Category Archives: duchenne

When you’ve been through a traumatic experience, it doesn’t take much to transport you back to that time. For me, it was a trip back from London to Athens. I arrived with my two year-old son running a high fever. Just before we put him to bed, my husband and I tried to give him something to bring it down. In his distress, he vomitted all over himself, the bed, our bed and us.

As I wiped him down and my husband collected the spoilt sheets, we were silent and grim-faced. It wasn’t as much to do with our son, who was now sitting happily chatting as I cleaned him. The scenario was too close to the bone for both of us and transported us back to the start of our own personal nightmare.

Just over one year ago, we were watching over our son in similar circumstances, only this time the vomitting wouldn’t stop, and our son’s cries produced no tears. Alarmed, we rushed our son to hospital and found ourselves trapped in a spiral of endless tests and rounds of doctors.

We went into hospital with something quite straightforward. Our son had contracted rotavirus, like most of the other children on the ward during that time of the year. The difference was that unlike all the other children who eventually got better and left, the doctors kept returning to us with furrowed brows, flipping through our son’s records and unable to get his bloodwork to normalise.

Nine days later, having run out of ideas and with only a genetic test left to run, they discharged us. Three days after that, we received a diagnosis that turned our world upside down – Duchenne Muscular Dystrophy.

A year later, the highs and lows I go through are less intense. The pain has not lessened, but my ability to bear it has improved. There are still little things that remind me of the future we face when I play with my little boy, the fact that he can’t climb the stairs of the slides, or how he can’t jump like the other two year olds that pogo-stick dance nearby. And of course, writing about it helps me cope.

I originally wrote about my son’s diagnosis on a separate blog. I share that post below with you:

There are moments  when your foundations are shaken to the core. Moments when you realize how frivolous your life up until now has been. In those moments you yearn to go back to the yesterday you so recently complained about, where your biggest problem was unpaid bills, or how you never managed to get through your pile of ironing. Those moments humble you. They come at a terrible cost, but the only way to keep going, the only way to not just fall on the floor and wish you could simply evaporate, are to believe that you’ll come out on the other side. Somehow.

For me that moment came just over a year ago sitting in a chair of a docto’rs office, and I wished I could run away back to the previous week where my biggest heartbreak had been listening to my son scream in terror outside the room where he had had his blood taken every day for nearly nine days. I was not allowed to be with him. Standard practice to stop hysterical parents from interfering with important procedures I suppose. I stood outside that door and wept, every fibre in my body screaming to be with my child.

It should have been so ordinary, so routine. He had a stomach bug. He kept nothing down. We grew afraid and raced him in the middle of the night to Paidon hospital in Athens’ centre. One day passed. Two days. Three. Children around us came and went. We remained. One aspect of a blood test was wildly out of the normal range. They tried various things. Blood was tested daily. They wouldn’t let us leave. “It’s probably nothing” everyone told us.

We all hoped and waited. My son played with his toys, annoyed by the drip in his hand. It’s probably nothing. Armies of paediatricians visited. They poked and prodded. When students appeared alongside the doctors, I grew increasingly worried. Make him stand, make him sit. Does he walk? When did he crawl?

It’s probably nothing…

By the seventh day, I was growing hysterical. I walked the corridors endlessly with my son in his pushchair, singing to him as I tried to get him to sleep. I still have dreams where I’m back there walking those corridors, trapped and unable to leave. When the cardiologist refused to give consent to discharge us, saying we were free to do so at our own risk, I don’t remember how I got outside, but outside I fell to the floor and howled in terror.

The hysteria passed, but each doctor who visited looked over the blood tests, frowned and advised staying put. I clawed at my arms. They ended up covered in red welts. I dug my nails into my scalp. I was losing it.

The stomach flu passed. We were still there. Finally, with no change in the blood results, we were allowed to go home. And there I enjoyed three days of bliss. Those were the last three days of life as we knew it. Something inside me sensed it. I kept saying “It’s probably nothing. The rest of the tests will come back fine.” Something in me didn’t believe it.

On a sunny Monday morning, I sat opposite a grey haired geneticist, a kindly man. I was there to hear good news. I felt sorry for how many times this man had to tell parents something terrible.

“I’m afraid the news I have for you is not good.”

My stomach plummets. I get a strange sensation I’ve never felt before. I feel like I am falling into myself.

Stop the ride. I want to get off. I don’t want to hear the next sentence. I want his mouth to stay shut. I want to pick up my son, thank him for his time and walk out of there. I don’t want to know. Normal slides away, and I have no choice but to watch it slip from my hands in the next few seconds.

My son has Duchenne’s Muscular Dystrophy. I don’t know what this means. I don’t dare ask. I stare at the doctor. “What will his life be like?”

“I’m afraid I can’t tell you.”

We often hear people say their heart broke, or their world collapsed. You don’t know what those words mean until it really does happen to you. I was in pain, my chest crushing in on itself. I wondered how my heart still beat. I wept in the doctor’s chair. The future I had imagined for my son vanished. I was left with nothing, just a big question mark, darkness and questions I was too petrified to ask. My tears didn’t last very long. Shock took over and they dried. “Pick up your son” the doctor gently advised.

