Alice in Wonderland Part 2

So here we are, since July we have still been wondering the long corridors looking for that elusive white rabbit. We haven’t been back in the Geneticists room recently, as she directed us to other doors that led to testing rooms.

We sat and waited in the FOX1 gene waiting room. We waited and we waited, finally we were told we that we didn’t belong there the results were normal. This was one place the Geneticist thought could be a strong possibility. So we left the room, closing the door gently behind us, although the temptation to slam it was all too great.

I previously described the geneticist’s room as bright and airy, I have started to change my mind. It is starting to look grey. I haven’t been again since July, as the door is locked, it seems that she is very busy. Too busy to even write more than one sentence – ‘We have recieved the results for FOX1 gene and they are normal.’ No mention of the next step, her further thoughts. Nothing. Nada. Diddly squat. So I called her, we had to know what was happening next. She seemed interested at first, now it seems that interest has faded.

I finally got to speak to her and tell her that whilst I was wondering the corridors, I met people with children with Angelman Syndrome, they told me that they could see real similarities with Isabella and their children. She wasn’t impressed, I think she thought I was trying to do her job. I tried to explain that I was just a concerned Mum who didn’t want any opportunity to catch the white rabbit missed. It was in fact her who put the idea in my mind when she asked if Isabella had been tested for it. Up until that point I had never heard of it, yet now I did and the more I thought about it, the more it seemed to fit Isabella. She agreed to test her.

So we headed down to the waiting room. This wait was longer than the others, I think because for the first time I actually thought we may be onto to something. Whilst we were waiting we had to pop back to the Neurologists office. The results of the second MRI were in, they were normal. The Neurologist was truly puzzled, he said Isabella was like a puzzle. He said that he could refer us (if we wanted)to his collegue at Great Ormond Street Hospital (GOSH) He told us not to get our hopes up, but he may have seen someone like Isabella on his case load. We were estatic and said we would definately like to be referred. That too howver required a wait.

So we went back out into the corridor and headed back to the Angelman waiting room. Unfortunately it wasn’t to be. The results came in you have guessed it, normal. Again there was no mention of the next step. It annoyed me immensely, as if the geneticist really was baffled by Isabella it was okay to say so and refer her to the DDD study. (DDD stands for Decipering Developmental Disorders.) This study would be lengthy, but it would test ALL of Isabella’s genes. I called her again and she said she would look at Isabella’s file again. I am still not sure she actually did, as I still haven’t heard anything.

We waited patiently in the corridor, waiting to hear back from GOSH. It became slightly frustrating, as it felt like nothing else was being done. We had heard nothing from the Geneticist. I understand people are busy and they have other patients, but a phone call or a quick note to show that you are not forgotten goes a long way. Especially when you are milling around a long corridor surrounded by ticking clocks.

So we waited and waited. We have become quite good at this waiting around malarky. We are used to hearing, ‘It may take some time’, ‘It will be a few weeks until you here from us’, ‘You will get the results in a few months.’ I think you get the picture. We have spent the bset part of 2 years waiting, yet in a funny way the last two years seem to have flown by. The clocks seem to tick slowly whilst we are waiting, yet at the same time they are ticking at a sonic speed when it comes to Isabella growing up….

time-clock-watch

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