After having a MRI and MRS scan on 3 April, today we had an appointment with Emily's neuro consultant in Southampton. After a few calls to check that the results had come back it was uncertain whether we would find out anything today. I must admit part if me didn't want to know what was going on in little Emily's head as I was frightened of hearing something horrible.
As soon as I woke up this morning my stomach dropped at the thought if what laid ahead today. Good thing about having two kids, well three if you count my husband is that you have to get up and get going, you just don't have the choice! Apart from being sick while hubby was having a shower I was fine. Luckily since I was pregnant with Emily he is used to it so took no notice of me barging in.
The journey there was pretty quick without any drama and Emily was in really good spirits (she always is to be fair).
Southampton hospital is like no other hospital I have ever come across. It is almost like a shopping mall when you first go in with various shops etc. I think it's a good thing, kind of puts you at ease slightly as it's not all long corridors that smell of illness and disinfectant.
Our consultant was running late but it was a good thing as Emily was due a bottle so had time to give it to her without rushing.
We were then called in. There was me, hubby, mum and sister in law. Rather a lot but I didn't know what the results were going to be so would rather the support and the consultant didn't seem to mind.
As predicted the consultant was very pleased with Emily's progress since we last saw her in December. Thankfully Emily played up to her by waving, clapping and babbling as she is normally so quiet with people she does not know. She must have known that we needed to show the real Emily!
The consultant went on to get the scans up on the computer and explained that the recent scan shows some progress in regards to the myelin in her head. The myelin is the fatty substance that insulates and protects nerves in her head. Although the scan was and still is worrying this is a very good thing. At this point my nerves started to relax slightly.
The radiologist has suggested two conditions that could result in a scan similar to Emily's. These conditions are Alexander's Disease and White Matter Vanishing Disease. Although these have been suggested by the radiologist our consultant isn't so sure from her clinical point of view as Emily's symptons do not correspond to the symptons of either of the two conditions. In fact the symptons seem the opposite to the symptoms that Emily is showing. To have these conditions you will typically have stiff limbs, be iratable, sickly to name a few and Emily is far from stiff, happy 99% of the time and apart from the odd upset tummy and cold she is thriving. Due to the conditions though she cannot rule them out as sometime symptoms can be slightly different to text book stuff. In order to test for these they have taken some of the GFAP (glial fibrillary acidic protein) DNA which was previously taken at our local hospital and sent off to London to be tested. We hope that this will take around six weeks. If positive I will get a call and if negative they will write to me. Fingers crossed I shall get a letter! Upon coming home and reading up about both conditions I am obviously worried as they are both life limiting conditions which are progressive and at the moment there is no cure or treatment however, I believe that they are working on a treatment for Alexanders disease.
The consultant wants Emily to have another MRI scan when she reaches two years of age as by this time her brain should have matured and no longer be wet. Obviously if it comes back positive for either of the two conditions above things will change. In the meantime Emily is being referred for Genetics councilling, a speach and language therapist and also to have a sleep study (hopefully at home) as she is holding her breath and choking when starting to breath again.
All in all we are very pleased with the appointment as was the consultant, who apologied for being so negative when we first met with her in December. Her words were Emily has gone and proved her wrong again! She was much more optimistic today although stumped at what is wrong with Emily. In the meantime she remains our little undiagnosed princess!
We have an appointment to see our local consultant on Monday, which I will blog about at some point next week.
I have wrote this blog from memory so please forgive me if I have missed bits out but will update with a post once I receive a letter which confirms the appointment today. Although I think I took most of the conversations in I know I would have forgotten bits.
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