Worried mum tells of cruel fate awaiting daughter diagnosed with rare 'black bones' disease

Little Sophia Hajnorouzi was diagnosed with a genetic condition called alkaptonuria after her mum Josie noticed the dark colour of her urine.

A worried mum has spoken out on the cruel fate which awaits her daughter who was diagnosed with a rare condition as a baby due to her dark urine.

Little Sophia Hajnorouzi suffers from a genetic condition called alkaptonuria, or black bones disease, which will see her health seriously impacted around the age of 18.

Although she appears perfectly healthy from the outside, the four-year-old faces a bleak future of black and brittle bones due to a build up of a digestive chemical in the body.

It can also lead to serious health complications, such as heart and renal issues.

Her mum Josie first realised something was amiss when Sophia was about eight-months-old when her pee would change colour if it got on her clothing, according to The Mirror.

Josie, 42, a freelance psychotherapist trainer from north London, explained: "It would stain the clothing dark brown or red.

"I never really noticed it in her nappies because those were changed frequently and I just wrapped them up.

"But it was more obvious when the urine was exposed to air. I Googled it and “black urine disease” came up. I took pictures and showed my GP."

The GP prescribed antibiotics for a suspected urine infection, but when Sophia developed a rash afterwards, Josie knew it wasn’t right just to pump her young daughter with drugs, and instead rang an out-of-hours doctor, who was the first medic to mention a condition called alkaptonuria.

Josie said: "I had never heard of it before.

"I felt more disbelief than fear at the time because Sophia seemed so well and hit every milestone early, she was a real chatterbox and walking before she was even a year old.

"So it seemed impossible to comprehend her having a very serious underlying health problem."

It took a few more months of waiting until a specific urine test identified that Sophia had indeed got the rare genetic disorder, and the family had their first appointment at Great Ormond Street Hospital in June 2017.

Josie added: "As we sat listening to the consultant metabolic paediatrician carefully explain the information, and the possible outcomes, I felt like I was trapped inside a surreal nightmare.

"It was a massive shock. I was in tears, beside myself, to think that her life might not be as easy as I’d just assumed it would be."

Gently, the medics talked Josie through alkaptonuria (AKU), which stops patients’ bodies from breaking down homogentisic acid (HGA), the chemical which humans naturally produce during the digestion of food.

Because of this, HGA builds up in the body and, over time, can lead to black and brittle bones and cartilage, and early onset osteoarthritis.

This build-up of HGA can also lead to other, more serious health complications, such as heart and renal issues.

One of the earliest signs of the condition is dark-stained wee, as Josie witnessed, because HGA causes urine to turn black when exposed to air for a few hours.

But if this sign is missed or overlooked, the disorder can go unnoticed until adulthood, as there are usually no other noticeable symptoms until the person hits their 20s to early 30s.

Other subtle signs can be bluey-black ear cartilage, reddish brown ear wax and brown or grey spots on the whites of the eyes.

The person’s sweat can also discolour clothing. Effectively, those who have it can be likened to a human ticking time bomb.

Josie said: "There was so much to worry about, a lot of awful things to process, I was just reeling initially and it took a good few months to actually digest the news."

Both parents must be carriers to pass on the faulty HGD gene. Each child of two carrier parents has a 25% chance of inheriting lkaptonuria.

It is so rare that only an estimated 100 people in the UK have it. Both Josie and her husband tested positive for the altered gene. Their son Zane, six, is not affected and not a carrier.

Josie added: "You realise there is nothing you can actually 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 as all that acid remains in the body all that time. But I can only cope by focusing on the here and now.

"I count myself lucky in many respects because Sophia gets to have a good life until the condition takes its toll. It seems so far away it can feel hard to process, then I will see her dark ear wax and remember."

There is currently no specific treatment or cure for AKU, though the medicine nitisinone – designed for different medical purposes – is used ‘off label’ to reduce the level of HGA in the body.

Josie says: "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 have to hope we still have 14 years ahead of us before her body is impacted. We have to do a lot of hoping! And we can raise money so scientists can make leaps and bounds in paediatric concerns.

"The hardest part is going to come when Sophia is 18. She will be an adult and maybe by then we have got to the point where she can make good decisions about her options. If I didn’t have the AKU Society and their support, I would feel so isolated."

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Sophia, meanwhile, is a strong willed and capable little girl. She will have hospital check-ups every five years but otherwise can live normally. For now.

"She learned to ride her bike without stabilisers during the coronavirus lockdown. She loves to draw, make crafts and climb trees with no fear. And she loves to sing, dance and dress up.

"She plays with Lego and Playmobil.

"Sophia and her brother Zane adore each other and are the best of friends. We are so lucky. All we can do is let her be a child, and live in the present – while hoping for a future."