Double whammy: Indians suffering from rare diseases now encounter fertility issues

Hyderabad: Rare diseases affect less than 1 in 2,000 people. However, India has around 70 million people affected by rare diseases. Caused by minor genetic changes, chromosomal abnormalities, and other factors, rare diseases can result in impacting the fertility and reproductive health of those affected.

Rare diseases directly or indirectly affect fertility but are generally overlooked, and awareness remains too low.

According to the 2022 report of the Organisation for Rare Diseases India (ORDI), only a few patients with rare diseases are aware of the possible risks to their fertility and the accessibility of the available preservation options. The last day of February is observed as Rare Diseases Day globally.

Diseases affecting fertility

Most of the rare diseases affect fertility by interfering with hormone balance, damaging reproductive organs, or creating genetic complications that affect conception.

Dr Venkata Sujatha Vellanki, regional medical head and fertility specialist at Oasis Fertility, said, “Conditions such as Kallmann syndrome, Turner syndrome, Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, and certain mitochondrial disorders can significantly impact reproductive health. Hence, awareness of proactive and scientific reproductive care is necessary”.

Need for awareness

As per ORDI findings, one in twenty Indians suffers from rare diseases.

In the case of young adults or those who hit puberty who undergo treatment for rare diseases their future ability to conceive naturally may be compromised. This highlights the need for fertility preservation techniques to aid people in protecting their reproductive choices.

“The fertility is affected since most of treatments for rare diseases including chemotherapy, radiation and certain medications can affect reproductive organs by damaging them and depleting the ovarian or testicular reserves. But various scientific advancements in medical technology, especially related reproductive health, offer hope to the individuals to attain their dreams of parenthood through fertility preservation techniques”, Dr Venkata Sujatha added.

This emphasizes the need for patients and healthcare providers to be aware, more knowledgeable, and conscious.

Fertility preservation procedures

With the advancement in medical facilities and the challenges of people affected by rare diseases, numerous procedures are emerging. The preservation procedures enable people to fulfil their aspirations of becoming parents.

Dr Venkata Sujatha listed the following procedures available for preserving fertility in both men and women.

Oocyte cryopreservation (egg freezing) and Sperm cryopreservation (sperm freezing) are used for women to retrieve and freeze eggs and for men, respectively, where it involves retrieving and freezing sperm for future use.

Ovarian tissue cryopreservation is a medical procedure where a portion of the ovary is frozen to preserve fertility, and testicular tissue cryopreservation is for freezing a portion of testicles to preserve fertility.

Dr Venkata Sujatha said, “Fertility preservation has emerged as a key component of reproductive healthcare due to the growing incidence of rare diseases in India and the possible hazards associated with specific treatments”.

Several factors, including lifestyle issues, are affecting fertility rates in India, along with incidences of rare diseases affecting the possibility of obtaining parenthood. The advanced scientific fertility treatments offer hope to people with rare diseases, especially young people, by solving potential obstacles and aiding them in achieving their dreams of parenthood.