Advice Centre

Jan

Rare Disease Day 28th February 2021

At IMD Solicitors we like to promote awareness and education with a view to ultimately promoting better public health.  Therefore, as we recognise Rare Disease awareness day I am going to write about why this is necessary and how we can together make a difference to those who may have a rare disease.

We do not have to look far to see what an unknown disease can do given that we are in thick of a pandemic which until 15 months ago nobody knew about, yes, I am referring to the Coronavirus.

Undoubtedly there has been so much progress on the medical front to recognise many diseases and to offer hope those who suffer from various ailments but there are still some rare diseases which are unknown and do not have the recognition or funding which means patients who suffer from rare diseases and their families are often left hopeless.  We may not appreciate the logistical challenges a patient with a rare disease could face unless we know someone going through it.   Hence the reason for Rare Disease Awareness on 28.2.21. 

What is the purpose behind Rare Disease Awareness day?

One in 17 people will be affected by a rare disease.  According to the European Union worldwide there are about 6,000 patients with a rare disease.  Collectively, about 3 million people can be affected by a rare disease. 

A person with a rare disease may find that their condition takes 4 or 5 years to be diagnosed. This would affect their treatment and the management of the disease.  Patients and their families may feel they are unsupported

A rare disease could be rare conditions like Progeria. This is a rare progressive genetic disorder disease in children that can make them age quickly. Often these children are normal at birth. 

Another rare disease is Morgellons disease. This is a rare disorder which affects the nerves and fibres surrounding the skin causing the patient to experience stinging and crawling sensation in their skin.

At IMD Solicitors we support clients with delayed diagnosis of conditions like cancer but where a person has a rare disease, quite possibly these people feel almost abandoned because the condition is not known.

What is being done to done to support patients with Rare diseases?

The Department of Health and Social Care published The UK Rare Disease Framework on 9th January 2021.  A link to this helpful framework is below.

The framework seeks to

  • To raise awareness
  • To help patients get an earlier and faster final diagnosis
  • To promote better coordination of care
  • To improve access to specialist care, treatment and drugs

Why is this necessary?

  • To give Patients a voice
  • To promote collaboration
  • To support pioneering medical and health research
  • To promote wider policy alignment of better health care
  • To build advances in diagnostics technologies such as genomics and data analysis
  • To remove barriers to improving coordination

Charities such as the Genetic Alliance UK which is a membership umbrella organisation of more than 200 patient organisations are actively campaigning to promote awareness of rare disease and they also provide valuable information and support to patients and their families with rare disease.

What can we do?

  • Recognise the need to raise awareness
  • Support those who might have a rare disease and listen to them
  • Get involved with charities with their many ‘feel good’ events

The most important thing each of us can do it to listen to someone who might be suffering from a rare disease. Just because a disease does not a have name or is not widely known it does not mean the patient and their family are not suffering. Some conditions  could be potentially life threatening, life -long or indeed very debilitating.

To conclude, it is great that there are many patient organisations, charities who are campaigning for change. The Government and the Department of Health and Social care are also playing a vital role in  supporting better awareness of rare diseases, this way, together, we can all empower those with rare disease in getting better and faster care so that they don’t feel alone.

Further helpful information can be found from Genetic Alliance UK and the UK Rare Disease Framework, the links are below.

Source:

Genetic Alliance UK https://geneticalliance.org.uk/

https://www.gov.uk/government/publications/uk-rare-diseases-framework

This article is for general information only and does not constitute legal or professional advice. Please note that the law may have changed since this article was published.


Published by Daxa Patel

Clinical Negligence Solicitor & Partner

IMD Solicitors LLP

27/01/2021


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