A death sentence has been lifted

MY HEALTH EXPERIENCE: CATHERINE DEARDENdescribes living in the 'black shadow' of Huntington's disease

I WAS SIX months pregnant with my second child when I discovered that Mark, my husband and father of my children, had a 50/50 chance of developing Huntington’s disease, the fatal degenerative brain disorder for which there is, at present, no cure.

Mark’s father had just been diagnosed with the disease that had killed his own mother and aunt in their early 60s. Each child of a person with Huntington’s disease has a one in two chance of inheriting the fatal gene, and everyone who carries the gene develops the disease.

The revelation left both of us stunned, Mark remembering his grandmother at 60, a wasted shell in a nursing home, incontinent and unaware of anything around her; my thoughts immediately on my 18-month-old daughter and the child kicking inside me. If Mark had the Huntington’s gene, then both of my children also had a 50 per cent chance of developing the disease. And as if that wasn’t enough, another version of the disease – Juvenile Huntington’s – could begin in children as early as two. Children who develop Huntington’s rarely live to adulthood.

I felt myself sinking into a quagmire of self-pity and worry about the future, and my daughter’s concerned face appearing at my knee as I sat in tears set me off into more floods, imagining the worst. I thought of Mark – an incredibly fit 31 year old with an insatiable appetite for life – becoming a brain-dead physical wreck, and knew he would rather die. HD, also known as Huntington’s Chorea, typically begins in midlife, between the ages of 30 and 45.

The internet proved a rich source of research on the subject, and I spent hours glued to the screen filling myself up with the facts. Still a relatively recently diagnosed illness, Huntington’s – sometimes confused with Alzheimer’s or dementia – gradually diminishes a person’s ability to think, talk, reason and walk.

Early symptoms of HD include depression, mood swings, forgetfulness, clumsiness, involuntary twitching and lack of co-ordination. Cells in the caudate nucleus of the brain begin to die, causing a relentless deterioration of intellectual ability, emotional control, balance and speech. Involuntary movement, or chorea, is nearly always a symptom as well.

As the disease progresses, concentration and short-term memory diminish and involuntary movements of the head, body and limbs increase. Walking, speaking and swallowing abilities deteriorate. Eventually, a person with HD becomes totally dependent upon others for their care, and will usually die within 10 years of the first obvious symptoms appearing, from complications such as choking, pneumonia or heart failure.

Named after Dr George Huntington, who first described the hereditary disorder in 1872, HD is now recognised as a common genetic disorder and affects as many people as haemophilia, cystic fibrosis or muscular dystrophy. It is believed that every one in 10,000 people has the HD gene. The HD Association of Ireland estimates that more than 400 people have the illness in the Republic and at least 2,000 individuals are at risk of developing the condition.

The gene which causes the disease was finally isolated in 1993, and a predictive test is available for people who are worried about contracting the disease. People planning marriage and children with someone at risk of Huntington’s are advised to seek advice, and foetal testing is a recent development.

Both Mark and I were determined not to be dragged down by our fears. Mark was only 31 and could have another 20 years before the disease took hold if he had inherited it, and of course there was a 50 per cent chance he didn’t carry the HD gene at all, and our children would also be spared. Huntington’s doesn’t skip a generation.

A one in two chance? For me it seemed impossible to believe that we would be the lucky ones. A pessimistic nature and my Catholic sense of guilt meant I secretly believed that he had the HD gene and that my children did too.

The news of HD in the family changed the course of our lives irrevocably. Mark had to consider his own mortality for the first time. We decided to sell our flat in London and move to the north of England. I felt we needed a fresh start, away from people we knew. Fewer money worries and less stress were also an objective, since that is known to be key in accelerating the onset of Huntington’s.

The more I learned about Huntington’s, the more I discovered that it is a disease many people treat with contempt. There is the same fear and ignorance surrounding dementia in all its forms as there is Aids and mental illnesses such as schizophrenia. Some speculate that some “witches” hounded and killed in the middle ages may have had HD.

