
My name is Amber, and I live in Queensland. I was born with Netherton Syndrome, which is a form of ichthyosis. Ichthyosis is an extremely rare and incurable condition affecting one in 250,000 people worldwide. This condition makes my skin very red, dry, sore and itchy, which causes irritability and makes me prone to infections. My skin grows at a faster rate than those who don’t have ichthyosis and this is what causes the immense pain as well as the other symptoms I experience.
While being on my rollercoaster ride with ichthyosis, I have experienced the highest of highs and the lowest of lows. I have undergone many surgeries, including surgery on my hips, which impacted my mobility when I was younger. I experienced dislocated hips and was unable to do tummy time like most babies. I only started walking when I was four years old. I have also had surgery to insert a Mic-Key button, which helps with feeding and gaining weight. I have been on many medications throughout my life.
One of the symptoms I experience is short stature so from the age of three to 14, I went on growth hormone therapy to help maximise my potential height. I have travelled from Queensland to Sydney several times to visit dermatologists who taught my family and I how to best care for my skin. I have also seen many other doctors who have prescribed various medications and creams to help me feel more comfortable.
Ichthyosis takes a toll on my daily life as I never know what to expect. One day my skin could be feeling pretty good, and I am able to go out and do things and the next day, I could be laying in my bed feeling really itchy, sick and in excruciating pain. I never know what the day may hold as my skin can change in a split second. That said, I have ticked off some of the biggest things on my bucket list. They may seem like small things to some, but they are huge things for me. From swimming in the ocean to working in the beauty industry, I feel like I can achieve things at my own pace, and this feels amazing.
Swimming in the ocean was only possible recently. Ichthyosis had stopped me from being able to fully experience the ocean due to the pain. While my condition is life-long, my skin over the years has gotten better compared to when I was younger. Trial and error over time has enabled me to figure out what works for me and what doesn’t. I have had to overcome the setbacks my condition has caused when trying to embark on my dream career as a hairdresser, but I can officially say that I am starting my Cert II in salon assisting this year and I feel one step closer to my goal.
No, I don’t look like the average person. Yes, I do get stared at and am forced to deal with frequent comments like, “Are you sunburnt?” These comments are hard to deal with, but I try to tackle them with education. I know ichthyosis is a very rare condition and not many people know about it, so if I feel up to it, I will educate people rather than getting upset.
If I could share one piece of advice to the wider community, it’s don’t look at people for their outer appearance but instead, look for what’s on the inside. Think twice before making comments on people’s appearance as you don’t know what your comments can do to people’s mental and even physical health. Questions are okay on occasion. I understand it’s common for people to be curious but ask questions in a way that is respectful to both yourself, and the person receiving the comment. Questions in general about my condition don’t really bother me, however, sometimes rather than being curious people are rude. It still amazes me that people don’t think before they speak.
I wouldn’t be where I am today without the support of my family, friends, coworkers and teachers who have helped me in more ways than they will ever know. My message to those living with a rare disease is that you are going to have both good and bad days but take each day as it comes. Use every experience as an opportunity to grow. Those of us with rare conditions have so much to offer and are a gift to the world. You are doing an amazing job wherever you are in life. To be honest, if we all looked the same, our world would be pretty boring. I want you to know there is always someone you can reach out to. You are not alone.