ONE-IN-SEVEN BILLION
Brave little Nyara defies the odds – she is...
Meet the superhero toddler who is so unique that she’s the only person on the planet with her chromosome disorder. Little Nyara Bone defied the odds when she was given a severe morphine overdose ten times the dosage she should have.
Nyara was diagnosed with chromosome 13q deletions and duplications when she was just 16 months old. It only came after months of her anxious parents Heather Smith and Stefan Bone were battling for answers. The three- year- old from Ayr may have 24 health conditions, including being immobile and not being able to talk, but that certainly doesn’t stop her smiling, laughing and living life to her fullest. Mum Heather said: “I have honestly never came across such a determined little person.”
Meet the superhero toddler who is so unique that she’s the only person on the planet with her chromosome disorder.
Little Nyara Bone was diagnosed with chromosome 13q deletions and duplications when she was just 16 months old after months of parents Heather Smith and Stefan Bone battling for answers. The three- year- old from Ayr may have 24 health conditions, including being immobile and not being able to talk, but that certainly doesn’t stop her smiling, laughing and living life to her fullest. The tot also has a horse shoe kidney, low muscle tone, global developmental delay, a dislocated and broken hip and feeds through a tube.
Heather, 30, said: “After 16 months worth of visits to our doctor she was diagnosed with a chromosome disorder.
“This diagnosis is so rare that she is the only person in the world with her specific deletions and duplications.”
Dad Stefan, 30, said: “Other kids will have their 13q affected but she’s got five duplications and one deletion, so there’s nobody else with that.
“With chromosome disorders, you just try and meet it as it comes.
“Every case is so individual that you’re never really sure what they might go through at any point in their life.” Heather set up a personal blog to detail Nyara’s tales, which has proved popular online, with over 1800 folks following her journey. She said: “We’re trying to get people more educated on her condition and not be scared to ask questions.
“It doesn’t matter if you think it’s a silly question or we might take offence to it– just ask. “Because I’d rather people were more comfortable around her.” Nyara’s journey hasn’t always been a smooth one as the tot was almost killed due to a severe morphine overdose where she was given ten times the dosage she should have.
Nyara underwent major life saving surgery for her bowels back in December 2017 where she was cut from side to side. But the toddler became unwell post operation and was taken to Crosshouse. Heather said: “Instead of 0.9mls they gave her 9mls - this was checked a n d signed for by three nurses and one doctor.
“I can totally understand that errors happenw e ’ r e human, and we make errors. But not to that extent and not for a wee person that size.
“It was two hours sitting by her bedside thinking ‘ is she going to pull through?’”
But despite being in pain, the morphine mishap and living with many conditions, Nyara “just gets on with it”.
Part of Heather’s blog, Nyara’s Story, isn’t just to educate others on her daughter’s health conditions but also to tell other parents to stand firm in seeking medical help and advice for their child.
She said: “I can always remember going to the doctor and asking for help when Nyara was three months old. She was very clearly suffering in some sort of pain and projectile vomiting far too often for a newborn. I was told that I was being ‘ an over reactive first- time mother’ and ‘ just put her up on your shoulder and hit the wind out of her’. The main thing is, new mummies and daddies, please go with your gut.
“No one knows your baby like you do and don’t take no for an answer.”
Nyara attends nursery at Southcraig School in Ayr, which helps children with additional support needs.
Heather said the tot was exhausted after her first day back but in true Nyara fashion was raring to go again.
Heather said: “She is getting so much better with sensory and messy play; I can’t believe how far she has come in such a short time. Before she wouldn’t put her hands on anything dirty or touch anything wet. She’s starting to get better and it’s all down to her nursery. Southcraig are amazing– she loves going to school.”
The family have also been supported by rare chromosome and gene disorder charity Unique.
Unique is a non- profit, voluntary organisation dedicated to promoting awareness of rare chromosomal abnormalities.
The charity acts as an international support group; produces a newsletter for registered members; and promotes awareness of rare chromosomal abnormalities, both among the public and relevant professionals.
Stefan asked for donations for his 30th birthday to give back to the charity who he says has helped his daughter become an ‘ infectiously happy girl’.
He said: “Without Unique we wouldn’t know anything or be as knowledgeable or comfortable in the care of our daughter Nyara. And for all we know we could still be trying to diagnose her condition.
“I praise Unique as one the main reasons she was able to become the infectiously happy girl she is today.”
Heather added: “She’s the most content and happy wee thing. I have honestly never came across such a determined little person. She has proven that she is capable of anything, and is adamant to do things like anyone else.”
A NHS Ayrshire and Arran spokesman said they were unable to provide comment on individual cases due to patient confidentiality and added: “We do not underestimate the impact this experience had on the family and gave a full apology at the time. We also explained what actions have been taken to prevent a recurrence.”
Follow Nyara’s Story at : https:// w w w . f a c e b o o k . c o m / N y a r a s - Story- 105264710826163/
For information, rare chromosome and gene disorder advice or to donate to Unique visit: rarechromo. org
• The Carrick Bar and Grill, Maybole will be holding a fundraising day for Nyara on Saturday, September 14. Funds will go to Heather and Stefan for either medical costs, a special family treat or medical research.