The orphans of medicine – rare diseases are still called so. Those affected, especially children, have hardly any chance of recovery, years of odysseys from doctor to doctor and numerous false diagnoses are often their fate. The new Centre for Rare Diseases in Children (ZSEGi) at the University Hospital of Giessen and Marburg (UKGM) combines new research approaches with specialist knowledge to treat rare children’s diseases, such as children’s dementia, in the best possible way.
Alzheimer’s dementia: This is a diagnosis primarily given to older people. But very few people know that dementia can also affect children – and children’s dementia is a rare and fatal disease. In addition to children’s dementia – known as Neuronal Ceroid Lipofuscinosis (NCL) – there are a number of other genetically determined dementias in childhood. And all of these currently known genetic defects lead to a progressive breakdown of nerve cells. The spectrum of these diseases is diverse. But all forms of them bring with them dramatic symptoms: just some of them include blindness, epileptic seizures, dementia and motor skills disorders. The only differences are the order and age at which the symptoms occur and the general progression of the disease. In addition, few of the affected children will live to the age of 30.
The biggest challenge in diagnosing children’s dementia – as with many rare diseases – is that the initial symptoms are usually unspecific: In most cases, neither the pediatrician nor the family doctor has the necessary specialist knowledge about the individual symptoms of any one of these approximately 8,000 rare diseases.
A disease is considered rare if less than 5 out of 10,000 people are affected. About 8,000 of these rare diseases are known. More than 80% have genetic causes; often the diseases are chronic and life-threatening. An estimated 30 million people in Europe and 300 million worldwide live with such a disease. 75% of rare diseases affect children and around 30% of these children will die before the age of five.
Centre for Rare Diseases in Giessen offers competent support
The specialists at the Centre for Rare Diseases in Children (ZSEGi) University Hospital Giessen and Marburg (UKGM) want to close this knowledge gap: Since 2019, they have been pooling expertise and experience at their centre. “The aim is to bring together patients with these very rare diseases in one region. Then you don’t have to develop new experiences every time you see the next patient. And you can fall back on a team that has already dealt with these diseases and problems that arise,” explains Prof. Bernd Neubauer, pediatric neurologist and head of ZSEGi. Another aspect that should not be underestimated is the psychosocial support that the centre offers in addition to medical care.
Among other things, Neubauer and his team treat around 80 children per year with spinal muscular atrophy (SMA), a rare hereditary disease that leads to the muscles not being able to develop properly. Untreated, most children have a life expectancy of around 18 months. The disease is not yet curable, but there are currently two drugs that can halt the progressive loss of mobility and thus significantly prolong life and improve quality of life.
Specialized centres such as the one in Giessen are not only of immediate importance for the young patients and their families, but also for science. In Germany, alone, there are a total of four million people affected by a rare disease – and the majority of them are children; however, there are only a few people who suffer from each rare disease. Research results on early diagnosis, disease mechanisms and new treatment options have contributed to a significant improvement in the quality of life and life expectancy for these patients.
New therapeutic approach in the fight against child dementia
Since 2018, enzyme replacement therapy has been available for a specific subform – the so-called late-infantile NCL of children’s dementia – which can effectively stem the progression of the disease. Others approaches are in an early phase of clinical testing. For pediatric dementia, as for most other rare diseases, treatment will be most effective if started as early as possible. Ideally, treatment should begin even before the first symptoms appear. This factor underlines the importance of developing and implementing appropriate newborn screening.
Numerous associations and foundations are now active in supporting research into rare diseases and improving care for patients and their families. On the website of ACHSE e.V. (Alliance of Chronic Rare Diseases) as well as the Care-for-Rare Foundation, which was established especially for children with rare diseases, and the Kindness for Kids Foundation, those affected can find a wealth of information and networking opportunities. With its mission “For a future without child dementia,” the NCL-Foundation cares for children.
Centre for Rare Diseases in Giessen (ZSEGi)
The Centre for Rare Diseases in Giessen (ZSEGi) was inaugurated in August 2019. Their aim is to bring together patients with rare diseases. Their main focus is the exchange of experience and expertise by a competent team.