Life was bleak and I could see no escape from my family curse. But then I made a shocking discovery. By Deanne James, 31

I was 18 years old, and, having suffered with unexplained illness for my entire life, I finally had a devastating diagnosis: Anderson Fabry’s. A rare, painful, and life-limiting genetic disease.

Throughout our childhood, my two younger brothers and I often fell ill with unexplained symptoms. We experienced burning sensations, pain all over our bodies, and couldn’t control our temperature, going from boiling one minute to freezing the next.

Our mum suffered similar ailments, and yet every time we went to doctors for help, they were stumped.

Several times, it was suggested that our condition might simply be psychological. But we all knew our symptoms were real.

During my teenage years, my symptoms only worsened, making me miserable. I suffered from achy pain and fatigue so severe I could barely stay awake at school. I quickly fell behind.

For so long, our family felt as if we were going mad, with no way or name to explain what was happening to us. It wasn’t until Mum thought to look into the background of her absent father that the pieces finally fell into place.

It turned out that my runaway grandfather carried Fabry’s disease, an inherited, degenerative condition with no known cure. He had passed it down to my mum, my two brothers, and me.

When Mum broke the news, I was devastated. ‘I’m sorry love,’ she wrapped me up in a hug as I sobbed into her shoulder.

Sufferers of Fabry’s can expect a limited life expectancy. I was supposed to be enjoying the best years of my life, but instead, I’d been handed an early death sentence.

To make matters worse, just days after I received this blow, I was diagnosed with endometriosis, a painful inflammatory condition affecting my womb.

‘It’s unlikely you’ll ever conceive,’ the doctor told me as he prescribed the contraceptive pill to treat my symptoms.

In that moment, my whole future crumbled around me. All I could envision was a lifetime of hospital visits, taking medication, and being in pain.

Over the following years, I spiralled into a deep depression. I started drinking to cope and headed down a self-destructive path, unable to see the point in going on.

I’m going to die early anyway, I shrugged as I drained another glass of wine.

At the time, I had an on-and-off relationship with an old family friend, Steve. We’d known each other since we were kids, and had even been neighbours at one point, but he too was going through a dark patch in his life.

His son from a previous relationship had recently died, and Steve was planning to emigrate to Canada to find work and get away from it all. I was sure it would be the last I saw of him.

So, at 27 years old, nine years after my diagnosis, I began to stock up bottles of my pain medication.

What had started as a vague idea to take my own life slowly formed into a real plan. I calculated the amount of pills I needed, and set a date to take them.

But just two days before I’d planned to take the deadly dose of tablets, I woke up in agony. I had searing pain in my abdomen, so intense that I could barely catch my breath. Unable to stand it any longer, I went to A&E for help.

When the nurse asked for a urine sample I thought nothing of it. Probably kidney stones, I thought. Just my luck. But nothing could have prepared me for what she said next.

‘You’re pregnant,’ she announced, matter of factly. I fell silent, unable to process what I’d just been told.

‘But… I can’t get pregnant,’ I insisted. ‘There must be some kind of mistake. I’m infertile - and I’m on the pill!’

‘Congratulations,’ she smiled briefly, unsure how to respond to the mixture of fear and joy in my expression.

I couldn’t believe what I was hearing. It didn’t make sense - but it felt like a sign. In an instant, I regained my will to live.

I knew I had to stay alive for this baby. With a tiny life now depending on mine, I had something to live for. Just in the nick of time.

But my mind started racing. What would Steve say? And what about my illness? How could I live with myself knowing my baby might suffer like me?

I took a deep breath before breaking the news to Steve. He was due to leave for Canada in a matter of weeks, and our relationship had always been fairly casual.

I was certain he’d take it badly, and from the second I found out, I’d been preparing for the prospect of single parenthood.

‘I’m going to be here - for you both,’ smiled Steve, pulling me in for a hug. The relief was immense, but fleeting.

As a female carrier of Fabry’s, although it wasn’t certain I’d pass on the condition to my baby as it is for male carriers, there was a 50/50 chance.

The odds were frightening and throughout the pregnancy, I was filled with a mixture of excitement and terror.

The baby had brought me and Steve together - and saved my life - but I was tortured by the thought of handing my child an early death sentence.

Doctors monitored me closely, scanning me 11 times to check the baby’s progress, but there was no way of testing for Fabry’s until he arrived.

Strangely enough, my Fabry’s symptoms actually improved whilst I was pregnant, and I felt better than I had in years.

Eventually, after an extremely difficult labour, Bobby was born on 2nd September 2014. But we weren’t out of the woods yet.

‘What is it, what’s happening?’ I said, straining to see my little boy, as he began having seizures.

Fearing the worst, Steve and I begged doctors to perform the necessary genetic tests. ‘Please, I just need to know - even if it’s bad news,’ I sobbed.

But we were passed from department to department until eventually, we were told we’d need to approach a specialist hospital.

The wait was agonising and meanwhile, Bobby had begun getting fevers - the same tell-tale symptom I’d suffered with as a child.

Please let him be ok, I willed silently. The stress of the ordeal began to affect my relationship with Steve, until a few months after Bobby’s birth, we were close to breaking point.

Then finally, when Bobby was 17 months old, he was eventually tested. I felt a sickening nervous knot tighten in my stomach as we waited for news from the doctors.

Then the result came back that we hadn’t dared to hope for: Bobby was free of Anderson Fabry’s.

Steve and I couldn’t believe our luck. ‘He’s perfectly healthy,’ the consultant smiled. ‘Thank you,’ I gasped. ‘Thank you so much.’

It felt like a huge weight lifted from our shoulders. Our little boy had turned out to be a miracle in every way.

I still battle with Fabry’s but my little family has given me a new lease of life. Now, I look on the bright side of life and enjoy every precious moment with Steve and Bobby.

Just last year, when Bobby was two, Steve came home with a KFC bucket one night for dinner. Reaching into it, I was puzzled when he pulled out a little black box instead of fried chicken.

Slowly opening it, with a huge grin spreading across his face, Steve revealed the glittering ring inside and got down on one knee.

‘Will you marry me, Dee?’ he asked, and my heart leapt. ‘Where’s my dinner?!’ I joked, before wrapping my arms around him and giving him a resounding yes.

I could hardly believe that just a few years before, I’d been contemplating ending it all, and now, I was a mum and a bride-to-be.

In 2018, we’re planning to get married in Brighton, with little Bobby, now a thriving three-year-old, by our side.

It breaks my heart that I won’t be able to watch Bobby grow old and get married himself, but I love him more than anything. I gave my miracle baby life - and he saved mine.

Deanne wanted to raise awareness of her rare health condition when the team at Sell My Story helped her place her story in Take a Break, the biggest women's magazine in the country. If you or a family member are battling a rare condition and you want to talk about it in the national media, why not give us a call on 0117 973 3730.


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