be pro-life, he or she would not be allowed to change the policy without consultation of its members. I am glad that after going under the radar for 3 months, it has come out in the press and there is currently a petition against it.

Give it up and Try again!

Today my friend shared this on Facebook: http://hk.apple.nextmedia.com/news/art/20160508/19602690

In case you do not read Chinese or understand Cantonese, it is about a mother who gave birth to a girl with Down Syndrome 16 years ago. There were a lot of problems at the beginning, including heart defects and lung infections. The doctor told her to give the child up as 'bringing a child with Down Syndrome up is extremely difficult and you are still young and you can try again'. She refused to give up despite being abandoned by a husband who gambled away all the money, leaving her in debt, and having to give up a high pay job. She started another career while juggling with the demand of bringing up a child and now she has a business of her own. I really applaud this woman's perseverance but also lament the attitude of the doctor.

Give it up and try again! He was not the only one who say that. Remember Richard Dawkins? I am glad that so many people spoke out against that when he said that about a hypothetical case. I am not saying that parents should not be allowed to give their child up for adoption. The circumstance of each family is different. However, to give up and try again does carry the notion that babies or children are commodities and if he/she does not fit our need, we can just give it up and try again. Children, whatever the disabilities or abilities, are human beings. Yes, if the situation is difficult, adoption may be the best choice. However, as professionals, please do not say give it up and try again. Remember, you are dealing with humans.

Improving Late Term Abortion

Most people will agree that one should avoid late term abortion if possible as it is traumatic to the woman involved. As I mentioned in another post, currently the law is lax about late term abortion and it relies on the 'good faith' of doctors. That potentially results in babies being aborted for minor disabilities. So what should we do about it?

I don't think it is right for an outright ban on late term abortion. However, we should put in safeguards so that it only applies to extremely serious malformations that:
1. carries a grave prognosis
2. are not treatable medically or surgically
3. the baby will suffer, eg. in constant pain.

The BMA is right to say that the following should be taken into consideration while assessing the seriousness of the handicap:
1. the probability of effective treatment
2. the child's probable potential for self-awareness and potential ability to communicate with others
3. the suffering that would be experienced by the child when born or by the people caring for the child.

While doctors are well qualified to assess the first factor, not every doctor has up to date knowledge of disabilities and so are not usually well placed to assess the ability to communicate or whether the child or the family will suffer. The first doctor who is likely to make the decision to offer termination as an option is probably an obstetrician. However, obstetricians do not often see how children with disabilities grow up. I will argue that this should be assessed by a community paediatrician, an educational psychologists or a professional who deals with children with disabilities day in and out.

The third factor relates to the quality of life of the child and his or her family. This is even more difficult. As medics, we often look at it from the medical point of view. We often consider someone who is bed-bound or paralysed to have a poor quality of life but is it true? Have we met enough people with all sort of disabilities to make that judgement? We see that over the years, babies with spina bifida, cleft lip or palate, Down Syndrome, Turner Syndrome and others being aborted because the parents, who often do not know much about these conditions and how living with these conditions are like, make the decision based upon the medical profession's assessment of the potential poor quality of life. In the process of developing good and accurate information to prospective parents, have the medical profession asked people who live with the condition to see if they are happy with their lives.

To someone who was born 'without disabilities', I used to think it would be awful to be paralysed or to be wheelchair bound. However, after meeting families of disabled children, I realized that it may not be true. Yes, their child needs a wheelchair but they are happy and they are not miserable all the time.

Yes, we need to consider these factors but who is best placed to make the assessment? Another aspect is the accuracy of the predicted prognosis. We hear parents given really grave prognosis and their children survive into adulthood. Therefore, the medical profession should give the parents an indication of how accurate these predictions are.

I will suggest the following changes to late term abortion:
1. A separate form should be used and on the form the doctor needs to put in the reason(s) that he feels the baby has a serious handicap including the three factors above.
2. An assessment is required from another profession or specialty that regularly manage children with that particular disability.
3. Referral to national charity about the condition or to local parents support group.
4. Cooling off period of at least 48 hours unless the mother's life is at risk.
5. Mandatory post mortem to document the list of malformation.

Time limit for abortion

When I was a medical student in Hong Kong, the legal limit for abortion was 24 weeks unless the mother's health was in danger. I assumed that in UK was similar. As I normally opted out of involving in these procedures, I wasn't really aware of any change in the law. Therefore, I was surprised and outraged when I learnt a few months ago about abortion on Ground E in UK.

The 1967 Abortion Act set a time limit of 28 weeks for abortion. However in 1990, Section 37 of the Human Fertilisation and Embryology Act made changed to the Abortion Act to introduced a time limit of 24 weeks to grounds C and D but removed the time limit on Ground A, B and E. So what are Ground A, B and E?

