Diagnosis

“So what is actually wrong with Louisa?” Let’s be clear right from the start, just in case there is confusion….. there is nothing ‘wrong’ with our girl. She is wonderful and funny and everything she is meant to be. She brings more joy and laughter into our lives than we’ve ever known. But, I often find that people are confused by her. And I have to admit that before I had Louisa I also believed that doctors knew everything and that every illness/ syndrome had a name. But we had a hard lesson that they don’t. I won’t go into the details of the early days and what led us to where we are now (maybe I’ll talk about that more in another post one day) but I’d like to explain Louisa’s current diagnoses and the impact they have on her every day life. Once again, to be clear, Louisa is SO MUCH MORE than any diagnosis – yet I appreciate that by giving some context helps people to understand.

So here goes….

Currently we are exploring the genetic mutations Louisa has and in particular the de novo variant in the ZNF865 gene. Now I know that sounds a bit technical and let’s be honest, I’m no geneticist here so I’m probably explaining it all wrong (however just to put it out there Louisa’s new Great Ormond Street geneticist referred to David and me in one of her clinical letters as ‘the parents are extremely well informed’ so I basically feel like we got gold stars!). Anyway, I’ll try and explain it the way I understand it through the explanations we’ve been given in the past…..

Think of a library having 22,000 books. Louisa’s first genetic test was like this, they basically went into the library (her genes) and checked that all 22,000 books (genes) were there. Louisa has all 22,000. So then they went to the next stage. Which is basically like going into that same library, getting each and every one of those 22,000 books off the shelf and reading them ALL from front to back to check for any spelling mistakes (variants). David and I had this testing too. From this, they were able to see that Louisa has variants in three genes. For one of them we were told they only knew of a little boy in Denmark with the same thing who was showing similar symptoms. It was a completely random occurrence- something that just randomly happened during conception. The other two gene variants were also extremely rare and were inherited from David and me. It was these variants that were initially believed to be the cause of her special needs. She had LOTS of testing to try and confirm this as these genes were associated with Muscular Dystrophy. I have to say when all of this was going on it was hands down THE WORST time of my life. I pretty much lost the plot. I was traumatised by all the information we were being given. I look back at the Michaela then who was so utterly terrified – genetics was a big scary new world – and just want to give her the biggest hug. After a year of testing and monitoring with everything coming back ‘normal’ these gene variants were put aside. Louisa didn’t look to have muscular dystrophy- they don’t know what the impact of these gene variants are – and we have been told they cannot completely discount MD until she is around five. But it looks very unlikely at this moment in time.

By this point we had kind of parked her genetic testing. The pain we had from this time and all the things Louisa went through was too raw and Louisa was doing ok. We kind of accepted that we most likely would never find the reason behind her disability and started to feel more at peace with this. The truth is it doesn’t really matter the diagnosis- what’s more important is to treat the symptoms. As long as we were getting services for our girl without a diagnosis we were ok without the label. However, we stayed in touch with Louisa’s geneticist in Canada (where she was born) and he was linked with her new geneticist in London when we moved back to the UK. And this summer he had some news. In the nearly two years since Louisa’s genetic testing they had recently found some other people with the other gene variant (ZNF865- the one with the boy in Denmark, the completely random mutation). All of these patients have similar symptoms to Louisa. It’s crazy. The count is now five – five people in the WHOLE WORLD (that they know of). There is no name for this syndrome – remember we are working with TINY numbers here but with this information geneticists are currently testing the gene variant in a laboratory in Canada with the hope that within the next few years it will be published and recognised as an official ‘thing’. We are very aware that things change and not to get our hopes up too much. We also know that as science is developing we have to have patience. The other thing to note is that if it is proved that this random gene variant is the cause of Louisa’s delays – the situation we are in could have happened/ could happen to anyone.

So what does this mean?

I appreciate that all this information doesn’t actually tell you ‘what’s wrong’ with L. But remember our genes are so important to the function of our brain and bodies. Having a variant of some kind can cause a whole set of problems. And I guess a quick way to explain it is that she has a neurological disorder due to genetic variants. But here is a list of L’s current (and main) issues;

Global Developmental Delay

This is one of the main things that affects Louisa’s daily life. This basically means it takes longer for her to reach certain development milestones than other children the same age. The way I describe it to Fred is that Louisa finds learning tricky, she struggles to learn new things. For Louisa she is delayed in learning to walk and talk (we have started to get better with the walking but we currently have no words), her movement skills and interacting with other people socially and emotionally are all extremely delayed. I cannot leave her for one moment. She doesn’t understand what is dangerous (she will happily climb on the breakfast bar, stand up and walk off and fall crashing to the floor – you may think that’s very similar to your child, but Louisa will do it again and again without understanding that it is hurting her), she has very little concept of what is food and what is ok to put in her mouth and what is not (for example some of the things we have found in her poo would shock you!). Her GDD means eyes have to be on Louisa at all times for her own safety. Other little examples of things she cannot to do – at the moment – are things like playing with toys such as pressing buttons and stacking blocks and she doesn’t understand how to use cutlery so we still have to spoon feed her.

