EEG test letter

I get a letter this week with details of B's EEG appointment following his discharge from hospital. They reckon the test is not painful or unpleasant and will take about 45 minutes to perform. A had an ECG a while back so I sort of know what to expect. They are going to stick little pads of wires all over his head and monitor his brain behaviour. This is going to be a challenge as B won't sit still - ever. Even when he is asleep he fidgets. They can't knock him out like they did for the MRI because they need to have B awake to get the figures they need. I'm a bit nervous about this appointment. I don't know how it's going to go. B's daddy can't come with me because he is already leaving work to come to B's geneticist appointment later this week. These things all seem to happen at once. It's a busy week with appointments for all the children. B is also due to see CAMHS. Nanny offers to come with me for the appointment which is helpful although I've been informed from when I took A that only one person is allowed in the room at the time.

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.

Hospital discharge

B gets discharged from hospital today With no further fits overnight, staff are happy to let him go home. The principal diagnosis is "febrile convulsion". I'm convinced it's related to his other problems so they put "global developmental delay and social communication disorder" on his discharge form. Investigations are "normal" and we never get the results of his urine culture. He gets a referral for an EEG. I guess they are looking for epilepsy because B is a bit too old for febrile convulsions. My research indicates that seizures are not uncommon in children with abnormal corpus callosum. B is much happier today. When he smiled at me, it was such a relief. He hadn't smiled for 24 hours and I was worried we wouldn't see his happy grin again.

It's a sad day too with mixed emotions. I am missing A's first day at high school. I wanted to be there for him, see him in his new crisp uniform and watch him off to school. It only happens once and I couldn't be there. As a parent you have to make these judgement calls. But it's still horrible choosing between your kids whatever the circumstances. Fortunately for us A is a cool guy who took it all in his stride and B' daddy sent me a picture of A in his uniform looking pleased as punch.

Another trip to A&E

This week B takes us all by surprise by having his first seizure or fit. It's Sunday lunchtime and B's daddy is making roast. B disappears upstairs briefly. We've started letting him do this because the team at Brainwave have suggested we give B more independence. The bottom stair gate has been removed for some time (since it fell off) and we are keeping the top gate open to allow B some freedom. He goes up to his bedroom to play which is not unusual but typically I'm always on edge, always keeping an ear open to him. This is some of the daily challenge of raising a child like B. You are always alert, never relaxing, never truly resting. Anyway, I can normally hear him playing and hear his little noises so I know he is okay. But after a little bit (I'm on the sofa knitting) I realise he's been quiet for a few minutes. So I go up to check on him and his got himself into bed and is throwing himself around the bed squirming and jerking and his eyes are rolling into the back of his head and he's moaning. It's so frightening but I don't panic. My mother's intuition tells me it's wrong and he needs help. So I call down to B's dad yelling there's something wrong with B. I get straight on the phone and dial 999. I've had to do this before so it's not as scary as the first time. I try to stay calm on the phone whilst B's daddy is trying to help B. I ask for an ambulance and explain what's wrong. It's hard to explain as we've never seen a fit before. All I know is that B is going unconscious and I'm worried he can't breath. He's now floppy and unresponsive. The ambulance doesn't come after 10 minutes and we call back. Still no sign of the ambulance and I'm pacing the path outside the house listening for the siren. The kids are freaking out too because they have never seen their brother like this and they are scared. L says she doesn't want B to die and that breaks my heart a little bit. I'm scared but trying to keep it together. The ambulance doesn't come after 30 minutes. We are still pacing with B's daddy trying to keep B awake and his breathing is funny and his tummy is making weird noises. We phone the ambulance again and they promise it's on its way. We could have got ourselves to hospital quicker than this. After about 45 minutes the ambulance finally arrives. The staff are brilliant and reassuring. The ambulance response lady on the phone says let B go to sleep so when the ambulance staff treat him they give him some oxygen and he starts to wake up a bit. Looks around but goes back to sleep again. He is like this in the ambulance to the hospital. Alert for a bit and then he conks out again. B's daddy takes A in the car and L comes with me in the ambulance.

We aren't bluelighted to hospital (which is always reassuring) and when we arrive it's back to A&E and normal A&E service resumes. We're back in the system. Sitting and waiting in the dullest place in the world. I hate A&E. The staff are overworked, tired but they do their best. I've tried to pack some stuff in a rush but I don't have everything and the kids get bored. B is just sleeping on my lap until he gets seen. After what seems like hours and explaining the same thing over and over, B finally gets admitted to the children's ward for observations. He has had his bloods taken (he was too sleepy to really complain) and his urine sampled. I haven't eaten anything since breakfast. Remember the roast that was cooking when all this happened - well that was ruined. Hospital don't provide food for guests of patients and the only food available is chocolate from the vending machine. By this point B's daddy has taken the kids home and I'm on my own with B. I can't leave him on his own and I feel a bit trapped. About 10pm I get given a beef sandwich, probably left over from the day's catering. I'm vegetarian but I'm desperate so I eat it. Fortunately B's daddy comes back later with my stuff and some goodies for me. Must remember in future to keep a packed emergency bag of supplies in the car.

One of the things that was most distressing about being in hospital is explaining to everyone that B is disabled. He can't speak and he can't answer their questions. I wanted to put a great big sign over his head saying "I CAN'T SPEAK". I had to explain it over and over. I persuaded them to let B sleep in one of the baby cots because it's not safe to let B sleep in a normal bed. He could fall out of it or even climb off it and go wondering! He was too big for the cot but he was fine curled up to sleep. I don't what we will do when he really is too big for the hospital cot. It surprises me that they don't have a better facilitiy in place for disabled adults with learning and behavioural difficulties. I'm sure we are not the only family! I sleep on a camp bed on the floor. I get some sleep on and off and B is sleeps well for a change. Staff say it's totally normal to sleep so much after a fit. B doesn't have any more fits but I'm woken up all night by observations and two more children being brought in in the middle of the night.

CAMHS Referral

I get a letter this week saying that B has had a referral to CAMHS which is the child and adolescent mental health service (who came up with this name I don't know).  They have 'discussed' the concerns and want to meet to make recommendations. Another waiting list. They are trying to get their waiting list down but still likely to be a wait of several months. This is the story of my life. They promise to write again when B's name comes to the top of the waiting list.

DDD Study

I get a letter today from the South West Thames Regional Genetics Service about the DDD study. They are writing to tell me that the result of the array study undertaken on B has not so far identified the cause of their developmental difficulties. This is just a preliminary result and further research is activity continuing. Further research will include gene sequencing using the very latest technology that looks across all of the genes. A dedicated team of researchers will keep looking for a genetic diagnosis to explain B's difficulties until October 2015.

They are having considerable success in finding diagnosis for children in whom standard tests have been unsuccessful.

I'm used to hearing no news by now. I've become a little bit hard to it.

Brainwave Initial Assessment

I've got a letter this week from Brainwave letting me that B is on the waiting list for an initial assessment in 2013. I can't wait for this opportunity as Brainwave have come highly recommended. More waiting. They are temporarily suspending initial assessments due to a recruitment programme.