Getting through your big checkup scans during pregnancy and the excitement of bringing a little life into the world, definitely pushes any thoughts out the way that you may face a very different journey to what you expect. We soon learnt that our journey with our little girl would be remarkably different to that of other parents. As hard a journey it has been at times and will continue to be, Emily has completely stolen our hearts and made us feel love that we never imagined before…

Putting things in writing makes it real and in making it real, makes one relive every emotion described. I have been dreading writing our journey down, because where do I start, and do I really have the strength to relive it all?

I had a difficult pregnancy and so when my water broke at around 11.30pm on 19^th April 2018, three weeks early, I was ready for action and so excited to meet our little girl. Husband Ryann didn’t believe my water had broken until he stepped in a puddle of it on the floor!

I had hoped my birthing experience would be easier than my difficult pregnancy. Sadly, this was not the case. We have two fur babies (dogs) and the one, Marcus, started coughing up blood so Ryann had to rush him off to an emergency vet and leave me with my mom until he was able to get back just in time for the contractions to up to the next level of pain. The 27 hours of waiting and contractions (with some passing out in between), getting to 9cm of dilation only to be told that Emily was stuck and given the circumstances and risk of infection being high, I had to have an emergency C-section. At this point, the first bout of tears hit me.

The birth of Emily

Emily was lifted above the blanket for me to see her and my eyes now wept happy tears to meet my baby girl. The cone-like shape of her head told us that she had tried her hardest to get out but did get stuck. Up until this point, my journey is not much different to many other moms out there.

The moment that I realised our journey with Emily was going to be different to that of most new parents, was when she was put on my chest. At that point though, I didn’t know how different. I immediately turned to Ryann and said “it is like someone poured tar on our baby”. Both Ryann and I and all the medical professionals in the room knew this wasn’t normal but had no idea what it was. Emily’s back and scalp were covered in a thick, black skin which looked a bit like that of a lizard or elephant. She had similar looking skin in spots all over her body.

I became nauseous shortly after this, but this didn’t last long as Emily, clearly having the hungry Dean genes, was eager to latch and I had to put my emotions aside and realise this little girl needed her mom.

Absolutely exhausted, operating on 3 days of no sleep, Ryann and I now set about trying to determine what was going on with Emily’s skin. Emily decided to surprise us on the Saturday of a long weekend and therefore there were no doctors around for consultation. The first doctor, being a dermatologist, was only able to see us on Monday.

Ryann’s nature amongst many other incredible characteristics, is one of perseverance. He googled incessantly until his knowledge of Emily’s condition surpassed that of the dermatologist who saw us on Monday.

To say that we were disappointed by said dermatologist would be the euphemism of the century. Her words having arrived clearly having done no research were “there is nothing we can do now – just come back and see me in six months”. I burst into tears as she left the room and was soon joined by Ryann. Writing this now, the tears stream down my face.

When you first saw Emily, your immediate concern was a cosmetic one as she is a little girl and as sad as it is to admit, this world can be cruel. However, Ryann’s research confirmed to us that this was potentially much more than a cosmetic condition and being so rare there was so much that was unknown with worst-case prognosis, being death.

Getting in contact with the right doctors

We continued to research, having self-diagnosed Emily’s condition as Congenital Melanocytic Nevus (CMN). We found the various Nevus organisations, support groups and joined and contacted everyone.

We subsequently found a dermatologist, Dr Whitaker, who saw the few other children in Cape Town with CMN and contacted her immediately to make an appointment. The other concern we had, was that on top of the thick black skin on Emily’s back, she had bleeding raised nodules. This was concerning as children can be born with cancer (congenital melanoma). Dr Whitaker insisted to have this biopsied immediately. The biopsy meant that Emily would have to be put under anesthetic but if she had been born with cancer, then time was of the very essence.

Anesthesia is scary in itself and even though there is no conclusive evidence given no one will do vigorous testing on babies, there are warnings about the risks of developmental delay. Finding specialist anesthetists who would be anesthetizing a new born baby is harder than one would think. At this point, Ryann and I decided that the cancer risks outweighed the risk and so the biopsy was crucial and we needed to do some more research.