Ground A is when the woman's life is at risk by continuing the pregnancy. Ground B is when grave permanent injury physically or mentally can result if the pregnancy is continued. Ground E is that the child will suffer physical or mental abnormalities as to be seriously handicapped. However, the law did not give a definition for the phrase 'seriously handicapped'.

For years, babies with cleft lips, spina bifida, Down Syndrome and a range of disabilities were aborted beyond the 24 weeks limit and women were offered abortion as late as 38 weeks or even at term. As the foetus can potentially survive outside womb at this stage, the procedure often involves injecting potassium into the foetus' heart in utero before delivery.

I do not understand how someone can offer to take the life of a baby away when he/she can live a healthy and fulfilled life into the 60's or 70's or has something that is surgically treatable. The 24 weeks limit was set for Grounds C and D because babies can survive outside womb beyond this limit and so are considered viable and hence, they are offered rights to survive. The keywords in Ground E include 'suffer' and 'seriously handicapped'. What is suffering? What is seriously handicapped?

The problem with such loose definition is that over the years, there had been babies being aborted for not really serious disability as most would understand such as cleft lip or club foot. In addition, as long as the doctors acted in good faith, they cannot be prosecuted by law. That means it is difficult to challenge the medical profession. I would like to ask, are all doctors perfect and do doctors know everything?

Although BMA laid out a few factors that should be considered while offering late term abortion in a document, it also immediately quoted the case of Rev Joanna Jepson's case about cleft palate and went on to say that it opposes any tightening of the definition of serious handicap. What message is it sending to the doctors who read the guidance? They can continue to advise women to abort at late term on any disability as no one can challenge that in the court?

As for Ground A and B, in most cases, if the pregnancy is beyond 24 weeks and the mother's life is in danger (e.g. pre-eclampsia or cancer requiring treatment), wouldn't most if not all mothers choose to give birth and hope that the baby will survive with all the help in the neonatal unit? That actually make these grounds unnecessary.

The baby the led to a quest for a screening test

Today I saw it through Facebook: http://www.npr.org/sections/health-shots/2016/04/26/475637228/only-human-a-birth-that-launched-the-search-for-a-down-syndrome-test

Recently there were a lot of discussions about NIPT test, which will be available on NHS for the prenatal screening for Down Syndrome and other trisomies. Little that I know that it all started from a mother who gave birth to a baby with Down Syndrome 50 years ago. 50 years is a long time. Back then, people didn't know that people with Down Syndrome could learn. People with DS did not have such a long life expectancy as now. They were expected to be institutionalized. She may succeeded in being part of the development of a screening test but the need for such screening test has changed. If children with Down Syndrome can look forward to a long, happy and semi-independent life, and most of their medical problems can be treated, why do we still want a screening test prenatally?

I suppose some parents want to know and with all the right information still feel they cannot commit to have the baby and opt for abortion. Some may want to prepare for the birth. However, we shouldn't be encouraging people to opt for abortion nor should we assume that abortion is the default option.

Pro-life vs Pro-choice

I believe in God and I am a Christian. When it comes to abortion, I will not choose to abort. Am I pro-life? I suppose I am in this sense. However, I know that sometimes under some circumstances, people may want to choose abortion. Am I against it? No, I am not. You may think that it is a non-Christian thing to say but God actually has never forced people to do things or not to do things. He lays out rules, tells us what he likes and what he doesn't like, and the consequences. However, He has never forced us to choose one way or the other. Out of love, He gives us free will. Now I am not saying that God is pleased with people when they choose abortion. Far from it, I am sure God grieves for the unborn baby and for the expectant mother. God knows the weaknesses of humans though, therefore, He will continue to love and to change the person.

So while I will still say, abortion is undesirable or wrong. It is the individual's right to choose what to do and one has to accept the consequences of her own action. I will not be judging women on this. However, when it comes to abortion for foetal 'abnormalities', does she have all the information needed to make an informed choice? Are the information correct and accurate? Can she process the information correctly? Another thing is that when we allow abortion in our law, is the law reasonable when it comes to balancing the right of the woman and the right of the baby?

Even with the correct information, some women will still choose to abort because of personal circumstances. I don't think they should be demonised. It is a difficult decision. We should sympathise with them. That is the pro-choice side of me.

Did I really know Down Syndrome?

In medical school, we were told about Down Syndrome (DS) as a disorder. Babies born with it have a high chance of having congenital heart disease, tracheal oesophageal fistula, Hirshsprung disease, etc. They will live up to 60 years old now but they will have learning difficulties. Growing up, I have never known anyone with DS personally. So what will I do if I have a child with DS? Before we had Sean, I felt that no matter what disability my child has, I have to love him and bring him up to fulfill his potential. As for DS, my idea of potential was being able to walk and talk, being able to work somewhat in a sheltered workshop because that was what I knew about people with DS then. After having Sean, my expectation has gradually changed. Now I want to help him to learn, to be included in the society, have a job and live independently in the future.

