28 February is Rare Disease Day: today more than 50,000 diseases of the human body are known. Around 6,000 of them are “rare”. But what’s life like with a rare disease? How does it feel to be one of the few? In the interview Petra Strack (36) recounts how she was diagnosed with spinal muscular atrophy aged 18 months.
Ms Strack, you suffer from spinal muscular atrophy, a rare disease. What is SMA and how does the disease manifest itself?
Spinal muscular atrophy is a hereditary disorder involving a gene defect that prevents the production of a certain protein. Motor neurons in the spinal cord rely on this protein to function. This protein deficiency causes the neurons to deteriorate markedly so they can no longer control muscles. The result is severe muscle weakness that manifests itself in substantially impaired lung function and a sharp drop in general muscle strength.
When is SMA usually detected?
That depends on the type of SMA. But with the severe forms you can already tell from early childhood that there’s a problem. Very often though sufferers endure a gruelling odyssey before getting the right diagnosis. That’s because the symptoms are non-specific and not every doctor realises straight away that “it could be SMA”. With me personally, SMA was diagnosed when I was 18 months old, although my parents noticed around six months earlier that something was wrong.
How can you identify the disorder?
Children with SMA don’t run through the normal milestones. Turning over, sitting up or walking. Muscle weakness prevents them from doing all these things and that’s how you notice something is wrong. Babies move much less and in severe cases you notice their breathing is flatter.
How important is early diagnosis for the course of the disease?
It’s vital. The earlier you administer available drugs, the less severe the symptoms will be later on in life. The latest studies show that the earlier you treat the disorder, ideally before the onset of symptoms, the better the treatment outcome. This specifically affects life expectancy and, in particular, quality of life. A child treated before the onset of symptoms will grow up almost normally.
How is the disorder diagnosed nowadays in the surgery?
Since the advent of DNA testing, the diagnosis is a bit easier. But the doctor of course has to do the test in the first place. And, as I mentioned before, this is not straightforward as doctors don’t always think about testing given how rare SMA is.
Newborn screening in future is a welcome development. This will allow a much earlier diagnosis. But that’s only beneficial thanks to the availability of therapeutic drugs. Early diagnosis was less of an issue in the past as you couldn’t really do anything anyway.
How would you rate the level of information among the medical profession?
I’d say it’s poor. The problem of course is that the disorder is very rare. And if you’re not lucky enough to come across an expert, your doctor will probably not be familiar with the condition.
I believe it’s important for doctors to have access to sources of information where they can find the information they need quickly and reliably. That also applies to cases involving an existing SMA diagnosis. With a bone fracture, for instance, you need a different approach for someone with SMA than you do with someone without the condition. Ideally, doctors need to know that prior to treatment.
Identifying patients is not just a major challenge for doctors, but for pharmaceutical companies too. What advice would you give them?
There are patient organisations and self-help groups for all kinds of disabilities or conditions. With SMA, we’re incredibly well networked through social media and actively share information in forums. And this channel allows you to clearly identify the patient group along with its needs and wishes. Focus groups can help you effectively reach these patients and work together with them.
The social network groups tend to be Facebook groups. In one group, 150 women with SMA – all of them from Germany – share their experiences.
And what should pharmaceutical companies bear in mind with communications?
It’s crucial that you approach the administrators of these social media groups transparently. It’s also important to ask more questions than thinking you already have the answers. I’ve realised that what doctors think, say and do is often very different from what patients ultimately experience.
Pharmaceutical companies ought to listen more to patients than simply trust what the medical profession says. Because, particularly with rare diseases, patients are often better informed than many experts. Necessity forces them to read up on the subject more than anyone else presumably would.
Spinal muscular atrophy (SMA) is a disorder that destroys the neurons in the spinal cord. These neurons normally control muscle movement. A defective SMN1 gene (survival of motor neuron gene 1) causes the disorder. This gene normally produces a protein that is important in neuron maintenance. The absence of this gene causes neurons to die.
One serious consequence is muscle atrophy, particularly on the arms and legs, later on the entire trunk. As the respiratory muscles are also affected in many cases, patients tend to need ventilation therapy. The most severe form of the disorder, type 1, often prevents affected children from sitting up or holding their head upright. Many of these young patients die before the age of two. New therapeutic approaches offers sufferers hope of substantially better health and development opportunities.
