In June of this year, a journal was published entailing the identification of a gene called CARD11. This gene, with its mundane name, is like a holy beacon of light coming towards me, while a choir of my favourite R&B singers sing the following lyrics off their hymn sheets…
“ I told you so “
This newly identified gene, found by scientists from the National Institute of Allergy and Infectious Diseases ( NIAID for short), shows it has direct, without a scientific doubt, correlation to the body having atopic dermatitis/ eczema. The findings were published in Nature Genetics.
How did this come about? The team, performed gene sequencing for 8 individuals from 4 families, and that although each family had a distinct mutation affecting a different region of the CARD11 protein, each mutation disrupted its normal function in T cells – an essential type of white blood cell.
In layman terms? When the gene was sequenced into each individual, each persons unique DNA dealt with it somewhat differently. Say for instance, my CARD11 gene has created atopic dermatitis that affects my face, while say, your CARD11 gene has created atopic dermatitis that solely affects your ankles… still with me? Basically think of it as a family tree, you all share the same name, but each of you have an individual first name, making you all that bit different, however you all share a common name. And that folks is my interpretation of the findings thus far. Now back to the gene sequencing…
The potential of this study was that glutamine, a protein , may correct the defective signally mechanism of the mutated CARD11. Glutamine is available as a supplement, and the researches intend to study the effects of glutamine consumption on individuals with CARD11 mutations/ severe eczema.
What is enlightening for me, since I first read about the glutamine supplement in June, and later renting the journal to read about the gene sequencing is that, for a long time I have spoken to other dermatitis sufferers online and I regularly mention that what I have is an autoimmune disorder. On occasion I have been told no you're wrong, you've TSW which is a whole different ball game, or others have questioned my thinking behind referring to dermatitis as an auto immune disorder.
Sometimes saying it aloud feels dirty, that I am not allowed to call my skin issues an immune disorder, not when they're are people other there with cystic fibrosis and lupus, real immune diseases. My family and I have essentially been dealing with my dermatitis since I was two weeks old. I was two weeks old when I had my first flare, and if that isn't an indication there is something wrong with the immune system I don't know what is.
The fact that this journal has found scientific proof that this CARD11 gene that is part of my DNA, is the issue is actually relieving. Especially when I have been saying it for the last year that all my skin stuff has boiled down to my immune system more than anything. Know, knowing this, I no longer cringe at the thought of openly calling my dermatitis an auto immune disorder, because that's what it is. Dermatology has always been seen as a ‘soft’ medical practise for some bizarre reason, I blame Greys Anatomy for that one episode where Grey and Yang visit dermatology, sit themselves on plush couches, are handed raspberry water and everyones scrubs are pale pink. Dermatology is not soft. My dermatitis is no less an issue than other immune disorders. This study will hopefully lead to more research into our bodies biggest organ, how it works, and why sometimes, it doesn’t. All I know is that right now, I’m no longer holding back when someone comes for me with a magical cream that fixes everything. I’m looking at you Rodan and Fields reps on Instagram, but in all seriousness this study is a huge deal, and I’m over the moon there is money being invested in such studies.
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