The beautiful little girl in the picture above is Anna. She just turned four. She loves dress-ups and dolls, painting and playdough. She also has harlequin ichthyosis.
This incredibly rare skin disease is something most people have never heard of.
Anna’s mum, Jennie certainly had not.
People with harlequin ichthyosis are born with plates of thick skin that crack and split apart. The tightness of the skin pulls around the eyes and the mouth, forcing the eyelids and lips to turn inside out, revealing the red inner linings.
See the image below? That’s also Anna, born at 34 weeks. The whiteness of her skin and the redness in her eyes – that’s harlequin ichthyosis in pure, raw form.
This is Anna’s amazing journey so far.
Anna’s skin began to harden within seconds
At 34 weeks pregnant, New Yorker Jennie wasn’t expecting to go into labour just yet. However, her waters unexpectedly broke and she had a C-section. Everything seemed to be fine.
Until it wasn’t.
When they took her out, I heard her cry, and they said, ‘She is beautiful.’ Those are the words every mother wants to hear, so I smiled and relaxed.
Behind that curtain though, things were becoming very terrifying.”
Anna’s skin began to harden within seconds. After hardening, it began to split, causing open wounds all over her body.
While Jennie recovered, her husband was told their daughter had a condition. Doctors weren’t sure what it was at that point.
He was handed our Anna and was able to look deep into her eyes just moments before they swelled, and she could not open them again for many days.”
‘I wasn’t ready’
When Jennie woke up after her C-section, she immediately asked about her baby. Was she okay?
‘We will talk about that in the room,’ is what doctors said.
I did not ask more; I did not want to know more. I felt as if somehow by wanting a girl so badly I had jinxed myself, and I wasn’t ready to hear bad news. I wasn’t ready for my life to be different.
I just wasn’t ready.”
At first, Jennie was told it was a birth defect. She thought, “It’s ok I can fix it. They make prosthetics, they can do surgery for sure. They can fix it.”
But it wasn’t quite that simple. You see, harlequin ichthyosis isn’t something that can be fixed.
Visions of my daughter, the little girl I had thought about, prayed about, and planned for years for was here, finally. Everything was fine, everything was perfect. And then it wasn’t. Just like that.
For months her skin had been growing at an accelerated rate and all at once, upon hitting the outside air, it began to dry. Her fingers were being squeezed and turning blue and her toes were on the bottom of her feet from the skin being so tight. Everyone was frantically trying to diagnose her, but they had never seen anything like this.”
Anna required constant care and monitoring in the NICU. During that time, Jennie tried to come to terms with what all of this meant for Anna.
She met with others who told her stories of people they knew with harlequin ichthyosis and how great they were doing. But she couldn’t bring herself to look up the condition.
It seemed everyone had looked it up but me because I still wasn’t ready.
While those with harlequin ichthyosis can go on to live for several years, doctors didn’t have much hope for little Anna. Doctors predicted she wouldn’t live for more than a few days.
My heart stopped, and I became immediately sick. I had never been more affected by any words I had ever heard in my life.
I decided at that moment that my Anna couldn’t and wouldn’t die because, to put it simply, I would never be ready for that.”
Anna’s brave battle
Anna proved she was a fighter during her time in the NICU and every day since. As she grew, the thick, plate-like skin gradually split and peeled off. She was able to open her eyes and see her mum for the first time.
I remember being completely captivated with her and how I never saw what other people saw. She was beauty in the purest form.”
‘I thought she would have to be in plastic forever’
On the day Anna was meant to go home, she only made it five minutes out of her humidity-controlled box before her skin started to dry up. It became like thick leather and she cried in pain.
They tried again the next day but covered her in vaseline. Then they wrapped her in a plastic bag lined with a sanitary cloth. She was able to remain out of her humidity-controlled box for a little longer this time but she still wasn’t ready to go home.
The nurse tried to be positive, but that day, despair consumed me. I gave her back and hurried into the hall where I lost it. I thought she would have to be in plastic forever, and I didn’t understand how she would live.”
When Anna was able to go home at one-month-old, she required constant care. Anna, her husband, her mother, her sister and her friends all helped out. Anna could only wear fleece pajamas and required vaseline and baths several hours of the day.
Jennie admits it was the worst two months of her life. Jennie was already a mum to two boys and knew what life with a newborn is typically lke. This wasn’t it.
As my husband worried more about me, he talked to a friend who had lost two babies, both at a month old. His friend said his wife would talk to me.
The day that woman walked into my house was the day that perspective became everything.
She told me her story of two separate pregnancies and how both of her beautiful babies never made it home. I thought of the feeling I had when I heard Anna would not live and how this woman must feel that way always, deep inside.
I decided to focus on what I could have and not what I couldn’t. I decided that if Anna could wear only fleece, then I would pick the cutest fleece pajamas I could find, and I would match her hat every day.”
As time went on, Anna’s skin shed the extra layers, and Jennie became more confident in caring for her.
When you have a child with any type of disability, you find yourself rejoicing in even the smallest moments.
I started to realize that if I put restrictions on what she was capable of, then that would become what she would accomplish, so I decided to set the bar high.
I decided she was capable of anything, and so was I. I remember the first day she wore jeans – how excited I was to put different fabrics on her skin, how hats turned into headbands, as I was able to get her hair to grow again.
Small steps felt like giant leaps, and I made a decision to share Anna with the world.”
A beautiful gift
Anyone who meets Anna sees that she is the purest form of perfection and Jennie has grown confident in caring for her little girl and the obstacles that come along the way.
Anna requires daily care for her skin, which continues to shed at an accelerated rate. Some days are worse than others.
Anna has been hospitalised due to sicknesses and also has reactive arthritis which causes her intense pain and an inability to walk.
However, Anna never stops fighting, and neither will Jennie. Anna attends preschool and is preparing for her first year of school next year.
Doing the work every day is simple when I’m doing it for her. Anna teaches me every day to focus on all of the positives, and the rest just falls into place.
I once blamed myself for Anna’s condition. I thought it was the consequence of my greed because I wanted her so badly, even though my world was already perfect.
I now understand that I was given her because of the love I already carried in my heart for my daughter. Anna was meant for me, and I for her, and together we will show the world what true beauty is.”
- Royal Children’s Hospital
- Ichthyosis Support Group (UK)
- Foundation for Ichthyosis & Related Skin Types (US)