Saturday, 7 June 2008

The results

Firstly, sorry it's been a while since I last posted anything. Both our jobs have been very hectic over the last month or so and it's been hard to find time to fit everything in. Thank you to everyone who faithfully checks the site!

We received our genetic results this week and they were not as positive as we had hoped. Our geneticist told us that they had found the genetic "change" in Theo that they were expecting. This confirms the Kniest diagnosis reported by the post mortem. Having tested my blood, they also found the same genetic change in some of my blood cells. This means that I exhibit mosaicism in these cells - some of them are regular and some are dwarf!

It is safe to assume that at least some of my sperm cells are affected in the same way as this is how Theo got the condition. In the worst case scenario, all of them will be affected and this has led the geneticist to give us a 50% chance of recurrence. Although, potentially the risk could be lower than this, it is very difficult to determine what percentage of sperm cells are affected so they have to go with the worst case scenario.

The presence of a genetic marker means that pre-natal testing will be possible at about 11 weeks. At the moment, Clare and I are still coming to terms with the situation and so have no clear idea of what we are going to do next.

Prior to getting the news, we had already decided that it would be wise to seek the counsel of a couple in our church to help us along the way. In addition to this, we had also considered that professional counselling might be a good idea too. Now that we have the results, we are definitely going to proceed with both of these.

We are also planning to see the genetic counsellor again, once the dust has settled, to ask him further questions about our options.

Sorry to have to break this news to everyone via the blog. Both Clare and I really value your continued prayer and support!