Too much information?
An article appeared in the New York Times this week announcing a breakthrough in antenatal testing which is non-invasive so carries no miscarriage risk but could potentially identify up to 3,000 genetic diseases caused by gene mutations
At the moment antenatal screening is limited to a handful of know disorders such as Downs, or where there is an inherited risk such as Cystic Fibrosis. The definitive test involves an invasive procedure, either amniocentesis or CVS (chorionic villus sampling) to obtain genetic material in order to establish the baby's karyotype and whether they are carrying a known genetic disease.
Genome mapping and it's applications was in its infancy when Daisy was born but within a year the mutation for Costello Syndrome had been identified and there is now a theoretical chance that babies could be diagnosed antenatally with the syndrome. This new test also means that screening can be done for a huge range of known genetic syndromes without any risk of miscarriage. Pandora's Box has been opened....
When I was pregnant with Daisy, we were given a 1:4 chance of having a child with Downs. We had breezed into the scan, with a family holiday booked for the end of the week and feeling like we were old hands at this pregnancy game, that's when the first of the thousands of Daisy-shaped curve balls hit us. The consultant seemed to spend ages looking at the monitor and then made an excuse to leave the room, when he came back it was with a Nurse - we now know she is the nurse specialist for Fetal Medicine and that's when we were told that our chances of having a baby with Downs were 1 in 4. And all that was mentioned was Downs, or at least that's what we heard, we went home and I googled and read and tried to remind myself that 1 in 4 meant that the odds were still in our favour (just!).
Oh, if only we had known - when the Nurse Specialist phoned us on holiday to tell us that the much wanted baby we were expecting did not have Downs, she did not really clarify that there was not a lot at the time that they could find from the test so not having Downs did not mean we were out of the woods. I know lots of families with children with Downs, it's not a walk in the park, there are lots of stereotypes, there are lots of health problems, I have known children with the syndrome who have gone on to develop Leukaemia (they have a higher risk of this) or have heart problems or need tracheostomies. I know teenagers with Downs who also have autistic spectrum behaviours - no not a walk in the park but if someone had described in graphic detail the life we now have with Daisy, her prognosis, the sheer extent of the medical care required to keep her alive, the toll it would take on our family then I would have opted for that Downs diagnosis any day.
Because this new antenatal test makes it a reality, it means the parents will be able to know, in a risk free way, whether their child has a genetic disease. And I suppose the next stage is that they can use that information to decide whether or not to continue with the pregnancy. What would I have done had I been told that my child had tested positive for Costello Syndrome antenatally? I didn't even know what I was going to do when Downs syndrome was suspected. How can we know what the outcome will be, how can we judge what is quality of life? My daughter has a fuller, richer life than many children, she wants for nothing - apart form a new stomach and intestine and that is definitely not going to happen. I know that I worried about the impact of a disabled child on my other children, but do I have the right to deny them a chance to know a much longed for sibling because it is not perfect?
What if Daisy had been one of the people born with Costello Syndrome who do well - I know of children with the syndrome who can read and write, who use facebook, who go to mainstream school. They live with complex medical problems and disabilities, they still face surgery and the risks inherent with the syndrome but they are living rich and fulfilled lives. There are even children with the syndrome who, like Daisy, defy the odds in even being here, like Helaina, who has just turned 18 and is about to embark on her Silver Duke of Edinburgh award, she has survived cancer twice has had major brain surgery and has a 90 degree scoliosis of the spine yet, like most other 18 year olds, she has a Saturday job and has plans and ambitions for her life.
I am glad I did not know how it was going to be with Daisy because when she was born the odds were stacked against her and she has time and time again defied those odds. I'm glad I did not have time to dwell on how I would cope, because I just got on with it and loved Daisy first and foremost not her illness, not her prognosis. I would have been terrified to have been told what lay in store for me when I was pregnant with Daisy, to know the twists and turns of this journey in advance. I wish I had been armed with more information to educate the doctors who treated her because maybe some decisions would have been made earlier that would have made her more comfortable, it would have helped me connect at an earlier stage with the support group of other Costello families and know I was not alone. But as with any child you can't really plan for how their life will be, you can have hopes and dreams but as your child develops you modify these. I would have loved one of my children to be good at sport but that's not going to happen! And who knows what will happen to change plans, change your world even if your child is perfect when they are born? I had measles as a baby, as a result I am completely deaf in my right ear. What if that had been more than deafness, what if I had suffered brain damage instead? My parents would have had 3 years of a "normal" child then suddenly been thrown into the world of disability.
