Corpal Family Event

On Saturday the 14th of September Corpal held its first Scottish event. I’m very proud to say, as a trustee, I was heavily involved in the organisation along with fellow trustee, Rachel and charity administrator, Jean.

What is Corpal, you ask?

http://www.corpal.org.uk
Corpal is a charity that supports families and individuals who are affected by agenesis of the corpus callosum (ACC) and Aicardi Syndrome. It’s a small charity that aims to raise awareness, connect families and provide support and information.

Corpal is a charity that I found via Google when I was in hospital during Runa’s diagnosis. Me and Stewart were told to “do your own research online, we don’t know a lot about the condition.” So we did.
Once the dust had settled and we were home, getting on with life with our beautiful quirky girls, a message was sent round asking if anyone wanted to become a trustee for Corpal. I knew straight away that I wanted to get more involved and put my name forward.
Fast forwarding several months saw me and Rachel (the Scottish ACC contact and fellow trustee) looking for venues, finding caterers, hunting down raffle prizes and searching for entertainers.

How did the day go?

As far as I am aware everyone took something positive from the day. It was well attended and everyone seemed happy, comfortable and confident to connect with other parents and families. We were incredibly fortunate to have two doctors and a scientist to speak with the families one-to-one about different aspects of the brain and behaviour. We also had an awesome entertainer, Magic Ian (www.magicianedinburgh.com) who had the children and parents engaged and laughing.

Throughout the day several different families pointed out how glad they were that this event had been organised- most often events are down south and therefore not necessarily accessable for families north of the border. I feel genuinely privileged that I could be part of an event that Scottish Corpal families had all wanted for a long time.

All the Prizes!

We were grateful for the generous gifts for our raffle and a tombola. We had a beautiful art print from Urban Cuckoo (www.urbancuckoo.co.uk), two tickets to Glasgow science centre, a gift set from caffe Nero (Stirling), a fancy ukelele from Runa’s grandad, a book from Usborne books; provided by representative Charley Clover, and many other lovely donations from friends, family and attendee’s on the day. Although I messed up the raffle in typical Keren fashion (I threw away a few strips when I wasn’t supposed too) everyone was very forgiving and lots of people went home with lovely new belongings. In addition to this my step-father-in-law held a silent auction for a photo session which went to a happy winner.(www.kenreidphotography.com)

Aicardi Syndrome and Corpal

Corpal supports those with ACC and Aicardi syndrome which are both rare conditions. (To see how one relates to the other see this post https://wp.me/pa00Wr-3X).

It is estimated that 1 in 4000 people have ACC. It is thought that world wide there are around 4000 people with Aicardi syndrome in total. Most families that attented on Saturday, naturally, were affected by ACC, but one other family was there that had an Aicardi warrior in their midst.

Sara is 31 and I met her with her parents Tam and Liz and her sister Clayer. I was so happy to be able to able to speak with them, listen to their words of wisdom and see how resilient, happy and full of love they were. It was very inspiring to be able to speak with them. In Scotland, to the best of my knowledge, Runa is the youngest girl with Aicardi Syndrome and Sara will be the oldest. It felt quite special that they were in the same room together.

Thank you’s all round!

A huge thank you to Jean and Rachel, I feel like we made quite the team!

A massive thank you to all of the families who attended, it couldn’t have been a success without you.
Thank you to magic Ian for his great show and thank you to all the k,ids for getting involved and taking part.
Thank you to Rachel’s mum, my husband, my mother-in-law and sister-in-law for making tea and coffees, running the tombola and selling raffle tickets.
Thank you to the Costorphine Astoria Centre for letting us use their venue at a generously reduced rate, it was a great space to use.
Thank you to everyone who donated prizes and funds for the day. And a special thank you to Charley Clover, the usborne representative. Not only did Charley donated a raffle prize, she also ran a pop-up shop and donated 10% of her earnings that day to Corpal.
My most hearty thanks goes to my beautiful Ru, who inspires me every day and without her I wouldn’t have been involved with this great charity or this brilliant event.

Let’s see it we can make it all happen again next year!

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Polymicrogyria for Dummies

Today is polymicrogyria awareness Day in the UK. Polymicrogyria is one of the brain malformations that Runa has and in the interest of raising awareness I thought I’d put together a quick “what is…” For those who don’t know..

What is polymicrogyria?
A brain abnormality which means that the folds on the surface of the brain are smaller and more numerous. It’s actually right there in the name; many (poly-) small (micro-) folds (-gyria) in the surface of the brain.