I went to him, this precious, perfect, wonderful creature. I lifted him up. I looked at his beautiful puzzled face. I hugged him and breathed in his delicious smell. This was the creature I loved more than I could ever imagine, so much that  a lifetime with him was not going to be enough. Now, I am probably not even going to get that one lifetime. He couldn’t say it, but his expression asked all the questions. Why are you crying? What’s wrong? I’m bored.

My sweet angel. The little soul that had given me the gift of motherhood. I had wanted everything for him. I would have done anything. But no money in the world could buy him a new set of genetics. I kissed him. Save me, I silently, ridiculously, begged my little boy. Save me.

The months since that awful day have passed slowly. We have educated ourselves and began an aggressive round of visits to doctors in Greece and the UK. It’s not easy, because our son has developed a terrible fear of doctors after his nine days in Paidon. We fight on. We fire off emails. Friends trawl the internet for leads of new therapies. It sometimes feels like a search for a figment of our imagination. My husband and I make light of what’s happening. We push each other on.

As time moves on, we really do have more good days than bad days. But when the bad days strike, I feel exhausted already and we’re only at the start of the road. I feel tired. I feel so so old. I cry like a wounded animal. I cry for my child and what his future does or doesn’t hold. I cry tears of panic – I can’t do this, I’m not strong enough, I can’t raise a child I will most likely lose if no cure is found in the next years. I cry because a mother’s first job is to protect her child, and I couldn’t save him from this.

I get selfish and weep angry tears. Why him? Why my child? Why us? Weren’t we good enough? Haven’t we always been decent people? Haven’t we always helped the needy? Why, why, why? I torture myself with these questions, knowing that they’ll lead to nothing.

In the end, there is no answer to this question. In our case, the why will never be known. My son’s case of Duchenne’s was down to a random mutation. I am not a carrier, which is a relief because I have three sisters, and Duchenne’s carries down from the mother. When the news was broken to us, my older sister had just got pregnant after many years of agonized failed attempts. I was immediately sent for testing to see if I was a carrier based solely on my sister’s pregnancy. My test was pushed to the top of the pile and the results rushed through, in case she too would need testing.  Luckily, I was clear, which is a blessing because she is expecting a boy.

Amongst the darkness though, there are rays of light. I found a strength I never knew existed in me before. I have said it before. I’ve had an easy life. Nothing has really ever tried me. The first time I was in hospital was to give birth, the second was with my child. I’ve always been shielded from the harshness of life. I never imagined I would still be standing after this. The crushing pain in my chest is not there anymore when I wake up each morning. We check where we are on a grotesque ladder of genetic conditions, and morbidly console ourselves saying at least it’s not this or that.

I try to exude positivity. Some very promising therapies are being worked on right now. This disease may affect my son’s body, but his mind will remain intact. He can still use his intellect to be anything he wants. I found a drive I never possessed before. I retook and finally passed a mathematics-laden financial exam my office had been badgering me about for years and which I had convinced myself was too hard to pass.

My huband and I work hard at untangling our messy heads. We never imagined this would be the path our life would be on eight years ago when we met under the blazing Athenian sun. He is my rock, and every day I thank God that I have him in my life. There is no one else I would rather have next to me in this battlefield. We talk and make action plans. We fuel each other’s positivity in the face of impossible statistics. There are no miraculous getting out of the wheelchair and walking moments with this disease. There are no “I beat Duchenne’s” T-shirts.

But most of all I get my strength from my son. He gives me endless joy and hope for the future. I know he has a strong spirit that will see him through, because in the end the ultimate trial is his, not ours. When I watch him sleeping, his beautiful limbs sprawled out like a starfish, I want to kiss him endlessly. I rub his hard muscles, the early sign of this syndrome. I hope he is not in pain. I wait for the morning when he rolls out of his cot onto me with a smile and a delighted “Mama!” as if returning to me after years away. I try to remind myself of how precious our time together is when he has a tantrum or insists on chocolate for breakfast.

This post has been hard for me to write. I have cried and relived moments that still cause me enormous pain. I have been composing it in my head for months, I just couldn’t bring myself to write it.

I hope you don’t think it was oversharing. Writing this has helped me order my chaotic thoughts. But most importantly, I wanted to make people familiar with the name of the disease. This is what I always ask of friends when they want to help – make noise, donate, raise awareness. The more people know, the more funds are raised, the faster we get to a cure.

Throughout our journey to this point, we have been cared for incredibly well by the Greek public healthcare system. We have been treated with great care. Every procedure followed met the current recommended international standard. We were from the start treated with a lot of kindness and patience. The doctors working in the Greek public system are heroes. They do an excellent job with limited resources. Even after being awake all night and dealing with the madness of overnight admissions that often overflowed into the corridor, they were still ready to patiently answer the questions we had about our son’s progress.

We are now primarily in the care of the Muscular Dystrophy Association of Greece. Once again, we have been treated very well and with a great deal of sensitivity. This organization runs on donations alone. I give their site below. Donating even one euro will make a difference.

http://www.mdahellas.gr/