Rare Disease Day - 28th February 2015

Georgia’s Story

Georgia's StoryJanuary 2013 was the month my husband Gareth and I found out we were going to be having another baby, overjoyed but nervous we kept this to ourselves for the first few months until the first scan, I remember driving to the hospital trying to prepare myself for this appointment (having had a few disappointing experiences before). We never expected to find out what we did (laughing as I type this and remembering our faces). Thankfully to our relief our baby was doing fine and so was baby no 2!! We were having TWINS !! It took several weeks for the news to eventually sink in, even now we still have moments and think “do we really have twins”, we are truly blessed. The girls were due on September 16th but due to lack of space and a kidney infection they decided to make an early arrival on August 2nd. Freya arrived first at 2.32pm then Georgia finally made an appearance 14mins later, because the girls were born early they were very quickly taken to NICU for some extra support, where they stayed for 3 weeks. We didn’t have many minutes with them when they arrived so we wasn’t aware of Georgia’s birthmark initially. Then after much needed tea and toast and when the girls had been settled into their new room we finally went to meet our beautiful daughters, they lay opposite each other looking so tiny in their incubators ‘a moment we will remember forever ‘. Fortunately our girls were a healthy weight for twins and therefore just needed some extra help to get them feeding over the next few weeks.

This is when we first noticed Georgia’s birthmark which covered the top half of her back shoulder to shoulder, we had never seen anything of this scale before and although presumed it was just a birthmark wasn’t exactly sure why was it this size? Was it permanent? What had caused it? We had many questions but at this stage was only concerned about making sure she was OK. Georgia was quickly seen by a dermatologist who explained that as Georgia was showing no early concerns in her observations they would refer her as an outpatient for an MRI scan and for a follow up appointment with dermatology. At this stage we just believed this was routine and although was aware that a scan looks for what can`t be seen we didn’t understand much more at this stage. It was a few weeks later when we had a follow up appointment when we started to realize what Georgia had wasn’t just a birthmark and the reason for doing the scan was to pick up rare cases of tumours, extra fluid on the brain that may require an operation and to also look for abnormalities on or around the spine. It also allows them to then monitor development more carefully in children with any MRI findings. Thankfully at this stage the news so far for Georgia was great !! her scan was clear…… Then the specialist at Kings mill hospital informed us that she would like to refer us to Great Ormond Street hospital because she believed Georgia had a condition called Congenital Melanocytic Naevi (CMN). Great Ormond Street had many specialists in this condition and she felt it would be in Georgia’s best interest to be referred there.

Georgia’s doctor at GOSH is Dr Kinsley who you may have seen on the caring matters now website, she is lovely!! we went along with so many questions as you can imagine and came out with everything answered and more. What it CMN? What causes it? What are the possible neurological problems? What about malignant melanoma?

Georgia’s birthmark is currently 10cm approx and goes half way down her back, although it hasn’t grown much more to date we have been told it will grow with her. She also has several smaller ones here and there. Georgia is currently healthy and well and developing just the same as her sister and any child of her age, we do have to keep good observations of her and take care that its not knocked or scrapped as they are very fragile. There are a few increased risks for her over her life time and possibilities of some development problems but these are suggested to be mild. There are options available to Georgia from a cosmetic point of view but at this stage we feel this should be something left to Georgia when she is older to make her own choices. Georgia will continue to be reviewed on a 6mthly basis and as a family we will all receive support from Caring Matters Now, via support groups, regional coordinators and the doctors, who have all been great to date. You do worry what the future holds especially in her school years but Georgia is already a very determined, cheeky and happy little lady and is surrounded by lots of family and friends who love her very much and will be there to support her.

Thank you for taking the time to read Georgia’s story to date, We felt as a family by sharing this it would help to raise a little more awareness.

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