At the end of last year I began another bit of “Dr Googling” after speaking with a mum about her daughters diagnosis of Rett syndrome. I noticed that Edith mildly embodied some of the characteristics or symptoms and began to question if she had ever been tested. Rett syndrome is most common in females and is rarely seen in males and the severity varies from child to child. Naturally, after googling one syndrome I was led onto several others via common symptoms and links etc. It was at that point I came across ‘Angelman Syndrome’ and again Edith mildly embodied some of the characteristics and symptoms. After a few weeks of wondering I decided to give Edith’s geneticist a call to discuss my thoughts in more detail. I wanted to know if Edith had been tested for these syndromes and if she hadn’t, if she could be. The gene associated with Rett Syndrome is the MECP2 gene and it turned out that 92% of that gene had been tested for Edith, this meant that although not absolutely comprehensive, it would suggest that any changes in the gene would have already been found. As for the Angelmans, it was tested for but not in the usual way so the geneticist informed me that she would order for this to be done. She confirmed our conversation in writing and with the letter she enclosed a list of syndromes that Edith has been tested for. Before they started the 100,000 Genome Project, genes were (and still are) tested in panels. A gene panel, I think, is a select set of genes that have known associations with a disease or phenotype (observable characteristics).
This list is for the Epilepsy gene panel…
This is just one of the many panels that Edith has been tested for.
Fast forward to February 8th 2018; four days before Edith 4th birthday. I came home to a pile of mail on the door mat and as usual, stepped over it in my desperation to put ever-growing Edith down. After making her comfortable I collected the mail and began to sift through and came across a hospital letter. As I tore open the envelope I immediately noticed the department; Clinical Genetics. I turned to my mum, my heart beating so fast and I said “its from genetics, this could be a diagnosis!!”. Part of me wanted to put it back in the envelope but, assuming it was from the project, I equally knew it could say that nothing had been found. I didn’t even think about it being from my phone call and as I began to read it became evident that it was and that something had been found.
To quote the letter;
“The laboratory have found a suggestion of a slight abnormality at the Angleman Syndrome location on chromosome 15 in Edith’s sample. However, the report says the significance is unclear and they would like to have a repeat sample so that we can check this again. I have arranged to see Edith in my clinic quite soon and I will explain what has been found and take another sample at that time”
I was a bit floored at first. This was totally not what I was expecting to read. A million thoughts and questions ran through my head and at that moment I knew I had to call Edith’s dad. We discussed the findings in detail and imagined what it would be like to finally have a diagnosis for our baby girl. Since Edith was born this is the closest we have ever been to an answer and it felt almost bitter sweet. Without a diagnosis you can almost live in blissful ignorance not knowing what the future may hold, you never imagine it being easy but there is hope that it will bring more victories than challenges. With a diagnosis everything may look that little bit bleaker. Since receiving the letter I have come to realise, at this moment in time, it doesn’t make a huge amount of difference as variations of syndromes can be so vast. If Edith does have Angelman syndrome then the words in the letter “suggestion of a slight abnormality” would lead me to believe that if the change is only slight then the effect may only be mild. This may be true or it may be wishful thinking, either way only time will tell.
Yesterday we received Edith’s appointment; 9th April. I will keep you updated on the progress but I imagine it will be slow, as always.
Thanks for reading x