A little over a year ago, a diagnosis for daughter Amelie turned the life of the Weith family from Schongau upside down.
The little one is ill with Rett Syndrome and has forgotten a lot.
Schongau
- four-year-old Amelie enchants everyone around her with her smile.
"She is a happy and open-minded child," describes Mama Sabine Weith.
“In this way we can often forget the difficulties of everyday life and live in the moment.” Because the little girl has changed a lot in the past two years.
“Everything is just a phase”, Sabine Weith had initially hoped, as Amelie had developed quite normally in the first years of life.
But then she showed the first dropouts and had difficulty communicating.
While she was previously able to put short sentences over her lips without any problems - "Dad, breakfast is ready", for example, her words were soon limited to "water" and "cereal" until she stopped speaking.
She also didn't react anymore, didn't even look at her parents when they talked to her and her walk became more and more insecure, explains Weith.
A doctor at the Social Pediatric Center in Garmisch, from whom the Schongau family sought help after several doctor visits, immediately suspected Rett syndrome.
Rett Syndrome: Random gene mutations cause disease
Rett syndrome is a neurological disorder caused by random mutations in a gene that occurs unpredictably in early childhood.
The development stops at first, then the child loses skills that have already been acquired.
Around 50 children fall ill with the disease in Germany each year.
Although it is the second most common disability in girls, Rett Syndrome is little known to the general public.
Rett Syndrome: Hope for Research
Since then, the Weith family has been in contact with other sufferers, knows about the very different course and deals with forms of therapy - and research.
"Various options for alleviating symptoms and even healing them through gene therapy are currently in the first phase of the clinical study," says Sabine Weith.
It gives hope to the young family.
There is only one sticking point: the research is financed purely through donations.
Amelie is relatively mildly affected by the disease, she says.
Many children develop epilepsy, never learn to speak and can only communicate using a special tablet that can be controlled with the eyes.
Weith reports from a girl friend who can neither stand nor sit, much less walk.
Amelie still manages at least small distances, for example from the front door to the car, on her own.
She has been receiving medicine for her sleep disorder since the clinical diagnosis.
The little girl lay awake for hours early, babbling to herself.
"Other children scream all the time," says Sabine Weith.
But even so, the permanent sleep deprivation naturally affected everyone.
Anxiety and perceptual disorders are also typical of the disease.
Rett Syndrome: Amelie has made progress again
The fact that neither she nor her daughter can make it easy for the other to understand what they want and what not leads to frustration on both sides again and again.
It is true that children with Rett syndrome usually notice what is happening around them.
But there is a lack of "output".
Often the children stabilize after a few years and make small developmental progress.
However, they remain severely restricted in their mental and physical development and depend on help.
Amelie has also made some progress.
She keeps eye contact more often and reacts when you talk to her.
“But there is no comparison to how it was before.” The fact that a lot of things that are slowly and with great effort already worked out so easily, is still a problem for mom.
And also that it is not that easy to keep Amelie busy.
They are not interested in toys.
Just two years ago, the little girl was passionate about painting and creating the most colorful pictures.
But she hadn't had a pen in her hand for a long time.
Perhaps also because she can no longer move her fingers as well, suspects Sabine Weith.
The uninterrupted hand-washing movements typical of the disease are hardly pronounced in Amelie.
"She's more likely to knot her fingers."
Listening to music and leafing through books for a moment, but Amelie continues to enjoy it.
"Going out is always a good idea - regardless of the weather," says mom.
Amelie has also been attending kindergarten since September.
“The team is incredibly committed and flexible.
Amelie has individual support there and a number of great therapists who help and support us very well, ”says Weith.
"A real stroke of luck."
Donate for research
Rett research is funded purely through donations.
Anyone who would like to support the work can find more information on the website www.rett-syndrom-deutschland.de.
The IBAN of the donation account is DE28 200 505 501 385 272727.
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