The Guardian – Our beautiful sons could die before us

The Guardian, 16 August 2014 – Our beautiful sons could die before us: Nick Taussig thought his son Theo was a bit of a late developer. If only that were true. Doctors diagnosed Duchenne, a devastating genetic disorder – and everything changed. He will not rest until he finds a cure.

We judged it to be little more than a routine appointment with the pediatrician, and so only I had gone, not my wife Klara. Both of us did not need to be there. Would she not confirm what we suspected? That our soon-to-be three-year-old son, Theo, was just like me, no more than a late starter. My mother had reassured me – as only mothers can – that I had been the very same. I did not crawl, just walked, and this I did about a year too late. And my speech, well, that was late also. I had said nothing until I was two and a half.

Theo was his father’s son, therefore, developing in his own inimitable way, and the pre-school manager was simply being neurotic and overzealous in her concern for Theo’s development – his failure to hit certain key milestones. His nursery was not worried in the slightest. An occupational therapist, a physiotherapist and a speech therapist had assessed him, and they had raised no major concerns. And so was this not just final confirmation that Theo was fine, albeit a little slow in getting his act together?

The pediatrician took to him immediately, Theo charming her with his big blue eyes and shy smile, behind which lurks a great confidence, as if he already knows he’s in possession of good looks, which will serve him well as a teenager and young man. She took out some toys. He did as he always did and flopped clumsily on the floor, almost in the manner of a rag doll, legs splayed either side, and began to play. She asked me about him, the usual questions. When did he sit up on his own, crawl, walk, talk, blah-blah-blah? I answered as best I could, unsure of exact dates, though my answers were not important because, well, he was his father’s son.

He sat for quite a while and played. “I think he’s an intellectual,” the pediatrician said warmly, then asked him to get up, and he did as he always did and heaved himself to his feet, using his hands to help him stand, looking as if he was climbing up his legs. She then said she wanted to see him walk, and we left her consulting room. Theo, excited by the change of scene, did as he always did and waddled fast down the corridor, his idiosyncratic gait – hips swinging camply from side-to-side – a perfect metaphor for his development: he did things his way. And lastly, she wanted to see him walk up some stairs, which he likewise struggled with, taking one tentative step at a time whilst clutching at the wall in the absence of a rail, until after a few steps he gave up, crawled up a few more, then insisted that daddy carry him the rest of the way.

We returned to her consulting room, where she explained she would like to take a blood test, which I judged to be no more than precautionary. We arranged it for the next morning. And that was that.

She called the following afternoon, the results already through, asking to see us tomorrow, and this time could we both attend please, mum and dad. “Is there something wrong, do you think?” Klara asked. “No, not all. I think she’s just being very efficient,” I replied.

We walked into the hospital again on the morning of Thursday 26 June. This is just six weeks ago, I realise as I write this, and yet it feels like an eternity. Why does time have the habit of slowing down quite so much when we are in pain? I still cannot remember exactly what she, the pediatrician, said, though she spoke with great tenderness, her voice quivering, on the verge of tears. “He has very high levels of creatine kinase…this points to muscular dystrophy…and by virtue of his age and sex, it’s statistically most likely he has Duchenne.” I could not bear to hear this last word, which possessed an appalling finality, but even worse, I could not bear to see my precious wife floundering with the diagnosis, because she did not yet know what I knew, what this word meant.

I knew because a year before I had approached Alex Smith of Harrison’s Fund further to reading a newspaper article entitled, “I Wish My Son Had Cancer,” Alex alluding to the fact that cancer research is far better funded and resourced than muscular dystrophy. I was interested in making a documentary film about his extraordinary attempt to complete an Ironman Triathlon – a 3.8km swim, a 180km bike ride and a 42.2km marathon – carrying his 35kg disabled son, Harrison, the whole way. To this end, I’d even written a pitch for broadcast, describing how Alex had first learned of his son’s fate, the doctor explaining that, “Harrison cannot produce dystrophin, a protein we all need to build up and protect our muscles. As a result, every muscle in his body is deteriorating. He will most likely be in a wheelchair by twelve, will suffer from respiratory failure, heart failure and other debilitating orthopaedic complications, and will die in his late teens or early twenties.” Was there any hope? Alex had asked. “No, the disease is 100% fatal,” the doctor had replied. This was now my son’s fate as well.

I began to cry, then found I could not stop. I was barely able to speak. The appointment ended with the recommendation that Oskar, our eight-month-old son, be tested also. Klara thanked the pediatrician, and the four of us left. I held Oskar, while Theo took mummy’s hand. We walked aimlessly through the maze of corridors, until Klara eventually suggested we go to the canteen and eat something: the boys needed their lunch.

