TOTS 100 - UK Parent Blogs

Monday, 28 October 2013

Autism (again)

This post was going to be called Living with a Diagnosis again as it's been the prevailing theme this last few weeks but after today I've returned to the Autism Again. Feeling very fed up and dejected today on the back of a positive few weeks. We have been seeing a Sleep Hygienist a few times to get some advice to help B sleep at night and in view of getting medication (hormones) to help him get to sleep if necessary. The sleep hygienist cannot prescribe the meds so we saw a doctor today. I thought it was going to be a quick appointment but it turned into one of my worst nightmares. Due to administrative error with the appointment time, I had to wait an hour. I was given the option of having another date in a few weeks time but opted to wait as it was crucial to get this problem sorted out once and for all. I did a good job of entertaining B in the waiting room.


We drew pictures together, read books, played with make believe cooking, made and flew paper aeroplanes. I was feeling quite smug at my ability to keep him occupied but was relieved when the doctor arrived. However within just a few moments in her office she immediately got on to the topic of autism and ASD (autistic spectrum disorder). Now B has had two different assessments about a year apart with both outcomes being that he does not meet the criteria for ASD. I'm happy with this. In my view and experience he does not seem autistic although he does have some autistic traits. This is even more notable considering his diagnosis of PMS. He has frequently been described by others as unique, an enigma, not fitting any box. This was because no-one knew what was wrong with him. He was abnormal and not typical but was not typical ASD either. So you can imagine how put out I was to cover this 'old ground'. It's not that I resent a diagnosis of ASD it's just that I don't believe it 'fits' B. The PMS is the prevelent syndrome. I don't want B 'lumped' into the autistic category without considering his other needs which are due to the PMS. By all means some children with autism have PMS but not ALL children with PMS have autism - does that make sense?.

The doctor could see I was getting upset and she kept changing the subject back to the sleep medication but then returning to the autism again! She just couldn't let it go. I tried explaining to her that lots of people think B has autism on first sight but once they get to know him it becomes obvious that he doesn't. He just shares some traits. She asked to give him another assessment (which would be his third ASD assessment) but I said no thank you for now. It's something we could consider down the road but for the time-being he had an assessment a few weeks ago and I don't think it's necessary for another one so soon. I left with B's medication prescription clutched in my hands but a sorry looking expression on my face.. The doctor seemed genuinely sorry to have brought the subject up again and I said I'm tired of hearing this repetition. I guess it's never going to be something we can truly put behind us. I appreciate that she is experienced and an expert in ASD but I am  an expert in my child and I think this is one of those occasions when mum knows best!

Saturday, 12 October 2013

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!

Thursday, 10 October 2013


I've spoken to the geneticist again this week to ask a few more questions that I forgot to get answered during our appointment last week. I think I was a bit overwhelmed by it all and needed some time for it all to sink in. Turns out they want to study B, not because of his rare disorder, but because the researchers used very new technology to find out the results. I'm hoping they might write a paper on him. That would be very exciting.

Also this week have spoken to CAMHS a couple of times regarding B's last appointment about the possible autism diagnosis. I have never believed he has autism, the social communication disorder clinic said it's unlikely to be autism and now CAMHS do not think it's autism. So this new diagnosis has been brilliant to explain why B has autistic-like behaviour. It explains a lot. And explains why he has never been able to tick all the boxes. I feel excited.

Friday, 4 October 2013

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.

Monday, 23 September 2013

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.

Monday, 9 September 2013

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.

Tuesday, 3 September 2013

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.

Monday, 2 September 2013

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.

Sunday, 1 September 2013

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.

Monday, 3 June 2013

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.

Tuesday, 30 April 2013

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.