Jessica was born at 38 weeks by caesarean section. I had a c-section because of the strong possibility of her having Crouzon Syndrome (see my website: Jenny's Story: My Life with Crouzon Syndrome). Everything went well with the birth and Jessica was placed on my chest so I could meet her. I looked into her eyes and I could not the see the Crouzons but I was positive that I saw something else - something that I considered at that time to be way more sinister. I pushed that fleeting thought away and was thankful to God that my new baby girl was alive and well. Jessica weighed 3330 grams and was 46 cm long.
The pediatrician was busily checking Jessica over and when my husband questioned her as to whether Jessica had Crouzons, the pediatrician answered that she was not sure. The pediatrician even conferred with the obstetrician but nothing was said.
After the birth there was the usual wake up call and the rapid adjustment to a newborn - the trial and error of trying to breastfeed, the dreaded waking up for 3 hourly feeds, and the feeling of soreness after the caesar. But there was also extreme joy of showing off the baby to family and friends.
Every question centred around whether the baby had Crouzons or not. Everyday the pediatrician would pop in and have a quick look at Jessica and would check her head to ascertain whether she had craniosynostosis which is a prime characteristic of Crouzons. Everyday there was the same response - unsure. The only comment the pediatrician made was that there could be fusion occuring because the back of her head was flat (a typical DS characteristic). Jessica also had sandal toes (another DS characteristic) but my other two also have sandal toes. There were other characteristics listed below that the pediatrician either ignored or discounted. The final decision was that there was a possibility she did have Crouzon Syndrome but it would be best to have the genetic testing done to confirm it. Jessica was 4 weeks old when we went to see the geneticist.
Now I have to say that in hindsight, if there was not Crouzon Syndrome in the family, then Jessica would have been diagnosed at birth.
The 4 1/2 days we spent in hospital were fairly uneventful with Jessica. She breastfed really well - astonishingly well, and had a really strong suck. One of the nurses said that her suck was the best that she had felt. She slept and only fussed the night before I left hospital. She had jaundice but the pediatrician thought it was within normal limits so she was not tested.
I left hospital tired and sore but content with how everything had turned out to be so far (and of course having no knowledge that the characteristics listed above were from her Downs not from Crouzons).
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After doing the research for this website I have put together the following list of Down Syndrome characteristics that Jessica displayed at birth:
* sandal toes
* small head
* flat back of the head
* blue feet and hands (acrocynaosis)
* blue mottling on skin (cutis marmorata)
* rough dry skin on feet (xerosis)
* webbing of toes on one foot
* misshapen ears
* slanty eyes
* small mouth with protruding tongue
* short neck
* short, high-pitched cries
In the following month Jessica also displayed:
* poor muscle tone
* constipation
* reflux
In the following month when Jessica had an echocardiogram (ultrasound) it was found that she had a:
* heart defect (AVSD with a common AV valve)