Scots boy is one of handful diagnosed with rare condition – and the only one still alive – Daily Record

Posted: March 2, 2020 at 4:49 am

Little Finlay Duthie is one a billion or 7.8billion as he is the only known child in the world to have a condition which could end his life at any time.

Finlay, 11, has hyper-oricemia pulmonary hypertension (HUPRA) a genetic syndrome only discovered in 2010 in three children in Palestine, who have all died.

But Finlays condition is a unique mutation of the condition which means his parents cannot tell how it will progress.

He was only diagnosed a year ago after years of genetic testing.

In the cases of the Palestinian children and the handful subsequently diagnosed around the world with HUPRA, all were dead by four years old.

HUPRA is an extremely rare mitochondrial disease.

Mitochondria are structures in cells which convert food to energy but in HUPRA patients they dont charge properly causing failure in vital organs.

Finlay will be prone to heart disease, diabetes, epilepsy and faces losing his sight and hearing.

His kidneys have already failed and dad Ross, 36, gave him one of his five years ago.

But, like all kidney transplants, the organ will not last for life so mum, Jennifer, 36, has already been tested as a match and is on stand-by. She said: We had hoped to get him to his teenage years without the transplant but his kidneys failed.

He is now on anti-rejection drugs which means his immune system is low so he gets really ill and ends up in hospital with bugs most people would shake off in a couple of days.

Finlay has had 13 operations including ones for biopsies when cancer was feared on two occasions because of the increased risk with anti-rejection drugs.

Although he is 11, he has a mental age of three because one of the other effects of the condition is global developmental delay. He also has autism. Former nurse Jennifer, who runs a toddler sensory group, added: Finlay is normally a happy little guy really cheeky and always has a smile on his face. He has no awareness of how unwell he is.

The couple, from Stirling, have another son Harrison, 15 months, who is a carrier but unaffected.

Jennifer said: Finlay has some of the same symptoms as other HUPRA patients and some different ones. We think he is the only one in the world with this variation.

It is good in a way because his variation has allowed him to live longer. But it is also a double-edged sword because we are dealing with something no one knows about.

We have no idea what the future holds.

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Scots boy is one of handful diagnosed with rare condition - and the only one still alive - Daily Record

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