this is Florence

She is the youngest of three siblings (one brother, one sister).

She’s happy and sociable, with a very sweet tooth, a wicked sense of humour and the ability to befriend anyone without saying a thing!

Those first few weeks passed in a happy if sleep-deprived blur. I can remember thinking that she was taking a little longer to smile than the other two, but it was funny- she could smile with her eyes before it reached her mouth and you could tell she was smiling even before we could get photographic evidence.
A lovely friend Liz had her first baby, Grace, 3 days before Florence, and I can remember becoming increasingly aware as time wore on, that Grace could do things that Florence couldn’t. At the time, I glossed over it, and the phrase

“Comparison is the thief of joy” became somewhat of a mantra.

I kept reminding myself of it, and honestly revelled in the joy of having this beautiful little bundle in our family. That being what it was, I still remember niggling feelings that she really should be doing more than she was, and I wondered what was holding her back. A number of friends just said “oh she’s just a typical number three- really laid back”, and for a while that satisfied me.

It was towards the end of that year- approaching Christmas, when Florence was about 7 months that I sat down one day at the computer and googled “what age should children sit up?” and was taken to a page of developmental milestones, and I realised with a sinking feeling that Florence had missed every one- babbling, sitting up, rolling over, starting to crawl, passing objects from hand to hand.

At that point I wasn’t desperately worried, and I popped along in early January to see the Health Visitor, who was seemed fairly clueless and just asked me if I’d seen a GP.

So I booked an appointment and we went along to see the GP a week or so later. I smile when I think about it now, but it honestly hadn’t even crossed my radar that I might have a child with a physical disability, and I told the GP my concerns and said “I don’t think she’s autistic”, as, bizarrely, that was really the only thing that had crossed my mind.

The GP looked a little confused

and said that she agreed, but that she felt that a community Paediatric appointment would be a good next step. Again, at that point, I didn’t even know that Community Paeds was a department up at the Children’s Hospital- I assumed that there were a few local paediatricians and that someone would come over and pay us a visit.

And I was feeling fairly relaxed about the upcoming appointment until a well-meaning friend told me that her daughter (who was hyper-mobile) was under Community Paeds and that it was OK really- they’d need to rule out things like muscular dystrophy etc, but that the experience was ok. At that point, I can remember the penny dropping that there really might be something very wrong with our perfect little girl, and I started to feel sick at the prospect of what they might or might not find.

A family member who’s helped lots with the kids made a well-meaning remark in the midst of all that that she thought that Florence was going backwards rather than forwards, and I can remember ringing Mum after that, and I was shaking all over and just terrified at what they might find. It was an exceptionally stressful time.

We were put under a wonderful Paediatrician, and started the long old diagnostic process

There were countless forms to fill in and questions to answer about how the pregnancy was, what I’d noticed over the past few months, what our medical histories were etc etc.

Whenever I describe the diagnostic process to people, I use the analogy of concentric circles- all the medical professionals are trying desperately to work out what’s going on, and they gradually sweep away various potential diagnoses whether because the questions answered don’t match up, or because blood tests have ruled things out. I lose count of the various things that were ruled out in those first few months, but whilst they closed off lots of scary suggestions, plenty more were opened up.

In the midst of this, Florence started seeing a lovely Physio, every week or two which was good, because at least it gave me something productive to do with Florence. There’s a horrible feeling of impotence that comes upon you when you have a child who isn’t developing as they should be, and having the physio exercises were a great joy because they enabled me to feel as though I was at least doing something. We saw our paediatrician again, about 3 months later, and though some things had been ruled out, she remained concerned about Florence’s lack of development.

At this point, Florence was given the label “Global developmental delay”- a sort of catch-all title to say that she wasn’t developing as she should be

and we were next referred to neurology, and told that she’d need a brain scan under general anaesthetic.

At this point I can remember being really frightened. The brain is just such a vast landscape, and when people start talking about your child needing to see a brain consultant, it feels very serious. I can remember coming out of the appointment when they told us that we needed to see neurology and have the brain scan, and Al and I just cried. We were so frightened. The previous summer I’d known someone who’d lost her 5 year old son to a brain tumour, and I was just terrified at what they might find.

The thing you don’t realise at the beginning of this journey is how much of this is just a big waiting game. I naively expected that we’d be referred and see someone a few days later. Now, 6 years on I have a very different expectation- and I now tend to be pleasantly surprised because I expect everything to take months and months! We saw the neurologist within several weeks, and he was wonderful, and ever so experienced. He agreed that Florence needed a brain scan, and sent the referral off for it. In the meantime he suggested that perhaps it was Rett syndrome, so we duly went off, googled it, and prayed fervently that it wasn’t that.

