Families struggle with children’s rare diseases

DW (English)

Around four million people in Germany suffer from a rare disease. The Heidelberg Polyclinic is an expert in this field, enabling it to offer comprehensive assistance to affected families.

Transcript

00:01Timon didn't develop like many other children of his age.

00:04He didn't crawl or roll over as a baby, for example.

00:08His parents took him to the Heidelberg Polyklinic,

00:11which specializes in neurological diseases.

00:14After a year of consultations and tests,

00:16Timon was diagnosed with the rare disease DUP15Q.

00:20Fortunately, we were sitting in the first meeting with doctors,

00:26who could tell us something about it.

00:29They could give us recommendations,

00:31who could give us advice to the club,

00:33so that we had the feeling very quickly,

00:36that we are not so lost in our unawareness,

00:40but we can somehow adapt to it.

00:43The DUP15Q Competence Network in Heidelberg

00:46is unique in the German-speaking world.

00:48It currently supports over 40 families.

00:51The network relies on genome sequencing

00:54with diagnosing rare diseases.

00:56We compare the material with a huge library

01:00with over 20,000 books.

01:02The books give the plan for the body.

01:06What we do with the great genome analysis

01:10is a kind of inventory in this library.

01:13We look at the entire books,

01:15read the text of all books

01:17and see if we find a tip failure

01:20that explains the symptoms.

01:23The costs to identify a rare disease

01:26are in most cases manageable,

01:27but the procedures to deal with it

01:29are often not approved by health insurance,

01:31although it would be a great help for the patients.

01:34Four million people in Germany suffer from rare diseases.

01:38There are 6,000 to 8,000 distinct diseases considered rare.

01:43250 new ones are discovered every year.

01:46The DUP15Q Self-Help Association

01:48pushed the Heidelberg Poly Clinic

01:50to create a competence center for the disease.

01:53Verena Romero founded the association after learning

01:56that her daughter Chiara, who had been suffering severe epileptic seizures,

02:00had DUP15Q Syndrome.

02:02The DUP15Q Syndrome.

02:05When I got the diagnosis of my daughter,

02:08there was no information,

02:11there was no response to it.

02:13For us it was so frustrating

02:14with such a severe epilepsy,

02:16which my daughter had,

02:17that no one knows about it.

02:19And I wanted to ensure that

02:21when this epilepsy comes back,

02:23there is a response to it

02:26and that there are also experts

02:28for the syndrome in Germany.

02:30For clinic director Maya Hempel,

02:32the association is an example

02:34of how treating rare diseases

02:36requires close coordination.

02:39We as doctors and as scientists

02:42have already developed a lot

02:44and developed a lot of projects

02:46and we have developed a lot of european,

02:48which we would have not done without this initialization.

02:50Definitely.

02:52The affected families go through extreme stress,

02:55having to provide round-the-clock care.

02:57For them, the association

02:59and the competence center

03:01are like a second family.

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