Thousands of people received diagnosis after 60 new diseases were found

Thousands of children with severe developmental disorders have been ultimately diagnosed, thanks to a study that identified sixty new diseases. The genetic code or DNA of children and their parents was examined to find answers about their condition. There are thousands of distinct genetic conditions. A diagnosis can lead to improved care, assist parents in deciding whether to have more children or simply explain why this is occurring. Individually, the disorders are uncommon but collectively they affect 1 in 17 individuals in the United Kingdom.

The NHS, universities and the Sanger Institute, which specializes in DNA analysis, worked together for 10 years to conduct the Deciphering Developmental Disorders study in the United Kingdom and Ireland. The findings included the discovery of Turnpenny-Fry syndrome. It is caused by an error in a single genetic instruction in our DNA and results in learning disabilities. It also hinders development, resulting in a broad cranium and sparse hair. 

Mongo Fisher, the son of Jessica Fisher who participated in the study, was diagnosed with the syndrome. He was one of the only two individuals in the world diagnosed with it at the time. Jessica recounts that the physical similarities between Mungo and the Australian child were so striking that the Australian child “could have been his sibling.”

Subsequently, Jessica established an online support group, which now comprised 36 families from countries such as the United States, Croatia, Brazil and Indonesia. She stated that it's devastating to learn that your child could have a rare genetic disorder, however, receiving the diagnosis has been crucial in bringing them closer together.

The study analyzed the genetic code of 13.500 families with enigmatic disorders and diagnosed 5.500 of them. The results, which were published in the New England Journal of Medicine, indicated that sixty of the maladies were novel conditions. The majority of errors had occurred spontaneously at conception, as opposed to being inherited. 

Prod. Caroline Wright from the University of Exeter told sources that they were able to identify the new genetic conditions, which means that not only the participants in the study but also future generations, will benefit greatly. Obtaining a genetic diagnosis is crucial for families. It enables them to communicate with other families who may be affected by the same condition, with the intention of achieving a more individualized approach to management and ultimately treatment. Approximately one-fourth of the children in the study had their treatment modified after a definitive diagnosis was made.

This type of genetic analysis is becoming increasingly commonplace in NHS care. Sofia Brogden, the infant daughter of Dasha Brogden, was diagnosed with Turnpenny-Fry syndrome one month after her birth due to the discovery of this condition. Her diagnosis alerted everyone to the likelihood of her heart condition and a scan led to Sofia’s two-month-old surgery. She is now nearly three years old. 

Dasha from Oxfordshire stated, “Receiving a diagnosis helped us tremendously to understand what to expect. We were fortunate compared to families who arrived before an official diagnosis was made.”