“Bring him home, love him… you won’t have him that long.”
The doctor’s words seemed to form cold iron chains which hung tightly around my neck. It was 2008 and he was giving us his diagnosis. “Rare. Genetic. Progressive. Regression. Terminal.” Ethan, he told us, has Hunter syndrome.
I can still hear the doctor explaining that this was a rare genetic syndrome for which there was no cure. People living with (severe) Hunter syndrome are missing an enzyme – this affects their appearance, mental development, organ function and physical abilities. Every single part of the body and mind becomes damaged over time.
The treatment, Enzyme Replacement Therapy, would involve synthetic versions of the enzyme being infused into his body for three hours every week. It is indeed a miracle drug, but it would not be able to cure Ethan.
I had never known heartbreak until then. My heart had become glass and each of the doctor’s words seem to create another crack until it was split into countless pieces.
That was 2008, and, for the first few years of Ethan’s diagnosis, I convinced myself that he would somehow just be OK. It was a delusion – but it did help me get through the initial shock.
Back then, when people would ask me about my boys, I would never mention Hunter syndrome. I wasn’t strong enough to explain. But gradually, as I slowly moved towards acceptance, something changed.
I stood on the sidelines of other families living their lives. I listened to parents speak about their child’s abilities, syndromes, and conditions. I saw the pride they had in their child’s accomplishments and their willingness to share their journeys with other families. I saw their strength.
Slowly, as I accepted what was happening, those chains around my neck loosened. When people asked me about my boys, I began to divulge a little bit more. Sometimes people who asked me about my boys were just passing the time. At other times, I’d be in conversation with someone while outside a children’s hospital ward. We would stand drinking our coffees, our foreheads all wrinkled, holding our phones so tightly. We just knew we were both standing on similar ground, no doubt waiting for that call – the call that tells us our children are back on the ward or the call that tells us we must meet them in the ICU.
It was while standing here, with this second group of parents, that I began to open up. I would tell them the reasons my forehead was as wrinkled as theirs, my eyes as red as theirs and my heart as shattered as theirs. Then we’d exchange stories, funny stories about the things we never thought we’d celebrate, or the things our children can do, or about that one time our child learned the ‘F’ word and continued to use it at every opportunity.
There is an unspoken bond between parents who have children with disabilities or life-limiting conditions – we simply ‘get’ it.
Now, when I am asked about my children , I don’t shy anyway from how different our lives are from the average family. I will engage with those who are interested in hearing about our life. If I am asked about Ethan, I tell people he is an amazing boy who really brought me into the world. The perspective he has given me is one which I think we could all use once in a while. Life is indeed for living.
So yes, I do now tell people about Ethan and I don’t just sit and nod if they presume something which is incorrect. Does any parent? I want to raise awareness, and to explain. If someone is engaged enough to ask more questions about Ethan, I will explain Hunter syndrome as gently as I can. I often find these days that I am the one comforting the person who has just asked “what is Hunter Syndrome?” I am now strong enough – most of the time.
Had there been enough awareness about Hunter syndrome 10 or 15 years ago I would have known by looking at Ethan that he had it. Would that have made a difference? I believe so – Ethan would have been on treatment sooner and probably taking part in a current drug trial.
I raise awareness now, partly for me: that 21-year-old girl who felt no one cared; who was told over and over again that there was nothing ‘wrong’ with her son; who was told she was ‘an over-anxious first time mother’. And I do it for other mothers too. I want them to know that they are not alone. It is comforting to know I am not either.
Ethan has just turned 14. He is living his life, filled with laughter , swear words, TV, teddies, hats, and of course a bit of wrestling thrown in. He is happy and he also has Hunter syndrome. Those chains will never leave – but I must live too. There will be plenty of time for tears. Right now we are all learning to live, love and laugh all over again.
This was originally published as a guest post on Mumsnet.com