Happy Birthday to Ru!

Runa is now one whole year old!

She has had a fantastic weekend of celebrations, seeing lots of wonderful people and playing with many beautiful gifts.

On Friday (the 1st of Feb, her birthday) her big sister was very excited about given her present and singing to her first thing in the morning. Soon after I took Runa to her hydrotherapy Group. She is such a water baby that she ended up falling asleep in the pool!
Following that, we went home to collect her big sister and headed out for lunch with some close friends. We then headed to a toddler group run by parents of children with additional support needs; a group that has been invaluable to me for moral support.

On Saturday we invited family to the house to have a small gathering to mark Ru’s big first birthday. It was so lovely to see the family who could make it, and the family who couldn’t were missed.

Before we cut the cake I gave a toast, thanking family for their support over the past year. I am particularly grateful to them for their unconditional love and high expectations for Runa. I made a special thank you to Nina for being the best big sister in the world; her inclusive attitude towards Runa will support her to thrive. A special mention was made to my wonderful husband Stewart. Everyone sees me as the strong one who keeps everything moving, but he is stronger than he knows and me and the girls would be lost without him.
The toast finished by being directed to the birthday girl herself. Though her disability has made things difficult at times and triggered some challenging emotions, it is only one part of her. She is strong, bright and beautiful. She is inspiring, loving and, as far as we are concerned, perfect. She makes everything we do completely worth it.

Runa received so many wonderful gifts and a good chunk of them are sensory toys. We are so well equipped with projectors, lights and touchy-feely things, I’m looking forward to integrating a “sensory play” time into her day.

We’ve had a lovely weekend and, though she had no idea it was her birthday (and slept through most of her party), Runa has thoroughly enjoyed herself.

Happy Birthday Runa! We love you so much x

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Reality

Runa is getting put forward for a seating assessment, which will provide her with a very large, structured floor seat. She is coming up to her first birthday and her sitting isn’t where the physiotherapist would have hoped it would be, so more support is appropriate.

Me and the physio had a rather frank discussion about what we can expect over the next year for Runa.

A standing frame to support her hip development and avoid potential dislocation and encourage weight bearing.

An adapted, structured buggy to support her to sit properly whist protecting against scoliosis.

Towards the end of the year, a walker to encourage… well, walking.

Over the next few years if Runa is not going to be a walking child we will start looking into wheelchairs etc.

This brought some difficult thoughts and feelings to the forefront of my mind. I knew this was all coming, I knew this was what we could expect, but it has been quite painful… Pulling the thoughts floating about in the back of my mind and forcing them out of my mouth during a conversation… The reality of Runa’s future is rarely easy to take.

Runa can sit briefly and play with toys in front of her, but her back is very rounded and she does not have the core strength or coordination to stop herself falling over.
Runa can weight bear for all of a few seconds before she gives up.

In my personal opinion, over the past year Runa has met the developmental equivalent of a 4 month old. I feel we will be very lucky if she meets the developmental stage of an 8 month old by her second birthday.

It isn’t a nice thought really, but since diagnosis there has been too much uncertainty and now I feel like we have at least a little more clarity over what to expect.

We can expect continued, slow development and we can expect a lot of physio and occupational therapy equipment. We can also likely expect that Runa will not learn how to walk.

None of this means that I will be giving up. Runa is fantastic, unique and a genuine joy to spend time with. I will continue to work her hard with her physio and give her every opportunity available to develop her skills. She has surprised everyone so far, there could be many more surprises up her sleeve.

The reality facing our future brings a lump to my throat, and in the interest of being kind to myself, I am allowing time for some wallowing in self pity.

But the reality of the present is so much more important. Both of my beautiful daughters need me to face the world head on with them and believe they are capable of incredible things.

Normal Mum and Kid Stuff

It has been a fairly typical day in my life. I had an appointment in the morning, then went to pick up Nina from nursery. We ran a couple of errands; off to the shop to buy a couple of essentials (milk and a colouring book). We then came home, had lunch, had coffee, watched cartoons… Normal mum and kid stuff.

