Rare diseases are known to affect about 6-10% of the Australian population; roughly that equals around 1.2 million people in Australia. Among these conditions like Pallister-Hall Syndrome, chronic inflammatory demyelinating polyneuropathy also known as CIDP and Lyme disease are some examples.
While the United States and certain European countries have the medical facilities and services to cater to these conditions, unfortunately Australia does not. With the absence of medical treatment available for many rare diseases in Australia, patients often have to look to other frontiers for treatment and the procedure may involve patients and caregivers having to travel overseas to seek the needed medical attention.
Pallister-Hall syndrome sufferers experience multiple seizures, may be in need of a kidney transplant and be faced with the threat of cardiac arrests during their illness. Most typically need constant attendance of a caregiver should any of the symptoms occur suddenly. For one such 8 year old boy, Angus Bowles, sudden seizures are caused by the presence of a tumour on his brain.
An operation that can help shrink the tumour and bring Angus’ symptoms to a minimal is available but only in the United States. If untreated the symptoms are likely to aggravate and deteriorate the boy’s health further. Angus’ family is planning to take the trip to America and can well do with all the support they can get. Just the cost of the surgery alone is estimated to be around $90,000 which does not take into account the travelling expenses or any others that will be incurred during the stay there or during recovery.
Another rare disease known as CIDP affects the nerve endings in patients and has the potential to impact mobility drastically. Steve Pullen, former Sunshine Coast Ironman champ suffers from the rare disease and now needs help while walking.
Likewise, another rare disease known as Lyme disease does not have any medical treatment options for sufferers in Australia. The condition is not recognised officially in Australia and patients need to seek proper medical attention elsewhere. For Sheridan Jones, a Mortlake resident, the growing symptoms of shaky hands, deteriorating eyesight and restricted mobility were all very confusing. With no medical diagnosis for the condition available locally, MS. Jones also had to look for treatment options abroad.
After a string of blood tests, CT and MRI scans, predictions that she might be suffering from MS, and a series of trails and errors, the former property manage got word that she may have contracted Lyme disease. Her blood sample were sent to Germany for testing where the condition is more commonly understood and came back with a conformed diagnosis of Lyme disease.
Since then the confusion surrounding her condition has been lifted and following a regular regimen of medication has helped regulate her symptoms. Along with taking the proper drugs, Ms. Jones also has to take extreme care to stay away from certain foods like yeast, dairy, gluten and sugar based foods so that her body can respond beneficially to the treatment.
To treat her condition, she will need to travel to Germany or the US and get treatment at a facility that looks after Lyme disease patients. The expenses involved are expected to be exorbitant including travel and lodging during her stay abroad.
1) Family looks to America for life changing treatment: http://www.warwickdailynews.com.au/news/one-step-at-a-time-father-phil-bowles-walks-hand-i/2238301/
2) Friends rally as former ironman champ faces health battle: http://www.sunshinecoastdaily.com.au/news/friends-rally-for-ironman/2232939/
3) From medical mystery to costly overseas treatment for Mortlake woman: http://www.standard.net.au/story/2018263/from-medical-mystery-to-costly-overseas-treatment-for-mortlake-woman/
4) The common problem of rare disease in general practice: https://www.mja.com.au/journal/2006/185/2/common-problem-rare-disease-general-practice