We were lucky, incredibly lucky, to meet the next doctor. Ryann’s mom phoned Aunty Ros who used to work at Red Cross Children’s Hospital. Aunty Ros put us in contact with a dermatologist there, Dr Carol Hlela. She was the most wonderful woman who took a cold call from concerned parents on a weekend and did not hesitate to help us. Emily has the effect of touching hearts and as this was the case too with Dr Carol Hlela, we have stayed in contact since being introduced to her. Dr Carol Hlela  put us in contact with Dr Pillay, a plastic surgeon at Red Cross. Dr Pillay is the most kind, gentle and caring person who not only gave us options but also hope. He talked us through some things we could consider and then put us in touch with Professor Hudson, another plastic surgeon, who had seen a case like Emily’s before. Professor Hudson advised us to act soon and so at 3 weeks old, Emily had her first procedure.

I know that many people may read this and question why we did this. The one thing that scared me the most about the support groups on Facebook is how they fought with each other over difference in opinions. Some are pro-removal whereas some are not and both have valid reasons for their opinions. We decided to go ahead with the procedure because we were scared of the worst-case prognosis being death. We did not fully remove the skin but took the top layer off to reduce the melanocytic load (i.e. reduce cancer risk). The skin was also rough and fragile and ultimately would have suffered in terms of functionality. The procedure Emily underwent would improve all of this.

The other consideration was that a further complication (much more rare than the already very rare CMN) is Neurocutaneous Melanosis (NCM), where there are lesions in the brain/brain lining. This requires an MRI to confirm, ideally prior to 6 months of age before myelination occurs which can obscure the results.

Emily’s first procedure

For Emily’s first procedure, we were petrified. We also wanted to try and fit in an MRI to reduce the amount of times she had to go under anesthetic and were hoping to do everything at once. Unfortunately, the facilities at the hospital were not adequate so we had to postpone that. At this point Professor Hudson introduced us to probably the most important person in Emily’s journey, Dr Saleigh Adams. Dr Adams used a technique on her that had never been used on her condition before (and hopefully he will be writing a paper in the future in collaboration with Professor Hudson and Dr Pillay). I won’t go into detail about this here as I want to talk more about the journey. I will also leave the details about all the procedures out of here. The night before the first procedure, we got a call from the anesthetist who asked us if it was absolutely necessary to do this because of the risk of anesthetic and after hearing about Emily and all the risks if we did not do the procedure, she agreed to go ahead. We so appreciated this call and concern but it did have the effect of increasing the nerves we were already feeling.

First procedure aside, Emily has been under anesthetic 10 times since. Two MRIs, multiple procedures and multiple bandage changes. Emily is treated like a burn patient and therefore changing bandages after the procedure can be extremely painful which is why she had to go under anesthetic. The last few changes of the procedure we try and soak her in a bath to avoid further anesthesia. Of all the procedures Emily has had, the one where I was the weakest was the one where they picked up an infection. It was a scary time and the longest stint in the hospital. I knew when Dr Adams who is generally the cheeriest and most positive doctor, came in with his head hung low and told us that we had a hiccup. At this point, I felt my heart sink to the floor. I told Ryann that morning that I had a bad feeling whilst he had a good feeling, but when the bandage changes procedure took 3 hours instead of the prescribed 1, we both knew that something wasn’t right.

My maternity leave was spent at the hospital for what felt like an eternity. When Emily wasn’t in ICU, Ryann and I took it in turns sleeping at the hospital. I am a very light sleeper so coupled with the stress and anxiety, it is safe to say that Ryann and I were operating on adrenaline alone.

MRI

I shared a post on social media when we received the results of the MRI. It felt like it was never going to end and our biggest fear was confirmed. Emily has Neurocutaneous Melanosis in addition to having CMN. This was an extract from my Facebook post.

‘’There was a 0.0002% chance that she was born with Congenital Melanocytic Nevus (CMN), which she was (also one of the worst cases given the large Nevus on her back). There was then a further 7% chance that this CMN was actually Neurocutaneous Melanosis, which the MRI this week confirmed she also has. There is a 50% chance that she doesn’t show symptoms and that these cells on her brain don’t effect her development. Symptoms typically only present themselves after a year but given the rarity of the disease, we are exploring everything further. ‘’

The day we were told that Emily has Neurocutaneous Melanosis was another day where Ryann and I shared many tears.  Ryann left work immediately upon receiving the results and we allowed ourselves the day to be sad together. We agreed that the next day, we were going to be positive again and will stay positive for our little girl.

