Month: February 2018

My Sons TUBA 1A Explained For Non-Scientists

Having a child with a Rare Disease can be complicated. We spent so long with Freddie being Undiagnosed, having to try to explain his special needs, I realise that having a rare diagnosis leaves us pretty much in the same place.

Wednesday 28th February is Rare Disease Day. A day when we can focus on education of rare diseases and what that means for families like mine. In this vein I’d like to share with you all what it means for Freddie.

TUBA 1A is a protein gene and in short, these tubulin genes are needed during brain development for cell division and healthy brain growth.

People found to have TUBA 1A will have vast developmental differences. Our particular Super Hero, Freddie, is affected in the following ways.

It affected his brain development, first seen at my 20 week scan. The usual walnut patterns of grooves and folds seen in a typical brain are much smoother on Freddie’s. In some cases, the brain can be almost completely smooth. This can cause a wide range of difficulties and disabilities from near normal growth and progression to being life limited. There can be difficulty swallowing, seizures, failure to thrive and unusual facial appearance or dysmorphic features. We have been told that our beautiful boy has dysmorphic features. We just think he is super handsome.

Plus, a part of the brain called the Cerebellum is small and underdeveloped in Freddie. When this part of the brain is underdeveloped it can lead to intellectual disability, delayed overall development (GDD) and movement problems. It is responsible for voluntary movements including posture, coordination, balance and speech.

There are other areas of his brain which haven’t developed properly and these differences can also be seen in others with TUBA 1A so they all contribute to his difficulties. Plus, to add to this, he also suffered a stroke before birth. We think this is the biggest contributing factor to his much weaker left side.

Freddie has a smaller than average head (Microcephaly), he is only around the 2nd centile for head circumference. He has low muscle tone, a learning disability, communication difficulties including Developmental Verbal Dyspraxia/Apraxia, plus a neurological eye sight condition, a bileteral squint and bowel issues. He also needs more time to process what he sees and hears and to act on those things. Occasionally he is ignoring me on purpose but most often he is processing what is going on around him. He has poor balance, falls and trips regularly and poor coordination in most areas. These include walking, personal care, feeding himself and eating/swallowing.

He has also, in the last 18 months, started to show signs of suspected Absence Seizures. The Neurologist isn’t totally convinced this is what is happening, although we have been told to look out for epileptic activity due to the areas of his brain that are damaged. So, whilst we wait to decide he will be tested in the cardiology department for any irregular heart function.

Freddie has had to build many many new pathways in his brain to enable him to walk, talk, hear and eat. Every single little daily task you and I might take for granted has had to be learnt and programmed through hours and hours of therapy.

We taught him everything manually, hand over body and hand over hand. Everything from sitting and learning to use his hands and arms to prop so that he didn’t just fall backwards when sitting. Rolling over, how to move his legs to force a roll. Crawling, how to move each leg individually and how to get his body to push him forward. Plus, coordinating that with alternating his arms so that he didn’t just fall on his face. It happened a lot in the beginning. Getting into a standing position from sitting on the floor. We even had to teach him, hand over hand how to clap his hands together. Then came teaching him hand over hand how to hold a spoon and how to move it towards his mouth and get it actually into his mouth.

If you imagine an adult who has suffered a stroke and how they often need to re-learn all the skills they have lost, this is what we did for Freddie. This is what he has overcome and achieved.

In the beginning, the medical teams were not overly confident he would be able to do very much at all. Ollie and I, although frightened half to death it might be the case, never took that stance. We have always believed anything is possible. Even having read all the documentation available on TUBA 1A, I don’t focus on that. Freddie is unique and will go on to achieve much more. That is how we get through the days.

Don’t let anyone put limitations on your child. Advocate for them and give them every opportunity within your power. You are your child’s expert and the biggest driving force to their individual success stories.

www.raredisease.org.uk

www.undiagnosed.org.uk

 

 

 

 

 

When You Teach Your Child A New Swear Word!

By mid week of half term this week, I was totally and utterly mentally exhausted and had massive auditory overload. I think my name had already been said/whined about 6k times. None of them listen to anything I say. By the 8th time of “Please sit down and eat your tea” or “Please take your shoes off” or “Please get out of the bath” or “Get off your sister” or “Give it back to your brother” (you get the picture) I was pretty much loosing it.

To top it off, I’ve managed to ‘teach’ Bella to say bloody. In context. 😬 The words uttered were “Argh, this bloody Lego.”  as a half built something went crashing across the floor. Parenting WIN. Yay, go me. Oh dear! Hangs head in shame.

I wish I was one of those Earth mothers who got the whole week right, beautiful activities suitable for each child and nothing but fun and laughter. The kind who takes photos of their food maybe, for Facebook, or who always signs off with #soblessed. Come on! This is the real world. This is my real world of three children, one with special needs. Laughing, fighting, whining (A LOT), cuddles, tears (occasionally mine) and fun.

There are some fantastic, funny and lovely times but honestly, some moments are just soooooo hard. So hard in fact I decided to read a book I’ve had on my shelf for a little while The Yes Brain Child by Dr Daniel J. Siegel and Dr Tina Payne Bryson. I realised, as I was going through the book, that some of the techniques discussed are tactics I use mostly with Bella and actually for myself in prep for stressful situations, often pretty successfully. However, by Wednesday, I wasn’t in the right positive/resourceful state to access that knowledge in the moment so I had a total parenting fail. The whole day at every turn.
After Wednesday’s diabolical morning, I decided to get straight and start again. I tried the Yes Brain technique with Jago and bingo. It worked. I doubt it will work every time but by the end of this week I am feeling far more in control of myself and able to parent better. Sometimes life just gets a bit overwhelming there for a moment doesn’t it?

The great bits of this week. Bella learning to ride her bike and Freddie being able to participate in this regular family activity. Going to the theatre with friends to see The Ginger Bread Man and the smiles on the children’s faces. A very lovely friend taking time to check in with me, recognising  I was overloaded.
Seeing how pleased my grandparents were to spend a little time with the children. Taking Freddie to a friends party and seeing how much he truly enjoyed himself and how pleased his friends were to see him. It really made my heart swell. He cracked me up at the end. No inhibitions about asking if there was a party bag. Little monkey. I had a really great time with him.  Plus, Jago has taken to calling me ‘Queen Mummy’, got to love a Mummy’s boy. Big bonus at the end of the week, Ollie and I get to have Friday night curry and wine with good friends and the children on a sleepover at Gogoos to give us a nights respite.

Don’t you just love it when you take about ten photos and still can’t get all three to look at the camera and smile. 

Phew. A nice dog walk in between helps to clear the mind. Five minutes meditation in the shower with the door locked each morning and Prosecco. These things all help.

I love my spirited and challenging children. Must try harder to be calmer though. Lack of sleep doesn’t help. Think I might go to one of those strange gyms each week in the run up to the summer holidays where you can just sleep for an hour to prep myself.

Just having written down the good things that have happened this week has made it feel a lot better. If you are having a tough day, write down the good things that have happened and those things you are grateful for. It gives me great clarity.

I hope everyone has got through their half term in one piece. xx

 

P.S.

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