Clinical Genetics Letter

I get a letter today. It's only a few sentences but the words jump out at me and I nearly pass out. It's from the Consultant and Honorary Reader in Clinical Genetics regarding the DDD study. It says "we have had some interesting results". My heart starts racing. I haven't felt this nervous/anxious since I opened my A'Level results! . I'm not sure what to do. Part of me knows from previous experience (you've read that right here in this blog over the years) that if it's good news ie the results are negative or normal or typical then they send me a letter saying so. I've NEVER had a letter that asks me to have an appointment to discuss things further. My mind is racing. It's got to be something important hasn't it. Otherwise they would put it in a letter. I can't wait for an appointment I've got to know right now. So it's nearly 5pm and I ring the number on the letter not expecting a reply but the Geneticist herself answers the phone and knows it's me straight away. I can hear her smiling on the phone so I brace myself. I have no idea what's she's going to tell me but I say to her I want to know now. I can't wait. I jot down what she tells me. B has a deletion in chromosome 22 - in some cells not all cells. He needs to repeat the blood and saliva test. She's pretty sure the results are correct because they aren't normally wrong but she says the research lab want to prove the results in a proper lab. I'm not really taking all this in but I say thanks and hang up. My head is swimming. I'm desperate to Google it but I'm scared too. We've been living without a diagnosis for 5 and half years. Part of me doesn't want to know. It's comfy not knowing. We've learned to live without a diagnosis. B gets the treatment he needs and support he needs, perhaps he doesn't need a diagnosis after all. I've got used to it. But the urge is too strong and I do a little Google, promising myself not to get too excited - just a little peak. Deletion of chromosome 22 is quite rare, about 1 in 4000. It's caused by a DNA mutation. B is an X-MEN ! How cool is that. I'm shaking a bit now and drop the news on B's daddy. He doesn't seem that excited and it upsets me a bit. It's awesome news and I want to scream. I suppose it's a bit surreal. Takes a while to sink in a little bit. We keep it to ourselves and wait for the appointment next month to get the whole picture.