LIFE can be a surprising business - just ask university academic Dan Johnstone. Five years ago at the age of 26 Dan was enjoying life to the full. He was playing rugby union, delighting in travel and music, particularly his guitar, and passionate about his career as a medical researcher. Part of his professional focus at the University of Newcastle, NSW, was investigating the effects of haemochromatosis on the brain and heart.
Haemochromatosis â€“ iron overload resulting from excessive absorption of iron from food - is the most common genetic disorder in Australia and about one in 200 people of north European origin carry the genetic risk. Left undetected and untreated the excess iron can cause tissue damage and potential death.
Dan, originally from Tenambit in the Hunter Valley, was absorbed in discovering and decoding â€œthe mysteries of life, health and diseaseâ€ and after four years of study to complete his PhD had gained a valuable insight into the extent and effects of haemochromatosis.
But he was also feeling lethargic, which at first he blamed on overwork, as he knew he had been working excessively long hours. However when his GP ordered a range of blood tests for an unrelated medical complaint, Dan discovered with a mixture of surprise and shock that he was suffering from haemochromatosis.
Lethargy â€“ along with fatigue, weakness and joint pains â€“ is one of the key symptoms of haemochromatosis and linked to high levels of iron stored in the body. One indicator of the level of stored iron is serum ferritin. The normal range in men is 20-300 micrograms per litre of blood. Danâ€™s level was closer to 950.
His treatment, as in all haemochromatosis cases, required the regular removal of up to 500mls of blood â€“ a process known as venesection - until his iron levels returned to within the normal range. His parents and siblings were all later tested and his father was shown to have higher than normal iron levels requiring venesection.
Now at 31 and contemplating a return to the rugby field, Dan is philosophical about his experience and the irony of researching a medical condition only to become a patient himself. â€œI was surprised then intrigued by the coincidence,â€ says Dan. â€œMy choice of PhD research topic had nothing to do with any previous notion that myself or my family may have been afflicted by the condition. I think my situation really highlights how under-recognised this condition is. If someone working specifically on haemochromatosis can go through life totally unaware that they are affected by the condition, what chance of detecting it early have people who have never heard of haemochromatosis?â€
Most health professionals agree that early diagnosis is the answer to combating the potential long-term effects of the body storing too much iron, particularly as there is no natural way of excreting the excess and regular venesections can take up to 18 months to re establish normal iron levels.
They also recognise that haemochromatosis tends to be under diagnosed partly because its symptoms â€“ they include abdominal pain, diabetes, bronzed skin, severe irritability and depression - are similar to those caused by a range of other illnesses.
With his experience Dan Johnstone, who is now a post-doctoral fellow at the University of Sydney, is able to offer an insiderâ€™s view of the different attitudes towards haemochromatosis held by some doctors.
â€œIâ€™ve seen several different GPs since being diagnosed with my condition and itâ€™s quite striking how varied their concern is,â€ says Dan. â€œSome are very vigilant and willing to support the venesection treatments while others think it is no big deal and nothing to be too concerned about.â€
For his part, Dan is taking no chances. Apart from an occasional steak, he has reduced his meat intake and continues to have annual blood tests to ensure his iron levels remain within acceptable limits.
Says Dan: â€œI think I was lucky in finding out about my condition and starting treatment relatively early in life before any serious damage had been done. Iâ€™m glad to have had it picked up so early. Early detection underlines the importance of public awareness campaigns.â€
Dan Johnstone can be contacted
or Mob: 0422 074 503
President - Ben Marris 0428 674787
Haemochromatosis Australia is the support, health promotion and advocacy group for people with haemochromatosis and their families. The group has operated continuously for 22 years.
â€¢ It is a not for profit group run entirely by volunteers.
â€¢ It has over 1400 members across Australia.
â€¢ It operates an Information line 1300 019 028 and informative website.
â€¢ It publishes two informative booklets and a quarterly newsletter.
â€¢ It organises local support group and information sessions.
The groups medical advisors include some of the leading academics and clinicians in the field of haemochromatosis, including -
Prof Emeritus Lawrie Powell, Prof John Olynyk, Prof Martin Delatycki, Prof Darrell Crawford, Prof Katie Allen
For more information www.haemochromatosis.org,au
Haemochromatosis, or inherited iron overload disorder, is the most common genetic disorder in Australia. It causes the body to absorb excess iron which builds up in the organs and joints over many years and eventually becomes toxic.
Early symptoms include joint pains, fatigue, weakness and sexual dysfunction.
