I’m participating in a social media challenge started by Remember The Girls this week! The aim is to raise awareness of X-linked genetic disorders and specifically to talk about our own experiences of having an X-linked disorder as a woman. I will post 7 blogs throughout this week, with the below themes.
Day Three: Misconceptions About Being A Carrier.
I’d never heard of the term carrier used as part of a genetic disorder before. I took a guess at what it meant when it was briefly discussed at my son’s first genetic appointment, before any of us were diagnosed but I didn’t really think anything of it until my own diagnosis appointment at Guy’s hospital.
After explaining all about Alport Syndrome, the doctor defined the term carrier in relation to X-linked disorders. She stated how they don’t like to use the term carrier anymore, as it leaves people with the impression that being a carrier is benign or entirely passive. You won’t suffer any ill-effect and your disorder is essentially harmless to you but not for the males you pass it to.
In some X-linked cases this is perfectly true. Some people never know they are carriers, no symptoms, no issues and if no family history or biological children show symptoms then these syndromes can lay hidden for many years.
However, some carriers do not experience this. I will talk specifically about Alport Syndrome as it’s what I know personally but I have seen many other similar stories on Remember The Girls website. Through connecting with lovely families across the world I have spoken with women who have had no symptoms at all, women who have gone into kidney failure later in life and women that needed to have transplants in their youth. I have had many chats with women who have partially or fully lost their hearing, again in a range of ages. I have spoken with women who have battled with high blood pressure, anaemia through blood loss in urine and chronic fatigue. There can be symptoms for carriers and they are very real.
It is so important to re-educate people who hold the view that all X-linked disorders only affect the males. We are not just carriers.
How many of the woman reading this have visited a health professional and felt fobbed off? I have been misdiagnosed with anxiety twice in my past. The first person I spoke with told me to swim and wear less black. The second person 10 years later said I had Globus Hystericus, down to anxiety. If both situations had been investigated more through really listening to what I was saying, Perhaps things would be different for me now. As a child, my mother was constantly labelled a ‘fussy mother’ until I was rushed into A&E bleeding from top to bottom. I have experienced this too with my own son and if I hadn’t pushed to see a specialist, we could easily have been one of the families welcomed in to our Alport Syndrome group who are suddenly thrown into a life of dialysis and transplant, completely unexpectedly. I can’t begin to imagine how terrifying that would be.
Life is not black and white. Health and illness span many grey areas, as people and families are all different. Narratives change, even in the medical world. Yes, we may have a syndrome that others have and we can draw knowledge from researching trends and probabilities within that collective syndrome. That’s a great thing. What isn’t great, is using outdated terms that let others sometimes lean towards apathy and misogyny, in turn quieting and turning away the calls for help from a big group of people who need support.
Please take a look at Remember The Girl’s social media links below.