Who is affected?
It is unknown how prevalent polymicrogyria is but it’s not overly uncommmon.
Polymicrogyria is usually an isolated feature (ie the only condition that individual has) but it is also often found in people with other conditions and birth defects such as Adams-Oliver syndrome, Galloway-Mowat syndrome, Joubert syndrome, Zellweger spectrum disorder and of course; Aicardi syndrome.

How does it happen?

The cause is widely unknown, but polymicrogyria happens while the brain is developing before birth. Researchers have identified some environmental and generic correlations. Environmental can include infections during pregnancy or lack of oxygen to the developing foetus and genetic causes can be due to mutations in certain genes and other things I’m not quite intelligent enough to understand

What are the symptoms?
Polymicrogyria most often causes epilepsy, delayed development, crossed eyes, problems with speech and swallowing, and muscle weakness or paralysis. There is the potential that symptoms are so mild people won’t realise they have the condition and only find out during MRI testing for something else.

Polymicrogyria and Ru
Runa has bilateral polymicrogyia on the frontal lobes of her brain and potentially on her left partietal lobe. This combined with the partial agenesis of her corpus callosum and grey matter heterotopia means that Runa has epilepsy, significant developmental delay and low muscle tone. Despite this though, she is sociable, happy, resilient and just the most wonderful human being to spend time with.

For more information about polymicrogyria any of the following links are good sources of information:

https://ghr.nlm.nih.gov/condition/polymicrogyria

https://rarediseases.info.nih.gov/diseases/12271/polymicrogyria

What is Polymicrogyria?

A Step Forward

Adaptations! We are now a house full of adaptations. Runa has long had her wonderful Leckey Squiggles seat, but she now has a Leckey Squiggles standing frame and a Shuttle Discover pram (no, we’re not launching her into space). We are slowly running out of room in our house and we still have a walking frame and a bath seat to look forward to sometime in the future.

The standing frame will support Runa’s hips to develop normally whilst giving her the opportunity to bear weight- not to mention a variety of other benefits. She needs to be in the stander for an hour every day, which so far is hit or miss. If she is lavished with undivided attention while she’s in the stander she’ll last the whole hour…But otherwise, not so much. For the remaining 23 hours of the day our new kitten is very grateful to the NHS for giving him a comfy place to sleep.

Runa’s adapted pram is excellent. It’s big, robust and comfortable. It’s taking me a while to learn how to drive something that big around shopping aisles but we’re getting there! I’m looking forward to getting out and about with it as much as possible!

In other news Runa is unfortunately having several seizure like spasms over the course of every day, but at the moment they aren’t affecting her mood or development. In fact, developmentally we have had a little step forward! Runa is getting far more active, lying with her legs up in the air (engaging that core!), rolling onto her tummy from her back and even spinning herself head-to-toe in bed! Many of our close friends and family have pointed out how alert and engaged Runa has been recently and, though it is slow and quirky, it is clear that her development is indeed moving forward.

We’re in a bit of a blissful bubble at the moment. Runa is happy, Nina is excited about starting school and Eric (the aforementioned kitten) is adding some much needed testosterone to the house hold so that Stewart is feeling slightly less outnumbered. We are grateful to the NHS and the council for accommodating our growing arsenal of disability equipment and we are endeavouring to not focus on what could happen if the seizures decide to get bad again.

https://www.leckey.com/about-us
http://shuttlediscovery.com/parents

DoCC Awareness Day

Today is Disorders of the corpus collosum awareness day! (DoCC) Today is the perfect day to learn all about the corpus collosum and what happens when things develop in a quirky manner. So firstly, a reminder of what the corpus collosum is…

A DoCC can include agenesis (complete or partial) of the corpus collosum. This is a key diagnostic feature of Aicardi syndrome.

Through this blog I share a lot about my little Aicardi warrior and I like to think that I’m doing my part to raise awareness about Aicardi syndrome (and in turn, one condition associated with DoCC).

Runa is strong, beautiful and inspiring. Despite missing part of her brain, having malformations throughout other parts, facing seizures and lots of hard core medication, she continues to learn at her own pace. She smiles often, sits occasionally and she is getting better at chewing her food every day. She is affectionate and babbles happily to anyone who’ll pay attention to her. She is loving and loved.

Today I would really like to share the experience of two other families who have daughters with Aicardi syndrome. They have kindly shared their stories with me.

Fynleigh lives over the pond in the States and here’s what here parents had to say:

“Fyn was born without a corpus collosum. She had her first seizure at five days old. She was also born with three benign brain tumors. She was diagnosed with Aicardi at 18 months old. Two of her three tumors have been removed. One of them ballooned to the size of a tangerine. It was one third the size of her little skull. Fyn needed six blood transfusions to survive the surgery. On the 22nd of July she has an MRI to determine if we need a third brain surgery.