The day came round for Florence’s brain scan, and the weather mirrored the day- it was slashing with rain, and dark and grey. We were due to go camping with the church the next day so we hoped that it would pick up! It’s fairly horrible having to make your child fast, and yet Florence was remarkably good-humoured about the whole thing. The other two were with Grandparents for the day, and there was a lot of sitting around and waiting. We’d been told Florence should go in first, but then there was a child who had behavioural problems and so she was bumped down the list. I was going to take her down to the MRI, and Al was going to come and pick her up.

Having her put under general anaesthetic was incredibly traumatising,

because, despite having put the amitop cream on her hands and feet, they used the mask to put her out, and she was very upset by that, and it felt like suffocating her. And no sooner had she gone under, she was whisked away and I was led back to the ward, with a nurse chattering, and probably trying to make sure I didn’t give in to the tears that were in my eyes.

We’d not been told how long we’d have to wait, and it felt like forever. When we finally got the call to say that one of us could go and pick her up, we were so relieved, because rather than the half hour we’d been expecting, it had rather been about an hour and a half, and the mind can be a formidable place when you’re waiting! We knew we wouldn’t get any results on the day, so were expecting for Florence to come back, and for us to leave once she’d come round properly. Al went off to pick her up, and my heart leapt into my mouth when he came back, flanked with the neurologist, and several other professionals, and he came and asked us if we could go and speak in a side room.

The next few minutes passed in a surreal haze – I remember feeling like I was in a film

The neurologist just said that the brain scan had shown something worrying. There was far more white matter than there should have been. Not being an expert in neurology, this meant nothing to me, and he explained that it looked as though Florence may well have something called Metachromatic Leukodystrophy.

No warning bells rang, as we’d never heard of it, but upon asking, he said that this was a degenerative disease, not unlike MS, whereby the myelin in the brain would essentially disintegrate and leave Florence progressively unable to do anything, until it progressed to such a stage where she would die. They told us that this was not definitely the diagnosis, and that they’d need to bring us in on the Monday to get some specific tests done which had to be done on a certain day of the week in order to send the blood to Great Ormond St, one of few centres in the UK which did this particular test.

Having ascertained that there was no cure, and so putting off the test by 2 weeks so that we could go on our church camp and family holiday would in no way detrimentally affect Florence, we made the decision to wait. We both have a firm faith, and wanted to be in an atmosphere of faith at that time, and felt something within our spirits that said that this was not the word over Flo’s life.

That said, the waiting process was properly hard. There was a fight to hold on to a positive frame of mind, and between the scan date and the day we got a letter with some results, there were seven long weeks. And then one day, this little unobtrusive envelope arrived on our doormat stating that there was no evidence of any leukodystrophies, and just like that, that door was closed.

They also gave Florence’s condition the working title of “Static dismyelinating disorder”- static, as in, not degenerative (hurrah), and dismyelinating- the myelin sheaths cover all of the motor nerves in our brain, ensuring that messages get sent from the brain to the muscles and back again without disruption. For whatever reasons, Florence’s myelin is faulty or not formed properly, so that interrupts all of the movement messages.

Whilst this was going on, we started seeing an OT and were furnished with such brilliant things as a Leckey chair at home, meaning Florence could now sit in her own ‘high chair’ and no longer had to eat her meals on my knee. But we also had a whole host of other appointments- ophthalmology, orthoptics, optometry, audiology. We went to the Orthopaedic Centre to get fitted for a wheelchair/buggy, and also saw orthopaedics there for hip X-rays.

When Florence was 2, she went through a period of having cyclical fevers, so briefly we were also under the GP, Renal consultants (because it seemed they were UTIs) and infectious diseases! Thankfully none of that has continued.We also started seeing several Speech and Language therapists. These looked at various ways to help Florence communicate, and also assessed her feeding and drinking. I found the latter exceptionally stressful, because they involved

scrutinising how you were feeding your child, and if anything wasn’t as it should be, it was totally your fault

It was hugely exciting starting to explore different ways to help Florence communicate. As a parent I think you always have ways of working out what your children want, and we had all sorts of ways of reading Florence, but our horizons were hugely expanded.

Even down to the simplicity of making choices using one hand or another, down to the now much more complex world of eye gaze computers, PODD books (a low-tech eye gaze book where Florence looks at various pictures to show what she wants). With this, we also started having sporadic appointments at the ACE centre, a centre for alternative communication, where they advise you on next steps in alternative communication. Alongside these things, we also explored neurodevelopmental therapy (privately) which involved brushing Florence with a paintbrush.

