Parents of 2ft 5in tall girl born with rare form of dwarfism share their hopes

A little girl who with an extremely rare form of dwarfism is only 2ft 5in tall - but her parents said her smile helps them through their hardest days.

Meet the little girl who will never grow up due to an extremely rare form of dwarfism which means she currently cannot talk, walk, or eat independently - but whose parents say she 'loves life' and 'lives every moment to the fullest'.

At just 2ft 5ins, Emma Gore, four, was born with Meier-Gorlin Syndrome - a rare type of primordial dwarfism that affects only 67 people in the world - a condition which is characterised by absent or small kneecaps and short stature.

Emma was also born with tracheobronchomalacia, or ‘floppy airways’, which means her windpipe is soft and frequently collapses, and Congenital Genu Recurvatum which involves ‘backward-bending knees'.

But despite her conditions, Emma refuses to be held back and embraces life, and her parents Rachel, 34, and Michael, 33, a creative director, say she is a ‘bubbly’ and ‘happy little girl’ who ‘just loves life'.

Emma is fed through a gastrostomy tube in which food is directed straight to her stomach each day and her breathing is supported by a ventilator and oxygen tanks.

But that doesn’t stop Rachel from ensuring that her daughter experiences as much as other children her age - as Emma is taken to the zoo, to the beach, and on holiday as much as possible.

Stay-at-home and mum-of-one Rachel, from Bradenton, Florida, U, said: “Emma is an amazing little girl and she doesn't let her dwarfism hold her back.

"She might be small but what she lacks in size she more than makes up for in personality.

“She’s very silly and is always finding something to do that keeps her entertained and makes us laugh.

"We try to be as normal as any other family.

“I really like taking Emma out to places because I want her to have those experiences whether it’s the zoo or the beach.

“We get out and go for walks, that’s something we love doing.

“We put Emma in the stroller, and she loves the fresh air.

“It’s really cute, even when we’re outside and the wind is blowing, she’ll put her hands up and feel the wind.

"She loves life and makes the most of every day."

Rachel says she feels inspired by her daughter’s attitude to life because even the ‘small stuff’ makes her happy.

She said: “It’s so easy to complain about things but then you look at her and she’s just so happy and I’m amazed.

“She’s gone through so much but she’s always laughing and making us laugh.”

Emma’s dad, Michael, added: “Emma’s very bubbly and she’s a very happy girl.

“Very rarely do I see her unhappy and she’s always very upbeat and energetic. She just loves life.”

Rachel was delighted to discover she was pregnant in October 2016, having miscarried only six months before.

But at the end of her second trimester, doctors soon discovered there was a problem with Rachel’s pregnancy.

In May 2017, Rachel went for her 31-week scan, but it showed her baby to be measuring five inches smaller than what is deemed normal.

She spent six days in hospital undergoing intense ultrasounds and tests.

Rachel said: “I was crying constantly and just worried she was going to die.

“No-one was thinking about dwarfism because none of our parents have it.”

On May 18th 2017, Rachel and Michael were told by doctors that Emma would likely be stillborn.

“They just kept saying she would not be compatible with life”, Rachel recalled.

“I just remember them repeating that.”

But on 12th June, the day after Rachel's 30th birthday, Emma was born via c-section weighing a tiny 3lbs 3ozs, and after some genetic tests, she was diagnosed as having primordial dwarfism.

She was immediately taken to the hospital’s NICU where she spent six months before flying to Michigan Children’s Hospital to undergo life-saving surgery to treat her tracheobronchomalacia which caused her airways to collapse.

Rachel said: “Before the surgery, anytime she would cry, she would try to take too many breaths and pass out.

“She couldn’t get any air.”

Emma underwent trial respiratory therapies in which 3D-printed splints were inserted into her chest to hold open her airways, before dissolving into her body.

Rachel said: “We had Emma’s first Christmas in the hospital.

“It was really successful, and the surgery saved her life.

“We honestly believe she would not have survived had it not been for her doctor, Dr Glen Green.”

On April 30th 2018, after 323 days in hospital, Emma returned to Orlando, Florida, U, and settled into life at home.

But now aged four, the tot can still only breathe through a tube and has a trake down her throat at all times and has to feed through a tube in her stomach.

But despite the restrictions, parents Rachel and Michael admire Emma’s enthusiasm for life and enjoy watching her being entertained by her toys and anything she can get her hands on.

Michael said: “Throughout the years there are things that I see her do on a daily basis now that make me smile and laugh because she’s reaching those little milestones and she’s interacting more with you and playing, learning and counting.

“She may be a little behind learning-wise, but she’s definitely come a long way and she’s continuing to impress us and that’s so fun to watch.”

Emma is unlikely to attend school in the near future but will benefit from Florida’s ‘Hospital Homebound’ scheme in which children with medical needs are enrolled in school and have a teacher come to their house.

In October 2021, Emma underwent corrective leg surgery performed by Dr William Mackenzie at Nemours Children’s Hospital, Delaware, U, to repair her backward bending knees.

The surgery was a success and is hoped to be the first of many as the family await the development of new leg splits which would enable Emma to properly walk.

Michael and Rachel also long to hear their daughter speak.

Michael said: “I would love to hear Emma say 'I love you Mummy, I love you Daddy’ and things like ‘let’s go and play’.

“These are things that a lot of families take for granted but it would be really special for us to hear those words someday.”