Here are some biographies of people living with Jeunes either as parents or having Jeune Syndrome themselves. If you would like to contribute a biography to the website, please get in touch at the email address at the bottom.
Mum had no scans when she was pregnant with me so until I was born they weren’t aware there was anything wrong. The only thing mums GP said was when he felt her tummy was that she had a long baby in there (must have been my back he was feeling as I’m a mere 5ft 2½)
From what I have been told there were a few tests done after birth including a lumbar puncture I presume other tests would be bloods, scans etc They also thought I may have Down’s due to me only having three lines on my hands (not sure if this is just coincidence or related to Jeunes). I was in hospital for 3 weeks presumably so they could do tests etc.
Feeding was a big issue as as soon as I was fed I would be sick and in the end mum and dad fed me over the sink as they knew what was going to happen. They were told to just persevere. Knowing what I do now it was obviously due to the narrow ribcage but all they were told was that the first year of life was the most crucial and if I could survive that then it was good which 30 years on I’m still here.
Growing up I didn’t want to know anything about my condition as I didn’t like going to appointments or getting blood taken, nightmare patient that was me. At appointments they would get me to do a 24hr urine collection the night before for creatanine clearance, take bloods on the day (eventually and with the help of Emla cream) and every 2 years they did a kidney and liver ultrasound scan. While being seen by the Paediatricians the whole focus was on the kidney function but since starting to get checked again since pregnancy all the focus is on the liver function which actually improved during pregnancy but did rise again afterwards but is slowly coming back down though not back at my baseline as yet.
When I was 17 the Paediatricians could no longer see me but they didn’t want to pass me onto more than one doctor so decided a renal specialist was the best option. I think I saw him when I was around 20 years old he sent me for a kidney MRI to look for cysts on the kidneys and if there weren’t any which there wasn’t then it was highly unlikely I would develop renal failure.
Never saw anyone again until seeing a geneticist who said that there was ongoing research and could they have blood for storage until they developed a technique to test which gene Jeunes was on and as I was a nightmare at getting blood taken I said no. I think I saw them one more time when I went through the having children talk. All they could tell me was that I had a one in four chance of passing the gene on but as my husband didn’t have Jeunes any children could just be carriers. I saw an Obstetrician who said that until I was pregnant there was nothing they would do and would play it by year.
When I got pregnant I was referred back to the Obstetrician who monitored me but not as often as I thought he would. A Gastroenterologist monitored my liver function throughout pregnancy and still is every 4 weeks now.
Harry (Harrison) is the 3rd child and was born undiagnosed with Jeunes in a small hospital in Queensland Australia. The road was long he had the high heart rate and breathing, and he was a terrible colour blue.
They sent us home with him after a week of not knowing and said just enjoy him while you can…
By two weeks he had an obscure head shake that no Neurologist or Metabolic Professor has ever been able to explain. By 4 weeks of age I knew he couldn’t see and it was confirmed − though his vision did come through gradually.
I literally scoured the earth looking for someone to tell me what was wrong with Harry He just became a baby pincushion.
By 8 months he started getting very constant chest infections and becoming more unable to cope.
At 18 months he hit the wall of dread and flatlined, he was resuscitated, he got worse for the next year, when he was in ICU it was noted that his chest x−ray showed how tiny his ribs were, and within a month we were diagnosed by one of the worlds most respected Geneticists Andreas Zenkle. By this time the head shakes suddenly ceased.
Harry is now 4, he is losing what vision he has. It is thought he has a form of Leibers and Retinal Dystrophy and is legally blind (but don’t tell him that).
His speech is delayed, but he is by no measure ‘slow’ he is doing awesome. His chest infection frequency has improved dramatically, although we are now concerned with liver and kidney results and of course his bones. Harry has a serious weight issue that we are still seeking answers too. Lots and lots of speech therapy and OT and Physio, lots of climbing to strengthen the muscles around his wee flat bones and of course letting him catch up on being a little boy.
My heart broke the day Harry was born and then when we finally had a diagnosis, however he has proven this disease can be beaten day by day. I believe that without major surgeries these kids do make way for their bodies to get better with time. But the wait is long and unbearable − I understand that too. I am scared for Harry, I always expect the worst, every day I dread a cold or a runny nose, because it escalates so fast.
There is no plan for these beautiful children who are surviving Jeunes and living at home, and no respite for the mums and dads who live in a genuine fear everyday of noticing every sign of their child becoming unwell and then having to have the ability to keep them breathing until we can get them to help.
It is an uphill battle with GP’s and hospitals because this is a rare disease. It is a struggle to get a plan for school, and resources for their small bones.
Harry is the most amazing person I know − he has never given up, not even when everyone else would have, he is giving life all he has got. I hope one day I can forgive myself for all that Harry has had to endure in his life; I will spend the rest of my life with the guilt I am sure. To My son Harry − Just Breathe. xx
I was born in 1971, when there was even less knowledge of the syndrome than there is now. Being half-English/ half-German, and with a well-connected dentist for a grandfather, I was taken for tests in both the UK and Germany (which, I’m told, included me being paraded in a lecture theatre in front of a number of doctors – even then I was a ‘star’!), before being diagnosed with the syndrome, my deformed chest, which was large and out of proportion in size to the rest of my body, being the most obvious sign of the condition.
However, after some tough early times for my parents (in terms of eating, ice cream proved to be my saviour!), the rest of my body began to ‘catch up’, and I gradually started to develop into a normal young boy/ teenager – going to school as usual, playing sports and music, going on holiday, socialising etc.
Fast forward to the present, and having ignored Jeune’s for most of my life, the time recently came for me and my fiance to re-visit the syndrome, in terms of the potential impact on future offspring, which led to Jeune’s being confirmed by a geneticist in 2013. However, with middle-age impending, I am delighted to say that, even though my family has a history of heart disease (which I presume can’t be helpful in such a situation) my life is continuing pretty much as normal. Yes, I have some slightly unusual physical characteristics which may or may not be Jeunes-related, such as large-jointed fingers (or ‘funny fingers’, as my god-daughter used to say!), flat feet, hammer big toes, and a number of birthmarks (including one on the side of my head which I’m sure will prove to be a nightmare as and when I go bald!). On the other hand, my chest issues have long since seemed to have rectified themselves (any remaining ‘stomach’ being probably due as much to over-ingestion of fine beer than anything else!), and health-wise, the general prognosis seems to be positive. Only recently, I had to go to hospital for what turned out to be a chest and lung infection, however chest x-rays and associated tests taken at the time all came back without any Jeunes-related issues.
Whether I have just been mighty lucky, or have only a very mild case of the syndrome, it seems that Jeune’s syndrome is something which, so far, has not impinged greatly on my everyday life. Hopefully I will be able to say the same thing for many years to come.