Our Syndrome. Your Information.

Our best hope for finding new treatments and raising awareness is your participation in JS-LIFE, the JSRDF patient-centered registry.

Whether you are affected, a caregiver, or related to someone who is or was affected, your information* could be the key. Please take a few moments to answer a few questions today.
*only one survey is necessary per affected individual


Joubert Syndrome UK



Gallery & Stories

We hope you enjoy viewing our gallery & reading through some of our childrens stories.
Click on the pictures below.

Bobby - Manchester | Print |

Bobby was born February 2005 weighing 6lb 10oz, by a planned caesarean section, as we were told he had problems and the doctors weren't sure exactly what. At first it was thought he had a condition called Meckel Gruber Syndrome, and we were offered a termination as it was thought he would not survive birth and if he did he wouldn't live very long. God how wrong the doctors were, he came out looking perfect, anyway he was taken to the NICU to be monitored, the first 48 hours he seemed to be doing well and he was almost ready to be moved from NICU and onto the ward with me.


Frankie - UK | Print |


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!





Jasmine - South | Print |
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.

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.  


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