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Joubert Syndrome UK



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.


When Bobby was 2 day old Robert and I went to the NICU to see him and were told the doctors were with him doing some tests and could we come back later, they wouldn't tell us anything so we went back to the maternity ward to wait, after about 2 hours a doctor came to see us, he said that Bobby had an imperforate anus and had to be transferred to another hospital for emergency surgery, we were in shock. Later that day we were both transferred to St Mary’s hospital in Manchester where Bobby had emergency surgery, he had to have a stoma as he couldn't open his bowels, he needed another operation to repair his bottom, but that would have to be done when he was stronger.

While he was in St Mary’s he was seen by a Geneticist who noticed he had a strange breathing pattern and she thought he had Joubert Syndrome, so he had to have an MRI scan to find out. Bobby also had polycystic kidneys and 2 holes in his heart. Bobby had his 2nd operation to repair his imperforate anus at 5 weeks and was allowed home a few days later, we were so pleased to be finally taking him home but also very scared.

Bobby had been home 2 weeks when he stopped breathing and Robert had to resuscitate him, he was then rushed to hospital and put on a ventilator for a week and came home again after 2 weeks, this time we were very scared, he wasn't even given an apnea monitor. This is where all the appointments began.

Bobby wasn't gaining weight very well and was constantly sick after a lot of admissions to hospital, he was finally diagnosed with reflux and given medication for it. Bobby had his MRI scan at 11 months which showed the molar tooth sign so he was eventually diagnosed with JS. Time passed quickly with lots of appointments and things like physio, occupational and speech therapy and portage. By the time Bobby was almost 2 he was still very small and not growing, after lots of tests he was then diagnosed with growth hormone deficiency and now has daily injections to help him grow.

Developmentally Bobby can roll around the floor, its amazing how fast he can do this, he also tries to crawl but cannot lift his head by himself, and he’s sitting unaided for a few minutes which I'm so proud of. He has a standing frame to help him stand. He’s also learning Makaton and has recently started at nursery which he loves and has made lots of friends. Bobby is the happiest person I have ever known and he’s so determined, he knows what he wants and most of the time gets it.


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