Sebastian Gollnow/dpa
A rare genetic defect confined Noah to his bed for the first few months of his life. Doctors had already given up on him – until an unusual diagnosis and a Parkinson’s drug changed everything.
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Noah was born with a rare genetic disorder that went undetected in newborn screening.It was only in Heidelberg that doctors found the cause: a defect in dopamine production.Thanks to early treatment with a Parkinson’s drug, he was able to catch up on his development.
When Noah was born, everything initially proceeded normally. But while his peers begin to sit up, he can do little more than lie motionless on his back.
What nobody suspects at this point is that Noah suffers from a rare genetic defect. Actually, it should have been possible to detect this shortly after birth – because in Germany, every newborn is screened with the parents’ consent, as “focus” writes.
The blood is examined for abnormalities that could indicate certain diseases. In Noah’s case, however, everything remained within the normal range. His particular form of the disease cannot be detected in the blood; it would only have been detectable through a comprehensive genetic analysis – a method that was not yet available at the time.
Twenty years ago, the analysis of the human genome was still in its infancy. Today, newborns could theoretically be screened for a variety of treatable diseases – and treatment would often begin in the first days of life.
Family moved for health
For Noah, however, this possibility came too soon, writes “focus”. His future life depended on doctors and parents finding the right track at the right time – a lucky coincidence ultimately decided his future.
Doctors predicted to the parents that their son would not develop. The young mother’s world collapsed – until a doctor recommended that she contact a specialist in Heidelberg. The family received an appointment – but not until August 2003, in December 2002.
If the family lived nearby, it would be quicker, the clinic told her. So Noah’s father got into the car and drove from Bielefeld to the Rhine-Neckar region in Germany. With several hundred euros in cash for the rental deposit, he finds an apartment there. Shortly afterwards, the young couple packed up their lives in North Rhine-Westphalia and moved to Baden-Württemberg – closer to the clinic, closer to the hope of help for their child.
In 2003, the search for the cause finally begins. Only a spinal cord examination provided any clues: Noah suffers from an extremely rare disorder of dopamine formation in the brain, a type of infantile Parkinsonism, reports “focus”. Without treatment, development would have been impossible.
Rare disorder of dopamine formation in the brain
The dopamine deficiency could have many causes – in Noah’s case, an extremely rare disorder of dopamine formation in the brain is behind it. The disease belongs to the group of infantile parkinsonism: due to a genetic enzyme disorder, the affected nerve cells are unable to produce dopamine from the outset. In contrast to Parkinson’s in adults, these cells do not even develop their actual function.
The physicians dared to experiment with a drug used in Parkinson’s therapy for adults. One evening in the summer of 2003, the child was given a dopamine tablet. The next morning, the unexpected happens: Noah consciously moves his arms for the first time. From then on, he made up for lost time step by step.
Today, Noah is 22 years old. Three years ago, he graduated from high school and is now a student. He has to take medication every day, but describes himself as a “completely normal person”. This was only possible because his parents didn’t give up – and a coincidence led them to the right doctor.