Policies for management of rare diseases and their treatment a must in India

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Policies for management of rare diseases and their treatment a must in India

Medication for diseases such as spinal muscular atrophy must be covered under insurance

New Delhi, 17 July 2018: As per a new study, children with spinal muscular atrophy (SMA) can achieve improvements in motor function after six months of treatment with the drug Nusinersen, particularly if treatment began before seven months of age. Early diagnosis and initiation of treatment are fundamental for patients with infantile-onset spinal muscular atrophy highlighting the importance of the implementation of a newborn screening.

SMA is a genetic disease that affects motor neurons in the spinal cord, resulting in muscle atrophy and widespread weakness that eventually impairs swallowing and breathing. The incidence of SMA is between 1 in 6000 to 1 in 10,000 live births with a carrier frequency of 1 in 50 all over the world.

Speaking about this, Padma Shri Awardee, Dr K K Aggarwal, President, HCFI, said, “SMA can be categorized into four types depending on the age of onset, mode of inheritance, distribution of muscle weakness and progression of symptoms. In India, there are families whose children are suffering from this progressive disease. Due to SMA, children cannot walk, and, the nightmare does not end here as it is a progressive degenerative disease which means the kids may potentially see deterioration in function of their other limbs – hands, spines and even lungs. The drug Nusinersen has not yet been launched in India. However, even to be made available, the estimated cost is more than $100,000 per year. No health insurance company in India covers such disease or costs. It is imperative that the health ministry allocates a separate budget for rare drugs and treatment of rare diseases.”

In all its forms, the primary feature of SMA is muscle weakness, accompanied by atrophy of muscle. This is the result of denervation, or loss of the signal to contract, that is transmitted from the spinal cord.

Adding further, Dr Aggarwal, who is also the Group Editor of IJCP, said, “There is no cure for SMA. However, assistive technology such as ventilators, power wheelchairs, and modified access to computers is helping individuals with this condition to live longer, be more active, and participate in the community. What is of utmost significance for those with SMA is ventilation. The severity of the individual’s weakness directly affects the course of the disease.”

Some tips from HCFI

  • Exercises and stretches can help maintain strength and stop joints becoming stiff in children with SMA. Although the amount of exercise will depend on the condition, it’s best to try and stay as active as possible.
  • There are activities/exercises that can be done to strengthen the breathing muscles and make coughing easier.
  • It is important for people with SMA, especially children, to get the right nutrients. This will help with healthy growth and development. A dietitian can offer advice about feeding and diet.

Genetic counselling and testing should be given a serious push in the country

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This practice can help save many children from dying and prevent birth defects

New Delhi, 16 July 2018: Hundreds of children are born with birth defects every day in India, which lead to disability and death. Genetic disorders are a very serious health issue in our country. There is an urgent need to work towards making available informed choices to parents to reduce the number of children being born with disability.

In genetic counselling, unlike psychological counselling, parents and their families are informed about inheritance pattern and the risk of their recurrence. It guides the parents through testing and management options. Genetic counsellors not only offer support and guidance to parents but also become a bridge between the patient and the doctor.

Speaking about this, Padma Shri Awardee, Dr K K Aggarwal, President, HCFI, said, “A genetic testing is a must in cases where: either partner has a hereditary disorder, there is a history of genetic disorder in the family, a history of multiple pregnancy losses, or there are congenital anomalies detected in children. Many women are opting for delayed pregnancies and lifestyles, and with the prevalence of consanguinity in certain parts of the country, there is an elevated risk of children being born with genetic disorders in India. India is country where matching horoscopes before marriage is accorded a lot of importance. However, it is time that pre-nuptial genetic screening or testing and counselling is also made mandatory as it will help avert many issues later during pregnancy and childbirth.”

As per data from Unicef-India, every year about 1.34 million children die under five years and, of these, approximately 10% are believed to be due to congenital malformations. Among those born with congenital malformations, more than half are due to defects in single genes while >10% are because of chromosomal abnormalities.

