Lonely diseases

Coping with a rare illness has its own challenges, writes Maurice Gueret ,ashe takes a look at the unusual disease that claimed the life of Martin McGuinness

Rarest disease

The sudden death of Martin McGuinness serves as a sharp reminder of just how unpredictable health can be. He came third in our most recent Presidential election, looking, then, like a sprightly 61-year-old in the rudest of good health. Indeed, it was the fitness of the much older Michael D with his gammy knee that came under media scrutiny. Martin McGuinness looked like he had many more Aras runs left in him to build on that quarter-of-a million votes. It may be that a disease he had probably never even heard of had already taken hold. Within just a few weeks of his recent diagnosis being made public, a suddenly frail McGuinness was gone. Much of the media coverage said that he had a rare heart disease. The truth of the matter is that he had a very rare disease, but one that defies a single organ diagnosis. While it may affect the heart, amyloidosis is not a primary disease of the heart.

Between stools

So what is amyloidosis? Well, it’s a rare enough condition where clumps of a waxy protein get deposited in various organs of the body. There are less than a handful of cases in Ireland every year. Dr Stanley Jagoe, physician at the old Royal City of Dublin Hospital on Baggot Street had a terrific knowledge of rare medical conditions, and I remember him discussing amyloidosis during a packed bedside tutorial in the medical wing of the hospital. The word ‘amyloid’ means ‘starch-like’. When the condition was first identified, it was mistakenly thought that the stuff being deposited was starch. It’s usually quite late in the disease when it is diagnosed, and the damage is progressive and has often been done at that point. There are some parts of the body where amyloid can happily get deposited without symptoms. But when it gets into the kidneys, the heart, the bowel and the brain, serious complications arise. Patients with such rare diseases can easily be caught between stools. As doctors specialise more and more on single target organs, diseases that don’t have a single-organ focus can lose out on both research and expertise. Amyloidosis merits just two mentions in the current edition of the Irish Medical Directory. It must a lonely disease to have.

No-bounce zone

Trampolines are in the danger zone. News has emerged that one trampoline park in the UK is summoning an ambulance to its doors at least once a week. The NHS now logs hundreds of calls each year to trampoline parks. Fractured limbs, back sprains, spinal and head injuries all feature, and the injury toll has led one orthopaedic surgeon with a special interest in the area to say that he does not allow his own four children to either own a trampoline, or to visit specialist bouncing parks. Standards for the burgeoning industry have just been issued, but for the Southampton surgeon, it’s still a waiver too far. His concern is that the bouncing environment needs constant supervision, just as you would get in an equestrian class. He has particular concerns about young children under the age of five, whose heads are proportionally bigger than the rest of their bodies and who have not gained the muscular control of older children. I’m guessing that trauma surgeon won’t be appearing in a Christmas advertisement for John Lewis any time soon.

Improving Service

I’m always on the lookout for ways that we healthcare folk might learn a thing or two from other countries, or, indeed, from other unrelated sectors. Before email took over from fax, the grandchild of a doctor in the UK was once admitted to a hospital in Singapore as an emergency case. Within a few hours, a fax was sent across the world to medical grandpa in England, detailing the child’s full medical examination, all the clinical test results, a care plan and treatments. He was stunned at the level of service, and asked why the NHS could not compete with what was an everyday service in the Far East. Well I dropped my car up to Mooney’s garage on the Long Mile Road the other morning. Before midday, I had a text on my smartphone with a link to click that gave me the complete low-down on my vehicle. There were four lovely photographs. I was briefed on the 50 things that were right with it and the 10 things that needed action — all marked urgent or not, and priced individually. Minister Harris is visiting an awful lot of hospitals these days to see how they are functioning. I wonder if his car needs servicing?