After 18 months of that we decided that we couldn’t see much change, and so discontinued that, but have since done oro-motor therapy once a month for a year or so, which is essentially mouth physio, and we’ve seen huge changes since starting this- drinking with a straw, starting to be able to move her tongue in different ways, stronger jaw, more ability to chew etc. When Flo was 2.5 we also got referred to Robins, a wonderful PD playgroup that runs once a week on a Thursday.

This was a real lifeline to me, because at this point I had literally never met another Mum who had a child with a disability

and whilst I had other children without ones, it would often feel like a very lonely walk. I used to hate playgroups that I’d previously loved, because they just highlighted quite how big the gaps were between Florence and her peers. I’d go along, and we’d inevitably end up in the baby corner because she couldn’t access the other activities very easily, and people would strike up conversation and then not know what to say when they found out how old Flo was.

I left several very quickly in tears. Robins couldn’t have been more different- for the first time we were in a setting which was all geared around being accessible and helping kids with PD. And for the first time I made friends who understood the journey I was on. All of our walks were very different but it didn’t really matter- there was a common thread that united us and there was deep understanding. It was so invaluable. And Florence used to love it so much- she was so happy when we went there, played with toys, did crafts, sang songs and did plenty of physio along the way. Two of the mums I made friends with there stay very close friends now, and we meet up every couple of months for a meal or a cinema trip

When Florence turned 3 she started at our local preschool- the same one that our other two children had attended. There wasn’t a doubt in my mind that it was the right place for her, as it was the most wonderful nurturing environment. And we weren’t disappointed, they duly appointed the wonderful Anne as her 1-1, someone who had lots of experience teaching at a special school, but who had more recently been volunteering at the preschool.

Florence loved it from the very first time she arrived there

I’d had concerns about how she would make friends, but I needn’t have worried as she seemed to have friends everywhere she looked, and would always have had the most fabulous days. I was blown away with how easy it was to integrate someone with such profound needs, and how she was never treated any differently to the other children, save having a lot more input and visitors!

I was also so touched by how accepting children are naturally. No one really thought anything of the fact that Florence was in a wheel chair. They asked questions, and were keen to know how to communicate with her, but there was never an unkind thing said. We’re still under Community paeds and neurology, which involves biannual appointments checking in and seeing how things are going. We also excitingly shed the title of Global Delay, because it was decided that Florence was making enough progress with her cognitive functions that she was now firmly under the ‘PD’ umbrella rather than the more vague GDD.

I’m often struck by how embarrassed parents are when their children ask really unsubtle questions about Flo- like “why can’t she talk?” or “Why’s she in that chair” and I’m a passionate believer that if kids are able to be inquisitive and find out, then it will only be a good thing. We usually explain it that Florence’s muscles don’t really work properly, which includes the muscles in her mouth, so she can’t speak much,

but her eyes are very clever and she can talk with them instead!

One of the challenges of parenting is guilt. I’m sure any parents in the room can identify with this- guilt that you’re not spending enough time with them, guilt that you’ve spent more time with one child at the expense of another, guilt that you’ve given them unhealthy food or not made a swish enough costume for world book day or something.

Being a parent also of a child with a profound disability, I’d say the guilt is even more of a challenge- in the first instance- guilt that maybe I’d done something when I was pregnant to cause Florence to have the challenges she had, guilt that I’d not done enough tummy time when she was a baby, etc. And that continues to be a challenge back and forth. On any given day, Florence needs to do lots of physio (plenty can be incorporated into her day at school or home without too much hassle), she needs to practice with her PODD book, we need to do the Oro-motor therapy exercises, and to have a go on her eye gaze computer.

She’ll also want to go in her walker, and possibly drive around in the garden in her Zippie (electric wheelchair). Oh, and she’s a normal 6 year old so she wants to watch TV and play games. Alongside that, you need to give your other children attention and somehow keep up with the laundry and cook dinner. I don’t find that on many days I’ve ‘hit the mark’ and so guilt can be a daily challenge to keep in check. In terms of other challenges we face, having a child with a disability- this year we moved house. I’m so happy that we did, as I love our new house and it works so well for our family. However, we had no desire to move.

I often joke that I’m Florence’s PA, but there is more than an element of truth about that. Some weeks, there’s nothing extra, save all the physio, oro-motor therapy, eye gaze etc. Other weeks, we have three appointments in a day and several days a week.

Take last Wednesday, for example- we had a 2 hour meeting in school reviewing Florence’s eye gaze computer, followed by dashing home to make the second hour of a 2 hour discussion/walk round and round our house to come up with the best solution for sorting our house. Florence had in-school Physio, and then after school we got home, had our snack and then had a meeting with the physio and a rep from a company to advise on sleep systems to keep Florence’s legs and hips well aligned as she sleeps.

