Huntington Disease (HD): Let’s color our voices! - Rare Disease Day 2021

22/02/2021

LIRH Foundation participates in World Rare Disease Day 2021. The voices of patients and caregivers will take on color through their testimonies: 

• what does it mean to have a rare disease?
• what does it mean to have Huntington's disease?
• if you were the minister of health, what would you do?

The protagonists will answer these questions. Starting from today, February 22, until Sunday, February 28, World Rare Disease Day. 

We have chosen to collect 'amateur' videos, recorded in an authentic, true, spontaneous way.  The graphic editing has the intent to focus on the words of the protagonists: the initial effect of acceleration of images and sounds is suddenly interrupted. Then, the images and the voice of the protagonists take color. 

Lessons learnt

What does it mean to have a rare disease?

• Having a need which is so specific, that people often don't understand
• Seeing life from a different perspective
• It is devastating, on a personal and family level
• Being in a condition that few can understand
• Feeling discriminated and still have the strength to accept it
• Being discriminated because people are unaware about your disease
• Feeling different
• Living with someone who has a rare disease is a complex challenge. It requires the ability to find a balance between the patient's needs and the struggles of everyday life.
• Taking care of a person with a rare disease means giving up many things and having a lot of dedication 

What does it mean to have Huntington's disease?

• Having a constant, daily thought 
• Your daily life, with family, friends, at work is affected by your condition
• Being aware, in a conscious and progressive way, of the disease that one day you will manifest
• Carrying a huge burden, because you have to deal with an uncertain future 
• Hoping that the trials will be successful 
• What happens now? You think about your children…
• The disease changes, transforms over time and you don't know exactly what you're going to face and when 
• Symptoms are different and involve so many aspects: the body, understanding, memories, behaviours. Caring for a Huntington's patient disease is a complex challenge
• Caring for a person with Huntington's disease means dedicating your entire life to them

Recommendations *

1 - Easier and fairer access to healthcare

Simplify procedures for access to care. Make them uniform throughout the national territory.  

Bureaucracy too often turns out to be an obstacle to the access to care. Even if the disease’s needs are equal, their treatment is often unequal. The differences between regions create, in fact, 'A' and 'B' series patients. 

2 - Training of healthcare professionals 

Investing resources in training HCP

The lack of training of clinicians and health professionals is far too frequent. 

3 - Financial Aid 

Supporting families

The economic burden of the disease is high. Especially in the most advanced stage of the disease, when the patient is no longer able to take care of himself.

The partner, when present, is forced to reduce the working hours (and therefore his/her income) in order to assist the patient.  

The economic aid provided to date is not sufficient to ensure a decent quality of life for families.

4 - Formal Recognition of the caregivers’ role

Formal support to caregivers 

Being a caregiver of a Huntington's patient means dedicating your whole life to them. Doing anything to improve the quality of life of your loved ones. 

The caregiver Bill must be taken up and completed. 

It is necessary that their role is not only acknowledged, but also supported with adequate and continuous incentives. Taking into account the chronicity and degeneration of many rare diseases. 

5 - Scientific research

 Support research, quantitatively and qualitatively

Research is the only real hope for many rare diseases.

Huntington's disease, although treatable, does not yet have a decisive therapeutic perspective. 

Patients ask for targeted and transparent investments in research. Aimed at treating the disease, even in its rarest and most severe variants.

6 - Quality of life

Greater focus of social care

Taking care of a rare patient means treating him from a medical and health point of view, but also providing support from a social point of view. 

Huntington's families feel the need for a more extensive support from the institutions. 

A support that spans from health to social. Psychological, work and school support are still insufficient.

7 - More space for rare diseases in health policy decisions

Co-designing interventions on rare diseases together with Third Sector Organizations 

Our country has a great opportunity: European funds available to invest in health by 2023. 

Rare disease organizations should be involved to promote:  

• Knowledge exchange
• attention to proximity assistance
• attention to telemedicine.

It is also essential to direct resources to the National Plan for Rare Diseases, which is still at a standing point.

8 - Person-centred medicine

Beyond hospitals 

Rethink the 'hospital-centric' model of care, which entered into crisis with Covid-19. 

9 - Adequate and accessible home-care facilities

Making available long-term care facilities with trained staff and fair costs. 

When people with Huntington's disease lose their autonomy, both physical and mental, family caregivers are no longer sufficient.

Patients need to be assisted in local inpatient facilities. These, when present, have two major shortcomings: poorly trained staff and high costs.

*This part of the article was written according to the answers to the question: "If you were the Minister of Health, what would you do?" What has emerged is perfectly in line with the Programmatic Report of the Parliamentary Intergroup for Rare Diseases: "Rare Diseases as a public health priority: the five imperative needs of patients".