A couple who lost their son to a rare genetic disease are urging others to take part in the test, saying it could have saved their son’s life.
Priya Pancholi and Abhishek Pancholi, from Leicester, gave birth to their son Aarav in September 2022 after a normal, uneventful pregnancy.
However, he was diagnosed with spinal muscular atrophy (SMA) at six months old and passed away shortly after his first birthday in December 2023.
The Generation Study, currently available at Nottingham University Hospitals (NUH) NHS Trust, tests for more than 200 rare genetic conditions after birth. The treatment is already being offered at University Hospitals of Leicester (UHL) and Derby, as well as at the Burton Trust.
Aarav’s parents said that at the time of his diagnosis, he was too old to receive treatment to slow the progression of the disease.
When he was born, Priya and her partner didn’t know they were carriers of SMA, a disease that doesn’t test for routine blood tests in babies.
She said she first noticed Aarav’s problems when he was about eight weeks old, as he clearly wasn’t gaining weight.
Priya said despite raising her concerns multiple times to her GP, she was told “everything was fine.”
Aarav was able to move his limbs and head at birth, but his condition deteriorated over time. [Supplied]
Eventually, after a referral to a specialist, genetic testing revealed Aarav’s diagnosis.
Priya said her reaction was “absolutely devastated”.
“SMA is a very harsh diagnosis and the outcomes are very poor. My husband and I both work in the medical field, so I think we have a little more insight into what that diagnosis means.
“From a parent’s perspective, as soon as you get a positive pregnancy test, you start dreaming about all the things you want your child to have and experience.
“So while you’re also dealing with this very tough diagnosis, what you’re doing as a parent is grieving the life you thought they were going to have,” she said.
At the time of Aarav’s birth, genetic screening was not being performed at UHL, but Priya believes that if they had done what was done at birth, he would still be alive.
“Due to the late diagnosis, he had lost most of his muscle movement and his respiratory muscles were severely affected at that point. Sadly, that was the big problem,” she said.
Jesy Nelson wants all newborns to be tested for SMA [BBC]
Singer Jesy Nelson is campaigning for all babies to be tested for SMA after it was recently discovered that her seven-month-old daughters have the disease.
She gave birth prematurely to Ocean Jade and Story Monroe Nelson Foster with musician Zion Foster last May.
The former Little Mix star wants all newborns to be tested for SMA after being told her daughters will “probably never walk”.
Dr Neeta Lakhani, consultant clinical geneticist at UHL, said the Leicester hospital will be offering screening from January 2025.
“Families shouldn’t have to suffer.”
Mr. Lakhani supported Mr. Priya during Mr. Aarav’s diagnosis and subsequent death.
He said the trust’s decision to participate in the screening was largely influenced by Aarav.
Priya is also currently supporting the development of research at NUH, which began in December.
“No other family should suffer like my son did. I wouldn’t wish that on anyone,” she said.
The Generation Study is run by Genomics England in partnership with the NHS.
Opt-in screening uses a small blood sample, usually taken from the umbilical cord shortly after birth, to check for more than 200 rare genetic conditions.
This is a long-term study aimed at detecting symptoms early and learning more about genetics and health.
Participation is voluntary, but UHL and NUH officials encourage parents to participate, saying it could save lives.
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