Ichthyosis Awareness Month: Lucia’s story ~ looking at the Wonders of Netherton’s Syndrome.

My friend Jeff told me about Lucia, a fellow Aussie, when she was a tiny girl. Her Mum, Francesca, and I have connected on Facebook recently. I love Francesca’s piece – she has certainly found the positives in Ichthyosis, and that’s very uplifting! I too see positives in my condition, and relate to all of the “wonders” Francesca has listed. Lucia has written some words too.

“Our 7yr old daughter has Netherton’s Syndrome or ichthyosis linearis circumflexa; when this condition is qualified, as it has to be on a daily basis because people are always curious, the habitual response we receive is: ‘ oh, really, I’ve never heard of it’. No surprises there, given the rarity of the occurrence.

I couldn’t even say ‘ichthyosis’ correctly for the first month, let alone comprehend how our alleged autosomal recessive genes had made our newborn so incredibly sick, red raw and battling for her life. And just for the record, no, my partner and I are not related. (Bit of a common question circa late 2005 in the PICU of a large Queensland hospital!)

Unless a particular condition affects you or someone close to you, the likelihood of you ever knowing any details about it are very slim. We entered a whole new world of unusual, complex and special terms; of statistics and genetic queries; of disability and special needs – oxygen, CPAP, blood transfusions, biopsies, feed machines, tubes, multi intravenous lines – and had to learn all about this remarkable, rare syndrome.

I see our daughter struggle through every day in certain areas, particularly the rigorous skin-care regimen. It sucks. She’s an absolute trooper though and despite protesting quite vocally everyday, especially on the scalp protocol, she has come to understand that it is necessary to make her as comfortable as possible. Sure she has no other experience, but she is very conscious that her skin is different and that her care is far more involved than her peers. And there are some days she wishes she were not so ‘special’. I have this feeling too when I see how others react to her. (Why do people always look so aggressive when they feel the need to stare?)

We have tried and tested many different methods to handle these days, some far more effective than others. But now when we have to qualify what NS is, I try and put our experience and research to good use and look at the ‘Wonders of Nethertons’, because quite frankly it is quite a remarkable condition.

So for our family these are the ‘Wonders of NS’:

1. Where does all this skin come from? The skin production is incredible, really, really impressive and like clockwork, every day, without fail. The reliability of its growth is relentless. Wow!

In the beginning I wanted to keep all the shed skin – I felt I ought to, as it seemed to be so much of my tiny, fragile child, her layers, and her very existence. The shedding of skin in those first months of life seemed prolific and I wanted to put it to good use. But it soon became clear that this extraordinary skin production was ongoing and I had to accept that keeping it all really wasn’t helping anyone. Maybe one day they’ll find a use…

2. Childhood obesity will never, ever be an issue for our little girl. Yay! After a particularly tough start on the oral eating front (tube-fed for several years) and battling the omnipresent ‘failure to thrive’ symptoms amongst others, she now loves real food. It is still an absolute treat to watch her eat and she has a certain fondness for the most expensive deli items that one can find! Bless her! She eats regularly, and lots of it. Her signature dish is homemade ravioli and it is not uncommon for 2 adult size pasta bowls to be devoured with gusto. Wow! Yet at 7 years and 6 months old she weighs 17 kg and hence is below the 5th percentile. But that’s ok, because she is such a busy little hub of skin creation and her metabolism is phenomenal. We once saw a dermatologist who continually expressed surprise at our daughter’s ‘alert’ state or lack of fatigue – when questioned why this concerned her, she compared our child’s metabolic rate to be the equivalent of me, walking up a steep hill, 24/7, with a 20kg pack on my back. Wow, I say, again.

3. Our daughter does most of this growing while she is asleep hence her slumber is deep, very deep. Really deep, but she still gets up if nature calls. Wow. And as she needs her shut-eye we get sleep-ins, yay! No unnecessary early morning rises for this family and she even sometimes volunteers for bed in the evening! It is as though she is fully aware of all the work ahead of her and makes the necessary preparations.

4. Her resilience to ignorance is sensational! While I tend to transform into Mumma Bear Extraordinaire – skills I have honed over the years dealing with comments such as: “you don’t deserve to be a mother”, “ever heard of sunblock duh?”, “you are obviously in denial about this eczema” and “OMG what happened to it” – our daughter rises well above this rudeness and ignorance. In my absence I know she finds her own way of dealing with these ‘OMG your face is so red!’ – the current retort is ‘yes, and you are so rude!’ Wow, if only I could be as succinct.

5. Networking – as a good and dear friend with ichthyosis highlighted for me early on, our daughter would have the most exceptional networking skills. And she does. Whether she knows it or not, no-one ever forgets her – whether we are at the local pool, butcher, public toilet, dog -park, post office, theatre, airport there will always be someone who greets her in a familiar way. Wow. However, it is potentially embarrassing for me, as I may need to check back to recent MBE (Mumma Bear Extraordinaire) behaviour and hope that aforementioned lovely, friendly person wasn’t on the receiving end.

 

I asked our daughter to also contribute to this post:

“There are a lot of other people around the world that don’t have skin like us. It is kind of painful, I like it but not when it hurts. And I do not like it when everybody stares at me but the people in the deli know me. I am unique to everyone at school.”

 

This post is part of the Ichthyosis Awareness Month project. For all posts in this project, click here.

For Ichthyosis and appearance diversity resources, click here.