March 2010 April 2010 May 2010 June 2010 July 2010
August 2010
September 2010 October 2010
November 2010
December 2010
January 2011
February 2011 March 2011 April 2011 May 2011 June 2011 July 2011 August 2011 September 2011 October 2011 November 2011 December 2011 January 2012 February 2012 March 2012 April 2012 May 2012 June 2012 July 2012 August 2012 September 2012 October 2012 November 2012 December 2012 January 2013 February 2013 March 2013 April 2013 May 2013 June 2013 July 2013 August 2013 September 2013 October 2013 November 2013 December 2013 January 2014 February 2014 March 2014 April 2014 May 2014 June 2014 July 2014 August 2014 September 2014 October 2014 November 2014 December 2014 January 2015 February 2015 March 2015 April 2015 May 2015 June 2015 July 2015 August 2015 September 2015 October 2015 November 2015 December 2015 January 2016 February 2016 March 2016 April 2016 May 2016 June 2016 July 2016 August 2016 September 2016 October 2016 November 2016 December 2016 January 2017 February 2017 March 2017 April 2017 May 2017 June 2017 July 2017 August 2017 September 2017 October 2017 November 2017 December 2017 January 2018 February 2018 March 2018 April 2018 May 2018 June 2018 July 2018 August 2018 September 2018 October 2018 November 2018 December 2018 January 2019 February 2019 March 2019 April 2019 May 2019 June 2019 July 2019 August 2019 September 2019 October 2019 November 2019 December 2019 January 2020 February 2020 March 2020 April 2020 May 2020 June 2020 July 2020 August 2020 September 2020 October 2020 November 2020 December 2020 January 2021 February 2021 March 2021 April 2021 May 2021 June 2021 July 2021 August 2021 September 2021 October 2021 November 2021 December 2021 January 2022 February 2022 March 2022 April 2022 May 2022 June 2022 July 2022 August 2022 September 2022 October 2022 November 2022 December 2022 January 2023 February 2023 March 2023 April 2023 May 2023 June 2023 July 2023 August 2023 September 2023 October 2023 November 2023 December 2023 January 2024 February 2024 March 2024 April 2024
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21
22
23
24
25
26
27
28
29
30
News Every Day |

‘No one can give me answers,’ says mum of ‘one in eight billion’ little girl with ‘wee shaky legs’

MUM-of-two Rachael Duff calls her daughter Faith “one in a million” – but actually she’s closer to being one in several billion.

The little girl has a genetic condition so rare there are believed to be only four other known cases in the world – and her doctors use her as a case study, referring to her as “Child A”.

Rachael Duffy
Faith, five, has a genetic condition so rare there are believed to be only four other known cases in the world[/caption]
Rachael Duffy
Because so little is known about her condition, doctors have been unable to predict what will happen as she grows up[/caption]
Rachael Duffy
Faith was born prematurely in April 2018, at 30 weeks and six days[/caption]

Faith, five, from Ballyclare in Northern Ireland, uses a wheelchair, has Stage 3 Kidney Disease and a bladder that doesn’t empty properly.

Because so little is known about her condition, doctors have been unable to predict what will happen as she grows up.

When she was diagnosed with a pathogenic variant of her ELOVL1 gene in July 2022, her parents Rachael, 37, and Michael, 39, were left with “more questions than answers”.

Rachael explains: “I had three questions for the specialists. I asked them how Faith’s condition would progress, would it limit her life-span, and had myself or Michael given it to her?

“For each question, the answer was ‘we don’t know’.

“The specialist emailed me links to a medical journal. It was heavy going, I was Googling every other word. It said there had only been four recorded cases of Faith’s condition anywhere in the world… ever.”

Faith was born prematurely in April 2018, at 30 weeks and six days.

“I’ll never forget the Lion King moment,” laughs Rachael. “Faith was born by C-section and the doctors held up high, so I could see her.

“I saw straight away that she was a little girl with a mop of blonde hair. It was instant love.”

