Browsing Tag

genetics

A change of mind

Posted on 9th September 2018

Last month I drafted a very long post about social media and connection, I was about to publish it and then I came across an article online which completely changed my outlook. It was about humanity and the blame culture, I realised complaining about humanity and the way we rely so heavily on social media was counter productive.

Rather than complain and point fingers at faults, how could I work to improve my own use of social media? It’s our responsibility to model the things we want to see and value in society, kindness, compassion and meaningful interaction. I think lately this ties in well with the current issues we are experiencing globally and the social awareness towards our environmental impact. For one currently in the eye of the media is the plastic in the sea, the strange weather we’ve been experiencing – both of these things have raised important questions about bringing home the important of our own impact on our future.

Starting again using a more positive framework, I’ve recently taken a break from my own personal social media accounts. It’s so easy to use up the idle time between tasks with a quick swipe of Facebook and scroll down the feed. I wanted to be present more mentally and I’d like to maintain more of my friendships outside of this viewfinder kind of window box world.

I have found being more “offline” has meant I am much more productive, much more aware, much less attached to my phone although I do still use it for Instagram which I love. I find little snapshots and images are far quicker to process and disconnect from. Right now I’m using my time to keep on top of all the tasks required to organise two children, one with many medical needs, two cats, a household. I’m finding far more time for myself, I now attend the gym which I have always thought about doing but never wanted to invest time into during the evenings. I’ve lost 20lbs in weight (comparing my pre pregnancy weight) and am the slimmest and the most physically fit that I have ever been in my life thus far. My original motivation was to get stronger as my wrists and arms were beginning to ache every day carrying Ariella, fortunately I have done this but she also has started to become stronger herself and needing me slightly less so now I am beginning to lose my tolerance for carrying her at all.

I’m not sure it was constructive for me to always be so visually aware of the things that children the same age as Ariella are doing. It’s much easier to just live in the now and work with her timeline than to see what she “would” of been doing had things been different. So far it’s going really well for me, my friends have mostly adapted to letting me know when they want to chat and use more direct means. It does mean that occasionally I miss announcements but much like sending a letter in the post compared to email, most of the time it still arrives.

We’ve been making some positive changes generally to our lifestyle, Sebastian is now using Eco nappies which is really just one tiny change but it makes me feel a little better. I can’t quite get my mind around going full cloth after comments about having a poo spatula from others but we are trying the Eco Naty disposables that are biodegradable. So far I really like them, they aren’t as absorbent as say Pampers which we use over night, so need changing about as often as cloth would but it’s a good positive start on removing something that really does not degrade – nappies and we use a lot of them!

What have we been up to?

If you’ve been keeping tabs on my instagram you will have seen that we all entered the 100,000 genome project last month – linked in case you would like to read more about the project. It’s the very best chance we have to find a diagnosis for Ariella, I am so pleased we are finally in the system and although it will be many years (around 1 – 2 at least) there was the possibility we could well have missed the deadline as it is now closed. Last May 2017 the discussion of the project being the next step was raised, but we didn’t hear anything back and after chasing we have just met the deadline, I can’t tell you how horrified I would have been if we had not been able to enter. It’s a very important project in which the whole genome is considered against the medical record data, a position in which the NHS is well suited to accommodate in England. Hopefully in future years the data gained will benefit in more ways that I can imagine, certainly if it can help stop future families living a lifetime of uncertainty about their child’s health that will in itself be more than enough.

We also saw Neurology at the same time when visiting St Georges Hospital, Ariella will be having another MRI at the end of the month this time under general anaesthetic. Probably for the best given the last MRI she woke up during it.

Sebastian is doing well, progressing well, sleeping well, smiling – he is a very happy chap with his two teeth. Every day is interesting and every day I’m reminded of how different my experience is this time around. He is almost crawling now, luckily everything is baby proofed still. We still have our stair gates in place as Ariella has just started to crawl downstairs. I am looking forward to getting more one to one time with Sebastian once Ariella starts preschool next week Ariella has now finished nursery but previously nursery days were often unwillingly Ariella admin days.

