New treatment enables youngster with rare genetic condition to compete in first ever sports day

New treatment enables youngster with rare genetic condition to compete in first ever sports day

New treatment enables youngster with rare genetic condition to compete in first ever sports day

21st Dec 2018

A schoolboy diagnosed with X-linked hypophosphataemic rickets at two years of age has wowed his family, friends and teachers after completing his first sprint race following a new treatment.

Brandon Dunn, five, from Skelmersdale had struggled with simple tasks such as walking to school due to the condition, which is due to low levels of phosphate in the blood leading to poorly formed bones (rickets) and bone deformities including bow legs.

 

The condition can also cause bone pain, short stature and sometimes tooth abscesses.

 

Mum Donna, who also suffers from the rare genetic condition, said: “I first noticed problems with Brandon’s legs when he started walking, by three the bones had started to bend.

 

“Brandon underwent more than five hours of surgery, which involved breaking the bones in multiple places and straightening the legs with splints.

 

“He was in a wheelchair for 12 weeks.

 

“When he started walking again he still struggled to bend his knees as he related the movement to pain.”

 

Brandon found it extremely difficult to take his phosphate medication due to the taste, even when his parents tried to disguise it with juice. The medication needs to be taken four times a day for it to be effective. In addition he had to take special vitamin D preparations on a regular basis.

 

It was the family’s only option until they were offered the chance to take part in an early access scheme to trial a new type of treatment in April 2018.

 

The treatment involves fortnightly injections of a new disease specific recombinant monoclonal antibody, which binds to the excessive chemical in the blood (FGF23) thereby reducing phosphate loss in the urine.

And, just months later Brandon had completed his first ever race and received a school star award for his efforts.

Donna said: “Brandon has never been able to fully participate in PE lessons with his friends before let alone finish a race”.

“Since starting on the new therapy, he is a lot more active and happy, suffers much less from tiredness and bone pain.

 

“This is the first race he’s ever finished and he ran the whole 80 metres. He wasn’t the fastest, but he wasn’t that far behind.

 

“I was so proud!”

 

Brandon after surgery 2.jpeg

 

 

Brandon star award.JPG


 

Brandon’s younger brother Tyler has the same condition and has also been treated with the injections.


Donna is hopeful that the boys will have an improved future with a reduction in long-term pain as a result of the treatment.

 

She said: “I really wish this treatment had been available when I was younger. The only treatment available for me was phosphate, which made me physically sick.

 

“I still can’t cross my legs. If I’ve been on my feet all day my legs just give way.

 

“I’m always twisting my ankles, which means I end up walking on crutches.”

 

Donna added: “It’s so great to see the boys now running about, climbing on furniture and keeping up with their classmates.”

 

Alder Hey is one of the first children’s hospitals in the country to trial the new treatment, which has now been approved by the National Institute for Health and Care Excellence (NICE).

 

Consultant Paediatric Endocrinologist Dr Senthil Senniappan said “I am pleased to see the remarkable progress Brandon has made with the new treatment; it has helped resolve the years of challenge that the siblings had in taking multiple oral medications on a daily basis.”

 

The metabolic bone service at Alder Hey is part of the Endocrine department.

 

Lead for the metabolic bone service Dr Renuka Ramakrishnan said: “The patients needed to fulfil rigorous inclusion criteria and initially have regular injections and blood tests at the hospital with a plan to move to the injections being administered at home later.

 

“The early access scheme has shown good results with improved phosphate levels, less pain and higher energy levels enabling children to take part in more physical activity.

 

“We are continuing to collect data in the form of a registry.”

She added: “There are a number of new treatments on the horizon for bone metabolism related problems; and Alder hey is also likely to be part of these trials.

 

“We’re proud to be supporting new advances in medicine.”

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