She was taken to the neonatal unit at Belfast’s Royal Victoria Hospital for assistance breathing. She had a hole in her heart and a small bleed on her brain, but she progressed well and was discharged home in May – a full month before her due date. 

By 18 months Faith was starting to miss her milestones. Her sitting was floppy and she wasn’t trying to walk.

At first doctors suspected cerebral palsy, but scans ruled that out. 

“It was like her top half wasn’t connected to her bottom half,” explains Rachael. “They did an MRI of her spine and saw that her kidneys were distended and her bladder was about to pop!

“When they drained it, fluid went everywhere, we all got soaked.”

The hardest thing is not having any answers

Rachael DuffFaith's mum

Another call from Faith’s medical team still haunts Rachael. She was in her kitchen, making dinner, when a doctor called and explained they’d found swollen lymph nodes in Faith’s abdomen that could be tumours.

“They asked me to bring her to the hospital that evening for bloods,” she explains. “I was in bits, I thought screw the dinner! Faith was at my mum’s and when I went to collect her I could hear her playing in the bath, splashing around.

“When mum asked what was happening I just broke down.”

Thankfully tests ruled out cancer, but doctors were unable to pinpoint the cause until genetic testing revealed what was going on.

She has a complex range of medical conditions, including lower limb dystonia, stage three kidney disease, skin problems and a neurogenic bladder. Because so little is known about the genetic variant behind them, each is treated individually by the appropriate teams. 

“There’s no information on Google, no parents’ forums or Facebook support groups,” explains Rachael. “The hardest thing is not having any answers. Everything is so unknown.

“I just tell myself each day that if Faith can do it, then I can do it. Her wee smile lights up every room, and as long as she’s smiling it gives us the strength to keep going.”

Faith attends a special school, where she is an academically bright and able pupil who is progressing with her reading and counting, “speaks non-stop” and “could sell snow to the Eskimos”.

She uses a wheelchair and recently underwent surgery to rotate one of her feet which had begun to turn in.

“Faith sometimes asks me when she will be able to walk, or when her wee shaky legs will get better,” Rachael says. “The other day she asked me if she would be able to walk when she was six. That was hard although she is set to begin physiotherapy soon and will hopefully start using a walking frame.”

The family recently got good news from her cardiologist. The hole in her heart is closing naturally and she won’t need surgery.

They have set up a fundraising page to cover Faith’s ongoing needs, including specialized physiotherapy and mobility aids as she grows.

For now, she’s a bright and happy child who loves messy play, Disney princesses, Playmobile toys and Chinese takeaways with her family.

“Faith is a happy, carefree little girl and we just want that to continue,” says Rachael. “For us, life can – and often does – change in an instant, so we take each day as it comes, but we’re also thinking of the future and what she might need when she gets older.”

To support the family: search ‘Fundraising for Faith’s Future’ on GoFundMe or Facebook

Rachael Duffy
Faith uses a wheelchair, has Stage 3 Kidney Disease and a bladder that doesn’t empty properly[/caption]
Rachael Duffy
Rachael says ‘hardest thing is not having any answers’[/caption]

What are the symptoms of kidney disease?

Kidney disease does not tend to cause symptoms when it's at an early stage.

This is because the body is usually able to cope with a significant reduction in kidney function.

Kidney disease is often only diagnosed at this stage if a routine test for another condition, such as a blood or urine test, detects a possible problem.

If it’s found at an early stage, medicine and regular tests to monitor it may help stop it becoming more advanced.

A number of symptoms can develop if kidney disease is not found early or it gets worse despite treatment.

Symptoms can include:

  • weight loss and poor appetite
  • swollen ankles, feet or hands – as a result of water retention (oedema)
  • shortness of breath
  • tiredness
  • blood in your pee (urine)
  • an increased need to pee – particularly at night
  • difficulty sleeping (insomnia)
  • itchy skin
  • muscle cramps
  • feeling sick
  • headaches
  • erectile dysfunction in men

This stage of CKD is known as kidney failure, end-stage renal disease or established renal failure. It may eventually require treatment with dialysis or a kidney transplant.

