The mum of an Islington four-year-old with an extremely rare genetic disorder is telling their story as part of a national fundraising campaign.
When Sophia Hajnorouzi was just 11 months old she was diagnosed with alkaptonuria (AKU), or black bone disease, which causes brittle bones and cartilage, early onset osteoarthritis, and heart and renal issues.
The illness, for which there is currently no cure, will start to affect her health from age 18.
Jeans for Genes Day, an annual fundraising campaign encouraging people to wear jeans to school or work and donate money towards Genetic Disorders UK, has urged everyone to get involved and help people like Sophia.
Money raised this year will go towards a research study, Sofia-Paediatric (Subclinical Ochronosis Features in Alkaptonuria in paediatric age), conducted by The Alkaptonuria (AKU) Society.
It aims to identify when is the best time to administer medicines for AKU.
For Sophia, the first sign there was something amiss came in 2017 when mum Josie noticed her baby’s urine would change colour on clothing or a towel.
“It would stain the clothing dark brown or red,” Josie said. “I never noticed it in her nappies because those were changed frequently and wrapped up. It was when the urine was exposed to air.”
Two months later, the day before the family were setting off on a trip to see relatives in Australia, Sophia was first diagnosed with AKU.
It was confirmed three months later by Dr Stephanie Grunewald, consultant metabolic paediatrician at Great Ormond Street Hospital.
Sophia, who loves to draw, make crafts and climb, will have to attend follow-ups every five years.
“It was a nightmare, a massive shock,” Josie said. “I was in tears, beside myself, to think that her life might not be as easy as I thought it might be.
“There was a lot of worry, a lot of things to process and it took a few months to digest the news.”
AKU is a rare genetic condition which means homogentisic acid (HGA), which the body naturally produces during digestion, is not properly broken down.
The medicine nitisinone is used to reduce the level of the acid in the body.
One of the earliest signs is dark-stained nappies, as HGA causes urine to turn black when exposed to the air, as well as black ear cartilage and brown or grey spots in the whites of the eyes.
If signs are missed or overlooked, the disorder could go unnoticed until the 20s to early 30s when other symptoms start to emerge.
Both parents must be carriers to pass on the faulty HGD gene, and a child of two carrier parents only has a 25 per cent chance of inheriting AKU.
Sophia’s six-year-old brother is unaffected.
Josie said: “You realise there is nothing you can do. It feels like there is all this stuff going on in the background and you feel quite vulnerable.
“You can keep them as healthy as possible, with a good diet and exercise, but that is it.
“You know there might be a future where there is a problem. It can affect heart valves, blacken cartilage, bring on early onset osteoarthritis as all that time the acid remains in the body. You cope by focussing on the here and now.”
The Jeans for Genes Day campaign week, which is celebrating its 25th anniversary this year, is taking place between September 14 to 20.
In previous years, the campaign has been fronted by celebrities including Kate Moss, Robbie Williams, Harry Styles, Mel C, Kelly Osbourne and Jodie Kidd.
This year it has been supported by Warner Bros. UK and the animated icon Bugs Bunny, who is celebrating his own 80th birthday in 2020.
Josie added: “We know we have so many years to go and medical research can make a massive difference.
“I hope Sophia will get a place on a research group. I hope her life won’t be badly affected. I hope the research is what we have got to look forward to.
“The hardest part is going to come when she is 18. She will be an adult and we hope by then we have got to the point where she can make good decisions.”
Find out more about AKU with the AKU Society at https://akusociety.org and Jeans for Genes Day at www.jeansforgenesday.org/
Comments: Our rules
We want our comments to be a lively and valuable part of our community - a place where readers can debate and engage with the most important local issues. The ability to comment on our stories is a privilege, not a right, however, and that privilege may be withdrawn if it is abused or misused.
Please report any comments that break our rules.
Read the rules here