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.