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A Baby girl born 'covered in diamonds' due to rare and agonising skin condition

Jennie Riley had enjoyed a dream pregnancy and she and husband James couldn't wait to meet their baby girl.

But from the moment she was born the couple realised something was seriously wrong with their "beautiful angel".

Jennie describes the dreadful hush in the room when the midwives looked at Anna for the first time.

Anna, now 17 months old, was born covered in diamond-shaped white patches.

But as soon as James looked into his girl's eyes, which were were framed by eyelids, reddened and swollen from being stretched back by the tightening skin on her face, he saw her "most beautiful soul".

Anna, who weighed just 4lbs 11oz, with harlequin ichthyosis.

Just one in every 200,000 babies have the condition and causes the skin to regenerate 10 times faster than normal.

Jennie, of Highland, New York, USA,  said: "It was all very confusing as no one knew what it was for a while.

"And I couldn't understand how something had gone wrong, as throughout my pregnancy everything had gone so well and the ultrasound and stats - or oxygen saturation levels - were all perfect."

The condition is cause by an inherited faulty gene and Anna was diagnosed just hours after her birth.

Her skin had started to rapidly solidify, causing it to turn white and crack in deep red fissures.

She was rushed to intensive care at Vassar Brothers Medical Centre, in Poughkeepsie, New York, and her devastated parents were told she might not survive.

But she defied the odds and, at a month old went home, meeting her brothers, Andres, now nine, who is Jennie's son from a previous relationship, and James Jr., now four, properly for the first time.

Jennie, 34, said: "It was amazing being able to take her home at last, after all that waiting wondering whether or not she would live."

Now, despite having the condition for life and needing four hours’ of baths every day along with regular application of lotions so that her excess skin can be taken off, Anna is a happy and healthy toddler.

Her mum said: "In spite of everything she has been through, Anna is the happiest little baby and very rarely complains about the pain she must sometimes be in.

"It is a lot of work each day caring for her skin and there will be challenges ahead for us.

"But her joyful personality makes it all worth it."

All of Jennie's scans throughout her pregnancy were normal but the first warning signs that something was wrong came when her waters broke on September 16 2017, six weeks before her due date.

James drove her straight to hospital.

Given steroid shots to strengthen the baby's lungs, a common procedure for premature births, and waiting 24 hours for the drugs to take effect Jennie was wheeled down to surgery the following morning for a C-section as Anna was facing the wrong way in the womb.

Jennie, who gave up work to care for Anna full-time, said: "Everything was calm and I was feeling eager and excited.

"No one had any kind of premonition about how things were going to turn out."

But as baby Anna was lifted from her womb, Jennie knew from the hush that descended around her there was something very wrong.

She said: "I heard the nurse say, 'She's beautiful,' but then after that there was an uncomfortable silence and I suddenly became very worried."

Leaving the moist womb and hitting the air, Anna's skin, which due to the condition is unable to retain any liquid, instantly dried.

It formed hard, diamond-shaped white patches and caused her eyelids to flip inside out due to the tightening of her skin.

Told by nurses that Anna needed treatment, Jennie was so shocked by the news that she had to be given a sedative by the anaesthetist to calm her while her daughter was whisked away for special care.

Woken up later in the recovery room, Jennie saw her baby clearly for the first time.

She said: "I took her in my arms and she was wrapped up in plastic.

"Her whole body had cuts all over it, caused by the extra layers of skin cracking. The poor thing looked so unwell and her eyes were swollen shut.

"It was so confusing for me as everything had gone so well up until the very last moment and I had no idea what it was all going to mean for her and for us."

Still unsure of the diagnosis, having never seen anything quite like it before, the medical staff at the hospital sent baby Anna  to the specialist  Maria Fareri Children's Hospital, 50 miles south in Valhalla, New York.

She was diagnosed with harlequin ichthyosis and put on a strict treatment plan to give her the best chance of survival.

It involved being kept in a humidified box and rubbed with Vaseline every hour.

Jennie said: "After a couple of days, I was allowed to leave Vassar and go to her at the children's hospital.

"We weren't able to touch her, as the risk from infection is very high with harlequin ichthyosis sufferers in the first few days of life as bacteria can very easily get into the open cuts on the skin

"We were told just to take it day by day, as the chance of death was very high.

"I couldn't believe what was happening and was still in shock. But I just knew that we had to keep our little girl alive."

Luckily, Anna was incredibly resistant and, as the thick white pieces of skin began to come away, her flesh started to take on a more usual colour, although it remained tight and "leathery".

After three weeks in hospital she was allowed to go home, with Jennie taking on all her treatment needs.

The new mum said: "It was a big adjustment for all of us and there was a lot of trial and error.

"But we pretty quickly worked out how best to keep her healthy and it seemed that there was light at the end of the tunnel and that we would be able to get through it."

Now, taking two two-hour baths a day to help prevent her skin from drying out and shedding, Anna is growing up as any other normal girl.

Although she has some mobility problems due to the skin being taut and restricting movement and her skin has a particular pinkish hue.

"Jennie said: "There are of course difficulties and we are constantly having to think about how her skin might react in different weathers at different times of the year.

"And she can't just go outside to play in the park, as her skin will dry out very quickly and she isn't able to sweat or control her body temperature either so it can be tough.

"But she is learning to talk now and loves chatting, as well as playing with her older brothers, who are great with her.

"James, my younger son, was at first a little confused by her condition but is very loving and protective over her now, singing to her when she cries."

While it is uncertain how disabling ichthyosis will be for Anna in the future, Jennie's one hope is that her daughter will always retain her happy disposition.

She said: "There may be challenges ahead for her, but I just hope that she will be able to see past her condition.

"I want for her to always have a positive attitude, because it is what everyone loves about her."

https://www.mirror.co.uk/news/us-news/baby-girl-born-covered-diamonds-14096139

stella Posted on October 12, 2019 13:25

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