Below is our favourite picture of Fynleigh. She was sitting all by herself for about seven months. The seizures, for now, are under control.

Maybe we can get this ability back. Growth, like everything else, is a challenge for the Aicardi girls.”

Evie lives over in Ireland and her mum shared this about their life together:

“One thing that I think it is difficult for other people to understand is just how absolutely heartbreaking and terrifying seizures are. When you are holding your daughter and whispering to her that everything is ok knowing that you have no idea if everything is ok, it’s truly heart wrenching. They are without a doubt the most horrible thing. You think you have the medication right and you have some control and then just out of nowhere they appear again. Sometimes you can go for days without seeing a seizure type and you get your hopes up just to have them completely dashed. It makes life extremely frightening for the entire family.

When we got Evie’s diagnosis, we decided that day that we would always remain positive and surround her with good people who had the same attitude to us. We said on that day that we have all the time in the world for Evie and no one is in a hurry where she is concerned. We never say that she can’t do something we just say that she doesn’t do it yet. Her diagnosis is scary as we were told that basically no one can say what the future holds. Instead of letting this overwhelm us, we focus on small things and finding joy in the everyday things that other people might take for granted. Evie’s bath time is the highlight of our day, her swimming lessons the highlight of our week. The first time she went on a swing on her own we were all in tears (apart from her – she was laughing!).

We have learned to live in the moment and instead of worrying about what tomorrow brings we focus on enjoying everything we have today. Of course, Evie makes this easy as she is always such a joy to be around.

Something else we learned was how lucky we are to be surrounded by family and friends who love us and who love Evie and who are willing to drop everything to help us out. I think that our relationships with our friends and family have been so strengthened by Evie. She just brings everyone together and brings out the best in people.

Every day I am so proud of Evie. She fights more than anyone I know and makes everyone laugh more than anyone. She is the light of our lives and we are so blessed to have her.”

Aicardi Syndrome is challenging. As you can tell, we all have our highs and lows, but what is also apparent is how much we, as parents, adore and love our daughters. We will advocate for them every step of the way, just as parents of other children with a DoCC will.

As always, sharing a blog and raising awareness here and there are only small steps. But these
small steps lead the way to more people recognising and understanding the conditions. This can lead to more research and a better quality of life for our children and for children in the future who are born with these conditions.

Thank you to Evie and Fynleigh’s families for sharing their story and thank you readers for your support.

More information a about Agenesis of the corpus collosum (ACC) can be found here :https://nodcc.org/corpus-callosum-disorders/

A Step Back

It feels as if things have gone a little bit backwards as of late. The seizures Runa’s been having have actually been infantile spasms (why it took the doctors three months to identify them is beyond me) so she is now on a round of steroids. Just like this time last year.

Runa’s eyesight isn’t as on the ball as we all thought and she is now the proud owner of adorable glasses. This time last year she was sporting eye patches.

Runa’s mood has generally made it difficult to work on physio and fine motor skills recently, so this is another way we feel like we’ve had a bit of a step backwards.

It can be so easy to get caught up in the negatives and focus on what Runa isn’t doing. I’m missing the curious look in her eyes when she sees different toys, her cheeky smile and a solid night’s sleep. It will likely be a good few weeks, if not more, before she’s back to herself. So in the meantime I will celebrate the little victories.

Ru has been weight-bearing for a few more seconds than she used to. Her core is getting stronger when she’s sitting in her new seat and she’s starting to chew her food a little better.

Runa is awesome. A grumpy stint of adjusting Meds and any amount of seizures won’t change that. I look forward to the day when her beautiful smile is back on her face. Until then I will take pride in every little triumph she accomplishes.

It’s been a year.

Today marks one year since Runa’s first seizure. It has been a year since we went into hospital, not knowing what the hell was happening. One year since we effectively said goodbye to the daughter we thought we had and begun to learn who she really is…

It was scary. It’s a time in my life that I tend to avoid thinking about as it brings back painful emotions that I still feel like I can’t process. One year on and Runa is doing so much better than we were told to expect. She is cheeky, curious and so loving and loveable. I am not sad about who she is because I love that crazy girl with all my heart.

But despite the fact that she is doing well (other than clusters of what I believe are myoclonic seizures, which we’re currently trying to get under control), and despite what a super star she is it doesn’t take away the trauma of what we went through this time last year.