I ordered some food, for Klara and I too, though well aware that neither of us would eat. How could we? Klara uttered the word, at which point I told her what I knew of Duchenne. She started to weep, in this dour canteen, as a group of student doctors looked over at us, likely wondering what diagnosis we had just received. Theo responded by smiling at his mother in between a large mouthful of mozzarella and tomato panini, as if reassuring her that, in spite of the fatal genetic illness he had just been diagnosed with that would kill him before he was a man, all would be okay. And I could not bear this smile, because at that moment all could never be okay, as our son, our beautiful son, was going to die before us.

We have to call family and friends, Klara and I realised when we got home, and this was exhausting, as they all responded so differently, some crying while others held it together, doing their best to be strong and supportive. We got to the point where we were tired of having the same conversation over and over. “What’s the treatment?” There is no treatment. “But what about steroids?” They do little more than postpone the inevitable by a few years. “Might there be a scientific breakthrough?” Possibly, though we cannot count on this. “How are you?” We’re ok, when what we really wanted to say was we’re drowning. “You’re so brave.” Thank you, when what we really wanted to say was what fucking choice do we have, should we just give up now?!

The next few days and weeks, Klara and I entered our own private hell, the shock of the news quickly replaced by a desperate grief – it was as if our son had already died – and in my case, a malignant sadness, which gnawed at my heart like a cancer. I was unable to sleep, to think, and struggled to even look at Theo, as whenever I did, all I saw was his cruel and painful decline, his muscles wasting away before my eyes. He would never play rugby, never make love, never make it to university, never realise his full potential. One morning, after just a few hours sleep, I went for a run. I pushed myself until I could not take another stride, then sat down on a bench and wept, praying that Theo live a full life and I die.

Oskar was diagnosed with Duchenne as well. Klara was distraught when I called from work and told her. Her parting words to me were, “We must be incompatible.” I did not tell her that she is the carrier of the defective gene, X-linked inheritance a defining characteristic of Duchenne. I hurried home as fast as I could, desperately worried for her. I felt like I inhabited a nightmare as I stood there, on a packed platform, listening to the loud and continuous laughter of a group of businessmen beside me. Lost in a haze of grief, I got on the wrong train. When I did finally get home, I found Klara with my parents. She looked fragile, unlike her, as she is always so very strong. “It’s me, isn’t it, I’ve given it to them…” she uttered, and all I could do was hold her and kiss her and tell her I loved her.

The following week, the love and support of family, friends and colleagues proved vital, sustaining Klara and I when all felt lost. We found ourselves fluctuating wildly between hope and despair, one minute sure that a cure would be found in time, further to reading yet another article online, the next convinced that one would not, with us doing little more than deluding ourselves. It took my sister to remind me that, “Right now, the boys are very happy, and will continue to be, as long as you give them all your love and care.” And she was right.

I will cherish them to the very end, but also will not rest until a treatment and/or cure is found, of which there is the real prospect of one now. There are 2,500 British children with Duchenne and 300,000 worldwide. Ninety nine per cent of sufferers are male. It is a cruel and horrible disease, and the most common fatal genetic disorder to affect children around the world.

Last weekend, we were in a children’s playground. Klara was helping Theo navigate a few of the different climbing frames. A father behind them escorted his two daughters, Theo’s age or thereabouts, and became increasingly impatient. Why is this boy so slow? Why is his mother so protective of him? he wondered, then huffed and sighed. I wanted to rip his head off. How dare he dismiss my son in this way! Does he not realise that this woman, my beautiful wife, is not cosseting her child, but rather aiding him, because his hips and shoulders are too weak? My son has a disease, is disabled, and this prick doesn’t realise it. Well, I will make him realise, I thought, as I prepared to confront him. I looked at Theo again and he was smiling, enjoying the challenge of the last obstacle, and I looked at Klara, who was so present with him and always has been. Christ Nick! I rebuked myself, and walked away.

In that moment, I understood that I have cherished and loved Theo and Oskar more this past month than ever before. Their diagnosis, in this respect, has been a perverse blessing, forcing me out of my stupor and delusion, and urging me to really be with them as opposed to being too often preoccupied with work and worry. Klara knew from the moment they were born that we were blessed and privileged to have them, and has never lost sight of this. But I did lose sight, on occasion. I took them, my beautiful boys, for granted.

A wonderful man, a friend of my sister’s, said to me a few weeks ago, “Certain children choose their parents, and Theo and Oskar have chosen you and Klara, as you possess the qualities and strength they need.” Before I was told my sons were dying, I would have dismissed these words as no more than sentimental claptrap, but now, I hold them close to my heart.

If you would like to help fund the world’s best researchers and scientists find a cure, please donate to Harrison’s Fund: harrisonsfund.com

theguardian.com/lifeandstyle/2014/aug/16/our-beautiful-sons-could-die-before-us