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/

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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.’

Got milk?

Me and Runa have now come to the end of our breastfeeding journey! Anyone who knows me well knows that breastfeeding is important to me and it has been an experience that I have cherished with both of my children. As much as it is emotional that we’ve now finished, I also feel like celebrating the accomplishment.

I’ve recently been in touch with a researcher from Ulster University who is collecting stories from mums who have experience breastfeeding a child with a complex medical condition and when speaking to her I was able to reflect on all of the challenges that came my way with Ru.

(Now before I harp on, I want to say I support any mother’s choice with how they feed their children. I am passionate about breastfeeding, but that is not to say I judge anyone who has made a different choice. If I come across a bit sanctimonious or pushy with my views it is accidental. This is about my family, no one else’s.)

So, whilst reflecting on mine and Runa’s breastfeeding journey (I recognise that that is a cringe worthy expression, but I’ll keep using it anyway) I realised that I am indeed incredibly proud of myself! There were various obstacles that we had to overcome and by sheer will and determination I pushed past them and I feel fairly smug at this achievement…

Obstacle 1: Undiagnosed Developmental Disability

Aicardi syndrome causes significant developmental delays and is linked to many problems with feeding. When Runa was born we were blissfully unaware of her rare genetic condition. To start with, Runa was very tired and reluctant to latch onto my breast. Runa was given a few mouthfuls of formula by a midwife then quickly slapped onto my breast once she’d started sucking. We’d finally got started, but it was a good couple of months before we were completely set.
Runa also wouldn’t keep her airways clear and I regularly had to push my breast away from her nose so that she could breathe. At the time this did seem weird… And with the benefit of hindsight I now realise this was indeed weird.

Obstacle 2: Mental Health (or lack there of)

When Runa started having seizures and was diagnosed with Aicardi syndrome I was very low. (you can read more about that here if you care to; https://mystrongru.wordpress.com/2018/09/12/five-stages-of-grief/ ). It was recommended that I move Ru onto formula to give myself some respite and take care of my mental health. I was tempted. I was scared, frantic and part of me wanted someone else to take on the responsibility of caring for Runa so that I could get to grips with this overwhelming situation. Luckily there was a rational voice deep inside my mind that knew I’d regret that choice. I knew that if I relinquished that responsibility, no longer feeding my daughter in a way that had always been so important to me, it would have been too easy to push Runa away and build up barriers. I feel breastfeeding contributed greatly towards saving our bond during a traumatic time.

Obstacle 3: ‘Roid rage

When Ru was put on steroids her hunger was insatiable. I was feeding her constantly, at times more than once an hour, and it was both physically and emotionally exhausting. While we were still in hospital the lovely nurses sourced me a breast pump and my very kind sister in law gave me some of her expressed milk, but other than those three or four bottles it was all me. Once we left hospital it was much the same until she started weaning off of the steroids. Though it was challenging, it felt so worthwhile to be able to give her breast milk. My tiny baby was being pumped full of big, scary drugs and through it all I was able to provide her with the best food possible.

Through the various challenges I persevered and, as I say, I am very proud of myself and my girl for making it past the year mark for nursing. Though it has been challenging, the majority of our breastfeeding journey has been truly lovely. It has supported our bond through the tough times and it is certainly a period of our lives I will look back on fondly.

So Yay me! And Yay for breastfeeding!

Rare Disease Day

Today is rare disease day. I warn you now this post has a lot of information stolen from other pages (all links at the end, naturally). So… “A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.”

My beautiful little rare person is of course Runa who has aicardi syndrome. To put her rare disorder in perspective; “Aicardi syndrome is a very rare disorder. It occurs in about 1 in 105,000 to 167,000 newborns in the United States. Researchers estimate that there are approximately 4,000 affected individuals worldwide.”

The goal of Rare Disease Day is to raise awareness of rare diseases and disorders in public. Awareness is vitally important as it leads to research which in turn leads to more advanced treatments and better quality of life for those affected. On a personal level, raising awareness is empowering for individuals and for families. I am my daughter’s advocate and I am open and honest about her condition, talking about it to anyone who is interested. I am not ashamed or embarrassed by any aspect of my beautiful girls life, if I can reduce any stigma or taboo around disabilities I will put my whole heart into doing so.

So in the interest of raising awareness, here is a summary of Aicardi syndrome from the national organisation for rare disorders (and if you are interested to know how it impacts our day to day life, please read any of my previous blog posts!).

