Rare Disease Day - 28th February 2015

Ava’s Story

Ava’s Story told by Emma

Most recent photo of Ava

Most recent photo of Ava

Two years earlier, 2008, I gave birth to my first child, Isaac, which was rather traumatic due to me having a retained placenta so I was apprehensive about giving birth again. However, I was really looking forward to that overwhelming emotion I felt instantly after giving birth to Isaac and the immediate love I felt as a mother of a new born baby. Consultants kept a close eye on the pregnancy with Ava; identifying me as ‘high risk’ due to the complications during the birth with Isaac and his birth weight of 9lb 9oz. The pregnancy second time around had gone as well as the first time and finally I went in to labour eight days over my due date.

It was like history repeating itself with another long labour of 18 hours but this time I didn’t need the pain relief as before as the final stage of labour came quickly and Ava was born weighing 8lb 10oz on the 14th May 2010, 10.50pm.

I was so happy that the birth had gone so well and I remember turning to my husband, Michael, who was crying, looking very overwhelmed. Whilst one midwife took Ava to weigh and wrap her, two midwives stood looking at each other looking concerned. I panicked as I thought it was going to be the same story and I’d have to go back down to theatre to have the placenta removed so I asked them if everything was okay and they told me it was fine. It was when they brought Ava to me and the midwife was trying to put her on my skin that I first noticed her body seemed to have a huge mark on it. Her skin was pink and the mark appeared to be dark purple; covering at least half of her stomach and back, down to her thighs. I asked Michael if he had seen it and he nodded. I asked the midwives what it was, unsure if it was bruising and they said they didn’t know but it looked like a birthmark.

Ava

Ava – Christmas 2013

At that moment I didn’t care if it was a birthmark, but I wasn’t convinced that Ava was going to be okay. When I held her I noticed she had smaller birthmarks on her face and scalp too. These were almost black. This seemed unusual as I had never seen a baby with anything like this before. It seemed the professionals felt the same. Moments later, we were surrounded by doctors who proceeded to take Ava to a changing table in the private room we were in, whilst Michael and I were left confused, scared and in slight shock. We overheard the doctors talking about melanoma which made us extremely upset.

Michael had to leave as it was very late but it was so sad that he had to leave with no answers. It was difficult announcing Ava’s birth to family and friends as we were unsure how to celebrate; we weren’t sure she was going to be okay. So Michael left to see his family, but before he did, a midwife said, ‘Well at least you don’t need to worry about her having one night stands, Dad.’ We were appalled.

The next morning we were told a doctor living in the area was coming in especially to see Ava. It was then that we were informed she had CMN (Congenital Melanocytic Naevi); that in the thirty years he had worked in the region he had never seen it and that they needed to speak to specialists from Birmingham Children’s Hospital and Great Ormond Street as they were experts in this very rare condition. As he told us of Ava’s diagnosis he showed us a picture in a very old book which he compared the appearance of Ava’s ‘giant trunk birthmark’ with. It looked exactly like Ava’s. Using such resources to inform us was concerning!

Ava dressed up - Christmas 2013

Ava dressed up – Christmas 2013

Michael and I made a promise to each other not to use the internet to find out more on CMN following the advice of the doctors. We agreed to wait for further information from the experts in Birmingham (Birmingham was our first choice as it was closer to home). My first night home I waited for Michael to sleep and that’s when I broke my promise. I wanted to know what we were going to deal with; I had to be strong for Ava, Michael, Isaac, my family and prepare myself (and family) for the unknown. To describe the emotions I felt that night is difficult but to put it simply, I was heartbroken. I wanted it all to be a dream. How were we going to deal with this? What was going to be the outcome for Ava?

In the early days it was very difficult; as we found out more we realised it was potentially life threatening. The consultants were also learning more and more and advised us that there could be complications with her brain and talked about the possibility of her having NCM (Neurocutaneous Melanosis) where the pigment-containing cells are found in the spinal cord and/or brain. All of the information was huge to comprehend and it felt like I had to detach myself emotionally to begin to understand what was going on. When we tried explaining to people about Ava’s condition we found that many chose to understand it merely as a birthmark and that our concerns were simply cosmetic. I found that very frustrating. It became more obvious how rare the condition was as we still had so much to learn. Days after her birth, Ava needed to have medical pictures taken and there was a bed waiting for her at Birmingham Children’s Hospital. The plan was to have the top layers of her large naevus removed (scraped off) to reduce the risk of malignant melanoma and to improve the appearance of her birthmark which covers approximately 70% of her body.

Ave, Brother & Dad

Ave, Brother & Dad

I remember coming off the phone in floods of tears as I really had no idea what we were about to put her through. It broke my heart that this wasn’t a day surgery matter (who was I kidding?) and we would have to leave behind Isaac too. I had no clue. Of course, I just wanted the best for Ava.

Three weeks after her birth we went to Birmingham and the Professor there took a huge weight off our shoulders. Because she knew so much about CMN it was a relief just to hear her speak positively about many cases. She decided that there would actually be more cons than pros if we were to go ahead with surgery but it was our choice. There was no evidence that it was going to help Ava or reduce the risk of malignant melanoma. I couldn’t wait to get back in the car for the 3 and a half hours drive back home. There was no way we were going to take the huge risks and for what?