I have had a whole week with the two children, it has reminded me that actually once you get into a rhythm is isn’t all that bad. To keep busy and feel somewhat in control I planned the weeks events out in my new paper diary, this worked really well and I was able to prepare Ariella every day better. I don’t know why I didn’t do this before, it’s much easier and you can actually make good use of your time. So often I would just waste time or not be efficient with being “outside” and doing the outdoor tasks all together. When you have so many steps to come up and down with two children attached to you, you begin to appreciate reducing those trips up and down. I was fortunate that this past week Ariella’s seizures have calmed down slightly so she has been happier in herself.

This week we tried to make use of some of the memberships we have with the National Trust and RHS, we visited the local Arboretum which both children seemed to enjoy. We took many trips to various local parks to feed the ducks, use the swings and go for walks. We stopped by our local garden centre for ice cream and to use their garden piano which Ariella is so fond of and finally ending with a trip South to the beach, soft play and swimming. Ariella sleeps better when she’s had some good daily physical exertion now, if we stay indoors the whole day then bedtime can be a little prolonged.

September means new beginnings for all of us, preschool every day (eventually) will be quite an adjustment. It will feel I’m sure much like the school run, I hope we adjust to it okay. I hope that Ariella adjusts to her new “nursery” okay too, she will get lots of support so I’m sure that will make it easier for her. Right now she is often going through weeks of phases where she is quite confused, repeating phrases, screaming and generally seeming quite distressed. It feels like there is a lot going on neurologically, I hope that we get some answers soon so that she can carry on moving forward more and we all have a calmer environment. The change in state seems to go hand in hand with seizure activity, absences, tremors, a new kind of seizure too where her body muscles jerk oddly for a few seconds then stop.

Medication is going up but once the seizure activity passes we have a few weeks of calm (with the normal challenges) again.

I often feel like I can’t quite keep up with the updates of what is going on, each week is different. I try and write about what we are up to and then the goal posts will change!

Lifestyle Parenting Weekly Update

Bristol Zoo, First steps and Genetics

Posted on 17th May 2017

“You need to spend time crawling alone through shadows to truly appreciate what it is to stand in the sun.” – Shaun Hick

Our days are filled of typical things, trips to the Zoo, the aquarium, walks, parks, arts and crafts but every now and then those weeks are marked by appointments. Last week was marked by our geneticist appointment, which it seems in hindsight I was greatly unprepared for. In my defence the letter inviting us to their department at the hospital was lacking in details, it discussed maybe taking some bloods, maybe a family tree all things which I felt I could answer to a reasonable standard.

The appointment was on a Friday and the days following up to it had been pretty amazing, Ariella had taken her first independent steps on camera (you can check that out on my instagram). We had spent the week taking lots of walks and saw the bluebells that had sprung near one of our local Arboretums. Ariella was doing really well with her fine motor again and engaging lots in her portage/physiotherapy sessions. The weather here in England had perked up a little and things generally were on target, we even did some water play indoors, took long walks and ate lots of ice cream.

Water play, Ariella still really enjoys water. We are trying to encourage sensory play.

The quickest picture ever, the only one in which she isn’t crying.

I was really looking forward to our weekend ahead too, we planned to take Ariella to Bristol Zoo as we were returning to visit my parents. The whole weekend was packed full of activities with the zoo, meeting friends for lunch, toddler free dinner later in the evening with friends too. Fun packed and I couldn’t wait for Friday to come.