Going into details about the hospital is very difficult. I can say that Ru had a CT scan and MRI and a very intense clockwork-orange style eye exam. I can tell you I had panic attacks and cried a lot. What I can’t tell is how I feel when I hear an ambulance go by or what I feel when visit the hospital now. I can’t talk about the specific memories that float around in my head when I’m trying to get to sleep at night. I can’t tell you what it felt like when I thought I wasn’t going to leave the hospital with my daughter.

I know this is very heavy but for so long it has been taboo to talk about our feelings and to explore mental health. There’s been shame, embarrassment and fear about sharing how you feel incase you’re seen as an unfit parent or a crazy person.

I’ve had a stint of therapy which supported me to face the changing circumstances following Runa’s diagnosis. Now I am seeking therapy to support me to come to terms with the trauma I experienced this time last year. There should be no stigma about me sharing this and I encourage other people in my position to do the same (not necessarily on such a public domain but with the people you love and with a doctor).

I realise this is a very sad blog post to read, and if you are a friend or family member it will probably feel quite raw. But if you don’t know me and you have been through something similar, please don’t feel alone. Please feel brave enough to seek help and speak to doctors. Please take care of yourself so that you can take care of your children.

Please take care of yourself, and I will endeavour to do the same.

Granny Mary

It’s been a funny few months. It’s slowly edging towards the year mark; one year since Runa was first admitted to hospital. I had intended to mark the occasion by doing something positive to take my mind off of the sad times, planning to raise money for Glasgow children’s hospital by doing a sponsored bungee jump. Instead I decided to throw myself down the stairs (hurting my back, actually happened a couple of months ago and I’m still not 100%)… And I then decided to throw myself off of a treadmill (snapping my pinky in half. Literally). So raising money by doing anything physical has been a little off the cards.

As much as this endless line of injury has dampened my spirits, it has been much overshadowed by a very sad loss in my family. At the end of April we had to say goodbye to my strong, beautiful and fiercely stubborn grandmother. Nina and Runa’s Granny Mary passed away after fighting against cancer for a fair number of years and it is heart breaking to lose her.

My granny had so much love for my children, she had such enthusiasm for being a great-grandmother and I am so grateful for that love. I am particularly thankful to her for the wonderful high expectations she had of Runa. She was determined to support Runa in anyway she could and saw her for the perfect girl that she is.

Nina was particularly close to her Granny Mary and it is hard knowing that she’s missing her. Nina was very lucky to spend many weekends and several holidays with her great grandmother. She will have wonderful memories that will always be with her.

At my granny’s funeral, donations were raised in her name which are going to be donated to three charities. One of the charities included is Epilepsy Scotland.

It’s a difficult time just now; reflecting on this time last year, missing my granny and generally trying to keep myself from breaking any more bones. I may not be raising money this year, but I am so proud that my granny was able to give her support, despite the painful circumstances.

I will endeavour to be accident free for this time next year and try to raise some money for charity next May. Until then, I’ll leave you with the passage I read at my grannies funeral. A passage I adapted from The Wind in the Willows, which me and my mum read to her during her final days with us.

A change began slowly to declare itself. The horizon became clearer, field and tree came more into sight, and somehow with a different look; the mystery began to drop away from her.

The light grew steadily stronger, but no birds sang as they were wont to do at the approach of dawn; and but for the heavenly music, all was marvellously still.

On either side of her, as she glided onwards, the rich meadow-grass seemed that morning of a freshness and a greenness unsurpassable. Never had she noticed the roses so vivid, the willow-herb so riotous, the meadow-sweet so odorous and pervading. Then the murmur of the approaching weir began to hold the air, and she felt a consciousness that she was nearing the end.

In midmost of the stream, embraced in the weir’s shimmering arm-spread, a small island lay anchored, fringed close with willow and silver birch and alder. Reserved, shy, but full of significance, it hid whatever it might hold behind a veil, keeping it till the hour should come, and, with the hour, those who were called and chosen.

Slowly, but with no doubt or hesitation whatever, and in something of a solemn expectancy, she passed through the broken water and moored her boat at the flowery margin of the island. In silence she landed, and pushed through the blossom and scented herbage and undergrowth that led up to the level ground, till she stood on a little lawn of a marvellous green, set round with Nature’s own orchard trees.

‘This is the place of my song-dream, the place the music played to me,’ she said.
Then suddenly a great Awe fell upon her, an awe that turned her muscles to water, bowed her head, and rooted her feet to the ground. It was no panic terror— indeed she felt wonderfully at peace and happy.

She heard a whisper; ‘Are you afraid?’

‘Afraid?’ she murmured ‘O, never… never.’