About Us

About Us

​Hi Everyone

Welcome to our Brand New Web Site. We are pleased to bring you this site to help you find more information on Ultra Rare Diseases. We have been working in this field for many years when we set up The Cavan Tommy Hoey Trust, and The Ultra Rare Disease Disorders and Disabilities Foundation and now our new site Ultra Rare Disease Uk.

We want you to feel at home on our site. Like all our other sites you will find up-to-date information and we hope you will become members of Ultra Rare Disease Uk. Our site is to put right the wrongs of the European Plan for Rare Disease. We want to have Ultra Rare Diseases included in the plan to enable patients with Ultra Rare Diseases have the same rights as patients with rare diseases as we know Ultra Rare Diseases are a lot different from rare diseases. Let us try and explain why:

As Markus Russ Partner & Ceo of Concilius Europe sprl
Those diseases affect a very small numbers of patients. A rare disease is one that affects fewer than 500 patients per million of population, a disease is generally considered to be ultra-rare if it affects fewer than 20 patients per million of population, but sometimes it affects even fewer patients. Even though the cases are rare, the impact of those often chronic and life-threatening illnesses on patients and their families are profound.

​The problem with those diseases is that typically only a limited number of scientists or companies explore them and only few physicians are able to diagnose and treat them, for which reason it is very difficult for patients to get an effective therapy.

When developing so called “orphan drugs” to tackle these diseases, one of the biggest challenges are clinical trials – given the very small number of patients affected it is difficult to identify a sufficient number of participants. Less clinical trials result in less registered medicinal products. Moreover the return on investment for these products is low, and thus there is no real incentive for the industry to engage in this field. To date the European Commission has authorised 106 orphan medicines for the benefit of patients suffering from rare diseases. However, there are between 6,000-8,000 rare and ultra-rare diseases that have been identified so far.

The EU Regulation on orphan medicinal products states that patients suffering from rare conditions deserve the same quality, safety and efficacy in medicinal products as other patients and that they have not benefited from medical innovation to the same extent as patients with common diseases. Thus regulatory and economic incentives are required to ensure that patients suffering from rare conditions can benefit from advances in medical innovation. Furthermore, cooperation between the Member States, the pooling of information and expertise as well as funding for research - e.g. through programmes such as Horizon 2020 - are ways to tackle the barriers that these products face.

Not all of these challenges will be solved in this week’s high-level expert meetings, but all of these activities constitute important steps towards more effective treatment options and healthier, better and longer lives for people who suffer from those afflictions.
The Ultra Rare Disease Foundation has been working to get the Uk Government to change its policy to Ultra Rare Disease we are also lobbying the Northern Ireland Assembly to change its policy on Ultra Rare Diseases we feel it is everyone’s right to have treatment and to ring fence the treatment of patients who have been born with Ultra Rare Disease it is not right that the few without a voice will; be left out of much needed treatment.

Living with an ultra-rare disease is a huge commitment it not only affects the patients but it affects every single person in the family circle no one knows what it is like to have a diagnosis of an Ultra-Rare Disease with in a family unit no one will know until they walk in the shoes of a family who has had a diagnosis of an ultra-rare disease. The Ultra Rare Disease Disorders and Disabilities Foundation wants to see patient’s drugs ring-fenced for the life of the patient we also want to see round the clock support for carers and families who are looking after a patient with an Ultra Rare Disease.

We hope you will support our cause we stand up for patients who cannot stand up for themselves we know if it was to happen to a child in our family we would want the best treatment and best care for our child join with us by registering your support and become a member of Ultra Rare Disease Uk you can also show your support by donating to our cause on our site thank you to all our members, help us to stand up for children without a voice

Best Regards Terence Hoey Ceo
The Ultra Rare Disease Disorders & Disabilities Foundation