Return of the poo

I've being trying to get hold of B's paediatrician all week but her email is bouncing and no returned phone call. We haven't seen her at least for a year, possibly longer and in light of his new diagnosis I have many questions to ask her. We are still waiting on results of his EEG, official bloodtest results from the lab, me and hubby's bloodtest results from the genetic lab. I want a copy of his MRI brain scan results which I have never seen.

Also this week fun challenge of collecting another poo sample. This is a difficult task in all ways. It's not fun. I need a 'fresh' sample so within 24 hours. I can't catch his poo at school and I'm not willing to make a request for them to send home a pooey nappy for me to open and retrieve poo. So B this morning decides to provide me a nice sample to collect which I promptly do and then it's a mad dash to the hospital to get it there on time... It's a nasty job but someone has to do it. They give you a tiny scoop and bottle. I can't decide how much to scoop, how much do they need to make a test? And do they want sweetcorn or not?

Sorry if this is too much information (no I'm not sorry you are reading this blog because you are joining me on this adventure all the way - insert maniacal laugh here).

En route to car I bump into sister-in-law herein known as S. S gets roped into the journey with me. I'm going down and I'm taking as many people with me. B is pleased to see S in the car. His happy. It's an hour round trip to hospital in the car and traffic. I'm glad S is keeping me company. The poo in the medic bag is sitting on the back seat. I feel like it's a scene from a movie. We pass a runaway bride in the High Street. She's a long way from the registry office and being comforted by either passers by or family members it's not clear. I feel a bit sorry for her but on with the mission.

We get to the hospital and B knows exactly where he is going. But we get to the children's' OPD and it's closed! I can't believe it. All this trouble and it's closed. I'm determined to get this poo sample off. I do not want to take it home. I don't want to repeat it. We try the children's' ward and collar a nurse. She's sympathetic about the poo and wants to get it to the right department too so she sends it off in one of those awesome sucky tube thingies. We wave goodbye to the poo and head off again. I feel quite relieved that it's finally gone but also wondering WHERE has it gone? That tube could get anywhere in the hospital. S tries to reassure me. It's labelled so that's good. The question now is will I ever get results from this test or will I get a call to repeat it again with a fresh sample. Watch this space..

A t-shirt arrived for B this week that I had ordered especially from eBay. It says 22q13 Google it!

EEG test

Today is the appointment to have B's EEG. B's daddy can't come with us which is okay because I think he is only allowed one person in the room with him anyway. As it happens Nanny can join us which it turns out is really good because it takes two people to pin him down! It's not as bad as it sounds. We arrive for the appointment and B is quite happy. He lies down on the floor in the waiting room and appears to have a little nap. As usual this amuses everyone. I'm used to it. It doesn't phase me any more. He tries to hang his jacket up on the big chair and can't reach. It's so sweet because this is what he has learned to do at school. He copies all his behaviours everywhere he goes whether it's appropriate or not. It's endearing now not sure how endearing it will be when he is twenty and climbing on to my lap for a cuddle. Ho hum. Anyway we don't have to wait long and he is called in to the room. B climbs onto the bed and makes himself comfy before the lady has a chance to say anything assuming he would sit on my lap. She asks him if he would like to watch a DVD. B can't speak so I answer for him (also a habit) I spot a Thomas DVD and I know he would love that so I say Thomas Thomas in an excited voice. How I imagine B would do it if he could talk.

He's quite happy he nestles down on the scrunchy blue giant loo roll blanket sheet and watches the TV screen in front of him. This is going surprisingly well. But as soon as the lady starts to stick the pads on his head his hands whip up and yank them off. This goes on for a while. His fast and stronger than expected! As soon as one gets stuck down he pulls another off. Nanny is plying him with buttons and I'm holding his hands down. It's a three man job but eventually we get the pads on and a hairnet over the top. This actually annoys him even more and he keeps trying to yank it off whilst also watching Thomas. The lady starts the EEG and keeps talking it through with us. It only lasts about 20 minutes then it's all over. The pads come off and I spend the rest of the day picking glue out of his hair. It's not a painful procedure but it was stressful and hot in the room. We wanted them to get the best results especially as I didn't fancy having to repeat this exercise any time soon. I asked if we could have the results straight away and she said no. I guess she got the information she needed but wasn't going to share it with me there and then. More waiting.

