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Joubert Syndrome UK



Jake - West Yorkshire | Print |

Jake was born February 2000 Weighing in at a healthy 8lb 9oz. 
I had a normal delivery but there was a doctor on standby because
of meconium in my waters, there was a fear he may have inhaled some
into his lungs.

We got the all clear and moved onto a ward.

Later on in the day Jake became distressed whilst trying to breast-feed (which had been hit & miss since being born) and his breathing sounded erratic a lot of panting and gasping, so he was transferred to the special baby care unit. After a lot of test’s and a few puzzled doctor's faces nothing could be found to be wrong, the monkey like noise was put down to part of Jake’s personality and we were allowed home. Life at home just settled into a new routine, with his four brothers around there was not much time for Jake being fussed over a lot!








Jake had to be fed from the bottle as it became quite obvious that he couldn’t manage breast-feeding, he didn’t like to be cuddled, pushed in his pram or handled too much, his breathing was still erratic at times but worse on a night. We often gave him a nudge to get him breathing again !


After several trips to our local GP about this, I came away feeling like an over anxious mother. By 7 months I felt that something wasn’t right with Jake, his progress was slow he had made no attempt to use his hands and arms or sit up and he appeared lazy.

A routine monitoring visit with the health visitor on his 7 month check confirmed my suspicions and we were referred to the hospital.

The consultant began tests and referred Jake for physiotherapy explaining that Jake was hypotonic (weak muscles) whilst the investigations were carried out.  A physiotherapy programme began for Jake and at the same time he began to decline health wise. Frequent chest infections and difficulty feeding led to weight loss and at one point we were drip feeding him from a spoon.  However things did improve over time and he has gone from strength to strength.

After various tests and a CT scan Jake received his diagnosis of JS when he was a year old.

What a shock!  However the doctor also threw me a lifeline and gave me the internet address of the Joubert Syndrome Foundation.

What a blessing!



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