First symptoms of Jack’s vision defects were discovered by his mother when he was eight. Standard testing performed by numerous ophthalmologists have not given any diagnosis except the suggestion of genetic origin of this disease.
Natalie, Jack’s mum, knew how this vision defect would influence his life, because she has also suffered from eye disease. As she had never been diagnosed, she was not even aware that her eye condition was caused by genetics. Natalie was devastated to hear that her son was also affected, furthermore she had two more children to young to display the disease. She’s very determined and decided to find what sort of disease it was and whether it is possible to fight it. After many ophthalmology tests and consultations with specialists, she heard that there was no clear answer. Genetic test focusing on individual genes gave no answer. The “diagnostic odyssey” took 4 years.
Accidentally, Natalie has heard about new diagnostic possibilities – genome testing at MNM Diagnostics. This genome analysis takes advantage of the latest technologies and is the most comprehensive genetic testing available in the world. It gave her hope that MNM could find the reason of Jack’s vision defects.
After sequencing of Natalie’s, her son’s and her parents genomes, the group of specialists from MNM Diagnostics’ team found the answer to Jack’s disease. It turned out that Natalie was unfortunate to acquire de novo (she didn’t inherit the mutation from her parents) single nucleotide change in her DNA responsible for the development of the disease. Natalie and her son had a single nucleotide variant in GUCY2D gene, which is essential for a correct vision. Mutations in this gene cause cone-rod dystrophy described as progressive loss of visual acuity. Critically important, other Natalie’s children are not affected and she is hugely relieved by knowing that. Furthermore, despite there is no treatment available for the disease at the moment, MNM team is monitoring the experimental treatments being developed.
Whole Genome Sequencing (WGS) gives an opportunity to diagnose patients and identify potential therapies adapted to their conditions. Eventually, it can provide the answers that families have been seeking for years. Jack’s family hopes that scientists will find the potential treatment of their genetic variant. Natalie also hopes to connect with other people suffering from the same gene change.