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.

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.

Neurology appointment

We are going to see the visiting Neurologist today to discuss the results of his MRI scan [note why such a delay - Kat]. B is now aged 2 and 10 months. She reports that she does not think he was dysmorphic and there were no neurocutaneous abnormalities. He is hyptonic and has doughy texture to his skin. Muscle bulk is normal, there is no muscle weakness and his deep tendon reflexes are easily elicited. There are no extrapyramidal or cerebellar signs. He demonstrates good fine motor skills.

Unfortunately there are no clues in the history or examination to make a specific diagnosis. His MRI scan whilst abnormal is not diagnostic. It is reported as showing prominent ventricles as a result of loss of white matter volume and a thin 'featureless' corpus callosum. In addition it was mentioned that the right choroid plexus appears attached to the ventricular margin raising the possibility of in utero hemorrhage or infection. My flu-like illness during pregnancy may be relevant but there was no specific test that can be done to confirm this. The MRI findings are not typical of these seen with more established congenital infection such as CMV or toxoplasmosis.

She is testing his uric acid and an array CGH.

We ask her about B's future and she says that the gap between B and his peers will widen as he gets older and whilst the diagnostic label is global developmental delay, it does not unfortunately imply that children may "catch up". No review appointment.

B's daddy and I leave this appointment like we've been smacked in the face with a baseball bat. This is a lot to take in. We read between the lines and think what she is saying is that we face the prospect that B will always be delayed and will never be normal. She has told us in the nicest possible way but it still hurts. We had been building up to this moment for a long time but it always comes as a shock to receive news like this. You sit in the waiting room sweating and then you sit in their office sweating. It's always hot and I get a bit panicky and bile rises up in my throat. I really wish I could record this conversations and really should make notes because I forget so quickly when I leave the room. You need a medical dictionary and a jargon buster to decipher what they are saying.  She hasn't given too much away and I go home and Google.

I Google "thin, featureless corpus callosum" and find out this has a name. It's "Agensis of the Corpus Callosum". I don't understand why the Neurologist didn't just say this. I'm playing Dr Google. The health professionals hate it that I do it but I can't help myself. I want to know everything. B ticks many boxes in the symptoms of a callosum disorder and I can see the similarities.

Wikipedia says "Agenesis of the corpus callosum is caused by disruption to development of the foetal brain between the 3rd and 12th weeks of pregnancy.^[2] In most cases, it is not possible to know what caused an individual to have ACC or another callosal disorder. However, research suggests that some possible causes may include chromosome errors, inherited genetic factors, prenatal infections or injuries, prenatal toxic exposures, structural blockage by cysts or other brain abnormalities, and metabolic disorders" 

 I make a mental note to ask the paediatrician about "agenesis of the corpus callosum" at B's next review.

MRI Scan

Today is B's MRI scan. This is one of the scariest days of my life. We go to the big children's hospital instead of our local hospital and head for the Neuroradiology department. B's isn't allowed any food, only water in the morning and that's it. He is going under general anaesthetic and I'm terrified. When they put him under he goes all floppy and looks more asleep then when he's asleep (he normally fidgets in his sleep). He looks dead to me and I burst into tears. I know he will be fine but I don't like seeing him like that. I'm so glad B's daddy is with me for comfort. I would never have got through this appointment on my own. We have to wait patiently whilst they take our sleeping prince off for the scan. It doesn't take too long but when they bring him back to ward he is still asleep and has difficulty waking up. It's such a relief when he does wake up and gets back to his normal cheeky self. Now we have to wait again for the results of the scan.