The Champ

I asked Lee to write a guest post today.  Here it is:

You’ve heard part of the story already so now picture the scene. Four days into a ‘new home, new baby’ scenario with my head stuck through a cat flap trying to remember whether it’s righty tighty or lefty loosey to get that awkward last screw in. I get a call from upstairs saying that Catherine’s waters have broken which I largely ignore (we have around a month to go before that could possibly happen). Turns out this wasn’t a joke and 20 minutes later we are on our way to hospital completely unprepared with Catherine still registered with a different hospital 70 miles away.

Anyway that all turned out fine with a birth that (to me at least) seemed relatively straightforward for Catherine although personally I did find managing my hunger quite discomforting, I was starving! I think our experiences at the hospital have been described in some detail so I won’t belabour it, but suffice it to say, our son’s appearance was pretty much what I would consider normal at birth i.e he was small, pink, wrinkly and making a lot of noise. He did have one small patch of skin that had rubbed off which the paediatrician was asking us about but I didn’t really think too much of this at the time. It was only after they had towelled him down prior to weighing him that it became glaringly obvious that something wasn’t right; most of his skin had started shedding away leaving a very raw red appearance. Elation and joy immediately turned to dread. It wasn’t only us panicking, confused and clueless at this point since its true that the hospital staff really did suggest wrapping him in a food bag (I still can’t quite work out why they would want to do that, but I don’t have an MD).

As I said I’m not going to go into too many details about the condition or the difficulties we have faced since it’s been covered elsewhere. I thought what might be useful are some general observations and some experiences during those early days since at least for me I think there were/are various stages to this process; these aren’t necessarily mutually exclusive, and they can reoccur.

Stage 1: Denial

Remember that diagnosis of Ichthyosis takes a while, so it led to me clinging on to some hope that my son couldn’t have Ichthyosis. The prevalence is estimated at 1 in 300,000 so how could he be the 1, it must just be some form of severe eczema or something like that which will get better. This denial and fear grew once I’d consulted google images. DO NOT do that! On a side note I dug out some old photos the other day and I must admit some of them shocked me. I can’t remember thinking at the time that the skin was anywhere near as red or blistered or sore as it was. There was definitely denial, and probably some coping mechanism to block out the severity of the situation.  I had to develop my emotional resilience in order to fulfil my requirements as a parent to take care of my son.

Before I move to the next stage I want to share with you a few diary entries I made in the early days. These were really just to monitor his general health day to day to try and get a handle on whether things were improving or deteriorating and helped us to assess which creams and dressings were and weren’t working in various scenarios (e.g blistering, heat etc.). Trust me, there are a LOT of creams to choose from and different creams seem to affect people differently. By now we must have a hundred various permutations depending on what his skin looks like on any given day. Below are the actual notes I wrote on my phone before I went to sleep each night in an effort to retain some form of control of the situation, I haven’t modified them.

July 7 2013. Age 6 weeks +3.

Weather 22 degrees.

Tough day today. Alfie suffers when it's particularly hot. Arms dry and red/sore in places. Legs peeling quite bad above the knee area and on shin. Right leg worse than left.

Blistering and peeling around the naval area and some on lower back- mostly where the top of nappy is.

Face, head and back of neck clear. Hands and feet mostly clear. Alfie seems content having slept well. Eaten less than usual, may be due to heat (690ml).

Treatment: Used Epiderm cream all over. This seems to be effective on facial areas but not elsewhere, possibly soaks in too quickly. Wet conti-wraps on legs. Arms bare. Intracite conformable on blisters with mepilex transfer on top. He looks like a mummy.

May revert to 50-50 cream tomorrow.

July 8 2013. 6 weeks +4.

Weather 24 degrees.

Improved today. Blistering and peeling from yesterday cleared from very red to pink colour. No blistering, skin dried in problematic areas.

Face, head and back of neck clear. Hands and feet mostly clear. Alfie seems content having slept well. Eaten plenty (850ml).

Treatment: 50-50 all over. One dry layer of comfifast on legs. Arms bare. Intracite comformable on stomach area that blistered and peeled yesterday.

Will retain this treatment plan tomorrow. 

July 14 2013. 7 weeks +3.

Weather 29 degrees.

No diary for a few days following no bad spells. However bad tummy ache last night and Alfie didn't really sleep. He was agitated and was kicking a lot. This caused rubbing of skin leading to blisters on fingers, arm, back of thigh and for the first time low down below belly button. Skin creasing in nappy area appears to be white and damp, this is difficult to monitor. The remainder looks like it is healing, and drying.

Face, head and back of neck clear. Feet mostly clear and ankle cracking healing. 

Treatment: 50-50 all over. Mepilex on raw skin, intracite conformable on blisters near belly button.

July 15/ 2013. 7 weeks +4

Weather 27 degrees.

One of the best nights sleep since birth. 4 hour intervals. Very content and fast to settle.

Sores and blisters have begun to clear up. No blisters today.

Skin on arms dry so regular Epiderm cream.

Skin under belly button white appearance and damp- need to think of something to protect this and dry it out.

Treatment: 50-50 all over. One piece of Mepilex on arm and leg. Intracite conformable on broken skin near belly button.

July 20 2013. 8 weeks +2.

Weather 29 degrees.

Diagnosis confirmed today. Alfie has Bullous ichthyosis as suspected. His mutation is in keratin 10 gene. We will get tested to see if we are carriers or if it was a spontaneous mutation.

These become a little monotonous so I’ll stop there, but I hope that does give you an idea as to how variable this condition is. I purposely finished on his diagnosis. No more denial.

Stage 2: Ask the experts.

Although some politicians tell us not to believe the experts (controversial?!), we had to seek their advice here. Diagnosis was confirmed, this was a genetic disorder and wasn’t going away so I had to accept it for what it was (and no he won’t grow out of it!). As you’ve heard this was a very difficult time for us as a family but we had some fantastic support, in particular from the NHS. There are a handful of people there who helped us so much in those early days and continue to do so today.

Stage 3. Get educated.

There’s only so much the experts can help with when a condition like icthyosis requires all hands on deck all day. So, the next thing we did was to become engaged in the process and become the experts. I think that parents of children with icthyosis and those affected by ichthyosis truly are the experts here since they are forced to learn exactly what works and what doesn’t.

Stage 4. Advocacy.

This post is becoming lengthy so I’ll finish with this one because I guess that this is the whole point of the blog. People get frustrated, angry and resentful when they are struggling to cope with the shock of a child being born with something different. I felt all of these things back then, and still do today when Alfie is having a tough time. Whether you love or loath social media, it undoubtedly enables people to seek help and advice more easily from others in similar scenarios. On top of that, it helps promote awareness which is vitally important. We were put into contact with a charity known as the Ichthyosis Support Group which has created a network of parents and sufferers to provide information and support to families affected by Ichthyosis. We as a family are now able to share our experiences and provide that support to others. Reach out if you need help, things do get easier.

To finish on a positive note Alfie is an amazing little boy. I’m so proud of him and how he does not let this condition get in his way. He never complains, even when he is suffering (sometimes I wish he would complain more, so that we know he is suffering). He is always smiling, loves everybody and everything. He inspires me to do better. We could all learn a thing or two from my ‘champ’.