But can you have too much information? And what does knowing all this stuff lead too? Will people choose not to proceed with a pregnancy because they feel they are not up to the job of looking after a child with additional needs? I have heard this time and time again. Like the little girl, left behind in the hospital neonatal unit because she had additional needs when her twin brother didn't and her parents felt they could not cope with her disability, or another baby we met on our journey, put up for adoption as she had developed meningitis in her first year leaving her with a degree of brain damage. That is their choice I guess but how do they know they cannot cope? Are we so obsessed with perfection now. Apparently there is talk of identifying a gene which would indicate if a child has autistic traits, does this mean that I would have known that Theo had Aspergers before he was born?
Would I do it all again knowing what I know now - I honestly don't know but I don't know what my life would have been like without Daisy (or Theo) - I suppose the only thing I do know is that we know too much, we are now able to make decisions about things that were unthinkable years ago. The science that kept my daughter alive when previously there would have been no hope and continues to keep her alive is now allowing people to ultimately decide the fate of other children like her, we can't get away from this fact, while you can dress it up and say that it helps people prepare for a child with a disability there is no getting away from the fact that where there is no clear cut course for a genetic syndrome it allows parents to choose if they go with the risk or terminate. That was the option offered to me when it was thought Daisy had Downs, that was the get out clause, "we can arrange an immediate termination if the test is positive", no counselling on the other option - keeping the child, no leaflets from Mencap or other support organisations I have come to know so well, just the assumption that I would not want to proceed. I'm so glad Daisy called the shots and didn't have Downs, I wouldn't swap her for the world, I wouldn't change a moment, I'm glad I didn't know because I didn't know the strength I had until I needed it.
This is such a tricky post to write, because there are so many dichotomies - the scientific breakthroughs that mean disabled children are surviving and being kept alive are also the scientific breakthroughs that arm us with information before that child is born. Information on which parents can make life changing decisions based on a perceived quality of life. And every person has their own view on what they would do and what is right for them. Ultimately whatever the decision you make, you have to live with it and the consequences, just as we are living with the consequences of all our decisions for Daisy.
To look at Daisy's life so far, the surgeries,the hospitalisations, the pain management regimen, the prognosis - it would be so easy to say that it is unfair, that she does not have a good quality of life but the reality is that she has a full and rich life, packed with love and experiences and happiness. Would the physical and emotional toll on our entire family have been the same? My instinct is that it all becomes relative - we would have had stress, emotion, heartache regardless - it's part and parcel of modern life. Would my life have been better if Daisy was not here? As I say it's all relative. My life is good because Daisy is here and 100% I would not swap my life with her, despite the stress, worry, workload and inevitability of what is to come.
So what if 8 years ago we had been offered a test that showed my child had a severe, life limiting genetic disease with a variable course but a definite shortened life span what would I have done? The honest answer - the same as the answer when we thought Daisy had Downs - I just don't know. Part of me despaired that my life would never be the same again, yet we packed up and went away on holiday making the practicalities of actually arranging a termination very difficult.
Maybe I just trusted in my instincts as I have done for the past 8 years that it would be OK in whatever way OK turned out to be, that we would get through, life would go on. It's why this blog is called "Was this in the Plan?" because at the end of the day there is no plan, it's about making decisions that will guide a course and then trusting in your instincts that you have done the right thing for you.
If you are reading this because an anomaly has been found in antenatal screening the one thing I would advise you to do is speak to people. We were not offered an alternative, it was assumed that we would want a termination, no-one gave us a chance to talk about whether we could cope with having a child with a disability. I wish we had been given that information - we have learned that we can cope with what life throws at us but maybe we would have come to this realisation a bit earlier had we been shown the full picture .
Websites close to my heart
- Shooting Star Chase (Daisy's Hospice)
- Great Ormond Street Hospital Children's Charity
- Torbay Holiday Helper's Network
- Sick Children's Trust
- Daisy's Angels - Facebook Page
- About Costello Syndrome
- Asperger Syndrome
- Caudwell Children
- Together for Short Lives (Children's Hospices in the UK)
- Costello Syndrome Support Group
- Give Kids The World
- PostPals - Putting Smiles on Sick Children's Faces
- Singing Hands (Daisy is their No1 Fan!)
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