Living with DMD: Ensuring equal access to quality of life

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After decades in the research wilderness, we are in a golden age of possibilities for the boys and young men living with Duchenne muscular dystrophy (DMD). But that doesn’t mean the battle is won – making sure everyone gets access to those treatments, not to mention the ‘essential’ interventions that can make life worth living – is key.

Agnieszka Volkov, president of Parent Project Muscular Dystrophy Poland (PPMDP), Małgorzata Kamińska, a teacher at the University Clinical Centre in Gdańsk and Action Duchenne’s chair of the board of trustees Janet Bloor, talk to pharmaphorum about the struggle for equal access to drugs, research, services and education for people with DMD.

Left to right: Małgorzata Kamińska, Agnieszka Volkov and Janet Bloor.

An improving picture

DMD, a genetic disorder that affects around one in every 3,500 boys, is characterised by progressive muscle degeneration and weakness. Parents tend to notice the first symptoms between the ages of three and five. Once diagnosed, most will need a wheelchair by the time they are teenagers.

With life-threatening complications, including cardiomyopathy and respiratory difficulties, being common, it is an extremely difficult condition for families to come to terms with.

Until relatively recently, boys with DMD did not live much longer than their teens, but life expectancy is improving. Survival into the early 30s is becoming more common and some even live into their 40s and 50s.

Access to research

It’s a very different picture compared to when Janet Bloor’s son Philip was diagnosed, aged nine, in 2002.

“Now we have a reason to hope, and I actually believe we are in a golden age of research. Before, there was nothing, but now there are possibilities,” said Janet, a legal advisor and barrister who became involved with Action Duchenne after Philip’s diagnosis.

Innovations in care for people with DMD has been driven, as is the case in many long-term conditions, by the voices of parents like Agnieszka and Janet, who have become experts in their sons’ health.

Many of the advances seen today, for example, have been made possible by expanding access to clinical trials – something advocacy groups like Janet’s have called for over many years.

“Previously, trials have been largely based on the younger boys, those who are still walking,” explained Janet.

Eligibility criteria, she added, usually included being able to complete a walking test, meaning many were excluded from taking part, despite possibly being able to benefit from the drug in question.

“Walking is not the be-all and end-all. Staying alive is slightly more important: your heart and lungs are the two things that are going to kill you, so let’s concentrate on that.

“Now, they are listening to patients and saying, ‘ok, we can do measurements on upper body strength and arm strength’.”

Access to services

No matter how many treatments are available, it makes no difference if people can’t access them, stated Agnieszka, who founded the Poland Parent Project after her son Maks was diagnosed at the age of three and she was struck by the lack of available information and support.

“In our country, the government will not pay for one of the drugs because they say it is too expensive. But the UK is paying for it,” she said, adding that inequalities don’t only exist between countries.

“People with rare diseases are discriminated against in healthcare. The biggest problem is that parents have to get money for everything – physiotherapy, drugs, wheelchairs, and that’s sometimes impossible.”

Małgorzata said that this lack of access to basic equipment and services was just as important – if not more so – than access to drugs.

“The first thing we need to do is get money for parents to make their lives easier and to buy things like wheelchairs,” she added.

Organisations like Action Duchenne and PPMDP are fighting to give everyone the same level of care and, consequently, quality of life.

“I say thank goodness for the NHS, because we have wheelchairs and adaptations covered. They are the essentials. Unless you have an adapted house that you can get the wheelchair into, physiotherapy and everything else is going to be even more difficult,” explained Janet.

Access to education

There is still a hill to climb, but that’s not to say there haven’t been successes along the way. In fact, advocacy groups that represent the voices of people with DMD and their families have been a driving force in care improvements.

“Duchenne treatment started in Poland because Agnieszka started the PPMDP. Before that we had nothing, and the first standard of care was translated from America,” Małgorzata commented.

All three agreed that there is still a need to educate healthcare professionals on this rare disease.

“This is one of my major bugbears. There are centres of excellence in the UK, but you can find yourself in A&E on a Bank Holiday Monday with a junior doctor who has never seen Duchenne’s before.

“There are certain rules with Duchenne’s and if the doctors don’t know, you have to be the expert in your son’s disease. You have to be the guardian at all times,” explained Janet.

Małgorzata added: “The problem we have is that parents have this knowledge, but doctors do not necessarily want to rely on this knowledge.”

Access to hope

Despite the challenges ahead, there is fresh hope on the horizon for people living with DMD and their families.

Life expectancy is increasing, treatments are proving successful and people with the condition are achieving things that would have seemed impossible just a few years ago.

But making sure everyone has access to the services and care that can make the very real difference between life and death is the next step. That’s exactly what Agnieszka, Małgorzata, Janet, and thousands more like them, are fighting for.

This article is part of a DMD Spotlight series produced by pharmaphorum in conjunction with Santhera Pharmaceuticals.

Other articles in this series:

Duchenne’s disease: A New Hope

Can people with Duchenne be in charge of their own lives?

Living with DMD: Inspiring each other’s futures

Linda Banks

24 May, 2018