Karen Garner

Karen Garner − An adult Jeunes experience.

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.