Russell-Silver syndrome
On my thirtieth birthday, I went for my 20-week ultrasound. In the end, I didn’t find out the sex of my baby that day. We were so stunned that we didn’t even think to ask. The baby was severely stunted and the circulation in the cord was poor. The same day, we met with a geneticist, I underwent amniocentesis and was told I could choose to terminate my pregnancy.
From then on, my pregnancy was closely monitored. On the menu: 3D ultrasound scans, Doppler ultrasound, growth ultrasound, fetal heart ultrasound, MRI, home monitoring, betametasone injections… I “lasted” 14 weeks. Héloïse was born by Caesarean section at 34 weeks’ gestation. She weighed just over 1 kg and measured 36 cm. She spent 98 days in the neonatal unit before coming home with her nasogastric tube, feeding bags, cardiorespiratory monitor and… quite a character!
We were soon convinced that Héloïse had Russell-Silver syndrome, a rare genetic disorder that affects children’s growth, but it took many months before the various specialists following her confirmed the diagnosis.
I’ll always remember how excited we were when we first saw photos of Russell-Silver children on the Internet. “Oh, so many little Heloise! At last, we were no longer alone. At last, someone understood what we were going through. I hope you feel the same way when you visit these pages. A site like this is like a lighthouse in a storm.
Sophie, Héloïse’s mother (born in 2008)