I have wanted to do house work throughout the day, but every time I have put Runa down she has screamed her head off. She is of course happy when I’m playing with her, cuddling her and reading to her. But when I put her down she yells so much it makes her throat sound like it’s about to pop.

But the house work still needs done, I said to myself, putting Runa into her jumpy chair so that I could wash the dishes. She screamed and screamed… And screamed some more. Then, just for good measure she started throwing herself back and forth until I was done.

Of course, another cuddle made everything better. Ten minutes of shaking various toys and singing some songs pacified my little cherub. So I put her on the sofa with some toys and encouraged her big sister to keep her company while I attempted to sort out some of the clutter in the living room. It may not surprise you to learn that she started screaming and crying at me again.

Mothers have evolved to not deal well with their children crying. Instinctively all you want to do is pick the baby up and comfort her, and who am I to argue with millions of years of evolution?

I sat down, put Runa on my lap and cuddled her until she stopped crying and fell asleep. Then I started to cry. How am I supposed to do anything, ever, if she can’t be put down?

So in the interest of instilling some sanity into my frantic mind, I’m sitting her turning it all on its head.

My child, who has developmental delays and brain malformations, understands her own desire to be comforted. She responds appropriately to interaction and will let everyone know how she’s feeling.

My child, who may never crawl, walk or sit without the risk of falling has enough strength in her legs and core to express frustration physically. (testament to her desire to get moving, she desperately tries to sit herself up when she’s reclined. This often leads to face-planting. Which her parents, of course, never giggle at…).

My child is here and I am so lucky to have her in my arms, cuddled up on my chest.

Runa is crying when she wants held… This is not a disabled baby thing. This is not an aicardi girl thing. This is a normal baby thing.

The house work can wait. I’ve wiped my tears and I’m enjoying my Cuddles with the most amazing baby I know. This is normal mum and kid stuff. It may drive me crazy but I love it all the same.

Update: Stewart came home and I managed to hoover the living room!

Happy Old Year

It is the last day of 2018 and what a year it has been!
It has been a year of massive changes and adjustments in the Wyllie house hold. It ferried in the lowest period of my life but has left me with more love and strength than I thought was possible.

No parent dreams of having a disabled child, but the vast majority of parents of disabled children wouldn’t have it any other way. Aicardi syndrome is a horrible condition, but my daughter is wonderful. The syndrome is a part of her and I would not change a single thing about her (apart from the seizures, they can get in the sea).

Having said that, Aicardi syndrome has changed our families future. Me and Stewart always envisioned our future being spent supporting our children through school, university and an array of extra curricular activities. I was keen to head back to university and pursue a career in occupational therapy. We saw our retirement spent in a ground floor tenement flat in Glasgow’s west end, spending days walking the elderly rescue dog we’d adopted to live out it’s twilight years in comfort, and spending our nights propping up the bar at Tennent’s.

Now our future is a little different. It will still revolve around supporting our children to reach their potentials in their own ways. But it won’t be adopting scabby dogs and kicking about the west end of Glasgow.

2018 changed our future, but it changed it for the better. The four of us fit so well together and, despite the occasional tears, we are happy, resilient and full of love.

So bring it on, 2019. Let’s see what you have in store for us.

Progress is Progress

Runa is ten and a half months old now, and this is a significant age for us as Nina was ten and a half months old when she started walking. It stands out in my mind as a specific age where I can see so clearly how delayed Runa’s development is when compared to her crazy big sister.

It can be far too easy to compare Runa to other children her age, and even more so to compare her to her sister when she was her age. As you can imagine, these comparisons can leave me feeling a little bit bitter and deflated.

As ever with my special girl, it is important to focus on how she is progressing and how well she is doing. Given everything that is going on with her (a variety of brain malformations and epilepsy), she is doing so much better than anyone could have predicted.

She is continuing to make steady progress with sitting and can sit unaided for a good wee while so long as something is taking her interest. She is also able to bear weight whilst standing if someone is holding onto her.

Runa giggles, smiles and interacts beautifully. She is particularly fond of other children and men with beards. Though she has yet to develop stranger anxiety, my parents have both noted that she settles much better with me than with them. This is a step in right direction as she used to be just as happy with anyone- so long as she was getting cuddled she was happy.

