VP Franchise Head, Kyowa Kirin
With understanding comes hope for the one in 20,000 people with X-linked hypophosphatemia (XLH) – and the next step is building and improving the health services they need to live well with their condition.
Without joined up, holistic care, people living with XLH can end up “suffering in silence”. A recent survey among patient advocacy groups lamented the lack of co-ordination of care/communication between different specialists in this condition. They called for improvements of how children and adults are managed in healthcare systems around the world. The metabolic bone disorder, characterised by excessive loss of phosphate in the urine, is one of more than 7,000 rare diseases and affects around one in 20,000 people worldwide.
“XLH, which is hereditary, is debilitating on many levels,” says Sajid Babariya, VP Franchise Head at Japanese pharmaceutical company, Kyowa Kirin.
“It is devastating, but until relatively recently, we didn’t know much about it,” he says, explaining that phosphate was essential for many body systems, including developing and maintaining healthy bones, muscles, and teeth. It’s only over the last 25 years that the molecular reason for excessive phosphate loss and the genetic defects that cause it were discovered. Now we are uncovering the multiple clinical outcomes due to low phosphate in children and adults and the detrimental impact this condition is having on patients and their families.
XLH, which is hereditary, is debilitating on many levels.
Devastating physical and psychological impacts on children
Now that more is known, the XLH community is calling on healthcare systems to provide faster routes to diagnosis and more joined-up care for those who need it.
Children with the condition start to display clinical manifestations of XLH in early childhood when they start to stand or toddle and the soft leg bones bend under their weight. They are more prone to fractures, experience frequent dental abscesses and can even suffer from hearing loss.
The XLH community is calling on healthcare systems to provide faster routes to diagnosis and more joined-up care for those who need it.
“They are short in stature and they can’t walk straight, they have lots of pain and they can’t keep up with their peers in terms of running, walking and playing,” said Sajid.
“As they get older, they want to do the same as their friends and look “normal”, but they can’t. Many become withdrawn and isolated — the impact is psychological as well as physical, with many children reporting that they are bullied throughout their young lives.”
Adults with the condition suffer frequent pain, stiffness and fatigue, and joint problems such as osteoarthritis and osteomalacia as well as dental and hearing issues. What’s more, due to the genetic nature of the disease, they face the agonising decision of whether or not to have children.
“Somebody described it as being a 20-year-old stuck in a 50- or 60-year old’s body,” said Sajid.
Diagnosis invariably comes late
It’s rarity means primary care physicians do not tend to recognise XLH, and may treat affected children for nutritional rickets, which may appear to have similar bone involvement, and fractures. This can go on for years without a physician making the connection, said Sajid.
After diagnosis, a patient needs input from a multi-disciplinary team (MDT) of healthcare professionals — doctors, nurses, physiotherapists, mental health specialists, and dentists — but this doesn’t happen nearly enough.
“XLH patients need a team of people who understand their condition, the burden it has upon them – including the psychosocial impact – and how to treat them,” said Sajid.
Astonishing progress – XLH patients must re-engage with healthcare services
Thanks to recent advances in XLH understanding, there are now management options that simply didn’t exist before, he went on.
“A lot of people were told there was nothing more that could be done for them when they moved from paediatric to adult services. They have been suffering in silence ever since.
“We now need to reach out to those people and ask them to re-engage with healthcare services that exist as more can be done now,” said Sajid.
With the right combination of early diagnosis, MDT care and holistic management, there is now fresh hope.
“It’s so important to keep people with rare diseases informed of scientific and medical progress, if not, it’s like they are being left behind. There’s a real unmet need among these patient populations, so it’s critical that we keep working in this space and to meet the needs of patients living with rare and underserved diseases,” says Sajid
There’s a real unmet need among these patient populations, so it’s critical that we keep working in this space and to meet the needs of people living with rare and underserved diseases.
KKI/INT/BUR/0660Date of preparation Sep 2020