Adding further, Dr Aggarwal, who is also the Group Editor of IJCP, said, “Prenatal Genetic Testing, which is primarily non-invasive, helps in identifying three types of trisomies: Trisomy 21 is the anomaly behind Down’s Syndrome; Trisomy 13, which leads to Patau Syndrome; and Trisomy 18, which causes Edward Syndrome. With the alarming number of children being born with genetic abnormalities, it is about time that India embraces NGS routine genetic testing. It is a comprehensive test and can detect all types of genetic mutations and is accurate, fast and cost-effective at the same time.”

Some tips from HCFI

  • Be aware of the products you use in your home and on your skin.  For example, cleaning products with harsh chemicals.
  • Eat healthy and include lots of fresh fruits and vegetables in your diet. They contain fibre and substances that can help in flushing toxins out of your system.
  • Take steps to combat stress as this lowers your immune system function.  Exercise, sleep well, and meditate. You can also opt for yoga to get rid of stress.
  • Sleep well as it reduces cortisol produced by the body during stress.  It also balances leptin, which determines how much food we eat.  If our leptin is off balance, most likely the body will feel that it never gets enough food, which leads to overeating.
  • Reduce or quit smoking and drinking.

Thyroid disorders can be hereditary and affect many Indians today

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Autoimmune disorders are more common in women than men

New Delhi,15 July 2018: Nearly every third Indian suffers from some thyroid disorder, which most often causes weight gain and hormonal imbalances, and is more commonly seen in women, as per a study. Sub -clinical hypothyroidism, a milder form of hypothyroidism where the diagnosis is made unexpectedly, is the most prevalent form of thyroid disorder across the country with maximum cases being present in the eastern
part of the country.

Thyroid disorders are eight to ten times more common in women than in men. This is mainly because most of the times, they are autoimmune problems are all autoimmune disorders are more common in women.

Speaking about this, Padma Shri Awardee, Dr K K Aggarwal, President, HCFI, said, “The thyroid hormones are essential for normal functioning of organs. Any imbalance in these can lead to a deterioration in the quality of life. There are two kinds of thyroid disorders predominantly: hyperthyroidism which can further cause atrial fibrillation, osteoporosis and fractures; and hypothyroidism which can cause Myxedema coma and death. The most common cause of thyroid problems today is Autoimmune Thyroid Disease (AITD). This is a hereditary condition where the immune system produces antibodies which either stimulate the thyroid glands to overproduce hormones or leads to
destruction of glands that can cause underproduction of thyroid hormones.”

Symptoms of hyperthyroidism include weight loss, heat intolerance, poor sleep, thirst, excessive sweating, hand tremors, frequent bowel movements, racing of heart, weakness, anxiety, and insomnia. In hypothyroidism, an individual experiences weight gain on the face, lethargy, fatigue, constipation, slow heart rate, sensitivity to cold, dry skin, dull hair,
irregular periods, and infertility.

Adding further, Dr Aggarwal, who is also the Group Editor of IJCP, said, “A CT scan or ultrasound can detect thyroid nodules present with swelling on the lower side of front of neck. A growing neck mass can also indicate thyroid cancer along with difficulty while swallowing or change in voice.”

Some tips from HCFI

- Hypothyroidism is linked to weight gain. Thus, a person with this condition can find it difficult to lose weight. Consume a diet rich in fibre and low in fat to maintain a healthy weight.
- Although it may be difficult to get moving in those with a sluggish thyroid, it is a good idea to push yourself to do some physical activity.
- Stress is known to exacerbate thyroid disorders. Do something to reduce those stress levels. It could be yoga, meditation, dance, or anything.
- Know the symptoms Understand what the common symptoms of thyroid cancer are.
- Get Tested Have your GP check for nodules and test TSH levels every few years if you have risk factors for cancer.

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