My girl has a great appetite and will eat anything on offer. She is getting gradually better at putting food in her own mouth and is working slowly towards chewing (rather than only swallowing). She still needs support to hold her cup, but when left to it she makes a great effort to take a drink by herself.

Runa is continuing to make good progress with her fine motor skills and when she’s in the right mood she will grab things very tight. Daddies beard and nina’s hair are solid favourites and she is also fond of knocking down small towers.

Runa has preferences; she loves to look at picture books and will watch TV if the colours are bright or contrasted enough. In her bouncy chair she has a definite favourite direction to face so that she can move the right toy about. She also loves to watch noisy toys (and coffee mugs) move around.

Is Ru doing everything other ten month olds are doing? Of course not, and it would be seriously unfair of anyone to expect that of her. But she is doing fantastically well in spite of everything she has to face. She continues to inspire me, just by being herself, everyday.

Seizures

Seizures make me miserable

Runa’s seizures are very subtle. When she has had them in front of other people,  or people have seen videos of them,  most (including doctors) have questioned if they are actually happening.
Once it was accepted by Runa’s medical team that the seizures were back they were labelled as absence seizures. Reading about absence seizures, I could see why they thought that, however I wasn’t entirely convinced. Regardless, I trusted the experts whilst continuing to record the seizures each time they happened.

Finally once the doctors had a few months worth of filmed seizures at their disposal, combined with me putting pressure on the medical team to confirm that they are absence seizures,  they were in fact identified as focal seizures.

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Runa is trying another medication to try and control these but usually is having one seizure every other day.

I should count our family lucky as so many aicardi girls are having several seizures a day. I am in awe of them and their families for dealing with the heart ache so well,  because one seizure every few days is exhausting me.

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My beautiful, bright and interactive baby loses what makes her Ru.  She stares off to the side,  lips smacking and arm twitching, and she doesn’t seem to realise I’m there. I gently rub her face, wipe her drool away and mutter “it’s OK baby,  you’re alright” but there is no response.
When she comes out of her seizure she is tired and sleeps on me and I cherish these moments; the bad bit is over,  hopefully for another few days,  but I have to wait for her to recover to get the reassurance that’s she’s back to herself.

So far she has always gone back to herself after a good sleep. She returns to her smiles, giggles and everything else that makes her who she is,  and I live in constant fear that one day one seizure will change all of that.

I’m trying hard to learn as much about seizures as possible, which is tricky when my brain isn’t exactly wired in a scientific manner. But I will persevere and fight on. I am determined to become an expert in every aspect of Runa’s condition; this way I can support her as fully as I can.

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In the meantime we’ll see how the new medication goes and continue enjoying Runa’s quirky little ways in between seizures.
She still amazes us every day.

Happy Birthday Dr Aicardi

Jean Aicardi (8 November 1926 – 3 August 2015)

(copied and pasted from various pages)

Jean Aicardi was arguably the greatest child neurologist of the modern era. His name will live on in the two separate conditions that he described, Aicardi syndrome and Aicardi-Goutières syndrome.

Aicardi first described the rare genetic form of epilepsy known as Aicardi syndrome today. This rare epilepsy disorder, that almost exclusively affects girls, is primarily defined by the underdevelopment of the corpus callosum, holes in the pigmented part of the eye, and infantile spasms.

Though Aicardi retired at 65, his official retirement did not stop his life’s mission to help children with neurological problems. He continued his work well into his 70’s at Miami Children’s Hospital and at the Institute of Child Health in London. He mentored many who are now national and international leaders in child neurology.

His legacy is as much in his successes as it is in the success of those whom he taught and inspired.

Runa and Aicardi Syndrome

Runa has the classic triad of Aicardi syndrome: partial agenesis of the corpus callosum, two choroidal lacunae on her left eye and she developed infantile spasms in hospital which are now under control. In addition to this, Ru also has areas of polymicrogyria, heterotopic grey matter nodules and distorted ventricles in her brain. She averages at one focal seizure every other day, has global developmental delays and is missing one set of ribs. She is the happiest, most cuddly, strong and resilient person I know. She is curious, beautiful and inspiring. She makes our family complete, she is amazing ❤️