Friday, 30 August 2013

Even Super Heroes Wobble - An interview with a Supermum!

 Today on the blog I have a very dear friend as a guest - Please welcome the lovely Katie Kitchen. I've invited Katie to discuss what has been going on for her and her wonderful family, in particular her very special son, Finn. Take it away Katie........

Hi Katie, tell the readers of the blog a little bit about your lovely family?

Howdy!  My name is Kate I have entered level 3 of the 0's and live with Mr K and our very own wobbly superhero - Finn.  I have a rather an over enthusiastic like of Converse (currently at 4 pairs of shoes and 2 high tops) a love of baggy jeans and some unruly curly hair!  We live in the South, sharing our home with a cat who my friend affectionately calls the House Hippo as he is so big - but he is Finns best bud.  Our Superhero is 6 and his birth changed everything, slowly but surely things did not follow the pattern it should and we cautiously entered the world of Doctors, equipment and blogging.  From first appointment to diagnosis was just over 3 years.
 

 
 


Your son Finn has Joubert Syndrome. Can you explain what this is exactly?

Joubert Syndrome is a rare genetic condition that effects 1 in 200,000 people.  It's a funny old number to get your head around really - but when we discovered the capacity of the Olympic athletics stadium was 80,000, it blew us away that you would have to fill it over 2 times to only have one person with the Syndrome present.

JS is diagnosed via MRI scan despite it being genetic, it is a recessive condition which means that there is a 25% chance of any child you have may have the condition and also that both parents are carriers.

The cerebellum Vermis is not formed properly, this is the part of the brain that helps with motor control (fine skills like pen holding, to gross skills like walking) balance, speech and also effects emotional regulation.  The brain stem is also effected and so people with JS often have issues with swallowing, breathing patterns, sleep apnoea and body temperature regulation.  People usually have ataxia due to the poor balance and lack of control and this can be seen with walking but also in tongue control, head control and within the eyes too.  Processing bright lights, change, noise, demands and new experiences also prove difficult.

It is thought the condition arises as the Cillia (the hairs) on the cells are not formed properly and JS is now classed as a group of diseases called Cilliopathes.  This defect means it is not only the brain that is effected and people can have kidney cysts, retinal degeneration and also liver complications. 

As with syndrome everyone is effected differently - for us it means Finns walking is very unsteady and he fatigues quickly.  His speech is not clear to people who do not know him.  He finds normal daily tasks difficult.  His head flexes back.  His swallow is unsteady so his liquid is thickened and we need to check on him regularly through the night to ensure he is not too hot and that his breathing is stable.  He also has issues with sensory processing which effect his level of fatigue on a daily basis too.  Currently his kidneys are fine but they are scanned like everyone with JS on a yearly basis.

We have the wonderful shared knowledge and support from fellow families through our support group www.jsuk.org which is a fab place to visit if you would like more information.
 

What are the challenges that Finn faces on a daily basis?

From dressing himself and controlling his balance and fine motor actions, to managing the co-ordination of brushing his teeth - everything is affected, opening crisp packets and cutting food... everything.

 When he walks he must always be supervised - he often falls and stumbles but also does not seem to be able to gauge when it is a good time to stop, he is one determined little Superhero.  He often walks holding an adults hand and struggles immensely in busy places like towns.  He has access to a wheelchair which he uses frequently which help us all and he  is a rather super self propeller!  But  being a child he is now outgrowing the frame size and we are in need of a new light weight chair.

We have only just managed to get him desensitised enough to enjoy a shower after years of trying, the feeling of the water was just too much for him to process and he also finds being by roads, or unexpected noises unnerving.  Trips to theatres and cinemas must be accompanied by ear defenders and once confident he decides when he should take them off.

 You’ve recently begun a fund raising campaign. Can you tell the blog readers a little bit more about that and why you’ve decided to set this up please and any challenges you’ve faced along the way?

As I have just explained Finn needs the use of a wheelchair.  It is not that we are not amazed that he walks, and he does so confidently in his own house and familiar spaces like school but in greater areas wheels actually make him more independent as he does not need an adult to hold his hand, he is safer, makes better decisions and has much more stamina.

The light weight wheels that he loves are now too small and we need new ones, this issue is just how much money they are - they will be over 2k.  The NHS has supplied us with the chair we need when he is very tired and unstable (his mobility is changeable on a daily basis) and so we need to fund this ourselves  But as most people would expect, we don't just have this money lying around and as much as we had wanted to try and do this by ourselves we know it simply is not possible.  It took a lot for us both to realise the only way to help him was to ask for help from others.

We know there are charities like Whizz Kidz but they are stretched beyond belief with waiting lists years long, but as he has almost outgrown his lightweight chair (which is about 8 years old and served many children well) we need to get him a chair as soon as possible.

We are starting the fundraising with a Sports Day on the 2nd of September at Eversley Park, Kings Worthy between 1 and 4.  There is a super raffle, the chance to play one of ten games as well as drinks and of course.... CAKES!

This fundraiser is also supporting another local girl Jemima who has CP and is in need of an operation in the USA.



 To help raise awareness of events I have set up a website www.evensuperheroeswobble.co.uk which also gives a better description of JS as well as a bit more about us.  I was even badgered into putting on a donate button which I was very shy about but we have already had some fantastic support from this.

 What ways can we help support your fund raising efforts?

If you live locally and fancy a giggle just come and say hi!  But any awareness spread about JS by linking up the website or sharing this interview would be wonderful.  I must thank the many authors who has sent books for our raffle prizes - I have been truly overwhelmed by their support.


 You are a fellow blogger Katie. Can you explain why you decided to start a blog?

It has taken me a long time to be comfortable in my shoes. My first ever post http://lifethroughthewrongendofthetelescope.blogspot.co.uk/2010/06/well-here-goes.html shows just how hard I was finding it all.  At this point Finn was 2 and a half, a non walker or talker, his peers were getting bikes and I could not find the words to tell people how I was feeling.  I had a relative who had a blog and I thought I loved keeping a diary and thought it would help ease the amount of thoughts in my head.

Through joining blogging groups I have met some wonderful friends.  I feel much more confident and love the camaraderie it brings.  I never regret starting to blog, in fact with all that followed from the that very first post I wonder how I would have coped without it.

 

So here is to the blogger!!!!


Thanks so much to Katie for this fab interview.
 
Please help out any way you can and support a very worthy cause. Show your support for Katie and her family.

 

 

4 comments:

Bright Side of Life said...

Thank you JB and Katie for sharing this. I wish I could be there to support your big day, it sounds like it is going to be a lot of fun.

Tanya J. Peterson said...

JB and Kate, I hadn't heard of JS before, and I'm very glad you wrote this interview post. Thanks for enlightening me (and other readers) about what Finn experiences -- what your whole family experiences, Kate. We can't choose what's in store for us or our children, but we can choose what we do about it. You really are a supermum, and yes, supermums have the right to wobble, too.

Sheryl Browne said...

All mums wobble, Katie. Supermums just don't have the luxury of being able to sometimes. Is so lovely to have a shoulder to lean on when you do. Brave post, brave you. Sharing is enlightening and allows other supermums to do the same. Best of luck, sweetie! :) xx

Steph Curtis said...

I love this post, very informative about something I had heard of but knew nothing about. Particularly love how you've compared the numbers to the Olympic stadium - really puts it in perspective. Hope your fundraising is going really well! x