On 23 May 2013 Emily was born by emergency C Section due to Stage 3 meconium. As far as we were aware Emily was fine and healthy, spending just 48 hours in special care. It was as the weeks wore on we noticed that her head was rather large, she had minimal grip, slept a lot (more than a normal newborn), she had no head control and was very floppy. In the back on mind I knew something wasn't right but didn't really have anything to compare it with as our first born was very advanced and basically come out and looked around her.
At Emily's six week check the doctor was very concerned that she wasn't reaching all the normal milestones and she admitted us to our local hospital there and then with suspected water on the brain and told us to be prepared to be transferred to Southampton General Hospital for surgery. When we arrived we filled out all of the normal forms and was sent straight for a Ultrasound on her head. Fortunately this come back negative and were told that as my husband and myself have above average head circumferences that it was likely she was just taking after us. We were discharged with a view of seeing the Consultant in three months and to keep an eye on her in the meantime.
Things didn't really improve in the next three months when we saw the Consultant who then done another ultrasound which come back negative and also sent referrals for a MRI scan and also to Physiotherapy, Occupational Therapy, Dieticians, Opthalmology and Portage.
In October 2013 Emily had a MRI scan with local sedation. I was lucky enough to go into the scanning room with her as it was likely that she would wake with the noise. Needless to say she did but drifted off again once they administered some more of the sedative. The SAT machine then decided not to play ball and she had to be pulled out as all her vitals went down. Once that was rectified and she went back in the radiologist come in and asked if she had every had any surgery or was there any possibility that she could have metal in her head. At this point I was pretty emotional and stressed as you can imagine. The nurse that come with us gave her head a brush down and once again she was put back into the scanner to finish of the scan. It turned out she had a minute piece if metal in hair which we believe was transferred from the nurses hand when he stroked her to calm her when she woke when the scan was first started.
A few weeks later we were called back to see the Consultant who explained that the scan had come back 'abnormally worrying' however, the results did not correspond with any condition that they could put there finger on. The scan was described asmultiple foci of subcortical white matter They were now treating this as something rare and out if the ordinary we would need to be seen by a Neorology Consultant in Southampton. At this appointment Emily was also diagnosed with muscle development delay and macrocephaly (big head).
Unfortunately at this point our referral was lost between hospitals, once this was rectified we received an appointment for the middle of December.
We turned up at the appointment and was scared to say the least although by this time Emily had started physio which we were carrying on at home on a daily basis and her head control had really improved with just a small amount if lag.
When we were called I was shocked to say the least at the age of the Consultant however, saying that she was very polite and professional. Firstly she went through all the previous appointments and what we had discussed and then went onto checking Emily over to see what she could and couldn't do. It was at this point that she was diagnosed with being very hypermobile, being able to almost turn her ankles 360 degrees. Once Emily was dressed and we sat back down the Consultant went onto talk about the previous MRI scan. This was the point where I felt I had just been punched in the face and my world had ended. The Consultant spoke about a possible condition she believed Emily May have. She wouldn't tell me the name of the condition as she said that you will research it at home and there isn't a need to do this until she had been diagnosed. If Emily had this condition we would be looking at a life expectancy of approx 2 to 3 years. In order to test for this we would need to test for urinary organic acids, white cell enzymes, CK, lactate, plasma amino acids and urate. Taking bloods was not an issue as she sat on my lap as good as gold while the nurse done this however, the urine sample was another story. They gave us a little bag that goes over her lady bits and then you can put a nappy on as normal. Three hours it took to get a sample!
The first somehow leaking out by the time we managed to get her nappy off. These were the hardest and longest three hours of my life to date. I just sat there and cried with random people taking pity and passing me tissues. My mum that day was a rock as it must have been so hard for her too, I will never forget it.
The Consultant also mentioned that all of the conditions they were now looking at were potentially very severe and possibly life threatening. The above condition would be the worst case, she also said that she may have a condition that is so rare they never find out what it is, that she may develop and then go backwards or she may just develop to a certain point and then just stop.
Due to the date of the appointment we had to go through the whole of christmas not knowing whether Emily may or may not be with us to celebrate the next Christmases. Words cannot describe the feeling in your stomach day and night of pure dread. Throughout this time Emily was continuing to improve in baby steps and was getting stronger. Also those that know Emily will tell you, she is extremely happy and very very rarely cries which is brilliant so you know she isn't in any pain although I believe that she has a higher pain threshold than most babies.
Although I didn't have an appointment to see the Consultant until April 2014 she kept in contact every few weeks by telephone to catch up on Emily's progress and touch base in regards to the test results.
Christmas passed and I had come to accept that what will be will be and whatever happened she was still my wonderful beautiful little Emily and we would cross whatever bridge when we come across it. On the 2 January 2014 I had to make the most important call and that was to find out whether the main test had come back positive. Luckily for my nerves the Consultant was available to speak to me straight away and I will always remember her words and they were "I am pleased to confirm that Emily's results have come back negative and she does not have cavermans disease" I will always remember coming into the front room where my mum and my brother and his family were and telling them. We still had to wait on some other results which were genetics to come back but the Consultant was positive by this time as Emily was progressing, again in baby steps but anything is positive right?
As the main test had come back negative and also the white cell enzymes negative the next step was to carry out a MRI with contrast and MRS scan in Southampton to try and find out further what the condition could be that Emily has. As any of you that has been under the hospital know, the amount of time you have to wait between appointments is ridiculous and pretty unfair. We waited and waited for an appointment as the Consultant said she would put it down as urgent. Every day I would open our post box but with no luck. At the end of February I called the Consultants secretary who told me to call the MRI department as the referral had been done her end. I spoke to a very uppity lady who informed me that she was on the system as a routine scan and we should hear something in April in regards to the scan. I then called the Consultants secretary as I was less than happy with this, who then got the Consultant to call me. When the Consultant called me the next day she was under the impression that the scan had been done and dusted so to speak. The following week I got a call to say that Emily's scan had been scheduled for 3 April 2014. Although we had waited so long for the MRI and MRS scan as soon as I heard Emily had been booked in finally it sunk in that we may or may not find out what is wrong with her once and for all and we would no longer be plodding along waiting for appointments. While I know we need to find out whats wrong part if me thinks ignorance is bliss and what we don't know can't hurt us and will just cross the future as and when we have to.
Emily had her scan done last week and considering I was absolutely dreading it, it went better than expected and although I felt sick and wanted it over I was not the emotional stressed out mummy I thought I would be. This is down to my wonderful mum and my sister in law who were there with me and done a great job of keeping my mind off the whole thing. The only time I become panicked was when after an hour and quarter which was when we were told she would be back in recovery she wasn't! Sat in a small room watching people go up and down the corridor was the worst, especial when two gowned up professionals went running down towards the scanner room. Soon after the nurse come and got me to go and see Emily as she was crying. After a mummy cuddle she looked around her enjoying the attention and wondered what all the fuss was about.
We now have to wait until 24 April which is our next appointment with the Consultant to hopefully have the results and move forward somewhat. Emily is continuing to do well and although she isn't doing anything physically that a baby of her age should. However she has started to clap, wave and babble not to mention being the most happy and content baby that there can possibly be.
Until the appointment we need to remain positive and optimistic and deal with whatever we are told.
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