Rare Diseases are not so rare anymore! Find out how you can protect your newborns with modern technology.
Rare diseases are not as rare as you think! Thankfully we have a new technology that can help detect them before it’s too late…
‘Rare’ Diseases? I’m sure my child won’t get it!
Rare diseases are more common than you think! These are diseases with likely lifelong lasting issues that affect less than 1 in 1000 people. A lot of these are genetic disorders, resulting from mutations at birth or passed down from the parents. Around 6 to 8% of the population in India are affected by rare diseases. That’s also about the same percentage of the population with seasonal allergies, so think about how many such people you know![5]
I’ve never heard of such a thing before!
There are around 7000 known rare diseases among which 350 affect 80% of the population, i.e. they are not as rare as the others. A few of these you may have heard of like Haemophilia, Thalassemia, Sickle-cell Anaemia, Auto-immune diseases, muscular dystrophy, cystic fibrosis etc. Think about the number of people in your community or family you know who suffer from these…[3]
Since a lot of these are genetic disorders, there is no cure.
…But what if we told you there was a chance?
A new hope
The first 48 hours after the birth of the infant are vital for diagnosing rare genetic diseases, because within this time frame, doctors can start administering Gene Therapy to the infant if there is a chance. The first instance of Gene Therapy was to treat SCID (Severe combined immunodeficiency) four-year-old Ashanthi DeSilva in 1990 and since then, more cures for more well-known rare diseases have been developed such as Roctavin for Haemophilia A. [1]
Four years old? Then what’s the rush?
Gene therapy is quicker and easier in infants due to the presence of stem cells within their body. The longer you wait the less of a chance there is to save them from any genetic disease they may have.
But my child looks perfectly fine to me!
A lot of rare diseases only start to present their symptoms later in your child’s life, like Duchenne’s muscular dystrophy only starts to show when your child is a 3-5 year old toddler. The only way to know for sure is to sign up for New Born Screening (NBS) a few weeks before your due date.
What is NBS?
Newborn Screening tests are diagnostic tests that will comb through your child’s DNA looking for developmental, genetic, and metabolic disorders in the newborn baby. This is to find any mutations in key genes that are known to cause diseases. Mutations can happen randomly in any child, however these mutated genes are often passed down from the parents. Hence, your family history of genetic disease can end with you. If NBS can detect the illness, your child will not have to suffer the way so many before them have. [1]
You may have heard this be called the “heel prick test”. Doctors will collect a spot of blood from your baby’s heel on a sheet of paper and analyze it for diseases. The results will tell you if your child is healthy or has a genetic disease. [2]
Within a day or two of your child being born, doctors do this test to find out if they have any Lifelong Genetic Disorders. This test can detect many rare and painful diseases like Haemophilia, Thalassemia, Sickle-cell Anaemia, Auto-immune diseases, muscular dystrophy, cystic fibrosis and help you start treatment early! NBS and early disease detection has proven to increase infant survival rate to 92.5% and of course improves quality of life in the long run
“If” it can detect, you say?
Modern NBS techniques of the whole genome have a sensitivity rate of 88.8%, which means in cases where there is a presence of disease, it will detect it correctly 88.8% of the time. Research is still progressing and the results are getting better ever so quickly. It’s better to be safe than sorry! NBS and early disease detection has proven to increase infant survival rate to 92.5% and of course improves quality of life in the long run.
Sounds important, where do I sign up?
2-3 weeks before your due date is when you should schedule a Newborn Screening test at your hospital. NBS is unfortunately not prevalent enough all throughout India so it is not offered at most hospitals. Vgenomics provides our NBS services to AIIMS Delhi and more hospitals around the Delhi NCR area, so please urge your doctors to come visit our page!
Your child’s health is our concern. “V” care about you!
Sources:
- Kingsmore, S. F., Smith, L. D., Kunard, C. M., Bainbridge, M., Batalov, S., Benson, W., Blincow, E., Caylor, S., Chambers, C., Del Angel, G., Dimmock, D. P., Ding, Y., Ellsworth, K., Feigenbaum, A., Frise, E., Green, R. C., Guidugli, L., Hall, K. P., Hansen, C., Hobbs, C. A., … Defay, T. (2022). A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases. American journal of human genetics, 109(9), 1605–1619. https://doi.org/10.1016/j.ajhg.2022.08.003
- MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US); [updated Jun 24; cited 2020 Jul 1]. Available from: https://medlineplus.gov/.https://medlineplus.gov/ency/article/007257.htm
- 2024 UPMC Children’s Hospital of Pittsburg
- Government of India NATIONAL POLICY FOR TREATMENT OF RARE DISEASES
- NIH news
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