Trigger warning – This article discusses testing and termination of a disabled fetus/ baby in the womb that may cause upset to some readers. Please take care when reading. These are the views of the writer and not The Unwritten.
Osteogenesis Imperfecta (OI), also known as Brittle Bones, is a genetic condition caused by a mutation in one of the genes responsible for the production of type one collagen, a major protein in bone. This leads to weak bones which fracture easily.
According to the Brittle Bone Society, OI affects around 1 in every 15,000 people, meaning around 5000 people in the UK are currently living with the condition.
Those with OI have a 50% chance of passing it on to their children, although 25% of children born with the condition have no family history of it.
OI can vary dramatically in symptoms and severity, with some people spending their lives in a wheelchair and others showing no outward signs of having the condition at all. The most common symptoms include weak bones (and sometimes teeth), short stature, scoliosis (curvature of the spine), joint hypermobility, hearing problems and blue sclerae (the white of the eye).
Traditionally, there are four types of OI which most people align with, although in recent years, additional genetic classifications have emerged to further distinguish between forms.
Type I is the mildest and most common form. Patients will break bones more easily than someone without Brittle Bones and should be careful to prevent fractures where possible, but they usually appear healthy and can live relatively unbothered by their condition.
Type II is the most severe form, usually proving fatal within the first few months of life, often due to respiratory problems caused by issues with the bone of the ribcage.
Type III is also a severe form that normally leads to a high number of fractures, significantly reduced height, pronounced spinal curvature and arms and legs being bent and short.
Finally, type IV sits between types I and III, the number of fractures can vary greatly and this form can be hard to diagnose as many symptoms can be misdiagnosed or missed entirely.
With OI being such an uncommon condition, it rarely gets much media attention and when it does, the focus tends to be on people with severe cases who provide attention-grabbing headlines like, ‘I’ve broken over 100 bones’.
Of course, it’s important to amplify these voices and raise awareness of Brittle Bones, but I’d like to shine a light on what it’s like for people who have a milder form, like me.
I have type I, inherited from my mum. I was born with a broken femur but other than that, I’ve been lucky not to have any breaks. I’ve also been very lucky symptomatically.
I’m short at five feet tall, have a slight curve to my spine, blue sclerae and a dodgy left knee that I can only assume is a degree of hypermobility, however, none of these things impact my daily life.
Having said that, there’s a certain mental toll to having a serious condition that may cause me a lot of problems in the future, something that is difficult to reconcile with the picture of health that I am today.
Right now, aged 23, OI is just a background consideration, something to factor in before I lift something heavy, when walking on icy pavements or before doing sports or activities that could lead to a break.
However, I’m acutely aware of how the decisions I make now could exacerbate the problems OI will bring me in the future, and of the weight of the choices I’ll have to make one day, particularly where having children is concerned.
When my parents were thinking of having me, it was the late 90s and the only option they had to help inform their decision was genetic counselling.
As it’s been described to me, this seemed like little more than running tests on immediate family and coming to the conclusion that there was still a 50% chance of me inheriting the condition, which they already knew. Luckily, I’ll have more options, although they don’t fill me with the optimism that you might think.
As of now, there’s no way to stop the condition being inherited, instead, the options revolve around testing. I could use the IVF route of fertilising my eggs outside the womb, screening the embryos and implanting the healthy ones (pre-implantation genetic diagnosis), or I could fall pregnant naturally and have the foetus tested using amniocentesis or chronic villus sampling (CVS), before deciding whether to continue the pregnancy. Though I have my reasons for this decision it would be no less heartbreaking.
I know the guilt my family felt each time OI was passed on to another generation, but as I look into the future, I just don’t think I can be the one to stop it. This internal conflict is by far the hardest thing for me about having Brittle Bones. I just want to be able to have a baby like everyone else.
Of course, I’m grateful that medical advancements have given me these options, but both are far from ideal. IVF is, by all accounts, brutal and not something to be undertaken if not necessary, not to mention my chances of actually becoming pregnant would fall from, in theory, 100%, to the average IVF success rate of around 30%.
Having a mild form of a life-limiting condition carries a mental toll beyond the physical symptoms and this isn’t talked about enough.
It’s almost impossible for me to reconcile my life now with the issues I know I’ll face in the future. As it stands, I don’t think there’s anything I can do but look out for my body now, and just hope for the best in the future.
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