Rare Disease Day - 28th February 2015

Rachel’s Story

Éirinn On 1st August 2012 at 1.28am our beautiful little daughter Éirinn entered the world in somewhat dramatic fashion. Looking back, I can honestly say that this was a blessing in disguise…after a 21 hour labour, Éirinn was placed on my chest and I noticed a little mark on her left ankle. She didn’t make a sound and was whipped away as the midwives worked at her and then finally she screamed as the air hit her lungs. I then had to be transferred by ambulance to the Ulster Hospital and go through a 4 hour surgery to remove my retained placenta, whilst Éirinn was placed in an incubator, watched by her father and visited by a team of doctors to examine the birthmarks that were also on her back…I don’t know how I didn’t notice these at first! I didn’t get to give her a cuddle until 7.30am, 6 hours after she was born. And I was somewhat confused when the midwife said ”I’m sorry about Éirinn”…what was she sorry about?? Even though I was exhausted and feeling completely dazed, I didn’t really understand why she was apologising to me…I genuinely felt lucky to be alive and yes, Éirinn had birthmarks, but who cares! I was alive, she was alive and as I got a re-cap from the apologetic midwife, doctors had checked her out and she was perfectly healthy. Not to mention she had the most gorgeous little face I had ever seen. So I can honestly say, I didn’t care one little bit about the birthmarks on her back.

Dr Alderdice (a top dermatologist in Northern Ireland) came to see Éirinn and said her back had a mixture of port wine staining and dark moles. He thought maybe laser treatment could be used to help remove them and arranged to meet us when Éirinn was a month old. Doctors also decided to schedule a brain scan and abdominal MRI when Éirinn was a little bit older, due to the extensive coverage of her birthmarks. After a few days in hospital for me to recover, we finally went home. Day 3 hormones did lead to some tears being shed though…more so thinking about Éirinn going to school and kids maybe teasing her etc about her back. But we were just so thankful to have our little daughter and for me to have survived the birth, that on the whole, we coped extremely well.

At 5 days old, we had our second scary ambulance trip. Éirinn had been twitching in her sleep and upon calling A&E they suggested we come down. They then contacted our paediatrician who asked for us to be transferred to the Ulster Hospital to undergo some tests. Again, I feel we dealt with the next few days quite well, although the hormonal rollercoaster I was on did not help and I had a few crying sessions. In particular when Éirinn was getting the line put in the front of her hand. In the next 2 days, Éirinn had an MRI on her head, an abdominal ultrasound and a EEG. Doctors explained some melanocytic lesions were present on her brain, but that they were quite small. They would repeat the MRI when she was a month old. And the twitching in her sleep, was innocent myoclonic jerks…something I actually do myself when I’m in a deep sleep.

Éirinn The repeat scan was however somewhat inconclusive, as Éirinn was wriggling about so much (there was no children’s MRI in Northern Ireland at that stage). Upon visiting Dr Alderdice, he explained that he really wouldn’t be the best person to treat Éirinn as her condition was so rare and suggested that we take Éirinn to Great Ormond Street Hospital (GOSH). At this, I burst into tears…although I’m claiming it was the hormones again! GOSH was for sick babies…Why were we going? Was Éirinn really ill?

However, our first visit to GOSH when Éirinn was 4 months old was like a breath of fresh air. We finally got a diagnosis; Éirinn had Congenital Melanocytic Nevus (CMN). Doctor Kinsler and Dr Lomas were world leading specialists in CMN and had seen many children like Éirinn before…so we weren’t the only ones! They spent a lot of time with us. They explained Éirinn would have a 10% risk of developing melanoma, so care in the sun was needed. They were satisfied that the lesions on her brain were innocent, as she was developing normally and reassured us as they could see Éirinn was thriving. They also informed us about Caring Matters Now…a charity dedicated to support families with CMN.

At first, I felt a little bit geeky contacting Caring Matters Now…I was almost nervous and from watching TV and films, I got this picture in my head of similar groups being like counselling or therapy. I just wasn’t sure what to expect. But we have found Caring Matters Now to be fantastic. We no longer feel alone and it is so refreshing to see other happy and healthy children with CMN. And to hear how accepting their friends are of the condition. We had our first ‘Chat and Play Day’ in Dublin in May this year and got to meet up with other CMN families in Ireland. It was great to meet the people I’d been chatting to on Facebook and felt like I’d known them for years. We were all bursting to talk and are already planning another meeting.

Éirinn visits GOSH once a year and we can contact Dr Kinsler and Dr Lomas at any time if we are worried. The nevus on her back has lightened dramatically since birth, and although hairs have developed, these can be lasered off when she is older. Over 200 satellites (like large freckles) have developed since birth and I explain to her cousins that these birthmarks are a sign of beauty and this is where the angels kissed her when she was in my belly! She is happy, healthy, way too smart and has the biggest personality for such a little person. We feel very blessed to have her.

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