For seven years Lewis had no diagnosis. We were told after every test and invasive procedure ... the results are normal. We were told Lewis is an enigma, a mystery. We kept on hoping he might get better. Then in July 2014 we received a letter from Lewis' geneticist to ask us to attend an appointment. After so many years of waiting, and after finding nothing on 2 years of the DDD study, we had put a diagnosis to the back of our minds. We had got used to Lewis' being a SWAN (Syndrome without a name) and we were happily snuggled within the SWAN UK community in our little bubble!
So we went along to the appointment expecting it to be a routine 'how are things? ... nothing new here .. see you in another couple of years'. Imagine my shock when the previously happy, jolly geneticist asked us to come in and sit down, his face grave and his usual smile absent. Honestly my first thought was 'oh he must have had a bad day'. The next words out of his mouth were ...'we have a diagnosis for Lewis'. Even writing that down now, and hearing those words again in my head makes me go cold. I almost got up out of my chair and walked out of that room. I had always thought I would welcome those words, but I realised I just didn't want to know. It didn't take me long to compose myself and put on that smile that all parents of poorly children know ... the 'I'm fine' smile that hides so very much of the reality going on inside.
The next 5, 10, 15, 30 minutes (I couldn’t tell you how long we were in that room) was spent with the doctor saying lots of very long medical words, studies, far away countries, rare, very rare, unknown until now, bla bla bla words we didn't understand. Then he told us something we could latch on to for Google later! He wrote the numbers and letters down on a scrap of paper and we got up to leave so we could hit Google as soon as we got out of his office! As I stood up, I jovially said 'well at least you didn't mention the dreaded Batten Disease!'
'Well .. its a kind of relative of typical batten disease.' he said and so of course we all sat down again. I dont remember much after that. I have flickers of what was said and what we did, we went to the hospital cafe to sit down, I remember that. I remember smiling and laughing and acting normal while I drank my Costa coffee. But mostly what I remember is being numb, of subconsciously refusing to accept this. Of acting 'normal'.
We did the required googling and found absolutely nothing about the numbers and letters on that scrap of paper. Absolutely nothing! Wow, this must be rare. There is nothing on the whole internet about it!
Several days later I was unable to sleep so I went on facebook (as you do!) and a friend of mine had 'liked' a photo of a little girl with a terminal illness. This little girl in New York looked just like Lewis (Lewis is often mistaken for a girl as he is so very beautiful!). I was intrigued. I clicked on the little girl's facebook page and more photos looked more like Lewis - not just in appearance, but also the way her disability presented. Her mouth agape permanently, the eyes usually staring up and to the side, the hands turned in, the slight but long arms and legs - I call Lewis' skinny minny because of his long thin arms and legs. I wanted to know more so I clicked on the 'About' and I saw the words Neuronal Ceroid Lipofuscinosis. The time spent in the geneticist's office came pouring into my memory. He had said those words about Lewis .. he had said Lewis has NEURONAL CEROID LIPOFUSCINOSIS!!! On this little girl's page, in brackets, next to Neuronal Ceroid Lipofuscinosis were the words (Batten Disease).
I immediately contacted Lewis' father and we arranged an appointment with Lewis' neurologist who confirmed to us that Lewis does indeed have Batten Disease. It is a new variant, but the life expectancy is 11 years of age. Lewis is 11. Every single second, minute, hour of my life is now spent immersing myself in Lewis. No matter what kind words people say, 'oh they might be wrong'. 'oh he's fine, look at him' ... we know the end of this story. And we know it isn't a happy one. And we also know it's just around the corner.
Mummy to a Hero, Mum to a Genius (@samanthatolmie)
SWAN UK is an initiative of Genetic Alliance UK.
SWAN UK offers support and information to families of children with undiagnosed genetic conditions.
To find out more about SWAN UK please visit their website.