Source: The NHS

News Every Day

Life On The Green: Jack Nicklaus, golf legends impart wealth of wisdom in Ann Liguori’s new book

Cyprus Closed Chess Championship names winners

'Sticking his thumb in the judge's face': Michael Cohen says $1k gag order fines are joke

Trump trial: Jury selection to resume in New York City for 3rd day in former president's trial

Четвертый том в серии ко Дню космонавтики

Ria.city






Read also

Arsenal told what they must do to sign 25-year-old midfield target this summer

Giants vs. Diamondbacks Player Props Today: LaMonte Wade Jr - April 21

Olivia Dunne's LSU gymnastics team wins NCAA title: 'Best day ever'

News, articles, comments, with a minute-by-minute update, now on Today24.pro

News Every Day

Trump trial: Jury selection to resume in New York City for 3rd day in former president's trial

Today24.pro — latest news 24/7. You can add your news instantly now — here


News Every Day

Четвертый том в серии ко Дню космонавтики



Sports today


Новости тенниса
WTA

Пятая ракетка мира Пегула не выступит на турнире WTA 1000 в Мадриде



Спорт в России и мире
Москва

ЦСКА в меньшинстве уступил «Ахмату» в матче 25-го тура РПЛ



All sports news today





Sports in Russia today

Москва

ЦСКА потерпел сенсационное домашнее поражение в матче с «Ахматом»


Новости России

Game News

Draw It Story 1.3.0


Russian.city


Интернет

Вспышка обезьяньей оспы может стать пандемией: предупредил иммунолог


Губернаторы России
Александр Бастрыкин

Бастрыкин потребовал доклад по делу об убийстве нижегородки приемной дочерью


В России на треть вырос спрос на туристическое жилье в летний период

Опубликован план мира, способный улучшить отношения между Россией, Нато, Украиной

В Чеченской Республике сотрудники МЧС не дали заживо сгореть ягнятам и телятам

Боится ли заяц волка


Баста высказался о музыке Miyagi & Andy Panda

Песня под Ключ. Купить Песню под Ключ. Запись Песни под Ключ.

Леонардо Ди Каприо сыграет Фрэнка Синатру в новом байопике Мартина Скорсезе

«Джаз у Старой крепости»: кузбассовцы встретились с Игорем Бутманом и Даниилом Крамером


Кудерметова и Хао-Чин вышли в финал турнира WTA в Штутгарте в парном разряде

Лучшая теннисистка мира сделала заявление перед матчем с Еленой Рыбакиной

Соперница Арины Соболенко разрыдалась на плече белоруски

Что чаще всего едят на завтрак дети Елены и Новака Джокович?



Автор хита "Поезда" Женя Трофимов рассказал, почему Барнаул лучше Москвы

В Подмосковном центре охраны материнства и детства принимает новый врач

Kub Mash: в Москве водитель шесть раз протаранил машину семьи из Краснодара

Суд арестовал троих фигурантов по делу о поставке несвежих продуктов в ВС РФ


Тренер "Ахмата" Адиев: победа над ЦСКА поможет в плане психологии

«Все офигеют»: Крид решил купить Суbеrtruсk от компании Маска по «завышенному прайсу»

Концертный Директор в тарифе Full

Концерт в честь Дня труда прошел в Красногорске


"Память о счастье" в музее Тропинина в Москве.

Типография для столичных НКО выполнила более 1,5 тысячи заказов с начала года

В Архангельске стартовала лаборатория городской среды «Выход в город»

В Москве арестовали троих обвиняемых в поставке армии некачественных продуктов



Путин в России и мире






Персональные новости Russian.city
Григорий Лепс

Телефон раздора: что грозит Лепсу за удар по смартфону фанатки



News Every Day

Cyprus Closed Chess Championship names winners




Friends of Today24

Музыкальные новости

Персональные новости