Mumbai: Siblings Kayra and Krishiv share more than just their birthday (September 11). They are both thalassemia minors like their parents Khyati and Kunal Modi.
But until four months back. six-year-old Kayra had full-blown thalassemia hat required frequent blood transfusions and multiple hospital trips. What changed her status (thalassemia minors are mere carriers who never suffer from the disorder) is a high-tech process called pre-implantation genetic diagnosis (PGD) that started before Krishiv’s birth to ensure he didn’t carry the faulty thalassemia major genes Kayra was born with. It culminated with two-year-old Krishiv donating a part of his bone marrow for Kayra around their birthdays in September, thus fulfilling his parents’ dream of being Kayra’s ‘Saviour Sibling’.
A week back (on December 23), the Modi family landed in Mumbai after spending four months in Vellore where the transplant was performed. “Both the children are well,” said Kunal, an accountant who lives in Parel. “Using PGD, we converted a serious disease into a mere carrier status,” said infertility specialist Dr Firuza Parikh.
The Modis were unaware about their thalassemia minor status when they got married. “It was only when Kayra was 11 months old that we realised something was wrong with her frequent coughs, colds and fever,” said Kunal. They heard about thalassemia for the first time when the public hospital they had taken Kayra to in 2017 gave the diagnosis.
The father spoke to multiple doctors when Kayra went for her fortnightly blood transfusions. “I realised that Kayra needed a bone marrow transplant to be cured, and we had three options,” he said.
WHAT IS PGD
Pre-Implantation genetic diagnosis (PGD) is a laboratory procedure performed along with in vitro fertilization (IVF)) to reduce the risk of passing on inherited conditions
Most couples who seek PGD are not infertile but take up both PGD and IVF to reduce the risk of having another child with health issues or early death
The idea is to have a child who can provide matching stem cells to the older child, thereby curing the disease
Such children are termed as ‘Saviour Siblings’
Saviour Siblings are OR conceived in order to provide a stem cell transplant to a sibling affected by a chronic/fatal disease such as thalassaemia or cancer that can be treated by stem cell transplantation
PGD can be done for genetic conditions in which the exact mutation is known
However, each couple will need to have a customised test. It’s hence timeconsuming
Using IVF (where fertilization is done outside the body in an artificial environment), multiple eggs are matured and retrieved from the mother
The egg cells are inseminated with a single sperm using intracytoplasmic sperm injection. The resulting embryos are then biopsied
The isolated cells are evaluated for specific HOW genetic conditions (using special tests)
Only embryos not carrying the defective gene or proteins are transferred to the woman’s uterus
EXPENSIVE, TIME-CONSUMING
PGD is time-consuming and costly (adding between 2L and 74L) to the IVF procedure, but it has emerged in recent times as a way to save children from life-threatening diseases
There is an ethical debate over Saviour Siblings because the donor child is usually 2 years old and unaware of the procedure
The first option was for a parent to donate (“but we were not good matches”), while the second one was to get an unrelated donor. “The third option of Saviour Sibling was a civic doctor’s suggestion,” he said.
Saviour Siblings are common in US as compared to Inare conceived dia; kids through IVF plus PGD to provide stem cell transplant for their ill, older sibling.
Kunal met Dr Parikh and they started preparing special probes needed to test the embryos for the mutations. “My wife underwent three IVF cycles in the span of a year, and we had 16 embryos,” said Kunal. But only one of the 16 embryos had no thalassemia major gene and was a perfect HLA match for Kayra. “The whole process has to be precise to ensure that the sibling is the best match,” said Dr Parikh.
Infertility expert and FOGSI president-elect Dr Hrishikesh Pai said PGD is an accepted treatment norm when a couple has an existing child with a genetic abnormality. However, a senior doctor said the TVF plus PGD’ option is used sporadically in India given the high costs. “The biopsy of each embryo and genetic tests could cost up to Rs 40,000,” said the doctor. Each IVF cycle costs between Rs 1 and 3 lakh.
The Modis put in their life from savings, borrowed friends and others to raise Rs 13 lakh needed for three cycles of IVF and PGD. “This was a discounted rate,” he said, adding that they spent another Rs 13 lakh for the bone marrow transplant at CMC Vellore.
Dr Parikh has a different take: Kids with thalassemia have to undergo regular blood transfusion and chelation to remove iron overload from their body. “Hospitalisations not only take a toll on the child, but also on parents. Moreover, estimates suggest families spend about Rs 1 crore over years,” she said. ecstatic.
The Modis are “We had 16 embryos, but only one match. Only one embryo was implanted in my wife’s womb and we had a pregnancy that is rare in IVE Even the bone marrow transplant, though painful for my daughter, was successful,” he said.
