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Magda plans to have a baby in the near future. However, she has a well-founded fear – her partner’s sister was born with a genetic disease, Moebius syndrome. The woman is afraid that her child will inherit the disease. The husband’s older brother and his wife have two healthy children. A woman wonders what is the probability of having a sick child in her case? Is the risk high? Are there studies showing the likelihood of developing the disease?
- Moebius Syndrome is a genetic disease that currently cannot be detected during pregnancy
- The disease does not always affect human functioning – sometimes it is limited to the lack of facial expressions
- Adults with Moebius syndrome are very often perceived as withdrawn or self-righteous, emotionless or less intelligent
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The main thing is to stay calm
Magda’s anxiety is obvious. Unfortunately there are no tests to detect Moebius syndrome during pregnancy. Genetic clinics also dissociate themselves from research in this area, possibly suggesting research units that may be dealing with the problem. Moebius syndrome should not be an indication for a possible abortion – this disease does not always affect human functioning. Sometimes the impairment is limited to the lack of facial expressions.
Attempts to restore health to the sick are already underway in Poland. The precursor in our country is prof. Peter Neligan – he performed a successful reconstruction of the facial nerve in Gdańsk in two children. Two very difficult microsurgical operations lasted nine hours each. He has already managed to make other teenagers smile and healthy again. The professor operates in Gdańsk Copernicus Hospital together with a high-class surgeon, Dr. Dariusz Wyrzykowski. In Poland, there is a shortage of doctors specializing in this disease.
stone face
Moebius syndrome was defined at the Moebius Foundation research conference in 2007. Over the years, scientists have described the disease in several families. Congenital non-progressive paralysis of the face and ears it was first described by Graefe (1880) and Moebius (1888). Congenital palsy of the sixth and seventh cranial nerves have been observed in many family members of Wilbrand and Saenger (1921).
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Statistics report that the disease may affect from 1: 50 to 000: 1 newborns. Mild forms of the disease are sometimes underdiagnosed throughout the patient’s life.
The disease is genetic. They include a number of neurological disorders. First of all, facial expressions are disturbed – people with this disease do not use the facial muscles, do not move their eyes, do not squint, do not frown. The cause of the disease lies in two incompletely developed cranial nerves. Many of the other twelve nerves may also be damaged, including nerves 3, 5, 8, 9, 11, and 12.
The first symptom that a parent should worry about is the child’s inability to suckle. The other worrying syndromes are slanting eyes, deformation of the tongue and jaw. The eyes of a person with Moebius are usually oversensitive – sunglasses must be worn.
The disease is as common in men as it is in women, and there is no possibility of its causal treatment. The symptoms of the disease can be eliminated by surgical operations. Sometimes patients are mentally retarded.
In Poland, this disease is treated by the Institute of Mother and Child in Warsaw. The life expectancy of a human with Moebius does not differ significantly from that of a healthy human. 30 percent patients show signs of autism, and 10-15 percent. – intellectual disability.
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Where did this Moebius come from?
There are no unequivocal claims as to what is the basis of the disease. The most widespread theory is that the cranial nerves are underdeveloped, which results in a disturbance in the formation of the subclavian arteries that supply the brain with blood. Environmental factors are also important – the mother’s consumption of drugs and alcohol during pregnancy. Any form of the drug called benzodiazepines can also be an influencing factor.
I’m not a fool
Adults with Moebius syndrome are very often perceived, due to the lack of facial expressions, as withdrawn or self-righteous, deprived of emotions. Sometimes they are attributed with a lowered IQ. But the unpleasant ailment is not only the inability to move the eyeballs or convergent strabismus. In more severe cases, the disease is associated with autism, hearing problems, impaired speech development, impaired motor development and, finally, dental problems. In addition, there are also dysmorphic features, such as: oblique eyes, deformed tongue, small jaw and mouth, cleft palate, deformation of fingers and toes (fused or missing). Therefore, it is not easy for a sick person to function socially and professionally.
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Treatment: knowledge and perseverance
It is also sad that causal treatment of the disease is not possible. Therapy helps in every phase – it is very important that the patient’s family has an attitude towards the problem, as well as optimism that should accompany the person affected directly by the disease. Some of the defects caused by Moebius can be corrected surgically – knowledge, invention, money and persistence are needed. The patient awaits interdisciplinary treatment and numerous trips – to neurologists, speech therapists and dentists. Each of us can contribute to the health of the injured person – by showing acceptance and understanding.
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