Dr Catherine Mutinda, the first female pediatric geneticist in Kenya and also the Secretary General of the Kenya Paediatric Association, believes that it is not a sad thing to be told you have a mutated gene but it is a sad thing to be told late.
This conviction led her to the journey of becoming a paediatric geneticist, to be able to rule out certain diseases from an early age.
A geneticist is a medically trained doctor who specialises in diagnosing and managing patients with genomic conditions while a paediatric geneticist will diagnose and manage genetic conditions in children either before or after birth. They recommend and interpret genetic testing and give families more information about the child's health condition and also recommend appropriate treatment and coordinate care.
Some of the diseases that can be detected through genetics are Down syndrome, Spina bifida, Sickle cell, Turner syndrome and albinism among others.
Dr Mutinda is a firm believer in bedside medicine and public health and, although it took a while to become a geneticist, she knew that this was what she wanted for her patients.
Her journey began at The Charles University Prague in Czech at the heart of Europe where she studied medicine under a Czech Republic-Kenyan Government scholarship.
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After her final exam there, she came back to Kenya where she was posted as an intern at Moi Teaching and Referral Hospital in Eldoret, which was after sitting for an exam here in Kenya as is the norm.
It was during her internship that she realised that newborns in Kenya do not go through newborn screening.
"Newborn screening is something that should be done for most of these common diseases such as sickle cell which can be detected early in life," Dr Mutinda says.
She was posted to North Kinangop Hospital and her love for paediatrics took her to the paediatric ward. This same passion later took her to Pumwani Hospital where she began to think deeply about genetics.
Despite the motivation and the passion that she had for genetics, it was not an easy decision to make but, with the support from her mentors and family, she took the great leap of faith into paediatric genetics. She wanted to give a turning point to mothers who had several pregnancy losses but had been left with unanswered questions.
"That baby that everyone looks at and they say they feel something is wrong but they cannot quite put finger on why he is not okay... we analyse and formulate a test for them and then give it a name, say, Down syndrome, then it becomes clear that the patient needs to see an endocrinologist or cardiologist," she says.
Dr Mutinda hopes to change the narrative of Kenyan children and parents who go through painful experiences just to get a diagnosis.
Part of what she does at the Kenya Pediatric Association is to advertise the specialists in Kenya so that people do not look for specialised care outside the country. She has also been in talks with the Ministry of Health to ensure that diagnostics are available, accessible and affordable in Kenya through the NHIF.
This means if a child has been diagnosed with a particular disease, say Down syndrome, then the parents can plan for their care, and won't have to rush to the hospital when they have cardiac arrest or other complications because this can be detected through genetics when the child is born.
"We can change the way we look at newborn screening, it will just be like what we do for children born to mothers who are sero-exposed by putting a bloodspot on filter paper and then sending it for a PCR check-up, but for this one, we take a bloodspot and we do a biochemical exam."