Hello My Lovely Readers!
I would like to say a big welcome to The Travelling Midwife and huge thank you to Jenny Lord. Jenny is the blogger behind Midwife and Life . Jenny is a midwife and blogger, sharing experiences and reviews . This week Jenny has written about Tay-Sachs Disease. I won’t ramble so scroll down to read more. Please share the blog for others to read!
Enjoy and Many Thanks again to Jenny x
How To Talk to Women About Antenatal Screening & Potential Implications
My own personal experience has changed the way I practice as a midwife. When we talk to women about screening tests, it’s really important to say that we can’t test for everything. Everyone wants a healthy baby, the ‘perfect’ child, when in reality that’s a myth. We talk about Downs Syndrome a lot, and it’s the one that most expectant mothers are fearful of, as it’s a common condition with visible features. I, like many people watched the documentary by Sally Phillips, ‘A World without Downs Syndrome,’ which really made me think, we paint such a negative picture about Downs. Do we encourage termination for those women who’ve had a positive amnio result? I like to think we don’t as a profession, but I can see her point of view, families are seen as martytrs for carrying on with these pregnancies, and when they have their baby, society often presumes that they would have had a termination if they had known. In reality, what’s so wrong with a person with Downs? In my mind, as with many others, it’s the unknown, it can vary from mild learning disabilities leading a full life to severe learning disabilities, heart conditions and more.
But what about the thousands, if not hundreds of thousands of other conditions that come up? From mild physical abnormalities like a cleft lip or talipes, to physical and learning disabilities let alone those conditions that are never given an official diagnosis or cause. We simply cannot go through each and every eventuality with mothers, we can only go through the common conditions we test for and make sure she understands why we are testing and the implications.
All too often women see the testing as a reassurance, not a diagnostic. At their booking appointment there is so much information to take in and lots of questions for them to answer, it’s so overwhelming for them when they’re still coming to terms with being pregnant. You need to go over why we are offering the testing, and what they would do with the results. Do they just want to know for their own information? Would they terminate if they had a positive genetic test? Would knowing the results change anything? Depending on the answers, they may not need or want the testing done. Our screening methods are constantly evolving too, with the non-invasive prenatal testing coming soon to the NHS. You may need to revisit some of the topics again at the next appointment.
It’s also important to remember the blood tests we take as routine can throw in some life changing results. They may find they carry HIV, Hepatitis, Syphillis or Sickle Cell, affecting the pregnancy and their life.
Ultrasound scans are screening tools too
Don’t forget each scan the woman has is a screening tool. At the 11-14 week scan they will be checking not only the nuchal fold for Downs, Edwards and Patau’s syndrome, but also any other abnormalities such as anencephaly, and other anatomical abnormalities. At the 20 week scan there is a greater chance abnormalities can be picked up like hyperplastic heart syndrome, cleft lip and palate, achrondoplasia, and many more. Women should be prepared it’s not just getting a pretty picture and guess the colour of the bump time.
There are many conditions and abnormalities that just can’t be detected or prepared for. When women are asking in the neonatal period about possible problems, we really can’t just reassure them that everything’s ok. All we can say is that everything seems normal at the present time and that they’re doing a great job of feeding and caring for them. I remember one conversation with a family, the mother was terribly worried about her newborn baby having a condition or learning disability, her friend had had a very quiet and ‘good’ baby who then turned out to have severe learning disabilities. Her baby was a seemingly normal baby, she was worried it was sleeping too much. The baby waked to feed and was gaining weight. In the end I couldn’t say that everything was OK. I had to say to her that we can’t tell exactly what’s going on inside, everything is normal now, time will tell. Will you love her any less? Will you stop caring about her? You can’t change anything about her now, this is your child, your family and how it’s meant to be. We take a chance when we start a family and it’s like entering a contract, much like a marriage, except we don’t choose them. We promise to love, care for and bring up our baby to the best of our abilities. We can pick and choose to some extent, weed out certain conditions that medicine allows, but the rest is up to chance. We can’t choose how they look, whether they’ll have a birthmark, an extra finger, a big nose or an unknown genetic condition, autism or hearing loss.
When you hold that baby in your arms the love starts and those vows are reaffirmed. Most parents will take on any problems big or small that their baby has unquestionably, often becoming an advocate for them and the condition in the process. I found this out the hard way, when my first child was diagnosed with Tay-Sachs Disease, a rare genetic metabolic disorder (not one from the NBBS heel prick). She was seemingly normal for the first few months of life, and then gradually deteriorated and died just before her 3rd birthday. Did we regret having her? Absolutely not. Would I have had her if I had known? Probably not, but I have gained such a lot from the experience. I wouldn’t wish it on my worst enemy though, such heartbreak and I know she suffered, with seizures and painful symptoms as well as chest infections, which she eventually died from. We discovered we both carry the gene for it and that each time we conceive it’s a one in four chance that the baby would be affected. We ended up with three healthy children, and I count myself as being incredibly blessed. You can read more about my experience and the trials we faced to have our healthy children on my blog Midwife and Life.
When women are so worried about abnormalities either big or small, remind them that this is the family they wanted and the love you have for them doesn’t diminish when the baby isn’t perfect, in fact if anything, it is amplified by our protective instincts. I was often told how brave and strong I was and people don’t know how I coped. The truth is, you have no choice, you carry on to the best you can and people will never see the whole story and how you struggle inside. If it’s something they feel they just wouldn’t be able to cope with, and they choose to terminate, support them in their choice, all we can do in whatever aspect of care, is to make sure they are informed.