We had our appointment yesterday at Great Ormond Street with the Neurosurgeon. I am pleased and relieved to report that they basically said yes, there are anomalies, and yes we need to keep an eye on them but everything should be ok. We were told there was a ‘theoretical risk’ to her Tabitha’s brain, but that it was just that, theoretical. We came out feeling great relief. They did ask us if we wanted Tabitha to have any more cosmetic procedures, to which we replied no. Tabitha does look slightly different and I accept that, but the MOST noticable thing about her is the oxygen tubing. Surgery won’t remove them.

The most useful thing was the meeting we had with the Geneticist. It was a very thorough meeting which lasted almost 2 hours. Although he didn’t have anything new to add about Tabitha, all her history is now on file in London and as time goes on and more patients are diagnosed, at least we are ‘on the books’. More blood has been taken, and more testing will be done on Tabitha to establish if she has any other deletions in her genome. According to the geneticist, it isn’t uncommon to find other smaller deletions in addition to the one major one. That could explain the large number of additional complications that she has. But we are just going to have to wait on that one.

Now that appointment is out of the way, we can just get back to the everyday business of getting on with life. It’s been hanging over us for a long time. I’m pleased it’s behind us now.