Understanding Prader-Willi syndrome
Prader-Willi syndrome is a rare disease and affects one in every 15000 to 20000 births.
Prader-Willi syndrome is a congenital condition meaning it is present in a child from birth.
Prader-Willi syndrome is caused by the deletion of a gene on chromosome 15. Intellectual disability, behavioral problems, Obesity, low muscle tone, mental impairments, hypogonadism are some of the conditions caused by the syndrome.
Ideally, only the father's copy of this particular gene is active in a child while the mother's copy of the gene remains inactive. However, in rare cases the father's copy of the gene is deleted and the child only gets the inactive copy of the gene from mother resulting in Prader-Willi syndrome.
My son was the first known patient of Prader-Willi syndrome in India fifteen years ago. At the time there was not much awareness in the country about the rare disease. Since then a lot has changed but the level of information about the syndrome in or society is still very low. Social stigma, denial and lack of awareness are major obstacles faced by people with the disease in India. Shikha Methramani President, Founder Member Indian, Prader Willi Syndrome Association.
Some of the symptoms of the syndrome are :
- Delayed mental and physical growth
- Weak muscle tone
- Undescended testicles in baby boys
- Feeding difficulties
- Sleeping problems
- Lack of eye coordination
- Speech problems
Almond-shaped eyes, narrowing head at the temples, thin upper lip, light skin and hair are some physical characteristic found in children affected by Prader-Willi syndrome.
The condition can also cause a constant craving for food and that may lead to child hood obesity. Parents are advised to get their children diagnosed by experts in case any of the signs are observed.
" PWS typically causes low muscle tone, short stature if not treated with growth hormone, cognitive deficits, problem behaviors, chronic feeling of hunger, a metabolism that utilizes drastically fewer calories than normal which can lead to excessive eating and life threatening obesity. Even people above the poverty line cannot afford the treatment, the cost of growth hormones or equipment required in rare disorder and diseases. In fact many of the rare disorders like PWS does not have a treatment available. Unconditional academic, social, medical and financial support from society, educational institutions, hospitality institutions, insurance bodies and government is the least expectations and right of all rare disease and disorder families. We are making our effort to have policies and facilities like other countries to take care of our children. "Anil Choubey, Trustee and co-founder member, Indian Prader-Willi Syndrome Association
Since there is a no cure for the condition at present, early detection and diagnoses can help ease the symptoms.
Depending on the specific symptoms and severity, proper diet, medication and other therapies can be used. Parents need to be careful about their children's diet to avoid them from over eating and obesity.
In most cases. People affected by Prader-Willi syndrome require lifelong care.