Huntingdon’s is not always given as the cause of death on death certificates, partly because other illnesses such as pneumonia are the physical cause of death in the later stages. Often sufferers’ children don’t want to be tarred with the same brush – and it renders them uninsurable. It is still a taboo subject in most circles and I read many stories about sufferers being abandoned by their relatives.

We sold our London flat and bought a house on the outskirts of Manchester, and I gave birth to a son. During my labour all thoughts of anything other than giving birth went out of my head while I focused on the job in hand. But there it was, a few minutes after I held tiny Joe in my arms, that little voice in my head: “He’s probably got it too.”

When I lay with Joe afterwards, marvelling at the beautiful boy that I now had, re-counting his fingers and toes, eating him up with my eyes, the tears welled up inside me as all my fears came flooding in. I smiled at Mark and whispered, “You have a son”, while inside I was screwed up with pain, screaming, “Please, please don’t let him have the gene.”

So I kept my head in the sand. We had moved to a new city where we knew no one – and no one knew us. Joining various playgroups and classes I met other mothers and made friends easily. But I found it difficult to be happy. I couldn’t tell anyone what was going on. The two friends who I had told back in London made it clear they’d rather I hadn’t spilled the beans. So I kept my thoughts to myself, stored it all up and cried myself to sleep at night. Looking back now I see I was sinking into depression, but I wasn’t aware of it at the time, as few people are when it first begins.

Whenever I heard Mark’s father struggling to speak over the phone or, staying with us once, trying to remember where he was, I couldn’t help but wonder whether the love of my life would soon become a stranger to me. I was so convinced he had the gene that every time Mark forgot someone’s name or lost his keys I “knew” HD was the cause. I started to look for physical signs of Huntington’s in his face and body: jerky movements or tics. I became obsessed with finding proof while praying that it had all been a horrible mistake and we would be spared.

How could life continue as normal? I became increasingly irritable and withdrawn, and for the first time in his life Mark also sank into depression. Our relationship continued to deteriorate and both of us began drinking more, spending more time with friends, away from each other. I remember thinking at one point that already we had become strangers – practising for when it “really” happened.

One evening Mark arranged babysitting and took me out to dinner. He told me that after six months of counselling behind my back, he had secretly done the predictive DNA test I feared so much. For him the uncertainty was worse than knowing his fate.

He didn’t carry the fatal gene.

A year of worry and losing sleep and weight and forgetting how to laugh and love were all released in that moment, and I cried and laughed and wept with relief and shouted with joy, not caring that the other people in the restaurant were looking. Mark asked me to marry him and I immediately said yes.

The respect I had for him for taking that test and the relief I felt were overwhelming, and in that moment, I felt the black shadow hanging over us all had lifted. For the first time in nearly three years I knew I would be able to look at our children with joy and not fear for the future.

The next morning when they awoke they were confused by the tears pouring down my smiling face as I hugged them tightly to me, but content with the explanation that mummy was feeling particularly happy that day.

The timing of the test results could not have been better: I discovered I was pregnant a month afterwards and was able to feel real joy at the new life inside me.

Sadly, three months before our third child was due, Mark’s father died at the age of 54. His life had been devastated by the disease.

Every day in the UK and the Republic, thousands of people wake up with the black cloud of HD hanging over them, and a large percentage of these are children.

Stem cell research is proving a ray of hope, drugs are being tested, and US researchers have found a compound that interferes with the progress of HD, but at present there is nothing that can repair damaged brain cells.

Woody Guthrie is the only high profile sufferer of the disease to date, but the more people who know about Huntington’s disease, the more pressure on the medical establishment to develop treatment. The HD association funds medical and scientific research, and campaigns for improved services for sufferers as well as greater public understanding of the condition.

Although Mark’s personal death sentence has been lifted, there are thousands of people who are not so lucky.

For more information about Huntington’s disease, see huntingtons.ie and hda.org.uk