Girl, four, with a deadly heart condition has ‘never eaten solid food in her life’ because of another rare genetic illness which makes her unable to swallow
- Rosie Kirkman is fed a high calorie milkshake through a tube for 18 hours a day
- She suffers with KBG syndrome, causing abnormalities in development
- KBG syndrome affects an estimated 150-200 people worldwide
- Rosie also needs surgery for a heart condition she was born with in the new year
- She has compiled a wish list ahead of Christmas and is fundraising
A four-year-old girl has never eaten solid food in her life due to an extremely rare genetic condition.
Rosie Kirkman, from Laindon, Essex, lives off a high-calorie milkshake which she’s fed through a tube for 18 hours a day because she suffers from KBG syndrome.
The genetic mutation, which is only known to affect 200 people globally, causes stunted growth due to bone abnormalities and swallowing difficulties.
Rosie struggles to put on weight and therefore only weighs 24lbs (10kg), the same weight as an average 18-month-old toddler.
Her family, including parents Pamela and John Kirkman, will spend another Christmas conscious they are eating foods Rosie can’t in front of her.
And Rosie has complicated surgery planned for the new year because she was also born with a potentially fatal heart condition that has worsened in the past six months.
To keep her spirits up, Rosie has compiled a ‘Christmas wish list’ of things she wants to do and is fundraising to try and achieve them.
Rosie Kirkman, from Laindon, Essex, has ‘never eaten solid food in her life’ because of a rare genetic illness which makes her unable to swallow. She also has a heart condition which she needs surgery for in the new year. She is fundraising to achieve a wish list
Rosie, pictured left with her sisters Emma, nine, and Ruby, one, is fed a high calorie milkshake through a tube for 18 hours a day (pictured) because has never eaten solid food in her life
Mrs Kirkman, 45, who is also mother to Charlotte, 25, Emma, nine, and Ruby, one, said: ‘Rosie has never eaten food or drank anything in her life. It is really hard at times such as Christmas and birthdays.
‘I’m sure she would like to eat all the nice things other kids can eat, but she just knows she can’t.
‘She was at a birthday party not long ago, and someone offered her a chip and she just looked at me and said ‘I can’t eat that’.
‘My husband and I don’t eat in front of her, we’ll wait until she goes to bed.
‘She is fed through a tube 18 hours a day. We can’t go any less than that because she constantly loses weight.’
Rosie has been in and out of hospital her whole life due to her myriad of health conditions.
She was quickly diagnosed with aortic stenosis as a baby, which is when the aortic valve in the heart narrows, restricting blood flow.
She had a major open-heart surgery that lasted a gruelling nine hours when she was only five days old.
At the age of 20 months, she was diagnosed with KBG syndrome. Only 150 cases have been recorded in literature, according to The National Organization for Rare Disorders, but other estimates sit around the 200 mark.
Rosie’s mother, Pamela Kirkman (pictured), said feeding issues are a problem with children with KBG syndrome, but there is little research into the rare condition
Rosie was born with aortic stenosis as a baby, which is when the aortic valve in the heart narrows, restricting blood flow. She is pictured in hospital as a baby
WHAT IS KBG SYNDROME?
KBG syndrome is a rare disorder that affects a number of body systems.
Common signs and symptoms in individuals with this condition include unusual dental features, skeletal abnormalities especially in the spine, bone development delay and intellectual disability.
A characteristic feature of KBG syndrome is unusually large upper front teeth, a wide, short skull, a triangular face shape, widely spaced eyes, wide and bushy eyebrows and a thin upper lip.
Some children experience poor concentration, ADHD, anxiety, aggressive behaviour and epilepsy.
Less commonly, some children have congenital heart problems, defects affecting the roof of the mouth and acid reflux.
KBG syndrome affects an estimated 150-200 people worldwide, according to The National Organization for Rare Disorders.
KBG syndrome is caused by mutations in the ANKRD11 gene.
Mrs Kirkman, who is Rosie’s full time carer, said: ‘Rosie’s condition is very rare, she is only one of around 200 people in the world who have it.
‘She is tiny for her age. She is nearly the same size as her younger sister who is just one.
‘She has scoliosis in her spine, she can’t walk too far down the road without wanting to be carried. She also has some developmental issues due to her condition.’
KBG syndrome is characterised by abnormalities of the teeth, spine, development of limbs and growth.
Children have a unique appearance because KBG can cause the eyes to be spaced further apart, bushy eyebrows and thin lips.
Most individuals have some degree of developmental delay or intellectual disability, but this is mild.
Mrs Kirkman said there is little research into the rare condition, but they soon discovered feeding issues are a problem with children with KBG syndrome.
The cause of this is unknown, however some children have defects in the roof of the mouth, called the hard palate, or gastroesophageal reflux disease, which causes difficulty swallowing, vomiting and a sensation of heartburn after eating food.
Rosie’s health has worsened over recent months, and a scan showed that her heart condition has deteriorated.
Aortic stenosis is a progressive disease as the heart has to work harder to pump blood through the narrow valve.
The walls of the heart thicken in response, restricting room for an adequate amount of blood to be supplied to the body. This in turn could cause a stroke or heart failure.
Rosie has been in and out of hospital her whole life due to her myriad of health conditions
Parents Pamela and John Kirkman (pictured at home) will spend another Christmas conscious they are eating foods Rosie can’t in front of her
Rosie’s family is raising money to help make all of their little girl’s wishes come true. She is pictured with her older sister, Emma, nine, and her wish list
Mrs Kirkman said: ‘Six weeks ago, she had a yearly check and her doctor said her heart will need operating on again in the new year. We are trying to stay on the positive side of things.
‘Doctors hope she will pull through, as she can’t cope without having the heart surgery done. But there is always the chance that something could go wrong.
‘We’re hoping for the best with surgery but sometimes you just never know what could happen.’
WHAT’S ON ROSIE’S CHRISTMAS WISH LIST?
Rosie’s wish list:
- To visit Euro Disneyland
- To visit Peppa Pig World
- To visit CBeebies Land
- To visit Thomas Land
- Toy shop trolley dash at a store
- Buy equipment for Basildon Hospital
Rosie has compiled a list of all the things she hopes to be able to do after having surgery – and because each day is precious, Mrs Kikman said it was important for their family to make as many memories with Rosie as they can.
Rosie’s family is raising money to help make all of their little girl’s wishes come true.
Mrs Kirkman said: ‘We are making this Christmas time the best one ever before her surgery.
‘We want to make as many memories with Rosie as we can, so that’s why we’re fundraising to help do all the things from her wish list.
‘We are all feeling positive and I really hope we can do all these beautiful things for Rosie, as she has been through so much in her short life.
‘She’s smiling and living every day happy, so that’s what we need to do too ‘She likes to have fun and enjoy every moment. She is a real fighter and she is always smiling.
‘It would mean a lot to her and her sisters to have those memories together and just enjoy being kids.
‘Rosie makes us proud every day. She is such a sweet little girl and we love her so much.’
To donate, visit here.
Source: Read Full Article