Based on an interview with Miranda (Queensland, November 2018)
Miranda and her husband Tom have been married for 3 years and want to start a family. It’s not that easy for this young couple because Miranda has Tuberous Sclerosis Complex (TSC). Even though Miranda’s TSC symptoms are relatively mild it’s been a long and complicated journey for them.
At 7 years old, Miranda was diagnosed with the rare genetic condition, TSC. TSC affects Miranda’s kidneys, lungs, heart, brain, eyes and skin. White patches on her skin, previously assumed to be birthmarks, and the growing number of angiofibromas developing on her face led to a dermatologist diagnosing her with TSC.
It was later in life that Miranda, now a talented hairdresser and married to the love of her life, Tom, learnt more about her TSC. Miranda’s kidneys have required treatment with new medicines for TSC and Miranda was supported to learn more about this treatment from world experts at TSA’s 2015 conference.
For Miranda and Tom, starting a family was the biggest challenge that TSC gave them. Without any assistance, Miranda has a 1 in 2 chance of passing TSC on to any child she has, and that child may experience many more signs and symptoms of TSC than Miranda has. Miranda and Tom have chosen to use IVF techniques to ensure their baby does not have TSC. Although this is not an easy process, with needles and medications and high out of pocket costs, having this option makes them one of the lucky ones.
It isn’t so easy for many people living with TSC. In around 15% of people with TSC genetic testing is not able to find the gene change that causes their TSC. This means they are not able to test for TSC through IVF or prenatal genetic testing.
While we’ve learnt so much about the genetics of TSC over the past 20 years with the discovery of the TSC1 and TSC2 genes, there is still much more we need to understand. New research planned to happen right here in Australia could help to unlock mysteries of why we cannot find a TSC gene mutation in some people with TSC.
Dr Clara Chung, Clinical Geneticist says, ‘Our discoveries could help us to diagnosis TSC more precisely in very young babies, opening up opportunity for early therapy, and will give options to adults with TSC to become parents. What we learn may also help us understand why and how TSC tumours form which may give us new ideas of how we can prevent or treat these tumours in the future.’
Reflecting on this Miranda says, ‘When you have TSC, trying to conceive a child who is free from the disease is challenging and complicated even when you have all the genetic information like I do. I hope this research can help other couples facing similar challenges to have the information they need to help them start a family too.’