Jude’s story so far

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I am mummy to three beautiful children. Elsa is 7, Ray is 4, and Jude came along in August 2015 to complete the set. His brother and sister have adored him since day one. He was such a good baby. In fact in the first weeks he slept more than either of the others had done, and he hardly ever cried.

However, since he was born my husband Ben and I had a feeling that something wasn’t quite right. It was hard to put our finger on, but our gut instinct was telling us so. He used to struggle to make eye contact in the early days. He’d focus above your eyes as if he was looking over our heads, which always seemed a little odd, in fact we wondered if his vision was ok. Then, at the time when most babies give their first adoring smiles, his was more of an attempt at a smile but not particularly convincing. The smiles did eventually come and by 10-12 weeks he was smiling but still not very often. He wouldn’t giggle and goo and respond in the way standard babies do. We nicknamed him ‘Moody Jude’. You’d be in a supermarket and a complete stranger would say ‘aw isn’t he cute?’ and try to make him laugh, and he’d just stare at them glum-faced, unresponsive, so we’d laugh it off and say ‘ooh it’s tough to get a smile out of this one!’ Secretly though, we knew something was up.

When he got to 6 months he wasn’t sitting or rolling. I wasn’t unduly concerned but having two other children I was aware that he should be starting to do these things soon.

He started on solids and struggled to sit up in his high chair. He’d sort of slump down and couldn’t really control his head. I bought one of those high chair cushions to wedge him in which seemed to help. Then came eating which at first he didn’t take to that well. He gagged a bit on anything with a texture, I suppose the way most babies do for the first time. I guess this continued for a little longer than I would have liked. Moving onto the next stage of food took way longer than with my other two, and likewise finger food was a no no at the start. He just couldn’t hold or grip anything. I’d place a rice cake in his hand or a piece of toast and he’d just drop it straight away, without a glance down to see where it was, he was uninterested. I was more nervous too with the fact he might choke as he was just not ready for feeding himself.

At 7 months he rolled over. I remember it clearly as we were away with family for the Easter break. I remember feeling so thrilled that he’d reached his first proper milestone. I was really hopeful that the others would follow soon.

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He was now 8 months old and still unable to sit up without just falling straight over. We bought him one of those baby nests to support him, which we’d used for my other son Ray from about 4-7 months. I tried hard not to compare them too much but here we were at 8 months old, unable to sit up and unable to pretty much do anything else. No clapping, no waving, no copying of any kind. No babbling. Certainly no sign of crawling. My positive energy was fading fast. What was wrong with our baby?

I went back to work when Jude was 8 and a half months old, leaving Ben to takeover the childcare. This was when we decided to contact our health visitor and get him referred. I clearly remember taking myself off to this little private room to make the phone call, and as I listed everything that Jude wasn’t doing, I just burst into tears. She was lovely and told me to try not to worry, he’s still only 8 months old. So I pulled myself together and got on with it. We met up with her and she agreed Jude was a ‘mystery’ and due to his developmental delays, arranged a paediatrician referral for us. But these things take so long to process and there’s such a waiting list. We eventually got an appointment through for July.

By this time in other news we were in the process of moving house. We’d discovered that we couldn’t afford to convert our loft as we’d hoped and in order to get the bigger house we needed with three children, we had to move. We’d spent weeks looking at different areas and finally put in an offer on a lovely house by the sea.

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Jude was now 11 months old (the age Ray was when he started walking) and we finally saw the paediatrician in July. He was still not sitting up unaided. Still not interested in playing with toys. Not really gripping things. Not imitating at all, no clapping, no waving. Minor babbling. By this point I was googling all sorts and had convinced myself he had cerebral palsy. But Ben and I were hopeful that the paediatrician would put our minds at ease. We hoped he’d tell us, ‘oh he’s not that far behind, I’ve seen lots of children at a similar stage not reaching milestones and they’ve caught up – don’t worry’. But he didn’t say that. We sat through a painful hour-long appointment where he assessed Jude, and we watched as he failed to hold two blocks and bang them together; failed to pass two objects between his hands; failed to respond to his name being called; failed to follow an object when it was dropped on the floor, and pretty much failed most tasks. At the end of the appointment he said Jude was about 6 months behind developmentally. He said he would be referring him for blood tests, neurological tests due to his ptosis (droopy eyelid) and for physio. I tried to to fish for what he thought his prognosis was and he just said ‘put it this way, if there was nothing wrong I wouldn’t be referring him’. We left his office and I felt numb. I had a little cry, hugged Ben, squeezed Jude tight, put on my brave face and jumped on a train into work. That was a tough day.

