Noonan syndrome occurs as a result of a genetic alteration which causes abnormal development of many parts of the body. It is a genetic disorder and is one of the very rare diseases. (1,2)
Is Noonan Syndrome A Serious Condition?
Noonan syndrome is a genetic condition and thus cannot be cured. As a result, the existence of this condition can pose many life-threatening conditions, especially since the heart conditions are involved. In many cases, the mortality rate maybe three times as much as for those without the syndrome. However, most people still may be able to attain adulthood and lead long, normal lives, if Noonan syndrome is diagnosed and treatment started as early as possible.
Can Noonan Syndrome Be Reversed?
Noonan syndrome cannot be reversed or cured. It is a genetic defect and genes cannot be corrected by any treatment method. This condition can, however, be managed and the symptoms improved with the help pf proper diagnosis and treatment, thus improving the quality of life.
There is no way in which we can cure or reverse Noonan syndrome, as changes made to the gene cannot be altered. However, with some treatment methods, the effects caused by this condition can be lessened. Early diagnosis and an early start of the treatment can result in the better prognosis of the disease.
The treatment approach is multifaceted and generally depends upon the complications and the severity of the condition. This may be different in different people and hence, the treatment approach is quite individually tailored. Some of the treatment approaches may include- (3,4)
Treatment-Related To Heart Conditions- Some medicines are beneficial in the treatment of some types of heart problems. Surgery may be required in some cases. You may also need to visit your doctor at regular intervals suggested by him.
Treatment Of Poor Growth- Till a child reaches three years of age, height is to be measured three times in one year. After that, height is to be measured once every year until the child reaches adulthood. This ensures that the child is growing properly. To ensure that the child is getting proper nutrition, the doctor may recommend blood tests from time to time. If according to these tests it seems that the child’s growth is not as it should be, the doctor may suggest the use of growth hormone as a treatment option
Treatment For Learning Difficulties- Children affected by Noonan syndrome may have learning difficulties due to various reasons, like eye and ear problems, etc. they may have speech problems. Speech therapy or physical therapy may be needed according to the problems faced by the kid. Special teaching and education techniques may be needed in some cases
Treatment For Kidney And Genital Issues- Kidney problems may be seen in many Noonan affected people. It is essential to ensure kidney health by taking proper measures as suggested by your doctor. In the case of males, if the testicles haven’t descended properly, it may need surgical intervention.
Treatment For Other Problems Like Bruising, Bleeding And Lymphatic Issues- Kids with Noonan syndrome have a tendency to bleed or get bruised easily. The reason may be clotting related issues or a very low platelet count. They also tend to collect excess fluids around their organs in their systems. This may pose a problem if fluid gets collected near the heart or lungs. (3,4)
Noonan syndrome is a genetic disorder, which is caused due to alterations in genes. It is a non-reversible or incurable condition and can lead to serious complications like heart defects in many people. However, with early diagnosis and prompt treatment, most people with Noonan’s syndrome can manage to live a healthy life and lessen their symptoms, thus improving their quality of life.