Radio Review: The Life Scientific – Anne Child on Marfan syndrome

One decision can change your life, and dedication pays off. These were my main takeaways from listening to this heart-warming podcast, while I did my half-hour walk through the park to get my steps in.

BioNews is no stranger to The Life Scientific (see BioNews 1155 and 1208), a BBC Radio 4 science programme, aimed at listeners of all backgrounds. Listeners aren't required to have prior expertise in science to be able to follow the presenter, Professor Jim Al-Khalili, as he talks to leading scientists about their life and work, finding out what their inspirations are and what their discoveries might do for us in the future.

In this episode, we are introduced to the inspirational Dr Anne Child, a now-retired NHS clinician who remains the medical director of the Marfan Trust and an active researcher of Marfan syndrome (see BioNews 699).

In introducing this episode, Professor Al-Khalili, starts with a small quiz where he describes a few key symptoms of this particular condition: 'Unusually tall height, elongated fingers, flat feet, weak joints, eye sight issue, and heart problems'. It took me by surprise, as someone with a strong interest in medical science, that I had never come across this disease before.

Marfan syndrome is a genetic condition that makes the body's connective tissues incredibly fragile; which can also weaken the heart, leading to potentially fatal aneurysms. What's more devastating is that patients with the condition have a 50 percent likelihood of passing the most severe form of the disease onto their children. This is where Dr Child enters the room… an inspiring clinician who dedicates her life to Marfan syndrome, with an urge to determine its genetic cause, to cure it, and to allow patients to have healthy families.

This episode included a particular focus on Dr Child's personal life, before we learnt about her contribution to understanding Marfan syndrome. It was interesting to hear about Dr Child's past and her relationship with her family. How she was inspired by both her mother and grandmother, who were both nurses and taught her how to be a carer. At the young age of 14, she had already decided to become a doctor.

Throughout the episode, I strongly felt she had the spirit of an explorer, which later translated into her career. She relocated and practised paediatrics in different hospitals, later specialising in clinical genetics in Montreal, Canada, working under one of the founding fathers of medical genetics, Dr Clarke Frazer. This is where she fell in love with her husband, also a clinician, while bonding over medicine. After she and her husband relocated to London, she had the opportunity to review 100 child patients with heart conditions to determine which ones were affected by genetics at the Institute of Child Health, London.

There, an encounter with a Marfan's patient whom she was unable to help, set her on a career path for life. The patient wished for his Marfan syndrome to not be passed onto his future children. Rather than feeling defeated, she initiated worldwide research to investigate Marfan's genetic cause, by establishing the Marfan syndrome collaborative study. She pestered researchers at conferences at Harvard University, in Cambridge, Massachusetts, successfully recruiting nine different countries in Europe and North America, adding to her genetic database on Marfan syndrome.

Eventually, researchers found a new, tiny protein called fibrillin, a crucial fibre used to form connective tissues around the body. Dr Child and her team immediately connected this protein to Marfan syndrome, and it was a huge milestone in the search! Through analysing blood samples, she and her collaborators eventually found the key gene responsible for Marfan syndrome.

However, they found that the search for the genetic mutation that causes Marfan syndrome wasn't that simple, as each Marfan patient has a unique error in their fibrillin-1 gene. Dr Child used a unique analogy explaining how patients with Marfan syndrome might differ genetically, equating finding the mutation to searching a loaded train carrying oranges for one spoiled orange.

Dr Child hopes for a better future for Marfan syndrome, more specific medication, surgery, diagnosis, and with the use of IVF, babies that are not affected by the condition. IVF with pre-implantation genetic diagnosis is possible if the affected parent's gene mutation is known. Eggs and sperm are harvested and embryos created in the lab. Shortly after fertilisation, cells are removed from the embryo and tested for the mutated gene, with embryos that do not carry the gene selected to be implanted into the womb.

When Professor Al-Khalili asked if Dr Child has ever encountered any resistance to IVF, she answered: 'Yes, occasionally'. Here the episode touched on the perspective that not all people with genetic conditions want to select 'healthy' embryos, recognising that there are widely differing and equally arguable ethical viewpoints. I would like to highlight her well-thought-out explanation to patients who argue that they would not be here if their parents used IVF to remove their embryo. She explained that in previous generations, parents did not get a choice in choosing as they had not yet discovered the gene nor developed the technology. In most cases, they were not even aware of this condition yet. She also expressed that with the help of IVF, 'A lot of the worry (from caring for a child with Marfan syndrome) is removed, and the responsibility of creating a new life has been honoured.'

Dr Child later founded the Marfan Trust to drive further research. Since then, life expectancy for people with the condition has jumped from 32 years old to over 70!

This episode caters to those who are interested in how researchers are working hard towards overcoming genetic conditions, told through the story of Dr Child, an inspirational woman who has been working on Marfan syndrome ever since meeting a patient that ignited her passion to conduct medical research, alongside supporting those with the condition and raising awareness.

Overall, I would suggest you give this episode a listen; although increasing your step count is optional, it is highly recommended!