Another thing about having a child with a profound Physical Disability is the grieving process you go through. During the diagnostic process, I remember praying- “God, please don’t let this be degenerative. I can do anything but I don’t think I can do degenerative”, and it wasn’t.

And I hold to that – this is totally doable

But it does come with grief- I feel grief that I can’t hear all of the little ramblings of Flo’s 4 year old mind, or that she can’t run around in the garden or learn to do the monkey bars with her siblings. I grieve that when we go on a family walk, we either have to carry her in a sling (which is becoming increasingly difficult) or go an ‘accessible’ route; or that simple play dates don’t really work, because she can’t play in the same way as other children.

In terms of today- what Florence can and can’t do, she is not at all mobile. She also can’t sit up unaided for more than a few seconds (though she’s constantly getting better at that!). She can’t speak… much! Though daily she’s trying to say more words! She has to eat things with a mashed consistency, and drink thickened fluid. Essentially, Florence needs help for everything that she does- whether that be getting dressed, eating, toileting or playing.

And this takes its toll physically- it is increasingly difficult to carry her around all the time, though I’ve got a very strong left arm now! And I do find that I find it physically draining. And yet the joy Florence brings to our family defies belief. Our whole family will go to silly extremes to do things that make Florence laugh because it’s so infectious hearing her cackle

I regularly come in, in the morning to find one or both of her siblings cuddled up with her

playing a game with her cats, or laughing away at something or other. Flo currently has a trick that she thinks is hilarious, and when she’s sitting on her loo seat, she can reach the loo paper beside her, and she likes to push it down so that the whole roll is on the floor. If we’ve strapped her in, and gone off to grab something, we can hear from another room in the house that the roll is all on the floor, because she’s laughing so hard.

Florence will spend as long as possible in her walker, and her FAVOURITE thing to do is to whizz down the ramp from the kitchen into our conservatory! And she’s completely obsessed with our cat, and any other cats she can see. She’ll interrupt every situation with a very loud “gaht” when she sees one. I firmly believe that having a sister with a PD has been amazing for Élysée and Poppy too. They are kind and attentive to her, and it’s taught them about nurturing someone else, and putting others above themselves.

I can honestly say that neither of them has ever been intentionally unkind to Flo, which given how siblings can be, is amazing

Though it is in no way without cost- they don’t often have time alone with me, and are very used to having to fit in with Flo’s needs. It’s changed our whole family, and I think, changes the wider spheres that we move in- our extended family, preschool, school and church.

I would never in a million years have chosen this walk. Who’d choose for their child to have a disability? And yet I wouldn’t change Florence for the world. She’s taught us all so much about the value of life. In a world where independence and ability is prized, I’ve been given the gift of a child who teaches us that she is infinitely precious in who she is, not in what she can or cannot do.

I wrote the majority of this a couple of years ago, by which time we hadn’t received any formal diagnosis. At the time, I completely assumed we never would, and yet in the post about 18 months ago, a letter arrived from the geneticist, booking us an appointment. I didn’t think much of that, and went along (we have a lot of appointments) and yet she sat down and said that they had a diagnosis for us.

I’d never heard of “Aicardi-Goutières Syndrome” before and went home and googled as much as I could find

It can look like a very scary diagnosis, and indeed for many it is. And yet I’m incredibly grateful that our journey no longer seems to be a scary one.

Florence (now 6.5) is medically very uncomplicated. She eats and drinks food that has been adapted for her lower levels of oro-motor control, and she takes laxatives, but other than that she rarely gets ill and when she does, seems to handle it well. She is in a mainstream school and communicates amazingly well through a Tobii eye-gaze device. All the many seemingly thankless hours working on a low-tech communication book started paying off almost overnight when we got this device, and the last 18 months have seen a staggering growth in communication.

She can articulate what’s wrong and what she wants to eat. How her day was at school and what she wants to play with. Her most recent things have been naming her cuddly toys, requesting cold showers (!) and trying to extract chocolate from us whenever possible using her device and her fluttering eyelashes! We are mid-way though a building project at home which will make our house fully accessible, which will be amazing for my husband and my backs (I have got ongoing low-level complaints due to the enormous levels of lifting and carrying we still need to do day to day).

Florence is coping brilliantly at school and has made lots of friends

It can be a real challenge keeping up with the work, and in particular, adapting things to be accessible to her can be very hard. The team of people who support her are amazing and never cease to go above and beyond. There are so many other things I could mention but the time doesn’t permit me to currently.

Our AGS diagnosis has been another landmark on a journey, but ultimately has changed nothing, besides having other people’s brains to pick, and gaining other friends on parallel journeys.

Florence always was, is, and will always be Florence