More genetic results

We have our appointment today with the doctor from the south west Thames regional genetics service. B's daddy is able to come with us. I think it's really important that he hears from the geneticist himself. I know from previous experience that I am rubbish at appointments. I get flustered. I can't remember what's said and then I can never repeat it properly. This appointment is so important that we both need to hear the news. I also want B's daddy to be as excited as me!

We're bringing B with us and straight away he takes to the doctor and she leads him to the interview room. He is so funny he gets on the examination bed and takes off his shoes. He knows exactly what's going on and then my heart hurts a little bit that he shouldn't know what to do. No child should have to have been to hospital as many times as he has. It's normal for him and that makes me a bit sad. I'm bracing myself for the news and the doctor is fantastic. She gives us time to process the information, ask questions and doesn't rush us. She is clearly knowledgable in her field and B really likes her. He lets her examine his feet and listen to his chest and we convince him to get a saliva sample by pretending to brush his teeth with the scraper thingy. She also takes photos of him.  The doctor gives us a leaflet about Phelan-McDermid Syndrome also unfortunately known as PMS (I mean what was wrong with calling it McDermid-Phelan Syndrome) named after the two doctors who discovered it in 1985. Doctor told me off for Googling and I swore that I didn't read about it too much which is true! It doesn't really sink in. We end the discussion with me holding back tears. It wasn't my fault after all. I've been punishing myself for 5 and half years wondering what I did or didn't do during pregnancy that caused him problems. It was just a random sequence of DNA mutation. They call it de novo which means it's not inherited. I ask her if this might explain his abnormal MRI and she thinks it probably does.

When I get home and finally research it I discover that the syndrome is much much rarer than I first thought. There are so many variations of deletion of chromosome 22 and many syndromes. Phelan-McDermid cases are rare with only 800 known cases world wide. This makes B about 1 in 9 million. There are better odds of winning the lottery.