As you will understand from my initial post, Edith has no formal diagnosis. We know that the issue lies within the white and grey matter of her brain, but we still don’t know what caused the brain to develop in such a way. Since Edith was born we have seen a number of different doctors at the hospital specialising in neurological, genetic and metabolic disorders and no one can seem to find an answer. Edith has had various tests for various disorders, all of which have come back negative. At the end of 2015 she had a skin and muscle biopsy to try and determine if the problem was within the muscle structure, obviously this was also negative and we now know Edith’s difficulties are due to her brain malformation. The doctors believe there are issues with the way Edith’s brain communicates with her muscles and that’s why she is hypotonic (floppy) and slow to process and learn. We always said that Edith was a really strong child at times and considering how weak she was this didn’t make any sense, we now know it is due to the breakdown in communication between the brain and the muscles.
At the beginning of 2016 we were made aware, by Edith’s Geneticist and Neurologist, that Genomics England, a company wholly owned and funded by the Department of Health, were sequencing 100,000 genomes of NHS patients (and their immediate families) in the hope to provide a diagnosis for some patients with rare diseases. The project will also focus on gathering information to help understand the genome of rarer cancer tumours and adapt cancer treatment accordingly, develop a genomic medicine service for the NHS and support clinicians, researchers and companies (any size) to develop new diagnostic tests and medicines. For those of you that don’t know, the genome is all of the genetic information stored in the body’s instruction manual and recent developments in science now mean as well as sequencing panels of genes, they can now sequence an entire genome (Wow, I know!). Edith was an ideal candidate for the project as it is likely that the way her brain developed was because of a genetic problem.
To try and find an answer, they would look at the entire genome of Edith, myself and Dan. In August last year we were invited to a meeting with Amy, one of the medical professionals involved with Genomics England to discuss the process, what was involved and what was necessary. We were told that they would take a blood sample from each of us and through process of elimination, they would try and find an answer as to what makes Edith, Edith. They have advised us that they may not be able to find an answer for us but the blood we have given will be used to provide information for invaluable research and even help future families. If we don’t get an answer in the near future, this doesn’t mean we never will as the project is working to develop new tests all the time.
As part of the project we were offered to have raised, any additional findings. This meant that if the project were to find anything that is relevant to the future health of Edith, Dan or I we could be informed. The additional findings process is a difficult one to explain or delve into as it’s so extensive. The further the project develops and the more patients they recruit the further their knowledge of sequencing and understanding the genome will expand. This means that the additional findings they are looking for initially may be added too as the project grows.
This project is colossal and we are so fortunate to be part of such a major breakthrough in understanding the genome. Although we may never get an answer, we will be safe in the knowledge that another family out there facing the same as we do, may well get theirs!