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Joubert Syndrome UK



Sara - Scotland | Print |

Sara Rose Penman was born February 2007
Weighing 3lbs 7oz and nine weeks early! 
I had an extremely quick and very intense 4 hour labour and was still in denial up until the midwife shouted "I can see the head"! 
With Sara being so eager to meet us, we had two Consultants, one Registrar and a wee medical student with an extremely sore hand on stand by to whisk Sara away. 
She was taken away straight after birth but brought back after a couple of minutes as she was breathing fine on her own.  My husband Scott and I got a two minute cuddle and away she went to the Neo Natal Unit.  

Sara was in neonatal for about nine weeks with this "strange" breathing pattern that no-one had ever really seen before.  Her own consultant thought it was related to her premature birth. After requesting a meeting with him, he told me that he was certain that Sara would grow out of it and saw no reason why she wouldn't develop and reach her milestones like all other children. Strangely, thinking about it now, He even said he saw no reason why she shouldn't attend a mainstream school although I felt at the time that it was a bit presumptuous for any child whether premature or not, with breathing problems.

Anyway, thankfully, the consultant who was on call for the neonatal unit stood and watched Sara one weekend, after observing the cot shaking violently with each grunting breath Sara took, she made a few calls to her colleagues asking if anyone had ever witnessed such a breathing pattern.
A Consultant at Yorkhill Children's Hospital thought he might of, so off we went for tests.
After a week of tests and Sara stopping breathing once - she was diagnosed by MRI scan that she had Joubert Syndrome.  Our consultant had only ever seen one other case and the wee child is now 11. 
There was not much information available so not much information was offered to us.
Away we went back to Stirling where everyone wanted to see Sara now with this condition that no-one knew anything about.  Sara had an apnoea alarm on constantly which "went off" up to 100 and odd times a night.  All the nurses tried to tell me that I wouldn't sleep and wouldn't cope when she came home but what could I do - leave her in hospital indefinitely?!  She is my baby, I wanted her home and sleep is over-rated anyway!!  After an apology from her consultant we concentrated on getting her off the oxygen, "fed up" and home.
Well, home we went on 14 May this year after 3 long months, when after 6 hours, my darling daughter decided to put our resus training to the test and stopped breathing completely and I had to resuscitate her! 
Back to hospital we returned until 9 July 2007!  My confidence took a massive nose dive and I just couldn't cope at the thought of anything like that happening again.  We eventually came home as I said on 9th July with a full support package in place of night carers, community children's nurse, physio, OT, speech and language therapists and a dietician. 
After 3 months of night carers, myself and Scott have decided that we would like to be a real family now and have stopped the package.  Whilst they were amazing and we could not have come home without them as Sara's alarm was still going off over 100 times some night and hey, sleep is sooooooo needed to cope during the day, we needed to move on and get Sara up the stairs with us. There was so many little things about Sara that took us a while to work out.  Like the fact that if she was sleeping and you tried to talk, watch TV, eat a packet of crisps, anything that made the slightest wee noise - this would set her off and her breathing pattern would change then she would be ill for a day or so!  It was not fair to expect the carers to sit all night and not even be able to eat a packet of crisps!
 Sara has been in her cot in our room for nearly 4 weeks and now and it is amazing.  Believe it or not her alarm has only gone off 6 times in total over the 4 weeks and she has only had a couple of bad nights.  Her breathing is really bad some nights and she doesn't sleep at all as the alarm wakes her every 20 seconds then she takes in a lot of air and can get really bad colic when she is like this and nothing helps.
Developmental wise - she is coming on really well.  She has a special chair called a tumble form which is encouraging her to hold her own head and she is getting stronger every day.  She has rolled over a couple of times but her temper has a lot to do with that and it seems to spur her on.  Her temper is a huge issue at the moment - we don't know if it is related or just that she is a red head!  The doctors can't tell us as they know nothing about JS.  They seem to be overly cautious with everything because of this, which isn't a bad thing!  Sara is on solids and is gaining weight well.  She is babbling away to herself and of course with the breathing pattern that she has, she is never silent.  The breathing is still a huge worry for me.  We cannot take her out from her own environment as her breathing changes and makes her ill.  She cannot tolerate being held for long periods of time which is an issue after every feed as she has reflux and is sick if you lay her down.  Everything in our house is on a slope!  She cannot tolerate strangers in her environment either.  They have to be at a certain distance until she gets used to them. This included her grandparents which was extremely hard for them.  They are just getting on the floor with her now and I have asked if they could visit on the same days at the same times instead of just popping in so as Sara gets older, she will know they are coming.  Just something that seems to work for us.  I don't do anything else on those days therapy wise as it can all just become too much. 
We were in denial I suppose for a long time when I asked one of Sara's nurses if she could try and find some information for us.  That is when she gave us Faith's number.  Thank God for Faith!  It was wonderful to speak to someone who knew what you were talking about as we feel sometimes that our family and friends think we are making it all up just to keep Sara to ourselves.  Talk to someone in the same boat.  It is amazing the relief you feel.  Just remember too, every child is individual no matter what is wrong, even if they are "normal" - (ooh I hate that!) - We all must realise that we are doing a good job.


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