Atypical haemolytic uraemic syndrome is a rare condition that is also a deadly one. For 10- 15% of aHUS patients who do not receive timely treatment, the outcome is death within a year of the diagnosis. It is believed to affect about 2 individuals in a million every year but despite its rarity the disease comes with devastating results.
The condition impacts the body’s blood system by causing small clots to form in blood vessels. Damage to small blood vessels in the kidney, other organs including the heart and brain can cause rapid deterioration of overall health. Patients have to undergo blood transfusions or be on a dialysis support system for their life.
In Australia about 70 individuals have been diagnosed with atypical haemolytic uraemic syndrome also known as aHUS. To treat these patients for their condition, there is a lifesaving drug treatment that goes by the name of Eculizumab but comes at a hefty price of $500,000 a year per patient.
One such patient, Bianca Scott was first diagnosed with the condition at the early age of 7 months. At the time it took two blood transfusions to save the young girl’s life but after 16 years the very rare condition has remerged once again and is threatening the teen’s life. Bianca needs to undergo plasma exchange and kidney dialysis regularly and repeatedly to keep her alive. The teen has also suffered kidney failure and the current treatment can only hope to prolong her life while being unable to prevent an aHUS patient’s organs from failing.
Eculizumab, on the other hand, has been seen to be effective in treating aHUS. The drug has already helped 10 aHUS patients in Australia but with the price tag of $500,000 per year, not all aHUS sufferers can afford it. Only the handful of individuals on the compassionate grant fund have been able to avail its life saving benefits. But even that scheme is no longer taking new patients.
The drug is not subsidised for aHUS patients within Australia while elsewhere in the United States, the United Kingdom, Japan and Turkey it is fully funded by the governments. In Australia Eculizumab is only funded for the treatment of another rare disease known as paroxysmal nocturnal haemoglobinuria or PNH. For Eculizumab to be subsidised for aHUS, another submission needs to be made to the Life Savings Drug Program.
For Bianca Scott, donations from friends, family and strangers has made it possible to acquire five doses of Eculizumab. The first four doses of the drug are administered once weekly and then it is given fortnightly after that. Early treatment with Eculizumab can make it possible for a patient to come off the dialysis than those who receive the drug later.
However for individuals like Bianca who have a genetic predisposition to developing the condition, since one of her uncles also suffered from the same condition that claimed his life at the age of 6, drug treatment may need to be continued for the rest of their lives.
1) Australian sufferers of aHUS want vital medication Soliris funded under Life Saving Drugs Program: http://www.news.com.au/lifestyle/health/australian-sufferers-of-ahus-want-vital-medication-soliris-funded-under-life-saving-drugs-program/story-fneuzlbd-1226832712047
2) First dose of Soliris for Coast teen Bianca Scott as her desperate mum keep campaigning: http://www.goldcoastbulletin.com.au/news/gold-coast/first-dose-of-soliris-for-coast-teen-bianca-scott-as-her-desperate-mum-keep-campaigning/story-fnj94idh-1226827937720
3) Teenager Bianca Scott faces lifetime of kidney dialysis without $500,000 a year drug Soliris: http://www.couriermail.com.au/news/queensland/teenager-bianca-scott-faces-lifetime-of-kidney-dialysis-without-500000-a-year-drug-soliris/story-fnihsrf2-1226793911271
4) Anger as life-saving drugs stuck in federal bureaucratic limbo: https://www.rarevoices.org.au/news/18/anger-as-life-saving-drugs-stuck-in-federal-bureaucratic-limbo
5) Mum in desperate fight for her daughter’s right to life: http://www.warwickdailynews.com.au/news/mum-in-fight-for-her-daughters-life/2154926/
6) Fight for Soliris Funding: http://www.pnhsaa.org.au/fight-for-soliris-funding/