If untreated it can lead to serious and potentially fatal symptoms including diabetes, liver cancer and cirrhosis, heart failure and osteoarthritis.
Despite being so common (one in 200 have the genetic pre-disposition) it is not well known and is frequently overlooked. Often only the individual symptoms are treated and the underlying cause is not recognised.
Tests for the condition are simple and cheap. If iron studies show raised ferritin on two occasions, or if a first degree relative is diagnosed, then then a genetic test is covered by Medicare.
If people are diagnosed early and treated then haemochromatosis is no barrier to a normal healthy life.
Treatment is simple, drug free and uncontroversial. Regular venesection, like giving blood at a blood bank, unloads iron. Often this can be done at the Red Cross Blood Service and the blood is useful.
Perhaps, if the condition needed pharmaceutical treatment, it would be better known
The inaugural Australian Haemochromatosis Week will be held from 13th to 19th August 2012. The purpose of the week is to raise community awareness of the condition and thus improve the rate of early diagnosis.
HAEMOCHROMATOSIS AWARENESS WEEK
PUBLIC INFORMATION EVENTS
Sydney Information Session and AGM
We will launch Haemochromatosis Awareness Week at a free public haemochromatosis information session on Saturday 11 August 2012 1.00pm at the Parramatta Town Hall. The session will be followed by the Annual General Meeting of Haemochromatosis Australia.
Port Macquarie Information Session
In the lead-up to Haemochromatosis Awareness Week there will be a free public haemochromatosis information session on Saturday 4 August 2012 at 1pm at the Port Macquarie Panthers Club.
Brisbane Haemochromatosis Seminar
In the lead-up to Haemochromatosis Awareness Week there will be a free haemochromatosis seminar on Wednesday 8 August 2012 from 5.30pm to 7.30pm at QIMR, Herston. The seminar will be chaired by Professor Lawrie Powell, world authority on haemochromatosis. Speakers include scientists and health professionals from QIMR, The University of Queensland, The Australian Red Cross Blood Service and the Haemochromatosis Australia.
Hobart Art Exhibition
A group art exhibition for Haemochromatosis Awareness Week to be held in the Stable Gallery, Cooley's Hotel, Moonah from 10 August until 4 September. All welcome! Grand opening Friday 10 August at 6pm.
Adelaide Information Session
During Haemochromatosis Awareness Week there will be a free public haemochromatosis information session on Tuesday 14 August 2012 at 7pm at Burnside Community Hall, Tusmore.
Perth Information Session
During Haemochromatosis Awareness Week there will be a free public haemochromatosis information session on Thursday 16 August 2012 6.30pm at Fremantle Hospital.
Sunshine Coast, Queensland Information Session
During Haemochromatosis Awareness Week there will be a free public haemochromatosis information session on Sunday 19 August 2012 at 2pm at the Sunshine Beach Surf Club.
Melbourne Information Session
As part of Haemochromatosis Awareness Week events, there will be a free public haemochromatosis information session on Saturday 25 August 2012 at 1pm at the North Melbourne Community Centre.
Gold Coast Information Session
As part of Haemochromatosis Awareness Week events, there will be a free public haemochromatosis information session on Saturday 25 August 2012 at 10 am at the Elanora Public Library.
Tony Moorhead Secretary (07) 54 388267 m 0435 375450
FOR EXPERT INTERVIEW OR INFORMATION ON HAEMOCHROMATOSIS
Professor Lawrie Powell AC
Director, Royal Brisbane Womenâ€™s Hospital Centre for the Advancement of Clinical Research
Professor Emeritus, University of Queensland (07) 3646 2352
Professor Darrell Crawford.
Head, Discipline of Medicine. University of Queensland
Dr Katie Goot
Thangool, Queensland 0438 797 659
GP Liaison Officer, Haemochromatosis Australia (07) 4995 8612
Professor Martin Delatycki
Director, Bruce Lefroy Centre - Murdoch Childrens Research Institute
Director, Clinical Genetics - Austin Health (03) 9496 4355
Professor Katie Allen
Group Leader, Gut and Liver Research Group, 0401 002640
Murdoch Childrens Research Institute, Melbourne
Professor John Olynyk
Director of Gastroenterology, Fremantle Hospital (07) 3646 2352
Laureate Professor John Aitken
Newcastle University available for interview by appointment with
(02) 49 212 082
For personal stories of haemochromatosis
Andrew Chapman, Photographer (03) 9752 1492 0418 557 590
David Blackmore, Wagu beef 0408 507 308
Dr. Daniel Johnstone, Sydney University 0422 074 503