“Aicardi syndrome is an extremely rare genetic disorder. Almost all people with Aicardi syndrome are females. Individuals with Aicardi syndrome have agenesis of the corpus callosum, chorioretinal lacunae and seizures. Agenesis of the corpus callosum means that the structure that connects the right half of the brain with the left half of the brain (corpus callosum) does not develop normally. Chorioretinal lacunae are small holes in the retina (back part of the eye). These are only visible to a doctor using a device to look into the back of the eye. It is very unusual (maybe impossible) to have Aicardi syndrome without having chorioretinal lacunae. The seizures can be of different types. Infants with Aicardi syndrome usually have a type of seizures known as “infantile spasms”. These are single jerks of the whole body. They may happen many times a day. Infants are usually awake during infantile spasms. These look different from the more common type of seizures known as “generalized tonic-clonic” seizures. Generalized tonic-clonic seizures are rhythmic jerking of arms and legs. People often black out during this type of seizure. Children with Aicardi syndrome usually grow out of infantile spasms and then have generalized tonic-clonic or other types of seizures. Other parts of the brain also do not develop normally. These brain malformations cause frequent seizures and intellectual disability.”

Please feel free to share this post to raise awareness about Aicardi syndrome

https://ghr.nlm.nih.gov/condition/aicardi-syndrome
https://rarediseases.org/rare-diseases/aicardi-syndrome/
https://www.rarediseaseday.org/

Take a Seat

Runa had her seating assessment last week and got all fitted for a supportive piece of kit that will be arriving some time in the next 10 weeks. Runa’s wonderful physio had warned me I might find it difficult because it’s not the cuddliest looking thing and she was right. It really highlighted the fact that Runa has disabilities. But Ru’s physio supported me to see how beneficial the seat will be; how it supports her, how she doesn’t need to focus so much on holding herself up so that she can use her hands, practice her fine motor skills and play.

I’m on board, and I’m looking forward to it arriving, even if it’ll take a bit of getting used to.

In the mean time, my incredibly generous grandparents bought Runa a GoTo seat. Again, when she is sitting in it, it does highlight the fact that she is a child with disabilities. But it’s brilliant! It holds her up, giving her the support she needs, and as the name suggests, it can go everywhere with us!

Being able to use the seat in the house is already making it worth the money. Previously, if I had wanted to do dishes, hang up washing or even go to the toilet the choices for Runa would be to leave her on the floor or on the sofa. Leaving her on the floor doing tummy time would mean she would get fed up, roll on her back and not be able to see anything; making her bored and angry. If I left her sat up on the sofa, she could see everything, which was good… Until she would try to sit up straighter and fall flat on her face, risking falling off of the sofa.

The GoTo seat is safe and secure and holds her up perfectly so that she can see all around her. I can move it to the kitchen so she can watch me doing dishes, shove her in front of the TV if I need to go upstairs, or point her at Nina while she plays. Yes, Runa will get fed up and grumpy because she’s a girl who likes her cuddles. But even if she gets upset for a couple of minutes while I finish what I’m doing, I know she’s safe.

The GoTo seat fits in trolleys which has been a life saver. I had bought Runa a harness for the trolley but it didn’t have the support that she needs. Whether it’s because of her condition or her medication, Runa has regular cat naps, so the old harness wasn’t designed to hold her up in such an event. In the GoTo seat, of course her head will flop forward when she falls asleep, but due to the support it provides, she is held safe and upright, not having to worry about her bumping her head on the front of the trolley.

The GoTo seat also attaches to dining chairs. Until it arrived I’d been using a inflatable seat pillow from IKEA which worked great in some highchairs when we were out and about, but was useless in others. It was particularly useless when I regularly forgot to take it with me…
The GoTo seat will make dining out considerably better, knowing I don’t have to worry if the pillow will fit in whatever highchair might be on offer.

Finally, yet to be tested is the park! The GoTo seat fits in park swings and now that the warmer weather is slowly moving in, we’ll be trying out the park as soon as possible.

Now that Runa is a year old, things will be changing and more equipment will be coming her way. It’s not always going to be easy for me but I know that it is all necessary to support her to live life to the fullest. I’ve already seen the enormous benefits that the GoTo seat can provide (and we’ve had it for less than a week!) So when her chair arrives from the NHS I’m sure I’ll feel the same about that.

https://www.fireflyfriends.com/uk/goto-seat