Ben was away in Scotland working for most of the summer. We eventually moved house late September 2016, and what came next was the cherry on the cake of the most stressful year of my life.

We’d been in the new house (in a completely new area) a week or so when I took a call from the paediatrician. He told me Jude’s blood test results were in and they showed that he had a duplication on chromosome 15, otherwise know as Inv Dup 15 or Idic15. This was all total gobbledygook to me. ‘Sorry, which chromosome, what does that mean? I don’t really understand’. The line was bad, as was the timing as my mum had just arrived at our house to visit, the kids were tearing around making lots of noise, and I didn’t really take in what he was saying. “I’ll put it all in a letter to you”, he said. And with that, we were left with my scribbled message on a bit of paper which I put to one side and didn’t dwell on too much. There was so much going on having just moved house, trying to sort schools and nurseries etc… I’ll wait for the letter I thought.

Well, about a week or two later, I was at work on a cloudy October Monday morning. I’d had a missed call from Ben on my mobile, then another. I popped out of the office quickly to call him back and my day (life) took a huge turn for the worse. He said, through tears, I’ve just received the letter about Jude, and I’ve been looking up his condition online. He was crying. A lot. He said “basically it’s all our worst nightmares come true”. I started crying too. Then when I got back to my desk I started googling it. Well, quite frankly everything I read was just like a punch in the face. I felt sick. Like a dark cloud had just moved in across any positive light I had seen up until this point. Anyone who is a parent will be able to understand how devastating it was to read the following conditions relating to your child:

  • Hypotonia (floppiness or unusually low muscle tone) in newborn babies
  • Delays in reaching ‘milestones’
  • Variable disabilities in learning and motor development.
    Children will often need  support with learning although the amount of support needed by each child will vary
  • Absent or delayed speech
  • Unusual behaviour, often including behaviour on the autistic spectrum
  • Seizures are present in over 50 per cent of individuals with a duplication of 15q.

Basically a total nightmare. And that was it. All we had for now was Google.

We’d been told in the letter that we were to both have blood tests done to clarify whether this chromosome abnormality had occurred ‘de novo’ or whether one of us had passed it onto him. So we were in a rush to get registered with a GP in our new area, get blood tests taken, then we had to wait weeks for those results. Finally we received an appointment with the geneticist at Guys for February 2017. Jude was 18 months old.

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I was kind of dreading the appointment with the geneticist. After the initial paediatrician appointment back in July which hadn’t been so great we weren’t feeling hugely positive. However, the doctor was lovely. She was quite positive about Jude and about where he is developmentally. She said to us when we got there ‘so what are you hoping to get out of this appointment?’ to which we both replied, ‘Just to speak to a human being who knows something about Jude’s condition will be nice. To not be relying on the internet for all our answers’.

So mine and Ben’s blood test results revealed that neither of us are carriers of the chromosome abnormality and this has happened completely randomly. It could have happened to anyone, 1:30,000 – what are the chances? Maybe we were greedy having a third baby? I hate to say it but I have that thought a lot of the time. Who do we think we are? Why couldn’t we just leave it at two children, then none of this would have happened. But life isn’t like that. All the ‘ifs’ and ‘buts’ aren’t going to help change the situation. It has happened, to us, to Jude, and we have to deal with that in a positive way. There is no other way to get on with our lives, than to change our perspective and our expectations. Jude is such a sweet natured little soul and I love him so much. He is already teaching me to be a better mummy and a more patient human being. I wouldn’t swap him for all the world. Our journey is going to have it’s challenges, more so than some, less so than others. We will do for our baby what any parent in our shoes would do. Love them and cherish them and hold them tight.

And that brings us up to date, April 2017… Jude is 20 months old and here is the start of my blog about our journey with our beautiful little boy.

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