Dwarfism or stunt growth could be a result of one of the many (almost 300) conditions. It can happen as a result of any sort of mutation or disorder in genes, hormones (deficiency or excess). It can also result from metabolic issues or changes.
There are different forms of dwarfism. They include Achondrogenesis, Diastrophic Dysplasia, Acromesomelic Dysplasia, and Achondroplasia, etc. Achondroplasia is the most common among them all.
This type of dwarfism is a result of a genetic condition, or to be more specific, a faulty mutation in the gene. This genetic condition, as recorded by the scientist, has affected the largest amount of people as compared to the other types of dwarfism. It has been reported to affect 1 individual in every 15,000 to 40,000 individual.
Diagnosis and Treatment
This patients of this disease can be identified even during pregnancy or right after birth. The patient can be detected while the mother is pregnant, via ultrasound. The baby appears to have a very large head (hydrocephalus).
After the baby is born, his abnormality can be detected through his appearance by the doctor. In some cases the doctor suggests some X-Rays to reach the decisive conclusion.
The treatment is possible by stopping the activity of the mutated, faulty gene. The faulty gene damages and harms growth of certain bones in the body. This weakening of these certain bones affects the growth of the individual and causes stunted growth in the individual.
The bones that are affected by the activity of this mutated gene, are the bones in the limbs of the individual, his skull bone gets affected. Moreover, the bone of his spine is also affected in this type of dwarfism (Achondroplasia).
Earlier there was no cure or treatment for Dwarfism, the doctors could only look at the issues arising due to Dwarfism. In severe complications, surgeries were performed.
However, recently a study was published in the New England Journal of Medicine. The study suggests treatment of such patient using, Vosoritide (biological analog). It is injected in the body of the patient, which prohibits or weakens the activity of the affected gene. It blocks the signals controlled by FGFR3, thus it does less harm to the bones.
The treatment is still in the experimental process. 35 children were part of the trial. Adversities occurred in all of them. Severe complications only occurred in 4 of them. While 6 children discontinued the treatment.
On a positive note, the parents of two children named Sam and Tory English (who have tried this treatment) went on record to talk about their experience. Both seem to have a positive outlook on the treatment.
Sam’s mother said that she noticed an increase of 2 inches in the height of his son. Apart from that, his limbs look more proportionate, his posture seems to have improved a lot after the treatment. Their concerns were not only about his height but his healthy life. His parents are happy that their son will be able to live a less medically complicated and healthier life.
The main purpose of this initiative or experiment was to look at the adverse effects of the treatment. They hope that this experiment will take them closer to the treatment. The purpose is not only to help them grow in size but to lead a complete and healthy life.