'My whole world fell apart': mum opens up about baby girl born with rare skin disorder

Supplied / Jennie Riley
Supplied / Jennie Riley 

Two years ago was the worst time in my life. 

In what should have been the moment that completed my beautiful young family, my whole world fell apart. I was a broken shell and honestly didn't know how I would move forward.

My daughter, Anna, had just been born with a very rare genetic condition called harlequin ichthyosis. This terrible disease is often fatal and immediately after her birth, Anna was rushed away to hospital over an hour away. 

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

A post shared by Jennie (@harlequindiva) on

Anna's skin grows at a very fast rate. As soon as she was born, it began to dry and crack causing open wounds all over her tiny body. She hardly looked like a baby when they brought her in to me and I stared at her in shock. Her eyes were swollen shut and her tiny fingers and toes were rapidly losing circulation because of the tight skin.

As a mother, my mind was already shifting to the future - the what-ifs, the hows and the whys were coming at me left, right and centre - but none of my questions could be answered at that time.

The primary goal was to keep Anna alive, so off she went to hospital and there I was, alone and scared.

When baby Anna was born her skin began to dry and crack causing open wounds all over her tiny body.  Photo: Jennie Riley
The following months were filled with confusion and fear as I tried to find my way out of all the pain. I felt like I was drowning, but I had no idea which way was up, so I swam frantically in every direction.

I want to say that I had a single moment of clarity where it all made sense but the truth is, life isn't that perfect or simple. 

Advertisement

I experienced several moments of clarity, and also many moments of sadness, fear and anger. I believe that because I felt all this deep pain and anguish, I was also able to feel  joy and love on a much deeper level too. I also took things for granted a lot less than before.

One critical moment of clarity for me was hearing another woman's heartbreaking story. She told me about her two daughters that both lived until one-month-old and then passed away in the hospital. I remember feeling so much guilt. How could I be so sad, when I got to sit there there and hold my baby as she told me about both of hers that didn't make it? 

Baby girl born with rare skin condition - harlequin ichthyosis

From that moment on, I decided to try and focus on the things Anna could do, instead of what she couldn't. 

Anna's care routine is very long. Every day she take a bath for at least three hours as the water helps to expand the skin cells so the extra skin can come off. This is important because her body doesn't produce the outer layer of skin correctly so she can't retain moisture or control her body temperature.

We have to ensure we are down to the newest layer of skin or the rest will just become dry with lotion and make her very uncomfortable. We have to monitor Anna's temperature closely because she cannot sweat and therefore she can overheat in minutes. We also have to be careful of germs because she essentially has no outer layer of skin, so has no protection from bacteria.

Baby girl born with rare skin condition - harlequin ichthyosis

Perhaps the biggest obstacle of all, is that we have to teach Anna to love herself deeply. Living with such a marked visible difference is possibly one of the hardest things a person can go through. All those questions and racing thoughts I had immediately after Anna's birth were still top of my mind. 

As a mother, I would happily spend 100 years sitting in front of a bathtub to help my daughter, but I couldn't control what anyone else thought and whether society would 'accept' her. 

I began a facebook and Instagram page to help teach others about ichthyosis. Anna has the rarest of over 25 types and I want people to know about them all.

Baby girl born with rare skin condition - harlequin ichthyosis

 Photo: Supplied (Jennie Riley)

As I opened my life up to the world, people rose far beyond my expectations. I soon realised that with knowledge comes acceptance.

I share all of my daily struggles and happy moments too. I try to show people that, at the end of the day, I am just a mum and Anna is just another crazy two-year-old.

After a few posts, people stop seeing the skin and start seeing the child. It helps that Anna's personality is much bigger than most. She often says 'hi' really loudly to anyone that enters a room and they are immediately drawn to her warmth.

Recently I started a charity, Harlequin Diva Donations, that takes small monthly donations and buys special bathtubs for people with Ichthyosis. The website and charity is built around small monthly donations for more than one reason. Not only will we be able to buy a bathtub a month one day but with each new subscription I am showing the ichthyosis community that people care.

I want a world where acceptance is everywhere and each person gives a little to make another person's life a little easier.

People from all around the world have stepped up to donate and with enough money, the charity will start giving adoption grants so kids who are abandoned at birth because of their skin can be given a loving family without the huge expenses.

Two years ago I was lost and scared because I thought my life had ended. In fact, it had only just begun.

You can find out more about Jennie's amazing charity and follow her on Instagram or Facebook