Girl is the & # 039; only person in the world & # 039; to suffer from a condition that prevents her from eating anymore
A toddler has a chromosome disorder that is so rare that she is the only patient in the world.
Nyara Bone & # 39; s mother Heather Smith, 30, claims she was told she was an & # 39; overreactive first parent & # 39; was when she brought her newborn to the doctor after she vomited.
After 16 months of doctor visits, Miss Smith and Nyara & # 39; s father Stefan Bone, also 30, were finally told that she has a set of DNA deletions and duplications on her thirteenth chromosome.
The nameless disorder has left the three-year-old with 24 health complications, including an inability to walk, talk or eat, as well as incontinence, behavioral problems, and various facial features.
Because the condition is so rare, doctors cannot predict what her future will look like.
For now the young person goes to a specialized nursery in Ayr, Scotland, and is a & # 39; contagious happy girl & # 39; despite the daily pain she suffers.
Nyara Bone has a chromosome disorder that is so rare that it is the only patient in the world. The three-year-old is pictured with her parents Heather Smith and Stefan Bone
Nyara has a series of DNA deletions and duplications on her thirteenth chromosome. This has brought her 24 health complications, including the inability to walk, talk or eat
Speaking of her daughter's condition, Miss Smith said: & # 39;I always remember going to the doctor and asking for help when Nyara was three months old.
& # 39; She clearly suffered some kind of pain and projectile broke far too often for a newborn.
& # 39; I was told that I & # 39; an overly reactive mother & # 39; was and & # 39; just put her on your shoulder and the wind came out of her & # 39;. & # 39;
WHAT IS A CHROMOSOME DISORDER
A chromosome disorder occurs when the number or structure of chromosomes changes.
In each cell, DNA is packaged in thread-like structures called chromosomes.
Humans have 46 chromosomes, with each cell normally containing 23 pairs.
The 23rd pair are the sex chromosomes, which differ between men and women.
Some chromosomal abnormalities are harmless, but others lead to disease.
Half of all miscarriages would be due to a chromosomal abnormality.
The most serious disorders are caused by the loss or gain of an entire chromosome.
These are usually fatal, affecting hundreds or even thousands of genes.
Down's syndrome is an example of a non-fatal condition that occurs when a person has an extra chromosome in his 21st pair.
If the affected chromosome is small or contains relatively few genes, the developed person may be left behind.
Structural abnormalities occur when large parts of DNA are missing or added to a chromosome.
Examples are the Prader-Willi syndrome, which arises when there is a deletion on chromosome 15.
This results in patients with an insatiable appetite.
Chromosomal abnormalities occur when there is an error in cell division.
This usually happens in the egg or sperm, but can happen during the development of the embryo or be inherited from a parent.
The risk increases as a mother ages.
Source: Your genome
When she was 16 months old, Nyara was finally diagnosed with chromosome abnormality.
& # 39; This diagnosis is so rare that it is the only person in the world with its specific deletions and duplications, & # 39; said Mrs. Smith.
Mr. Bone added: & # 39; Other children suffer from their 13q [chromosome], but she has five duplicates and one removal, so no one else is there.
& # 39; Each case is so individual that you are never really sure what they can go through at some point in their lives. & # 39;
It is said that Nyara was born without a corpus callosum, the bridge that connects the left and right sides of the brain.
Because of this she has a lack of coordination and can always be incontinent, the Daily record reported.
Nyara also has a low muscle tone. This led to her fracturing and dislocating her hip during birth, which became invisible until a scan two months ago.
The pup also died almost after doctors had administered 10 times more morphine than they should have.
This happened after she had undergone major surgery for a twisted bowel in December 2017.
She returned home, but was in so much pain that she was taken to the Crosshouse University Hospital two days later.
& # 39; Instead of 0.9 ml [from morphine], they gave her 9 ml, & # 39; said Mrs. Smith.
& # 39; This has been checked and signed by three nurses and one doctor.
# I can fully understand that mistakes happen, we are human and we make mistakes. But not to that extent and not for a small person that big.
& # 39; She sat by her bed for two hours and thought, "Is she going to come through?"
Nyara survived and & # 39; just continues & # 39; despite the daily pain she suffers.
The young person, who eats through a tube, even goes to the nursery, even though he is exhausted every day.
& # 39; She gets so much better with sensory and messy play, & # 39; said Miss Smith. & # 39; I can't believe how far she has come in such a short time.
& # 39; Before she would not put her hands on dirty hands or touch anything wet. & # 39;
Nyara also surprises her parents with her resilience every day.
& # 39; She is the most satisfied and happy thing, & # 39; said Miss Smith. & # 39; I honestly have never encountered such a determined person.
& # 39; She has proven that she is capable of anything and is determined to do things like everyone else. & # 39;
Nyara goes to a specialized nursery and is & # 39; contagiously happy & # 39; despite the daily pain she suffers
Parents speak out to encourage parents to trust their instincts when it comes to the health of their children.
& # 39; Most importantly, new mummies and dad's, please go with your belly, & # 39; said Mrs. Smith. & # 39; Nobody knows your baby like you; don't take a no as an answer. & # 39;
They also want to raise awareness of chromosome conditions. Miss Smith has a Facebook blog, Nyara & # 39; s story, where she talks about her daughter's disorder.
& # 39; We try to inform people more about her condition and not be afraid to ask questions, & # 39; said Mrs. Smith.
& # 39; It doesn't matter if you think it's a stupid question or if we can take offense, just ask. & # 39;
The family is supported by the rare charity of chromosomes and genes Unique.
& # 39; Without Unique we would know nothing, or be just as knowledgeable or comfortable in caring for our daughter Nyara, & # 39; said Mr. Bone. & # 39; As far as we know, we can still try to diagnose her condition.
& # 39; I praise Unique as one of the main reasons why she has become the contagiously happy girl she is today. & # 39;
The Carrick Bar and Grill in Maybole is organizing a fundraising day for Nyara on 14 September. The funds go to the medical expenses of the young person, a & # 39; special family treatment & # 39; or medical examination.
A spokesperson for NHS Ayrshire and Arran, who runs the University Hospital Crosshouse, said: & # 39; NHS Ayrshire & Arran cannot comment on individual cases due to patient confidentiality
& # 39; We do not underestimate the impact of this experience on the family and have fully apologized at the time.
& # 39; We have also explained which actions have been taken to prevent a recurrence. & # 39;
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