Undiagnosed Childrens’ Day Instagram Challenge

Day 20 “What I’m having for lunch”

Today Jacob and I spent the morning at the hospital for an appointment with developmental psychiatry. An ECG and blood test was recommended and as I couldn’t face coming back in a few days (parking for one reason) I decided to power through and get it done today.  (He was very brave, if somewhat confused!)  So by the time we left it was certainly lunchtime.  After a weekend of too much chocolate and my very sludgy run last night, I thought we should have something nearly healthy!  Needless to say his didn’t touch the sides!


Transition (part 1)

There’s been talk of planning for Jacob’s “transition to adulthood”.  It’s a thing we have to think about from around year 9, what sort of life we would like for him when he “transitions”.  Now he’s 13 he’s known to the “transition” worker.  She wrote a paragraph for his EHCP review.  She’s never met him or us but we’re on her radar. You might be thinking that my use of “” means I’m not that happy with the phrase “Transition”, well you might be right.  It’s an irritating little word and until this evening I couldn’t quite put my finger on why. Is it actually a real word? I don’t hear any parent in a mainstream setting discus transitions when their child moves on to 6th form or University. It sounds like it’s a noun being used as a verb.  Remember the Olympic Games ? How those that won medals were said to have “medaled”?  Well, no a medal is a thing and winning one is a doing thing! Medaling is not a thing and I’m not convinced transitioning is a thing either. But I’ve looked it up and it is a real word and our son will be doing it in during the next few years so that’s not it…. I can’t let that be the reason it annoys me.

Charlotte didn’t “transition” to adulthood she just grew up and it seems to me giving this natural, normal process another name is just hammering it home that Jacob won’t, in many respects be growing up. Yeah, thanks.  I know it’s probably unfair of me after all there’s no normal process for Jacob and professionals need to call it something… but … It still annoys me!

Perhaps it’s the feeling that the word has less emphasis on the child and more on other agendas?  I’ve spoken to a few parents whose children have “transitioned” and consistently I’ve learned that although there’s lots of talk about planning for post 18 (or if they stay in education, post 25) funds and a place are only secured 6 months (or less) before the child’s 18th birthday.  So in this climate of no money, “Don’t get your hopes up!”,  I think I’m going with the headline on Mencap’s  Transition page of their website

“Mencap Tranition to adult services. What’s next. See what options there are and (and here’s the important bit) how services for your child will change”

That’s what it’s all about.  It’s preparing parents for the fact that at some level their child will become an adult in the eyes of society.  It’s less about them becoming an adult and more about standing on the edge of the childrens’ services cliff …..and plummeting over the edge into adult services. Can’t wait!






By the end of July we’re thinking about Jacob’s birthday. He’s going to be 12 years old. I always find it a bit of a weird time. I s’pose birthdays are a bit like Christmas; Quite sentimental and also a time for reflection. Perhaps I don’t do this as much as I used to but I do think about how far he’s come. What we hoped he might achieve and ultimately what it looks more and more likely he won’t achieve. I gave up on the notion of speech quite a few years ago now. What’s the point of agonising over something that won’t happen?   Presents are always difficult as he hasn’t really grown out of any of his toys. And he has loads. I week before his birthday I try to rationalise them and set aside a box for the charity shop, but some old toys are rediscovered and are interesting again. I take him to Toys R Us to see if anything grabs his attention. In the past I have found taking him round the baby toys heart breaking (he can’t build with bricks or do any imaginative play) but this year I’m not too bothered. Maybe it’s all about how much I’ve “come on” than him! He’s not really that interested in anything but I settle on something to help with fine motor skills and that will fit in his backpack to carry around. I go back the next day to get it in secret, though we don’t know he understands the concept of presents. However like all really young kids, when we help him open it, he’s just as interested in the box his toy came in as the toy itself.   When Jacob was little his birthday would start me thinking about all the events following his birth. Within 24 hours he had stopped breathing and was rushed to SCBU where he would stay for 3 days and stop breathing a further 6 times. All investigations showed nothing was wrong and it was put down to a “blip”. I don’t really know how to describe this time at all. Words actually fail me, but the feeling of my skin turning cold and a rising boiling hot panic will never leave me. For many months afterwards I would have the image of him blue and being whisked away from me running like a film clip in the corner of my mind constantly. I don’t know when it stopped, but the reality of apnoea alarms, follow up appointments and worrying if he was “OK” took over and I don’t mind admitting panic attacks and overwhelming feelings of dread took their toll. I got some professional help which worked but when we discovered Jacob wasn’t developing properly those feelings returned. Again I can’t really remember much about the specifics of this time. I think of them as the “dark days”, those 8 months or so from being referred and seen by a developmental paediatrician to getting an actual diagnosis of “your child has a learning disability and is going to be disabled”. That’s a conversation the sticks with you for sure. That moment when someone who knows what they’re talking about confirms what you’ve been hoping wasn’t true, but deep down what you knew was coming. But we’re not in the “dark days” anymore. Jacob makes very very slow progress but almost always I don’t care. We go to holiday club and birthday parties and from time to time I think “Bum he’s the most effected child here” but he’s usually the happiest and cuddliest. He’s always going to need 24 hour care so anything else he learns now is a bonus. He is happy and loves life and really that’s all we want for our children isn’t it?

