When does rare not mean rare?

When it’s Rare Disease Day! Today, February 29th (the rarest day in the year) is Rare Disease Day 2016. A rare disease is defined by the EU as one that affects fewer than one in 2,000 people. But, add together all those rare diseases and one in 17 people – 3.5 million in the UK … Continue reading When does rare not mean rare?

What should I say? (On your second birthday)

What should I say, Benjamin, that I didn't say this time last year? What can I report? How have you changed? I remember the day of your birth so clearly: the turmoil, the fear, the sheer, sheer joy of holding you close and knowing that we had made the right choice. I remember your first … Continue reading What should I say? (On your second birthday)

No idea (an open letter to my MP)

Dear Mr Kerevan, Re: All party parliamentary group on rare, genetic and undiagnosed conditions I would like to introduce you to my son, Benjamin. Here he is enjoying some of our beautiful East Lothian sunshine. He is nearly two years old. Benjamin is thought to have a rare, undiagnosed, genetic disorder, which prevents his brain … Continue reading No idea (an open letter to my MP)

Fortune favours the brave?

In retrospect, I shouldn’t have looked at the twelve-week scan. I shouldn’t have marvelled at its perfect, 6 cm long little body, its stomach, bladder and beating heart, its tiny vertebrae, arms and legs. I shouldn’t have watched it leaping summersaults in my belly. It might then have been easier not to view it as … Continue reading Fortune favours the brave?

It will get easier

“It will get easier,” they said. Once he gets past the ‘two year old functioning as a new-born’ phase and into the ‘five year old functioning as a one year old’ phase it will be more rewarding, less thankless, more fun. Of course, there’s no guarantee he ever will move on from his present stage … Continue reading It will get easier

Normal

Not knowing the cause of Benjamin’s condition, or its likely prognosis, I am constantly alert for new symptoms, new complications, new things to worry about. Yet when I do notice anything is ‘not right’ with him, my response veers, wildly and randomly, between two extremes. On the one hand, I panic about every little thing. … Continue reading Normal