Come it did, it felt like a weekend as Jamie had arranged to take the day off work so we could all go together. We didn’t know whether they would need both of us and given the topic would be genetics then it seems appropriate. You might remember that Ariella has already been tested for the basic array genetic testing. The best way to describe this is in the way that the geneticist did for us, say for example to imagine you are looking at a library. Sections of DNA that build a protein are called genes and imagine one gene is a book with instructions within it. Genes are then further organised into long strings which we call chromosomes, if we are saying a gene is a book then the chromosomes would be the shelves which the books sit on. A library of shelves (chromosomes) with books (genes) lined up in somewhat order. Ariella’s basic array checked to make sure she roughly has the right number of books on the right shelves. Her paediatrician however wanted us to speak with the genetics department to see whether further testing would be useful.

During the appointment we started at the beginning listing everything from pregnancy to date and she was checked over. Her MRI was discussed and it was agreed that it definitely needed to be reviewed from a genetic point of view, luckily we had a photo to hand and I explained my thoughts on the MRI not expecting them to agree. However there was agreement about hypoplasia of the corpus callosum which I’ve been waiting so long for someone to say officially. I can’t stress how important it is to really learn in-depth about your child and their suspected conditions, at one point I was even asked if I had studied medicine (no but I have spent two years researching this!). At the end of the appointment the geneticist looked at me and asked me what I thought, which caught me off guard. I really hadn’t considered genetics beyond the first array Ariella had, I had focused so much on the MRI that I’d not spent much time at all researching anything else nor had I considered that there might be any suggestion of anything further.

The conclusion was that Ariella shows some attributes which suggest her developmental delays are the result of a genetic condition, further testing required. I wasn’t expecting that at all, I asked what the attributes were and although they don’t normally tell you because it’s hard to hear I listened and insisted on hearing it. They are very sure that they are right and in one way it lifts things slightly off me because I’ve been assured that nothing I could have done (including my thyroid) could ever have changed the outcome but still we are left with some pretty worrying conditions to ponder, including some life limiting being tested for I can only hope for the very best outcome, it was definitely a shock to hear that there can be such certainty at this stage even before the tests. My first reaction was that it doesn’t matter what is found, but it will give her more information and I believe she deserves to have that information.

You might wonder why I’m sharing this with you, I’m sharing it to help you understand and if someone who is going through or is waiting for testing can benefit from reading this post to purely know they are not alone then I’ve done what I set out . After the conversation with the geneticist I turned to the only other person I know who would understand, another mother I met through therapies who had also gone through the same process.

After that deep conversation we came home and needed to pack to leave for the weekend, I’m glad we continued with our plans as normal because we really needed those good days to bring us all back up. Ariella loved seeing her grandparents and her face lit up when she realised where we were. The next day we were up early and headed straight to the Zoo, it was blissfully quiet and the best time to go. Bristol Zoo had changed a lot since I had last been, I really liked the changes they had made and it felt more child friendly than before. I’m not sure if this is because I hadn’t looked at it from that view before now instead looking at it as an older teenager previously. She enjoyed seeing all the animals, insects and reptiles with a few exceptions, mostly she loved the monkeys and the lion. Monkeys are a big interest for her at the moment so we went through Monkey Island quite a bit!

After a few hours in the Zoo, walking Ariella around and visiting the little park they have inside we met our friends for brunch in Clifton. If you’ve never been I really recommend visiting Clifton, it’s one of the most pretty parts of Bristol and there are lots of lovely walks. It was a good day for it given the weather held off and the sun did come out. By the time we had eaten and walked it was late afternoon so we headed back, we had been out for a long time by this point and Ariella was becoming a little eager to play with her toys. Just enough time to play before Ariella had her dinner and went to bed ready for us to head out to meet our friends again for a grown up dinner.

Ariella meeting one of the lions at the zoo

The rest of the weekend was very normal travelling and then a park trip, we headed back late morning and Ariella had her usual Burger King service station meal. She doesn’t get to eat chicken nuggets often at home (although I did grab some fish fingers for our freezer after seeing the latest Daily Mail article about some well-known mummy bloggers). It was refreshing to arrive home again, after all there’s no place like home.