Rare – It’s all about perspective

I’m at a disability exhibition for SWAN UK, chatting to parents and professionals, spreading the word…. According to us! We are a relatively small group

of families that suddenly find they’re in a world the never expected. I think we all consider when we’re expecting a child that we could have one with special needs or a disability. But to then find that you don’t know what’s causing their problems, well you don’t expect that. The reality is that not only are we in this minority, we are a minority within that minority.

Someone says to me “Wow that’s really rare isn’t it?”

Well it is, until it’s you. And then not only is it the norm for you but you discover it’s the norm for lots of families.

I’m not sure what I would consider rare to be now.   Jacob has been tested for a lot of what I would have considered rare conditions. Angelman Syndrome 1 in 12 – 20 000 thousand Smith-Magenis 1 in 15 – 25 000 and they’re all negative. And because of Jacob I know 3 children with Angelman Syndrome so to me it’s not that rare!

I’m sometimes asked if I knew Jacob was going to be the way he was whilst I was pregnant. No is the short answer, in fact we didn’t know for sure until he was 15 months old. I think, but I can’t be sure, that this question actually means would you have terminated the pregnancy if you’d known? Well no I wouldn’t.

Sometimes I’m asked if I had all the prenatal tests, and no again is the answer. But I think people then think that’s why we didn’t know. I explain that we have since had all those tests and more and they’re all negative. So yes, that’s right, there’s no way of knowing you’re having a child like ours. Mums usually look shocked by this, cos that’s right, it could have happened to them, and they wouldn’t have known or had a choice. There’ nothing that singles us out for this role. And the phrase “special kids are given to special parents cos they can cope” is nonsense. We just cope the best we can just like any other parent. Nothing sets us apart in the beginning, we grow into the role from having to. We become copers and special out of necessity.   And actually we don’t’ cope all of the time. To all mainstream parents who say “I don’t know how you do it, I couldn’t cope with all that” it’s amazing what you can do when choice is taken away from you.

I was offered the AFP test at 16 weeks pregnancy. You know the one that gives you a ratio risk of having a child with down’s syndrome or spina bifida ? We really didn’t see the point. I wasn’t going to have amniocentesis because of the small risk of miscarriage. And anyway I was already pregnant and wanted that baby, no matter what. The irony is that I clearly remember talking about it with a colleague who was just back from maternity leave. I didn’t know why screening for just these two conditions was so important and as she said you could have a child much more several effected with something else!

So, here we are with a beautiful child that is effected by some random genetic condition that possibly no one has seen before, with all the usual tests that would have been done prenatally being normal, countless other tests and chromosomal screening all normal and now on a study waiting for an exome sequence to possibly explain his problems.

Rare is just a matter of where you’re looking at it from. If you’re that one in a million then it’s every day for you. One person’s Rare is another ones mainstream!


One morning in early December I’m getting up and ready early as we’re taking Jacob to an appointment, but not one of his regular follow ups….this time it’s with a new consultant. I realise how far we’ve come because I’m quite hopeful that not only that we may get some ideas as to what’s going on with our son, but also that they may get real insight into how his behaviour affects him. It’s a 3 hour appointment!

I remember that first referral letter from Jacob’s neonatal consultant to a developmental paediatrician. It must be more than 10 years ago now, when he was 9 months old. I spent ages re reading it underlining and looking up all the words I didn’t understand , but the phrase “….He has the demeanour of a much younger child of about 4 ½ months…”stays with me to this day. I hoped that he had seemed so because he was ill, was having a bad day and would be fine in a few weeks when we had a follow up appointment.

Fast forward 10 years and I’m hoping he has a really bad day and our new team of doctors see him as he really is…at his worst! There’s always a concern that your description of your child’s symptoms is not as effective as actually seeing it. Thank goodness for smart phones, I’m armed with plenty of footage!

