Ichthyosis, cancer and Rare Disease Day

Today (28 February) is Rare Disease Day.

I have a type of Ichthyosis called Netherton’s Syndrome, which is a rare genetic skin condition. (For less confusion, I will refer to it as Ichthyosis.)

I was born with it. It means my skin is red, scaly, inflamed and prone to pain and infection. My body doesn’t regulate its temperature, my eyes don’t lubricate well, and my hair is brittle.

It’s medically challenging, but the social challenges are the hardest. I regularly experience stares, comments, questions, assumptions, taunts, fear, exclusion and discrimination.

I know many people with different types of ichthyosis, including Netherton’s Syndrome. Sometimes doctors connect me with families of newborns with ichthyosis and it’s a privilege and pleasure to provide them with guidance and friendship, and see the little ones grow and thrive. And of course I have lots of adult friends with ichthyosis.

An interesting fact about ichthyosis, especially Netherton’s and Harlequin, is that the genetic makeup means that people with the condition often look more like each other than they do their family members. So when I meet another person with ichthyosis, they look like family. And our shared experiences make them feel like family, too.

Going through ovarian and endometrial cancer diagnosis and treatment last year was hard, because of ichthyosis. I spent a lot of time educating gynaecologists, surgeons, nurses and oncologists about ichthyosis, because it’s not common. I looped my dermatologists into communication, especially when I got very sick from the chemo. I made my cancer experience public because there was no info about how ichthyosis interacts with cancer, cancer treatment and menopause at the time I was diagnosed, and I didn’t want the next person with ichthyosis who was diagnosed with cancer to feel as alone and uninformed as me. I know everyone’s experiences are different, but if one part of my story helps one person, then I’ve done my job.

Chemo was the hardest on my skin, and radiotherapy was surprisingly ok. Losing my hair was the easiest part, as I had a lifetime of looking different already to prepare me.

Happy Rare Disease Day. You’re not alone.

Image: Carly, a woman with red skin, wearing a floral shirt over a floral dress, and a pink hat, she’s standing in greenery, smiling. A rare disease day logo is in the top left.