It is difficult if we have never met or known someone with DS to picture this. The education that we received in medical school and the clinical experience that we have through working in the hospital or surgery give us only a glimpse of what DS is or more appropriately who people with DS are. We tend to think of it as a collection of medical problems. We see it as undesirable, abnormal. This is why I was so upset when I knew of the diagnosis because I felt sorry for Sean. I thought that he had this horrible syndrome that he will never be able to live normally.

The reality is that people with DS are individuals capable of learning, interacting, socialising, working, just like other people. They may learn a bit slower but they will learn. To me, Sean is a funny and cheeky boy. He is inquisitive, creative and eager to help. Our days are pretty normal, filled with the mundane routines. They go to school and we work. They play with each other and fight with each other. You hear Hannah getting upset about Sean making a mess of her things and Sean complain about Hannah. If you ask me now what I think about having a child with DS. I will say it is not only ok but more than that. It is awesome. Our days so far have been filled with joy.

We meet families who are equally happy about their children with DS. In fact, most of the despairs come not from the child but from the society, from the society's attitudes towards disability. If that can be changed, it will be even better. It is changing and it is nice to know so many families are eager to adopt children with DS. It is nice to know more and more women choose to keep their babies when they found out the diagnosis during prenatal screening.

Unexpected News

I went to see Sean the next day after the Caesarean. He was in a little cot, sleeping, very peaceful. I looked at him intensely and thought it looked like that he has Down Syndrome but I couldn't be 100% certain. Simon came in the afternoon. As we were both in the NNU, the consultant came and said that she needed to talk to us. So we were led to a private room and she told us that they thought he had Down Syndrome. I just wanted to cry. She said to me, ' What do you think about it?'. I told her as parents we will still bring him up and let him fulfil his potentials. She said it is right and actually people with Down Syndrome can live independent lives with help now. She left us alone for a while and we took that time to cry and reflect. Then she told us about the investigations that were necessary such as ultrasound of heart, blood tests, etc. This is the start of our journey of discoveries.

My pregnancy

I was in my 30s when I had my first boyfriend and we married when I was 37. I became pregnant a few months on. Of course, I knew about 'risk' of Down Syndrome at that age and I thought I knew what it was (Trisomy 21, right?) and what will be the problems (50% chance congenital heart defects, etc). I did not go for screening as I knew I will not opt for termination anyway. So after 10 months, Hannah was born, no Down Syndrome.

When I found out that I was pregnant in 2008 Christmas, I just opted out of screening as before. It was a little bit complicated but generally uneventful until I was 35 weeks when the midwife was a bit worried as my fundal height (the size of my bump) wasn't growing. She referred me to the hospital where they found that there wasn't much water around. So they monitored for a couple of weeks and one day they found that the oxygen level in the umbilical cord was low so I went for Caesarean section and Sean was born. In many ways, it was like a pretty normal 'urgent' Caesarean section. I had a spinal and my husband Simon was there by my side. The baby was delivered. I heard him crying and screaming. Everyone congratulated me, saying how much he looked like me.

We went back to the ward, elated. I felt that he was a bit floppy but I put it down to him being born three weeks early. He had some problems maintaining his sugar level and temperature so he was taken to the neonatal unit. I had to expressed milk for him and the next morning I was mobile enough to see him.

About

I always like maths and engineering. However, when the time came for me to choose what to do in the university, I decided to take up medicine as 'I want to help patients'. I found out in a couple of years that I didn't really like medicine but I finished the degree anyway and became a doctor. While I was a trainee anaesthetist in Truro, I went to a flea market one day and found a book of partial differential equations. I bought it and went home to read. Then I said to myself, 'Hey, I can still do these maths'. I looked at some courses that universities offered and found 'MSc in Medical Physics and Clinical Engineering' at University of Sheffield. And they accepted candidates who are from biological disciplines but they need to achieve at least degree level of engineering maths. So I spoke to the course director and lecturers. They suggested me to go through the undergraduate engineering maths textbook, which I did in a month. I enrolled in the course and that was the start of my career change. After the MSc, I went on to do a PhD in Automatic Control and Systems Engineering and did research in universities for over 15 years and now I am developing an Android app for people with disabilities.

The reason for this blog is that after going through medical training, I thought that I knew quite enough about different common conditions to go through life but how wrong I am. I hope to discuss these issues from the perspective of someone who has worked in the clinical environment but also has come out of it and due to having a child with Down Syndrome, has met a lot of people with all sorts of disabilities.