“It’s a very hard period, during which we are not well, we are in uncertainty… But when we get out of it, it’s only happiness! says Élise, 37. “And then today, she punctuates, we accepted the diagnosis”.
DiGeorge’s Syndrome
Two years ago, the Morbihannaise discovers that she is pregnant. The couple she forms with Julien, her husband, already have three daughters. But “surprise”, this time she is expecting twins. Follow-up is done at Quimper hospital. During an examination, excess amniotic fluid is observed in the pouch of one of the babies. The results of the amniocentesis reveal that Raphaël suffers from a genetic disease: DiGeorge syndrome. The risks ? “A deformation of the face, major heart problems, holes in the heart, an anomaly in the palate”… Online with the gynecologist, Élise “collapses”: “I don’t know what it is, I do not understand. My husband then picks up the phone and the doctor explains everything to him. She also tells us that it is possible to terminate the pregnancy for this little baby”. “Impossible” for the couple, who decide to continue.
The key role of the kangaroo unit
In January 2021, the delivery is therefore scheduled at 37 weeks in Quimper. A “perfect” delivery for Tom, who points the tip of his nose first. For Raphaël, “everything is racing”. His heart rate drops, the doctors fail to get him out. A caesarean section is necessary. Immediately afterwards, the baby goes to neonatology. The minutes pass. Endless. Until Julien can finally give some news. Raphaël has no abnormalities in his face, palate or esophagus. On the other hand, he has “a big heart murmur”, “a small hole in the heart” and “his body does not fix calcium”.
The exams will follow one another for several days. The service has a kangaroo unit. She will allow Élise and her two boys to occupy the same room. “What was important, supports the mother. I didn’t want to leave them anymore. Having them both was priceless! It was our strength”.
“A little boy like the others”
Raphaël is then followed by doctor Queinnec. “An exceptional woman, testifies Élise. She takes the time to explain. She knows how to find the words to reassure. Because we are completely helpless. When I gave birth, I was just crying. It was a joy, but we knew it was going to be so complicated… To have a team like that in Quimper, such a human team, it’s great”.
After 14 days, it’s back home… And the meeting with the big sisters. “Magic”, recalls Élise. But this is not the end of the journey. The consultations are always linked. The little one must be treated for his calcium, for his asthma… At one year old, he had heart surgery in Nantes. A heart “which is repairing itself quietly”, savors the mother. Yes, Raphaël is “smaller, thinner”. “He gets tired a little faster.” But, insists Élise, “he’s a little boy like the others”.
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