You may gather from the title of the blog that the condition my daughter is diagnosed with is not that common. There are about 500 people with Emanuel Syndrome (I’m going to refer to it as ES from now on) in the World, in Sept 2015 when I first did the (crude, non statistical) sums that meant 1 in 14 million people worldwide with ES.
One of the challenges that the rarity of ES brings is there there are very few Doctors, Speech and Language Therapists, Physios or Teachers who have ever encountered it. Those who have can have usually met very few. When I meet professionals at Lucy’s appointments their approach varies. In my experience as a parent and formerly as a healthcare professional I think there are key things that help when dealing with something new and rare that help to get the best support in place for everyone.
Say what you know and what you don’t. Most parents of children with a rare diagnosis don’t expect you to have heard of it. I don’t mind that you haven’t heard of it but suggesting you have without being able to give some evidence is likely to damage the trust I have in you. I recall being a little incredulous when one of Lucy’s consultants said she’d met 3 other young people with Emanuel Syndrome. I challenged her (in what I hope was no more than a curious tone): ‘I find that surprising’. She acknowledged it was unusual and described that she used to work at Great Ormond Street Hospital (for international readers info about that here http://www.gosh.nhs.uk), I accepted those creds and moved on. Let the family you’re supporting know what skills you do bring to the table. If you’re a Speech and Language Therapist for example it might go something like this ‘I’ve not met anyone with Emanuel Syndrome before so I’m looking forward to learning as we work together. I’ve worked with children who have difficulty with communication for other reasons and due to other syndromes though so we can talk about some of the things I’ve learnt are helpful and what might work for your family.’.
Allow rarity be a foundation for hope and not fear
Over and over again when I’m talking to other parents we talk about hope and the sense that some healthcare professionals act in a way that feels to take that away. You do not have to give the worst case scenario all of the time. It doesn’t not help me for it to be driven home that, although I hope she will speak that 80% of children with Emanuel Syndrome do not. I recall one appointment where I expressed hope that she would speak and the Doctor reiterated the statistic above again, just to make certain I knew the low odds of my hope being realized. I know that having an extra chromosome will affect Lucy’s development. I understand that with the change to her genetic code that things will be different. I have no idea however what she will do, whether she will speak or not, whether she will walk or not. What helps is when Lucy’s achievements are celebrated for themselves rather than measured against an arbitrary developmental yardstick or predicted based on minimal information. Think about the strength of the evidence you are using for your predictions. The fact that ES is so rare allows for this flexibility and for the unknown to be an avenue for excitement and exploring what’s possible for Lucy as she grows in the world. I’d like it if healthcare professionals joined me in the world of what’s unknown and therefore possible than dwelling predictions and prognoses based in limited information. Let me understand and come to accept that she may be in the 80% while fostering hope that she will be in the 20%.
Allow people with ES and their parents and carers to be the experts
Read what we bring you, look at the websites. If we’ve found something out on Facebook don’t dismiss it, be prepared to talk it over with us and work out if it might help us. Remember when it comes to ES we have access to a network much bigger than yours and we might well be more up to date on the evidence. Having our expertise about ES and even more importantly our own child gives us confidence too. Chances are you healthcare professionals have got a lot of things lined up for us to do, medicines and nutrition to provide, physiotherapy, putting of spica casts, using signs…. We need to feel we can do it. One of the biggest confidence boosts I had was from Lucy’s orthopedic surgeon who turned to a physio in one appointment and said ‘Lucy has Emanuel Syndrome, and if you want to hear more about that ask Mum, she’s the expert.’ I can’t tell you what it meant and the confidence it gave me.
When things are rare and unusual, when you’ve never seen it before and you’re unlikely to encounter it again really is the only avenue open is to be open be honest, share and learn from the people and families you work with. Learn together and enjoy the possibilities ahead.