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Joubert Syndrome UK



Neve - Tyne & Wear | Print |

Neve was born on her due date,February 2005, after I was induced; the midwives were concerned about Neves lack of growth in the womb.   My labour was quick and relatively easy, in fact I slept through most of the 3 hours of labour.

When Neve was born she didn’t cry like I had expected her to (in fact she didn’t learn to cry properly until she was 8 months old) she weighed in at 6lb 3.5oz she had to be given a little oxygen, but other than that she was a healthy little bundle of bones (bless).

I wanted to breast feed but although Neve could latch on she could not suckle.

After 48hrs Neve was transferred into special care baby unit due to the fact that she had not fed and she seemed to shudder when she was breathing.  Neve was moved on from breast feeding to bottle feeding and was given the all clear to go home after almost a fortnight.

When Neve was 6 weeks old a health visitor noticed that she was panting heavily and was extremely distressed at having to be undressed. (I told her that was just Neve being Neve).

We were sent to a hospital ward for some tests.......  Neves paediatrician was an absolute angel, she ordered test after test after test ranging from asthma to meningitis.... after about a week and a huge round of blood tests, urine samples, stool samples, lumbar punctures and x-rays... the paed was looking a bit puzzled and so it was decided that a CT scan would determine “IF” there was a problem with her brain (last resort).  This showed an “abnormality” and we were transferred to a larger hospital to see a neurologist, where an MRI scan showed and confirmed Joubert Syndrome.

It was after this that I was told basically that Neve would possibly not be able to do anything that I would have a new born baby all my life.  Neve was given an apnoea monitor, because she regularly stopped breathing, and we were given resuscitation training, which thankfully we have never had to use (fingers crossed we wont have to either).

However the most traumatic news, (for me) that I found very difficult to come to terms with was that Neve was blind (I now know that this was inaccurate) she actually has approximately one tenth of the vision she should have.

Feeding Neve was a nightmare.......we found that Neve was lactose intolerant and she also had quite bad reflux, and so it would take an hour or so to get 4 oz of lactose free milk into her, trying to feed her baby foods that contained no dairy produce (quite hard to find) then she had to be held still for an hour to stop her being sick, then she would sleep then you would have an hour before the whole thing started again.

Neve is still on mediation for reflux/acid tummy.  And although she has a small amount of dairy produce in her diet now, I don’t allow her to have any full fat milk or creamy things as this causes projectile vomit which is distress for Neve and for anyone around.

Developmental wise - she can hold her head up, she is learning to control her trunk much better and this is getting better every week, every day (almost) we carry out a regime of play therapy, speech therapy, physio, and visual stimulation.  Neve cannot talk but she communicates her needs by a serious of noises, and body movements.  She can roll around on the floor and just recently I have noticed that she will look at something or someone at the other end of the room, then she will shuffle her body into position do a couple of rolls then have another look then if she needs to she will reshuffle and roll again until she gets to whatever or whoever had caught her attention, this was huge for me because it showed some she recognised what she wanted and understood how to get to it.

All of these things have proved to me what I always knew....... My daughter is not just my special little girl but she is a determined little fighter who has proved a lot of people wrong.


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