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.

Genetics Service

It's B's third birthday today and we're back in hospital meeting the clinical geneticist from the south west Thames regional genetics service.. He has been referred by the Paediatric neurologist. They want to consider if there could be an underlying genetic diagnosis for B's problems. There is no significant family history of note. We go over B's birth history and my pregnancy and she makes notes about this. I have to go over the last 3 years again explaining that we had concerns about his development in the first couple of months particularly when we noticed that he was not reaching and did not roll. His is unsteady on his feet and falls over frequently. He has difficulty climbing stairs and getting on and off seats. He has been delayed on all important milestones. His fine motor skills are more age appropriate although delayed. He can pull up a zip and use a knife and fork. His understanding is inconsistent and he doesn't always respond to his name.. Sometimes he follows simple tasks. We're using Makaton but he does not have a good understanding of this.

He vocalises but has no words. He's currently getting one-to-one support at pre-school. He is quite chesty and often has a cough or cold. Cystic Fibrosis has previously been excluded. He has no heart or kidney problems. His urine smells quite a bit and can be quite dark yellow and it's not affected by what he eats or drinks. He has puffy feet which turn bright red sometimes. But it doesn't cause him any discomfort.

B looks like his brother and sister with no unusual features. He had some molluscum on his head. He has normal hands, normal skin pigmentation and normal heart sounds. He had a chesty upper airways but a clear chest. He was hypo-tonic (poor muscle tone). On standing his feet became puffy and developed a striking red colouration which sometimes rises to his ankles. There was no pitting or indenting when pressure was applied.

B had already had a special genetit test called an array which looks in close details at his chromosomes and is normal. In view of his absent speech she wanted to exclude one diagnosis and organised this on the stored DNA. She explained that when considering genetic conditions they look for specific clues in how children look or behave. With B there are clues which suggested a particular diagnosis which can make it difficult when trying to reach a diagnosis. Genetic testing is improving all the time and this might help make a diagnosis for B. I'm told that B can join a large study called DDD (Deciphering Developmental Disorders) in a few months time. They are going to use the very latest technology and are looking specifically at causes of developmental delay in children like B. No more appointments but they will let me know the outcome of the additional test that's requested and with regards to the DDD study.