The next steps were to observe her development and watch out for any signs of sickness. It was terrible when Ava was sick as Michael and I would worry if it was the beginning of something terrible developing. I went back to work and vowed to ‘get on’ to try and keep everything as normal as possible. Ava had regular checks as babies do. Her health visitor became concerned about her flat head; Ava slept so well during the day we would often need to wake her. This became a concern as we would worry this was linked to her CMN. Following that Ava was referred for physiotherapy as the health visitor was concerned about Ava being reluctant to bear weight. Ava crawled much later than her brother and now as time went on we soon felt the pressure for Ava to begin walking. We tried not to worry if it was linked with her CMN and tried to put it down to her being a late developer but the physiotherapy sessions continued until she started walking.

We tried using various creams on Ava’s skin as she would thrust her body and rub her back in her cot. Her skin was breaking and very dry so we needed to apply steroid creams. We’d get various advice on this but we decided to stick to the advice of the CMN specialists!!!

Ava and I

Ava and I

Ava had three operations at Birmingham Children’s Hospital to remove the largest of the smaller birthmarks on her face and foot. One on her face had to be done in two steps. Ava was given gas to make her sleep before they gave her the anaesthetic. We cried when she went to theatre each time but we had to keep thinking about what she would want. It is difficult to make such decisions when all we want is the best for Ava.

When Ava had turned one year old I had a call from my mother-in-law about something she had seen on TV. A young lady, Jodi, appeared on ’60 second makeover’ and put forward her sister’s name to thank her for helping her deal with her life threatening condition. It was CMN. She recorded the episode for me so I listened carefully to what Jodi had to say about it. It was amazing to hear someone talk about the condition with experience! It was then that I learned about Caring Matters Now as Jodi founded the charity.

I searched on the internet and I came across so much more information! It had contact details of local members who support families and it even had a Facebook page for families of those suffering with CMN. I immediately called our closest contact in Bridlington when I was told to immediately refer Ava to Great Ormond Street Hospital. So I did! It wasn’t simple; it took a bit of paperwork and many phone calls to different health professionals but the day finally came for her first appointment there.

Ava and brother Isaac

Ava and brother Isaac

Doctor Kinsler was amazing. She got information from Birmingham and knew a lot about Ava. On our first visit we spent a long time having pictures taken. Ava also needed an x-ray to check the shape of her head. Even simple procedures were difficult; Ava was very young and wanted to move about. We had to grip her and hold her down to have pictures taken and x-rays whilst she screamed and cried. The next evening we received a phone call to go back to Great Ormond Street a week later. Ava was sedated to have an MRI to make sure her brain was normal. It wasn’t pleasant watching Ava fight the drugs, we had to grip her to stop her from hitting everyone around the bed but finally she came back to recovery and she was fine on waking.

It was an awful time waiting for the results. During that time I found a lump on Ava’s back. It was huge. I couldn’t believe one day there was nothing and the next a lump so big appeared. I called Great Ormond Street where they offered me an immediate appointment or as an alternative to get it checked locally. Whilst I was on the phone they told me they also had the results back from the MRI…it was normal. What a HUGE relief. It was strange that I felt like I wanted to be so happy but now we were dealing with something else I was scared to celebrate. Ava had to have an ultrasound scan which was extremely difficult. She screamed as Michael had to hold her down on the bed. The results were difficult to interpret as they felt they were unclear due to Ava being so traumatised and not being still. We were relieved to hear that this lump was completely normal with CMN and in fact in a very common place.

Last year, Doctor Kinsler told us that Ava has CMN syndrome which is the term they are using now so all health professionals understand that Ava has CMN with the exact facial characteristics too. Doctor Kinsler is tracking Ava’s growth as she is growing rapidly for her age which is the focus for current studies linked to CMN.
More recently Ava has had extensive problems with her dry skin. She now uses 3 different strengths of steroid creams when it’s at its worst as well as her emollient during the day. She also has medicine to make her drowsy each night to stop her from scratching so much and to ensure she gets a good sleep as until now we have had sleepless nights since birth.

Ava - 11 months

Ava – 11 months

Dealing with rude comments about Ava’s naevi has got easier over time; each time we are out as a whole family Michael and I expect a comment as this is all we have experienced since Ava was born. I have never tried to hide Ava’s condition. I was offered private checks at home when Ava was a baby but I refused and stripped her at the clinic for her weight checks like other parents do.

Moving house became a huge priority for us as we wanted to make sure Ava would be surrounded by caring and supportive staff at school. We would want that anyway, but knowing how supportive everyone is at Throston Primary School where I work, Michael and I agreed that it would be easier for Ava whilst at school to be where I am and also where close friends to me are. Their support has been invaluable.

Ava’s development has been much slower than average and we’re trying to put all the right steps in place for her but we are just amazed by her resilience. She is growing up to be a happy and confident girl and that is all we want. We know we are very lucky, not forgetting to be mindful of foreseeable problems.

Michael and I have found some stages more difficult than others and it hasn’t been easy at all. However, Ava is mighty fine. She is adorable just like her brothers. We now know what we need to look for and feel reassured knowing we can make a phone call to Great Ormond Street Hospital and get an urgent appointment if we wish.

Ava’s development and skin will continue to be monitored every 6 months at Great Ormond Street Hospital and at North Tees Hospital.

I cannot imagine going through this process without the help from this charity. When Ava is a little older we look forward to attending the family days organised by Caring Matters Now. This will not only help Michael and I by speaking with other parents going through the same but it will help Isaac understand his sister’s condition by meeting other children with CMN. Ultimately, Ava will make friends for life who she can share experiences with going through the same as her as she gets older. None of this would be possible without Caring Matters Now.

One Response to "Ava’s Story"

  • Kate M says:

    Such a touching and insightful story. What a wonderful and brave little girl and family! xxx

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