In a lively program of medical presentations from 11 experts, the audience of US- based patients – plus several who had made the pilgrimage to the St Louis from the UK – were given hope that recent genetic discoveries and developments could pave the way to a better quality of life for the one million men, women and children around the world who are thought to have the disease.

The conference also broke new ground for research into Melo when it set aside time for blood and DNA to be gathered from each patient – and where possible from their immediate family members. The samples will be used create the first Melo tissue repository; from which detailed further analysis can be made possible.

Although much of the two-day event was dedicated to scientific and medical considerations and debate, patients had access to doctors during scheduled breakout sessions and informal social gatherings, and were also given private time with which to discuss their own Melo challenges. Many arrived with medical notes and x-rays; which were also scrutinised and considered by the panel.

Taking comfort from news that the identification of the rogue gene which is believed to cause Melo – known variously as LEMD3, MAN1 and SANE – is a signficiant step forward, they were also wisely counselled about keeping the development - and their expectations – in perspective.

“Although the implication of a gene as the cause of Melo is clearly important to everyone, the tendency for patients with little else to cling to, to imagine that the breakthrough will lead to a cure overnight should be resisted,” cautioned Professor Roger Smith; Emeritus Consultant and Honorary Metabolic Physician from Oxford's Nuffield Orthopaedic Centre.

“In truth, the main effect of a gene discovery is much the same as that which a honeypot has on bees -  it attracts attention and draws interested parties into the open. By doing so, it is inevitable that many more medics and scientists around the world will now be galvanised into action. That in itself places the disease on the global agenda – and that’s the real beauty of such a breakthrough.

“Although this conference is very fortunate to have been able to attract such eminent experts in the various key fields, there are really only three important groups here - families, families, and families.

“It’s one thing trying to grasp just how devastating it is to learn that a loved one has such a debilitating condition, but a completely different matter when that condition is largely unknown. The entire medical panel hopes that by being here with us, every patient can return home with something more tangible and meaningful to cling to.

“After all, rare diseases present themselves to the medical profession as people, not as grossly engineered laboratory mice or samples in a bottle, and that’s why, as medics, we consider ourselves so privileged to be able to see patients in a forum such as this.

“If each patient takes just one thing away from this event, it should be that although we all aknowledge that this wretched disease is going to take some beating, beat it we most certainly will.”