The appointment with Neuro Psychiatry is indeed 3 ½ hours long! We’re tired, but slightly more optimistic at the end of it. There have been recommendations and a new drug that might help. However again we are told that “Jacob is quite unique so recommendations are not straight forward… trial and error etc” that’s fine, I’m grateful for the honesty. Although I still find them exhausting I’m much better at this appointment business, but I would have liked some advice 10 years ago when all this started. So whether you’re swan member or have stumbled on this blog here’s what I’ve learnt over the last 10 years and what I wish I’d known at the start.

I write everything I want to say down before you go. It doesn’t have to be a question, sometimes it’s just a list of symptoms or something general that’s popped into my head. I still do this and its actually appreciated by the professional.

I try not to get frustrated if they’re running late! I usually find that the doctors that keep you waiting are usually the ones that will give you the most time that’s why they run late.

Probably the most important thing I’ve learnt for me is to be realistic about what can be achieved at the appointment. In the early days I was always hoping for “ah, yes I know what this is and we treat it like that!” I was always disappointed, and sometimes this was crushing. Our children are complicated, different, difficult to understand and even with a diagnosis I’m aware that we may be left with more questions than answers. I take all my questions along but try to be prepared for the fact that we won’t be getting all the answers that day. It’s just another small step.

I let Jacob be himself. If he’s having a loud, agitated day when his sensory processing disorder is uncontrollable I let him get on with it in the consulting room. They need to see how it really is.

I am acutely aware that whichever doctor we see is a specialist in their field. Jacob’s case has been presented nationally and internationally but still we are diagnosis free. However Jacob seems to be traversing the fields and we are the expert on Jacob. I took armfuls of google print outs of genetic conditions that he could have to our genetic appointment some years ago and said to our consultant “ I hope you don’t mind but could he have this… or this… or this?” He said “of course I don’t mind. I’m the genetics expert but you’re the Jacob expert!” We are the best experts on our own children . So whichever specialist we are seeing will (or should) value our unique insight.

The point is I suppose that we spend so much time with our children and doctors only get a snap shot impression of them which is not enough really when dealing with complicated cases. If there are any new symptoms or behaviours I video them on my phone. I tell them exactly how it is and I try not to brush off or deny how hard it is for me my family care for Jacob. This has been particularly hard for me to do and is a whole blog in itself! One for another time….


I’ve long since given up comparing Jacob to other children his age (11 years) something I used to do a lot in the early days.  I had almost forgotten that he would have been in the same year group my best friend’s daughter if he had attended mainstream school.  The difference between them is vast it’s now beyond compare.  Years ago when Jacob was a baby I gave up going to toddler groups because all the other mums’ babies were changing except mine.  Back then we didn’t really know anything was “wrong” with the little man but deep down I did and my mind would race ahead. I would leave those groups with a cold panic in my stomach, go home and try to make him track a toy with his eyes and reach for it.

Things are different now.  Jacob has moved on but very slowly and I don’t really think about his age at all most of the time.  He is where he is. I don’t compare him because he is like no other child I’ve known (or it seems no other child his paediatricians and geneticist have known!)I can’t compare him to other children who have autistic behaviour because he’s not really like them! There are so many issues that complicate everything about him and they all overlap like a very messy vendiagram!

However, from time to time those milestones he hasn’t reached, and more than likely will never reach come back and smack me in the face again.

In September Jacob entered the secondary department of his school and I was suddenly reminded that he should have been going to the school his big sister attends.  When term finished there was an assembly at his school where all the children moving on or up have a small presentation and are given their folders with all their achievements. As Jacob received his I was acutely aware of how far he’d come since he started when he was 3 ½.  Look, he’s walking and he couldn’t sit back then, but look how he was learning how to use PECs in speech therapy and we are STILL trying to do this!  Some steps are so small and it can be heart breaking but that’s the reality.  I am reminded that there are some normal milestones we will never experience with him.  He will never say mummy or daddy (he’s non verbal), have a first day at big school, take GCSEs (special schools don’t have any of that nonsense!)and I joke that we will never have to worry about drinking, parties and drugs!  So after his presentation in July I was sad for quite a few days but now I know its OK.  It’s OK to feel sad because it is sad and from time to time I will feel it and later it will pass and I can get on.  “It” will never go away completely and I will never get over it but I don’t have to.  I can accept that it will creep up on me now and again, go with it and then move on for a bit.  I can see the milestone Jacob has achieved and I’m beginning to let go of the ones he never will.