To date, Emily has shown no symptoms of Neurocutaneous Melanosis, but it may be too soon to tell as symptoms, if any, usually only present themselves after a year. This means that the list of specialists lengthens with the potential addition of neurologists and neurosurgeons. What are the symptoms of Neurocutaneous Melanosis? It could be (but not limited to) learning disabilities, seizures and hydrocephalus. Depending on the extent and severity the worst-case scenario is death.

How do I cope?

Coping would not be possible without my husband, Ryann. He is my world, my pillar and my partner through everything. We work well as a team, working off each other’s strengths and we look after each other. He makes me feel strong because he always tells people how much I impress him with my strength. I became nervous of his expectation of my strength as I knew that I could falter, but he assured me that I had already proved my strength to him and there was no denying it existed. It is hard at times, because Ryann also works off my strength, so if I do have a bad day, Ryann often does too. But there is nothing wrong with being sad together and then moving forward together.

My second coping mechanism was the support of my family and friends. The sincerity and kindness from their messages and gestures was unbelievable. I actually have no words to thank every single one of you. What is truly incredible is that the support is continuous. I have spoken to a lot of people going through difficult times and one thing you can see for sure, is who your true friends are and also how many other special people there are in the world that come out to help and support.

My family. Goodness. I don’t even know where to start. Seeing the amount of love you have for our little Emily makes me at ease to know that she will have an amazing support structure to grow up with. I don’t know how I got so lucky in marrying into a family that now feels like immediate family. All my family have been an incredible pillar and support structure.

Seeing my friends and family and the amount of love they pour into Emily makes me so happy to know she will always be loved. That gives me the strength I need.

Lastly, in all honestly, I have to cope. Do I have a choice? No. I live for my baby now and I need to be strong for her. I don’t have time to lose myself because Emily needs me. She gives me strength to live for her.

Common questions
I have all the time in the world for people with tact who want to ask me questions about Emily. I have had faces pulled at Emily in public to the extent that I had to actually turn around to someone and pull the same face back to only be returned with a sudden awkward smile because they realized I caught them staring with their judgement and scrutiny written all over their face. I have been asked if I smoked while I was pregnant and if that was what caused Emily’s condition. I have also been categorically told that it is probably due to all the chemicals in food that we eat these days. Either way, apart from the ignorance, nastiness and blatant insensitivity, I wanted to share some common questions that I get asked. I often get asked if she has chicken pox (I have also been asked if she has a fungus) and I guess that for someone who hasn’t seen it before, it could look like that.

If you have another child, will it have the same condition?

No, I shared a video with someone with Emily’s condition on my Facebook page that I would like to share again (she has a baby). Emily will have the same probability that I had, or that you have of having a child with her condition which is 1 in 500 000.

Could we have not picked this up during pregnancy?

No, I guess it is the same thought process as saying – can you pick up hair colour or race in a scan?

Is there anything I could have done differently in my pregnancy?

I think when someone has a child with a rare condition, you ask yourself a lot of questions. Did I do something wrong? Unfortunately, there was nothing that would have changed this outcome.

If you have another child, will it have the same condition?

I have the same probability as anyone reading this of having another child with the same condition, so it is unlikely, but the probability is 1 in 500 000.

What does Emily’s journey look like going forward?

We will try and reduce the melanocytic load and any areas where the skin my affect the functionality (e.g. her finger) and so her next procedure is in April. We will continue to remain positive as her development is spot on at the moment. She is such a happy baby, has so much energy and learns new things daily. Emily’s life will not be normal as people can be cruel and insensitive, but one thing I know for sure is that Ryann and I and many, many others have her back no matter what. I will continue to seek guidance and advice so that I bring her up in the most positive light so that she has the confidence that she will need in this world.

This little girl has and will continue to have a profound effect on all those who meet her. She is different, she is special and most importantly, she is ours and we are hers. Our journey has not been an easy one but I wouldn’t change it for anything.

Thanks for joining me!

Good company in a journey makes the way seem shorter. — Izaak Walton