Writing by Amber Brine
Rare Disease Awareness month is celebrated throughout February with Rare Disease Day being celebrated on the 28th of February. As this is the time to celebrate and spread awareness of those living with some of the worlds most rare and unspoken about conditions, I thought I would share my story in the hopes that it will help at least one person feel less alone.
My name is Amber Brine and I live in Townsville, Queensland. I was born with Netherton Syndrome which is a form of Ichthyosis.
Ichthyosis is an extremely rare and incurable condition currently 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 itchy, red and dry skin that I experience.
Whilst being on my rollercoaster ride with Ichthyosis, I have experienced the highest of highs and the lowest of lows. Throughout my 16 years, I have undergone many surgeries including surgery on my hips which affected my mobility when I was younger. I experienced dislocated hips and I 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 mickey button which helps with feeding and gaining weight.
I have been on many medications throughout my life. One of the symptoms of my condition is short stature so from the age of three to fourteen, I went on growth hormone therapy to help maximize my potential height.
I have traveled from my hometown of Townsville to Sydney many times to visit dermatologists who taught me and my family how to best care for my skin and I have seen many other doctors who have prescribed varying medications and creams in the effort to help me feel most comfortable.
Ichthyosis takes a toll on my day to day 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 really know what the day may hold as my skin can change in a split second.
In my 16 years however, 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 am able to achieve things at my own pace and it feels amazing.
Swimming in the ocean was only able to happen this year. Ichthyosis had stopped me from being able to fully experience the ocean due to the pain it caused on previous attempts.
While my condition is lifelong, my skin over the years has gotten better than 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 in entering 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 have to deal with frequent comments like “Are you sun-burnt?”. 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 over 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, you don’t know what your comments can do to our mental and even physical health.
Questions are okay on occasion. I understand it’s common human curiosity, but do it 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, but sometimes rather than being curious people are rude. It still amazes me that people speak before they think.
I wouldn’t be where I am today without the support of my family, friends, coworkers and teachers who have all 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 good days and bad but take each day as it comes. Use it as growth. Those of us with rare conditions have so much to offer and are a gift to the world. You are doing an amazing job at where 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 if you. YOU ARE NOT ALONE.