Tom, my husband, went with him and it transpired that it had taken many attempts to get blood from his tiny little ankle. Eventually, we were reunited and, after a couple of days in the hot cot, we were allowed to go home. This, however, was just the beginning of Charlie’s many struggles.Having breastfed Rosie until she was one, I considered myself a pro. Charlie had other ideas and would not latch on. When he did, he would tire easily and seemed to using me as a comfort. And so I found myself - still recovering from the birth – expressing milk all hours of the day, even doing it at my gran’s funeral. When the midwife came for his weekly check, his weight had dropped drastically and so we were admitted to hospital for what would be the first of many stays. I was determined to continue feeding him myself so was told to put Charlie on a strict schedule of timed feeds every two hours. His weight did improve and we were allowed home to enjoy Christmas together. During this time we noticed Charlie was suffering with what we thought was cradle cap: again, we were not concerned as Rosie had too. However, when it began to weep, we took him to the GP where they diagnosed first infected cradle cap, then eczema and prescribed antibiotics, which did not work as the rash spread all over his body. During all this time, his weight remained static, probably because his little body was using all its energy trying to make his skin better. I remember taking him to the GP in a babygro that was soaked through with seeping, sticky liquid and making her ring the Childrens’ Ward in a bid to get admitted which did not happen until the following day. We were kept in for a week and blood tests for thyroid function, liver function and various other things were carried out: all came back fine.

 

His skin continued to be the main concern for the next couple of months. He was constantly slathered in greasy creams and his gorgeous hair all fell out. The antibiotics didn’t seem to help and gave him terrible diahorrea, which in turn made his bum bleed: changing his nappy was a necessary evil. He was eventually diagnosed with seborrheic dermatitis which still today needs constant monitoring. However, his lack of weight gain was still causing concern and eventually I made the tough decision to stop expressing. I found this incredibly tough as I felt like I had failed Charlie by not giving him the same opportunities as Rosie: constant articles about the benefits of breastfeeding made me feel terrible. But at four months, his weight was a tiny 8lbs 15oz so it was clear he needed more than I could provide. Thus began our mission to get Charlie to gain weight. We moved him onto high-cal milk and made sure that, over 24 hours, his minimum calorie intake was enough to enable a satisfactory weight gain. On the dietician’s advice, we began weaning Charlie with baby rice and I even started making purees.However, towards the end of March 2010, things started going downhill. Charlie’s skin, which had previously seemed under control, flared up again and he began to not want his milk. His demeanour changed from a happy and interested little baby and he seemed listless and detached. His weight dropped and Tom and I began a two-hourly feeding regime, taking turns to get up through the night so we would have four hours sleep at a time. All this time we were aware of Rosie and making a conscious effort to ensure she was not denied our attention because of Charlie’s problems. How we survived this time I do not know. Charlie’s christening, which took place at the end of March, was the lowest point. In his photos he looks like a little old man he went from 10lb 2 to 8lb 14 in 5 days. He cried all day and only stopped when the vicar baptised him with the holy water. The following day, we went to A&E and were immediately admitted, where we would stay for over a week. His weight, at this point, was approx, one centimetre below the bottom centile on the weight chart.Still on the two-hourly feeding schedule, Charlie’s attitude to feeding changed noticeably. As soon as he realised it was feeding time, he would begin crying and as the most important thing was to put the weight back on him, we were encouraged to force-feed him. He was then diagnosed with thrush in his mouth but by this time, feeding clearly held many negative connotations for him. At the beginning of April, we decided to have an NG tube inserted. He would have this for 18 months.

 

The next few months passed in a blur of feeding schedules, vomit and calorie counting. Tests for cystic fibrosis andGastroesophageal reflux disease came back negative. The NG tube, while giving Charlie valuable calories, was a nightmare: it was a constant battle to keep the tape on with his vulnerable skin and he was constantly sick. However, we persevered with oral feeds as well as NG and his weight improved – despite his constant mission to pull his tube out. A videofluoroscopy was then booked for the beginning of June and both Tom and myself found this incredibly distressing. Charlie was upset throughout and when we were told by the speech and language therapist that aspiration had occurred, our first thought was that this could not be representative. We were told to immediately stop oral feeds due to the risk of choking despite the fact that he had never choked at home. Our concerns were brushed aside and we began feeding Charlie purely through the NG, with a gastrostomy recommended for September.

 

Quite apart from the feeding issues, which obviously occupied much of the day, it was clear that Charlie was not developing as normal babies would. The constant risk of him being sick meant he spent much of the day in his bouncy chair and it was months before he was able to hold his head up independently. We tried to let his problems affect our family life as little as possible: we went on holiday to France and ignored people’s intrusive and ignorant stares. Tom and I are very different people and dealt with Charlie’s problems very differently: Tom tried to measure every drop of sick and regive him the same amount, I was inclined to leave Charlie to recover as being constantly sick – up to 17 times a day – took it out of him. Once he even vomited his NG tube, which was still in place in his nose, out of his mouth. Referrals to a physio and Alder Hey followed along with an ECG and more blood tests, however the promised support to reintroduce oral feeding from the SALT did not and so we decided ourselves to postpone the gastrostomy so that Charlie could have another go at oral feeding.

 

Thus followed nearly a year of appointments and referrals in an attempt to get to the bottom of Charlie’s problems. He had a gastrostomy tube inserted in the summer of 2011 and this instantly made an incredible difference to Charlie’s quality of life. The spark that is now ever-present in his big green eyes returned and he began to progress in all areas, albeit at his own pace. Charlie developed into an extremely happy and sociable little boy, however it was clear from early on that he was severely delayed. When our consultant, who has always gone above and beyond when caring for Charlie, first suggested referral to a geneticist, we didn’t think it was necessary as our first instincts when considering genetics was diseases like cancer that might run in the family and we didn’t think this applied to Charlie. However, when we were referred in summer 2011 to the Feeding Team at Great Ormond Street and they mentioned that Charlie may have dysmorphic features, we realised that it was time to meet with the geneticist.

 

So, in September 2011, we were finally given the answer we had been waiting for. The geneticist had taken photos of Charlie to a national meeting and eight consultants had independently come up with the same diagnosis: Kabuki Syndrome. Like everyone else probably does, our first step was to Google the condition and it seemed like the list of features of a Kabuki child could have been written personally for Charlie. Finally having a reason for Charlie’s many problems was a relief, but at the same time, the fact he has a label that will stay with him for life was hard to take: it still is. The lack of UK-based support prompted Tom and I to contact other Kabuki families on Facebook and set up Kabuki UK. We hope that, in future, we can help newly-diagnosed families so that they never have to feel like we did.

 

Living with a child with Kabuki Syndrome is never easy. Quite apart from the fact that most medical professionals have not heard of it, let along treated a child with it, the lack of awareness means that we also have to deal with a lot of ignorance. Charlie is the happiest, most gorgeous and affectionate little boy you could every hope to meet, but every day brings reminders that he will never be what most people define as normal. While at home, he is able to be himself, to indulge in his constant mission to read books and display his funny quirks and be accepted for who he is, but when with his peers, he stands out: he wanders round in his own world and his loveable traits, as well as the fact that, at two-and-a-half, he does not speak recognisable words, immediately mark him out as different. We are lucky in that Rosie, who at five is incredibly mature, thoughtful and kind, sees Charlie not as a burden or a nuisance, but as her cheeky little brother and I know that she will always look out for him. We do not know what life holds for Charlie, but we can say for certain that there is not a boy in the world who is more loved and appreciated – just how he is.