https://www.dailymail.co.uk/femail/article-8179547/Touching-photo-shows-toddler-condition-waving-working-Dad-window.htmlTouching photo shows toddler with a rare form of dwarfism who is separated from her working dad because she's vulnerable to infections waving to him through the window
Emmie Gizatullin was born with Kniest Dysplasia, a one in a million condition
She is self-isolating with her mother and brother while her father goes to work
Her mother Hannah shared this touching photo of Emmie's father waving through a window
By Bridie Pearson-jones For Mailonline
Published: 11:26, 2 April 2020 | Updated: 11:32, 2 April 2020
A mother has shared a powerful photograph of her toddler with a rare genetic disorder waving to her daddy from behind a window to help raise awareness of the importance of self-isolation. Emmie Gizatullin from Colchester, Essex, was born with a one in a million genetic condition called Kniest Dysplasia, which is the rarest form of dwarfism. The adorable two-year-old went into total isolation with her mum Hannah Gizatullin, 40, and her brother Adam, 11, earlier this week to keep safe amid the ongoing coronavirus pandemic. Emmie is very vulnerable to infections and illnesses, while she also struggles with breathing so any virus that affects the lungs could be fatal. She cannot be intubated and put onto a life-saving ventilator because her windpipe is too small. Her father Marat, 49, is a forklift driver and is still required to go to work so the family decided it would be safest to isolate from him at Hannah's mother's house until things are back to normal. But the loving dad still visits his family each morning by waving and blowing kisses through the window at a safe distance something which little Emmie looks forward to every day. The mum is now sharing this heart-warming photograph of a daddy and daughter having a special moment through a window in a bid to send a powerful message to the world about the importance of staying home and self-isolation. Stay-at-home-mum Hannah said: 'I knew Emmie's condition would make her very vulnerable at this time.
WHAT IS KNIEST DYSPLASIA?
Kniest dysplasia is a very rare disorder of bone growth causing short stature and skeletal abnormalities which can cause problems with vision and hearing. Babies born with Kniest dysplasia have a short trunk, shortened arms, and legs, usually, their adult height ranges from 42 inches to 58 inches. People have a round, flat face and bulging, wide-set eyes. Some affected infants are born with an opening in the roof of the mouth called a cleft palate. Infants may also have breathing problems due to the weakness of the windpipe. Severe nearsightedness (myopia) and other eye problems are common in Kniest dysplasia. Some eye problems, such as tearing of the back lining of the eye (retinal detachment), can lead to blindness. Hearing loss resulting from recurrent ear infections is also possible.
Source: US National Library of Medicine
'She has been admitted to hospital three times in four months with simple illnesses such as croup, chest infection and an ear infection, so the slightest illness can make her very poorly. She cannot be intubated as her windpipe is too small, so if she were to contract COVID-19 it could kill her because she could not be put onto a ventilator. I knew we had to do everything we could to keep her safe. We were self-isolating at home with Marat for one week but he was still going to work. It was making me very anxious. So Emmie, Adam and I moved in with my mum just over a week ago.'
Three months after being born, Emmie was diagnosed with Kniest Dysplasia - a genetic disorder that affects bone growth and causes dwarfism, skeletal abnormalities and creates problems with vision and hearing. The exact number of incidence are the disorder are unknown, but some predict there are less than 150 cases in the world. The tot has severe sight and hearing loss, while she also cannot stand and uses a wheelchair for mobility, as she has club feet and short, bowed legs. Due to a cleft palate that could not be repaired, Emmie cannot talk so communications through British sign language. And despite being nearly three, Emmie's condition means she can currently only fit into clothes designed for six-month-old babies. Hannah added: 'Marat is at our home and visits every morning by waving through the window at a distance. I captured this moment between them and thought it was very special. Despite terrible obstacles, there is still joy. Everyone has to do their bit to protect the vulnerable in our society. We are hating being apart and it hurts for Marat not to be with us, but we know we must do whatever it takes to protect Emmie. She doesn't understand what is going on but even with the brief visits, she is so happy and overjoyed to see her daddy. You have to take all the smallest glimpses of happiness you can to get through these difficult times.'
'Kniest Dysplasia can affect people in different ways. For Emmie, she has severe sight and hearing issues. She also needs a wheelchair to get around and uses sign language to communicate. The condition causes short limbs and short stature, so she is much smaller than other children her age.'
Hannah and Marat were over the moon upon discovering they were pregnant but their joy soon turned to worry after their first scan, when doctors told them something was wrong. The parents said initially they were warned that Emmie might have Down's Syndrome, and at each scan were given more bad news such as her having a small brain, heart defects, brittle bones, and dwarfism. Hannah claims doctors even pressured them into having a termination but the pair were adamant on keeping their baby, as they already 'loved and wanted her no matter what'. She said: 'We were over the moon when we found out I was pregnant and Adam was so excited to have a sibling. At the first scan, they told us there was something wrong. Initially, the doctors said it was Downs Syndrome. There was a lot of pressure to have a termination but we knew we loved her and wanted her no matter what.'
When the mum gave birth to Emmie, Hannah was told there would be palliative care in place as they did not think she would survive. But amazingly, Emmie grew stronger every day while in the NICU and went home after four weeks of intensive care. Now the 'happy and cheeky' toddler is loving life with her family and Hannah said she is always 'spreading joy' by waving and smiling at strangers on the street. She added: 'It was hard as I had no idea if she was even going to survive being born. Although doctors said she would look strange, Emmie was the most beautiful baby girl I had ever seen and had the biggest brown eyes. Despite all the challenges, she has she is such a happy and cheeky girl. She is very bright and uses sign language beautifully. She absolutely loves her collection of books and puzzles. When we go out she always makes new friends, as she gets so much attention because she is so cute and friendly. She waves at everyone she sees. We love her so much and will do everything we can to keep her safe during this time. Everyone needs to do their bit and look after each other by staying at home.'
