Rare diseases are not Rare!!!

Category : Healthcare

When the baby is born, the first thing people say is he/she has a close resemblance to father or mother.

Rare Genetic Disease:

The RARE genetic disease comprises approximately 7,000 different diseases affecting more than 300 million people worldwide. In the world, every minute, ten children are born with rare genetic diseases.

Why does this happen?

• The chances of having such problems increase if the marriages happen within blood relations. It is the main reason for having more such diseases in Karnataka and Telangana /Andra Pradesh where relative marriages are highest. However, distant unrelated marriages are not exempted from having these diseases. 
• These can also happen when there is a defect in a single gene, chromosome, or derangement of harmony between genes & environment. Even common diseases like heart disease, asthma, cancer, and diabetes can run in families (but not considered to be rare diseases).
• Many of these diseases though not present in anyone in the family can suddenly appear in the newborn baby without any explanation.

Can we cure if diagnosed with genetic diseases?

• Only a few diseases can be cured by bone marrow transplantation or medicines.
• Most of the diseases do not have any cure. For the affected people provisions can be made to provide a better quality of survival till they are alive. Many disease support groups are available which extend their help in giving a better life to patients and their families.
• However, a lot of research is underway to find a cure. That could become a reality for many of these diseases in the next 10 years.
• Some genetic diseases of protein, fat & carbohydrate metabolism if diagnosed in time and treated, serious effects like death, brain damage, mental retardation can be prevented.

When should an individual/family approach a genetic counselor?

• In case of unexplained infertility (inability to have children)
• Women in her 30’s or more is planning a pregnancy or is already pregnant.
• Couples with recurrent abortions and all common causes are ruled out.
• When the baby in womb is suspected to have abnormality detected while scanning
• If a baby is born with defects present since birth ex: hole n heart, brain defects, hand & leg abnormalities etc.
• If previous baby or any of the closest family member is suffering from hereditary disease
• If the new-born child is admitted to intensive care unit with the conditions having hereditary causes like convulsions, not feeding, significantly losing weight and jaundice has not come down.
• If a person has been diagnosed with cancer at an early age and more than 3 family members nearest relatives have cancers
• Any family member is having a hereditary condition and now wants to know if his or her child has chance of getting that disease.
• If a child is born with mental retardation, deafness, and blindness since birth.

The main use of genetic counselling shall be preventing the birth of next affected child.

After detecting the disease, individuals or families will be given disease information, supportive counselling, risk assessment and/or referral to suitable health care service.

Genetic counselling centre was established at JSS Hospital in 2017. Since then, the centre has been successful in counselling around 750 families till date and has offered services to families approaching with suspected genetic cause. Karyotyping, biochemical testing and various cytogenetic, and molecular genetic investigations are offered at JSS Hospital to diagnose these conditions. JSS Hospital in Association with Organisation for Rare Disease of India (ORDI) has establishes a unique centre (Rare Disease Care Coordination Centre) to provide holistic care to affected and their families.

Author is available for consultation at, Genetic Counselling Clinic, Department of Paediatrics, JSS Hospital on Monday and Thursday afternoon.