Oh my GOSH!

A few weeks ago we finally recieved an appointment for GOSH. It felt strange, a bit surreal that our little girl would be visiting Great Ormond Street. That may sound odd and make no sense, since Isabella over the last two years has been in and out of JR Children’s hospital and seen several specialists and had lots of tests. I suppose GOSH is somewhere I heard of when I was little, raised money for it at school, watched TV programmes and cried. I just guess I never thought I would be taking my child there.

Friends and family had asked us what would happen at the appointment. We explained that he would look at her and talk to us and hopefully he would see something in Isabella that he had seen in other children, then we could do further genetic tests. How wrong we both were.

Time passed surprisingly quickly for a change and the morning of the appointment seemed to arrive out of nowhere. We decided to make a day of it and we spent the day in London and took Isabella to the Winter Wonderland in Hyde Park first. It was lovely and put us in a really festive mood, Isabella though,as usual was asleep!

We wanted to make sure we arrived on time so we slowly made our way across Hyde Park and down Oxford Street, towards the hospital. Secretly I think Paul was pleased we had no time for shopping. We finally found the right part of the hospital, it is huge with lots of different entrances and different parts to it. We checked in and sat and waited. My stomach started to ache, and I didn’t know why. I wasn’t nervous. I ignored it and took Isabella to the Playroom whilst we waited to be seen.

Our playtime was cut short and we made our way down the corridor, following the Doctor. I really couldn’t shift this uncomfortable feeling. When we sat down both of us did not expect to hear what we heard. The Neurologist firstly asked if we had any questions, Paul took the lead and explained that we know we may never get a diagnosis, but we want Isabella exposed to as many specialists as possible. When the Neurologist said he had a diagnosis for her, we both both were stunned. I now completely understand the term stunned into silence. He explained that he and his team at GOSH had got a diagnosis for Isabella. He turned to his computer screen and showed us Isabella’s MRI results. We had seen these before in another office. I remember glancing at the screen when I came in wondering why they were on there. Now I knew. We listened whilst the words came out of his mouth. He told us Isabella had Polymicrogyria (PMG) I remember thinking wow that sounds like a long and confusing word. Polymicrogyria.

My face must have expressed the deep shock, as he asked me if I was okay and if he needed to slow down. I told him I was fine, it was just we weren’t expecting to get a diagnosis, least of all a diagnosis from her MRI Scans.

He was very good and explained the condition in simple terms, but before he did he wanted to reassure us that it wasn’t degenerative. This means Isabella will not get any worse. He told us that when the brain develops, neurones migrate across the brain and make the wrinkles. He went on to say that a defected gene caused the neurones to migrate in the wrong direction, they were getting mixed signals. This meant the brain didn’t develop, as it should. He said the defective gene could be genetic or it could be sporadic in Isabella.

Paul and I looked at each other. We were shocked, stunned, yet happy, this was not how we thought it was going to go. He explained that the next step would be testing a particular gene that is common in the cases of Polymicrogyria. He stressed though, that like before results may come back normal, so we may never find our which gene caused the brain defect.

Paul and I both had questions. We wanted to know what the future held. He told us that cases of Polymicrogyria can be very different, as it all depends on how severely the brain has been affected. This means that like before there is still no prognosis for Isabella, which means that he cannot tell us what to expect in the future in relation to what Isabella will or won’t be able to do. So for Isabella nothing has changed she is still the same little girl she was before we received the diagnosis and we will still take things day by day. He said the treatment she is currently receiving will also remain the same. He did say however that children with this condition tend to have seizures. This is a very scary thought that has always been in the back of my mind, but if it happens we will have to be strong for Isabella and deal with the situation. What we can be though is prepared, to look for the signs and to know how to respond and how to respond quickly.

We sat there taking it all in, looking at each other, looking at Isabella who was smiling away as always. It was good news. Okay he mentioned seizures but this wasn’t anything new. The diagnosis was. We now had a diagnosis, something we have been longing for.

We have sat there and spoke at length about how we feel. Happy, shocked, overwhelmed so many feelings and emotions running through both our minds and dominating our thoughts. We are happy; happy to be given a diagnosis and so, so happy to learn that it is not degenerative. The road ahead is still long and unknown, but at least it is not as dark as it was before…we now have a little light guiding us through.

 

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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