Hypotonia

Hypotonia is basically a fancy way of saying low muscle tone. Louisa has struggled with her tone from very early on, as a baby she was like a floppy rag doll. As she has grown it has meant sitting, standing and walking for example are all a massive effort for her. She is pretty clumsy and falls over all the time whilst also finding it hard to get up. She isn’t able to walk up and down stairs, even a tiny gradient change will have her falling over. Louisa is also ridiculously flexible – we’ve had times when her toes have literally been facing the opposite direction!) . Louisa also finds sucking and swallowing difficult (cue awful feeding difficulties in the early days and currently having to cut her food into tiny pieces and monitor/ stay super close to her when she eats as she has a high risk of choking). For hypotonia Louisa receives physiotherapy, wears SMOs (which are little plastic braces/orthotics strapped to her feet ) and speech and language therapy with a focus on chewing and swallowing (which for her are very delayed). We also massage her regularly and stretch her muscles.

Laryngomalacia and Tracheobronchmalacia

We were first told Louisa had Laryngomalacia (LM) when she was seven weeks old. Her breathing was extremely laboured and she wasn’t feeding and had been classed as ‘failure to thrive’. She snored (still snores) so loudly – but that is actually her airway collapsing as she breathes. For Louisa this is caused by a neurological disorder, the physical make up of her larynx and trachea and bronchi are fairly normal (a little narrow but that’s Louisa all over) but her brain is not sending the signals to make this all work. It’s basically a bit of a floppy mess. Most children outgrow this as they get older and stronger but as Louisa’s is neurological it’s not as simple. Saying that, we have noticed a great improvement in Louisa but she still struggles to eat and gets breathless when doing physical activity. We are very conscious to keep her well as things like croup can be really dangerous for her airway.

Reflux

Louisa continues to have reflux even at three. This is associated with the above airway disorders. She has been on quite a few different medications since she was tiny. We’ve had times when she refused to eat and screamed every time food went near her. NG and G-tubes were on the cards for a long time, for years I had to cuddle her whilst I gave her purées as feeding was just so traumatic for her (she had puréed food up until she was about two and a half – we now have to mush a lot of her food to ensure that it is safe for her to eat). Thankfully she is doing better nowadays and there are less tears at meal times.

Hearing/ sight problems

Louisa has never passed a hearing test. This was one of the first things that made me aware that things were going a different way for her. As a baby she flat lined every test. I found it really scary seeing all these other baby’s having a quick test with a quick beep and that not happening for Louisa. We had so many tests. At 15 months she got her first set of grommets and then she got her second set last year. We haven’t noticed a huge difference in her hearing but the issue is that we are not sure the difference between what Louisa hears and what she is listening/reacting to. For example she will not react to the loudest bang but then will hear the wind outside the window. These tests are ongoing we have more to come to see what kind of conductive hearing loss she has. Louisa wears glasses because her sight issues are related to her hypotonia. She was cross eyed as a baby but that’s because her eye muscles find it hard to stay central.

Insomnia

I struggle with this one. At the moment this is what affects our quality of life as a family. Insomnia makes me want to cry the most right now. I can’t bare it when people tell me they are tired when David and I have literally had zero sleep for the past three years. I know that’s no one else’s fault (you are allowed to be tired!) but it is so hard living with a child who has such terrible sleep and who you can’t reason with or make things better for. We are currently seeing to Louisa nearly every hour. She screams most of the night. No one knows why she screams – is it pain in her ears or her tummy? Is it her reflux? Is it behavioural? We’ve had tests, nothing has come back from these. She has medication to sleep (it’s not working) and we are having a special needs bed being delivered by social services soon so she can be in a safe confined area (with high sides) as when she wakes she currently rolls out of her toddler bed and screams (we moved her from a cot because she was climbing out and falling onto the floor). I won’t go into too much detail as I am wanting to push to see a sleep disorder specialist in London – but you know NHS services/ waiting lists are meaning we are having to try other avenues first.

Ectopic kidney

This is a long old story but I was 36 weeks pregnant we were told that our unborn baby was missing a kidney. It turns out that she wasn’t, but rather her left kidney is upside down/ back to front and in her pelvis. Currently it is working fine – she’s super girl – but we have to keep an eye on it.

Sensory Processing Issues

In the UK they don’t refer to this as a disorder but rather it is known as something that is associated with other things such as autism. But for Louisa her sensory processing problems mean that the world can be a super scary place for her. Loud noises make her cry, and in busy places she needs tight squeezing and cuddles. She doesn’t feel pain like we do which is a major issue as she doesn’t stop doing things even if they hurt her and are dangerous (she will burn herself on the oven repeatedly- if we let her that is!). This is such a big topic that I’ll probably go into more detail at another time because now I’ve learnt more about it (I went on a parent workshop with Louisa’s NHS occupational therapist and it was so interesting!) I’ve realised how sensory processing is important to even mainstream children not on the spectrum.

So these are the things that are currently on our radar. Our main worries for Louisa at the moment are her mobility and her understanding. She is getting bigger and heavier and I have to carry her everywhere. Physically things are getting tougher. Emotionally it can be extremely exhausting keeping on top of the thousands of appointments she has. And let’s be honest, baby proofing your house only really works for small toddlers, not tall three year old girls who can reach knives at the back of kitchen surfaces. Making sure she is safe is our main priority. But you can’t baby proof the real world – especially when you don’t have a baby anymore – so having eyes in the back of our heads is a current must!

This list is not exhaustive.

I feel like this blog post is really long and boring, so if you’ve got this far well done and thank you for reading! I hope it gives you a general idea of Louisa’s struggles and how we are trying to manage them right now. I hope for future posts you will know what I’m talking about from this information. Any questions please ask away!

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