08/04/2015 15:42 BST | Updated 08/06/2015 10:12 BST

I Flinch Inwardly. That's My Handsome Boy The Doctor's Talking About

Female paediatric Doctor comforting 3 year old having a medical exam in clinic

My amazing son, who I'll call J, is three, and was diagnosed soon after birth with a relatively rare genetic condition. We don't yet know how it will affect him as he grows older, but so far he has battled an array of medical problems. One thing's for sure, our little family's life will never be 'normal'...

J and I are meeting his new paediatrician, at the hospital in the city we have moved to. Dr May is around 60; kind, interested, intelligent. She spends two hours with us discussing every aspect of J's developmental and medical needs.

The fact he isn't toilet trained yet and he's about to turn four. His poor growth – his height has plateaued way below the 0.4th centile and he struggles to gain weight (I'm actually a bit jealous sometimes...) His upcoming cardiac surgery this spring, to correct a fenestrated ASD (holes in the heart).

Unfortunately, because of the structure of J's heart, this cannot be done as keyhole surgery and has to be open heart surgery. We are all dreading it, especially given J's sensitivity and his many anxieties.

J doesn't know about the surgery yet - it's advised only to tell a child his age a few days before - but we are trying to teach him about the body and the heart (his 'engine'). He's not interested, really.

Even taking J for his flu vaccination, or to be weighed, is a big stress for him. It's not surprising, given his four previous surgeries, and months in hospital, that he is terrified of doctors, nurses, hospitals and clinics. To be fair, so are we, his parents.

We discuss the need for play therapy and psychological support to help him (and us) prepare for the surgery. The need to monitor the pleuroamniotic shunt in his thorax. The fact he still can't jump yet.

She listens to his chest and examines his body from head to toe, J screaming in fear. Only chocolate biscuits get us through. She refers him for physiotherapy, audiology, ophthalmology and the special needs dentist.

She gives him games to play – building blocks; following instructions; picking things up; doing jigsaws.
She has no concerns when it comes to his speech and language, or learning abilities. He won't need a statement of special educational needs and won't qualify for specialist pre-school teaching anymore.

At the end of the appointment, Dr May turns to her medical student, who has been sitting in and playing with J. She asks me: 'Do you mind if I point out to my student what to look for in children with J's syndrome?'

'That's fine,' I say.

She says, 'Do you see how his eyes are very slightly slanted downwards – and his ears protrude just a little? Of course it's very subtle...'

I flinch inwardly. That's my handsome boy she's talking about. His eyes don't actually slant, and his ears don't stick out, any more than any other child's.

Some people with J's syndrome do look noticeably different – deformed; disfigured. J's clinical geneticist told us from the start that apart from his pigeon chest and small size, he simply does not have any noticeable deformities.

If he did, we would be completely fine with it. But it does jar me when I know the expert geneticist says he doesn't have any facial characteristics associated with this syndrome, and a less experienced paediatrician sees what they think they should see.

I murmur, 'J's geneticist says his face looks normal', but Dr May doesn't seem to hear me. She doesn't respond.

It makes me realise how little doctors often know outside their own areas of specialism. We have grown used, on visits to A&E, to seeing registrars Googling J's syndrome before they speak to us; the Wikipedia page comes up again and again.

We see what we expect to see.

For previous diaries click here.