Transforming our rare reality

A key issue is that many parents of children with DMD have to project manage their own care, and that there is very much a postcode lottery across the UK as to which DMD patients receive the best standards of care, and which don’t.  

A survey of 200 people personally affected by DMD found that:

• Only 31% of people thought that healthcare professionals generally had a good or very good awareness and understanding of DMD.
• Only just over half (53%) thought that they and their family have been given the information by their healthcare practitioners that they need to understand DMD and its treatment.

As well as a perceived lack of awareness and understanding of DMD Standards of Care among individuals, it was almost always absent from NHS policies, guidance and plans. Freedom of Information requests to all 42 Integrated Care Boards in England, 14 Health Boards in Scotland, seven Health Boards in Wales, and six Health and Social Care Trusts in Northern Ireland, found that:

• Only 35 have any DMD-specific (or muscle wasting disease-specific) policies or guidance.
• Only 15 of their organisation’s strategies, objectives, plans, performance indicators, audits, inspections, or similar, cite DMD (or any muscle-wasting disease) or use either as a metric.

Although there is no cure for the disease, new medicines that have proved to slow down its progression have been developed. We are concerned that the current health technology appraisal system is not able to assess them quickly enough, particularly as time is of the essence when it comes to a progressive condition such as DMD.

A key part of the problem is the changes to the National Institute for Health and Care Excellence (NICE) health technology assessment pathways.

• In 2022, the NICE introduced four new routing criteria to replace the previous system used to determine whether a treatment would be assessed through the Single Technology Appraisal (STA) route, or the Highly Specialised Technology (HST) route. These new criteria do not favour rare diseases such as DMD, because they determine that DMD is too common. They introduced a requirement that a treatment with more than 500 possible patients must be assessed through the standard STA, and not the more flexible HST, which we believe disadvantages conditions like DMD.

As well as treatments for DMD, assistive technology is an important way to help people with DMD manage as their muscles waste and they lose limb function. There is a serious lack of innovation in the assistive technology sector. Although upper arm assistive devices have the potential to improve quality of life for people with DMD by enabling them to continue performing daily activities, most have been designed for rehabilitation to regain strength and motor control and not to assist people with DMD during activities of daily living.

Compounding these challenges is a lack of awareness or understanding of the disease which further adds stress and anxiety to families. They are constantly having to explain to others what DMD actually is. This takes a huge toll on people with DMD and their families as it is not only frustrating to have to keep explaining something very painful, but this is usually within the context of having to fight for help and support to which they are entitled but which hasn’t been forthcoming.

A survey of 200 people personally affected by DMD found that:

• Almost a third of people (31%) surveyed reported having to explain it once, or more than once a week.

“It’s very hard to get the right support for my son and that makes me very sad, frustrated and feels very lonely and difficult to have to constantly explain.”

Parent of child with DMD

“My little boy is only 18 months so I guess things aren’t as impactful at this moment. However, it can be difficult in public, say at a play park where other parents are shocked to hear his age and realise he isn’t mobile yet. Seeing other children his age, running around and playing in a different way can also be quite challenging. It’s almost too much to say ‘oh he has Duchenne’ because you’re then faced with more confusion, little understanding, awkwardness or upsetting questions.”

Parent of child with DMD