Yesterday morning I heard something that really made my blood boil for the first time since Wade was born. I got into the car to hear a local celebrity scientist on the radio discussing an item from the day’s news. Recent research has developed a technique for potentially shutting down the extra chromosome in the cells of a person with Down syndrome. The short term implication is the potential to develop new gene therapies to treat some of the health issues more commonly associated with DS such as hypothyroidism, leukaemia and early onset Alzheimer’s. The wider implication is that this technique may be used to ultimately turn off DS in the embryonic stage effectively “curing” it.
It wasn’t this in itself that made me angry, it was the description this scientist gave of Down syndrome. She called it a “devastating” condition. There was joy in her voice as she described how this discovery had the potential to eradicate DS all together. And I thought to myself…this is my son they are talking about here. Maybe I’m just an over protective mother ready to leap to the defence of my child (well, I was when I fired off my aggrieved text message into the station!!) but it also had me thinking about what is really at stake here.
Recently I have been thinking about the implications of the new prenatal blood test for Down syndrome. MaterniT21 or Harmony are two of the brand names. This test takes a sample of blood from the pregnant mother which also carries some of the fetal DNA in it and can determine with 99% accuracy whether the baby has DS as well as Edward’s syndrome (T18) and Patau syndrome (T13) as early as 10weeks.
In Australia, 95% of all positive diagnoses for DS from an amniocentesis results in a termination of the pregnancy. A shocking statistic but a couple of points about this are worth noting. First of all, the amnio is an invasive procedure which can be painful and has a small risk of miscarriage so it is reasonable to assume that a lot of women who choose to have the amnio are considering termination in the event of a chromosomal abnormality anyway. This could explain the high percentage of terminations. Myself for example, decided early that I wouldn’t terminate if the baby had DS so therefore the amnio was an invasive risk I wasn’t prepared to take, so I refused it. Another reason for me to refuse the amnio was that you have to wait until the baby is around 15-18 weeks old. By that stage, I had connected with the baby and it felt a part of me. I would have struggled to terminate at this stage. The MaterniT21 test however can be done as early as 10 weeks and therefore the idea of termination at this earlier stage is more of an option for some women. Basically, this non invasive, highly accurate test, early in the pregnancy is going to result in less babies born with DS due to more women choosing termination. Fact. This article also makes some great points.
This combined with the future potential to apply gene therapy to the embryo as an option for women who would never choose an abortion and it is a very real possibility that DS could become a thing of the past….and this brought up some really strong emotions for me.
I am all for medical advancement that will cure illness but DS is not an illness. I am hopeful that this latest discovery may help design targeted, specific therapies for some of the more serious health issues that can come with DS however, most discussion in the mainstream media talks about how we will cure these problems by “curing” DS. It really bothers me because curing DS fundamentally changes every aspect of our kids. They will no longer be the people that they are.
If you had asked me when I was pregnant whether I would choose DS for my son, I would have told you you were crazy. But ask me now if I would remove the DS out of my son…. I can’t answer it. It’s a part of who he is. He’s not suffering, he’s not in pain, he’s not living a valueless life. It is as much a part of him as his blonde hair and blue eyes.
He will have his challenges and hurdles to overcome but who doesn’t? Not all of us are going to excel at school or have stellar careers or make a gazillion dollars. Some of us are going to need some help and assistance in our life too. Some of us are going to find our strengths and value in quieter, simpler things. Some of us are going to be surprised by how differently our lives turned out from what we were expecting but realise that what we have is so much better than what we wanted. All of us make the most of our lives within the limits in which we live them. How are we going to draw the line in the sand and say that this whole type of person is not worthy?
Wade doesn’t have any of the health issues that “curing” DS is supposed to cure. He will have an Intellectual Disability but we are learning so much everyday about how the brain works that it may get easier and easier for him in the future to learn new skills and ways of communicating. But also, he is funny. So funny. Even at 18 months this kid has a sense of humour that is second to none. Every morning when I wake up, there is this little face peering down onto mine with the cheekiest grin all over it. He starts trying to make me laugh before I’ve even opened my eyes. He will make this little noise in the back of his throat because he thinks it is hilarious. Then he gets the giggles. Then I smile, so he will do it again. Anything to make me laugh. Once he has started laughing, it doesn’t matter what I do or say, he will cackle uncontrollably at whatever I said. This can go on for half an hour if my cheeks will allow it.
Then sometimes he will have a 10 minute conversation with himself, in his own language, using the most serious facial expressions and wildest hand gestures. He looks like an evangelical preacher or an Italian politician giving a speech. I love it because he has so much expression and personality.
There are times when he will sit in front of his dad while he plays the guitar and rock from side to side while playing an imaginary drum, or he will crab-crawl over to the piano and reach up over his head to play the notes. Then I will pick him up and sit him on my lap as he gently taps the keys with his finger, after which he will grab the sleeves of my shirt and use my hands to bang really loud, up and down the board. When he really wants to cut loose on it, he will use his feet and lie back on my belly dancing his feet back and forth.
Best of all, are the times when he wordlessly looks into my eyes and touches my face and tells me how much we belong together…. and I have no idea how much of this amazing personality is because of DS or not but I’m damn sure that he just wouldn’t be him if the extra chromosome was turned off.
I just wish that DS could be separated from its medical consequences in the eyes of the mainstream media. The life expectancy and quality of life for people with DS has improved dramatically in the last 30 years due to closure of institutions and improvements in health care and early childhood intervention principles. Thirty years ago people were not expected to live beyond their mid thirties let alone, go to school, get a job, fall in love and get married or make a meaningful contribution to society. Now, people with DS can expect to achieve a lot of these things as well as live well into their sixties with a much improved quality of life. Imagine what can be achieved in the next 30 years if our kids are given the chance. At the risk of using generalisations, I have noticed from spending time with people who have DS that there is something else. Something special. A lightness, a peace, a happiness. A distinct lack of bullshit. A comfort in their own skin. A simple honest existence. I know this is not true across the board and I’m sure there plenty of people with DS who are complete arseholes too but the point I am trying to make is this….
In our rush to “cure” all of the perceived “devastating” consequences of DS, are we unwittingly going to “cure” all the beauty too?