Julie's story started in July 1998. When I was 19 weeks pregnant, I went to the hospital to do my first echography exam, they found a major malformation on her abdomen , the first thing they told me it's the baby will probably not survive and they didn't want to tell us the sex of the baby. After the test we were in shock and we called our doctor.  They referred us to another hospital only for children in Montreal.   3 days after we went there to do a second echography and we learned that the baby had an omphalocele. They told us in this case the baby had 60% of chance to survive but we needed to do a cardiac ultrasound and amniocentesis to test for major cardiac malformation and trisomy.  The final result came 1 month later and they told us everything was fine but they found only a small deviation on 1 gene but it's not associated with any major thing.   At the same time, me and my husband got or blood results and everything was fine. At this point, the news was good and they finally told us the sex of the baby, a girl!! We were so happy. They explained to us at the same time want kind of surgical intervention they would do when the baby was born and the rest of my pregnancy was  good in general.  At 39 weeks and 4 day, I had the baby by cesarean because the omphalocele was really big with liver and bowel inside.  When Julie was born, she was a really big baby, 10 pounds and 3 ounces, 23 inches. I had a lot of amniotic liquid and it splashed everywhere.   When she was born, Julie's respiration stopped and they needed to do resuscitation, she also had hypoglycemia.  After 5 hours, they made the surgical intervention to fix the omphalocele and everything went really well.

 

After 1 week, when I went to see Julie, a lot of Doctors were around them, I ask why everybody was there and we learned at this time of Beckwith-Wiedemann syndrome.  We did not understand why they did not told us of this syndrome during my pregnancy because it's association.  For us, it was really hard to accept that because after the surgical intervention Julie's health increased day after day and  we were thinking that all the bad news was finished.  When we asked for more explanation they were not really clear on the syndrome because they did not see that a lot of time before and it's different for everybody.  When Julie born she had the omphalocele, ear pits, hypoglycemia, big tongue, big baby, neavus flamus, enlarged kidney, small cardiac malformation.  Julie stayed 18 days at the hospital and the most difficult thing was for drinking milk.  She took around 1 hour to drink 1 ounces and she lost 2 pounds.  For all the other things Julie was a wonderful baby.

 

Now she is 6 years and 9 months, she's still big, 55 inches, she started school last year and everybody thought she was 9 or 10 years.  At the school, she's in the average for learning so we are happy.  The most difficult thing is the language, for the last 5 years, she has seen every week a speech therapist. She never got a tongue surgery because in our country the doctors don't agree with that, they told us that the mouth will grow faster than the tongue and with time they will be fine.  When I saw all the pictures of children with BWS before and after the surgery I'm not sure if we did the right thing.  Julie also had a major problem with mouth muscles and it's the reason why we needed to do speech therapy, maybe they will need to fix that soon with surgery.  The medical follow up we need to do with Julie now is: speech therapist every week, abdominal ultrasound each 3 months, geneticist every year, pediatrician every 6 months, audiology exam, craniofacial clinic and physiotherapist every year,  optometrist every   6 months and at 12 years she needs to consult our surgeon for omphalocele and cardiac malformation.  Also when Julie started school they recommended a neuropsychology exam to know the strengths and weakness of Julie.  The result was good in general and they help us a lot to help Julie to achieve her potentiel at 100%, now we are able to improve her weakness in using her strengths, they help a lot.  We learned at this time that Julie had a deficit of attention and she's very impulsive. This was caused when she born because she missing oxygen.  So to know that we are more patient with Julie and we developed different methods for her education. I recommend this exam to everybody, we learn a lot during this process of around 20 hours.

 

Julie is a really happy girl and she likes swimming, drawing and painting, she's really artistic.  She plays and does everything like every child the same age. Julie's sister is 3 years and 8 months and she does not have the syndrome.  They developed a really good relation together.  Julie is a shy person but she's cordial, helpful and captivating.  She loves learning new things and she like school, everybody loves her and she has a lot of friends, she helps all the others to get thing in their locker.   She also likes the medical appointments and helps the doctors. For us, she's a child like all the others and she bring us a lot of happiness.  It's sure sometimes we are anxious and it's hard to do all the medical follow up but day after day we learn to deal with that and it's nothing if we compare that to all things Julie bring to us.  To have a different child gives us the chance to see life differently and we realize the real value of the LIFE,  for us this experience is a good step in our life and we have grown a lot and in a good way.

 

Nathalie, mother of Julie