The road to diagnosis
If ever I was tempted to be superstitious, 2013 certainly seemed to be a year that lived up to its number for a whole host of reasons. Gloom is not typically my life outlook, but lots of challenging life events did occur in 2013, of which the identification process of boy number two’s condition was one.
The year began with a trip in an ambulance for boy number two for what was a suspected seizure. We had been undergoing some tests on his hips previously for periods of immobility, tests which were all clear. Then he had a big episode of this inability to walk and appearing quite altered early in 2013. He was admitted to hospital for a range of tests.
The first of which was a brain scan to look for a ‘space occupying lesion’. As you may well imagine, this was a terrifying experience and my mind was galloping with fear on that particular morning. I had spotted that when the consultant returned to the ward to speak to parents after tests, sometimes he took them to a side room, and sometimes he had a chat on the ward. I couldn’t help but notice that those who were taken away came back rather sad and perplexed, and those who were spoken to on the ward were given either good news or the ‘we need to do more tests as we haven’t found anything yet’ response. As we sat on the ward, you can probably imagine that we did not want to be going to that side room. So we were delighted when the consultant spoke to us on the ward to tell us that they could not see either a blood clot causing strokes or a tumour in his brain.
This outcome did mean more tests however. So over the coming weeks and months boynumbertwo had blood tests, more brain scans, epilepsy investigations and eye tests. All of his tests came back clear, yet he was still experiencing severe movement problems at times and his development and speech seemed to have stopped progressing. He was proving to be a bit of a puzzle. We had appointments with many different hospital departments, and having gone through the process of ruling out the most common causes for his difficulties (tumour, stroke, epilepsy or chromosome irregularity), we were looking at a rare condition. So after about 18 months of investigation, the condition episodic ataxia type 1 was concluded. A little later on after the initial diagnosis, it was decided by us and the professionals involved that the condition was having a major impact on his development and quality of life. It was then that we took the decision to medicate. Since the start of his medication regime, he has started to make fantastic progress. I guess he is feeling well and when you are well, you can grow in every way. He has undergone so many horrible and intrusive tests, and he is an amazing little guy in the way in which he deals with it.
The whole process of his road to diagnosis (and particularly noticing people being taken to a side room for bad news) has helped me to reflect on my own professional practise and the way in which I talk to parents. A friend of mine also recently made a point that you only hear news from a professional once, and that once you hear it could be life changing,but that professional will give news to parents as a regular part of their job. So it is up to the professional to remember that, and be careful with how they speak to parents about their children.
That point has stuck with me (thank you Gail!) and whilst as an educational psychologist I am not delivering medically life changing news, I do often have discussions with families about news they are waiting to hear about their child’s needs and learning. I always remember how I feel as a parent when waiting to find out about my own child and being told something about him when I am speaking to parents with sensitive information.
I began with talking about the superstitious link to 2013, and at the risk of cliche, every cloud had a silver lining. The road to boynumbertwo’s diagnosis has allowed me to grow not only as a parent but also as a professional.