The Cat Eye Syndrome International (CESI) Association is co-founded by Sylvie Renault and Alessandro Mocci.
On August 14, 2012, myself, Sylvie, and Alessandro, found out that the baby we were expecting was affected by a rare chromosomal disorder, partial tetrasomy of chromosome 22q11.2 which is associated with Schimid – Fraccaro, or Cat Eye Syndrome.
The dreamed baby, the image of a perfect son that all parents innocently bring in their hearts, crashes in a sudden and rough manner with the reality.
Panic got the better of us and the longest 80 hours of our lives began.
A countdown began due to the fact that August 17, 2012 was the deadline for a possible therapeutic termination of pregnancy so any decision had to be taken by that date. But, honestly, how could we make such a decision in less than three days?
After an exhaustive conversation with Dr..Ferraris, the geneticist of Mendell Institute in Rome who followed up after the amniocentesis examination, he decided to put us in contact with a professional able to perform a complete anatomical scan in order to give us the clearest information possible about the baby’s health situation.
Since this syndrome, aside from the fact that it is very rare, is also extremely variable, the geneticist was not able to predict the possible malformations of the baby according to the duplicated portion of chromosomal material they found and analyzed.
The geneticist extensively talked about of any possible combination of symptoms and the variability of the syndrome, but all these percentages just turned into probabilistic numbers running in our heads. Nothing of what we had been told gave us the real perception of what we were about to go through.
A few hours later, we had our first morphological ultrasounds but it was not possible to check any single detail. The ecographic equipment is not bad, but it is not among the best available as we found out just two days later.
While the awake time overcame the sleeping time, trying to get from the internet any kind of information possible, we just found international medical literature: English,
American, Brazilian (thank God Alessandro can speak five languages!!!) ...and everything we read was devastating. Nothing gave us the hope of a normal life for our baby.
In a continued rollercoaster between a desperate cry and few moments of clarity of thought, we decided to go to the major pediatric hospital - The Ospedale Pediatrico Bambino Gesù (OPBG) - the only place where we could get an answer about the real consequences of the several possible surgeries these little human beings may face to cure the multiple malformations that CES can cause.
We wanted to know whether we would be able to deal with all of the medical complications that could occur in our baby, and we would have been able to accept him with love and which degree of pain he may suffer to survive. All these answers could only come from a further clash with a medical center.
Like ghosts, we wandered along the corridor of the pediatric hospital and we did not know which door to knock on and we started to do it randomly.
It was mid-August holiday and the hospital was almost empty, but our lost sights looking for a light of hope, got in touch with someone that helped us to find a doctor available to help us. Shame, among the doctors we met, we forgot her name.
This doctor works in a Sub-Intensive Care Unit and deals everyday with cases of multiple malformations in newborns, but she did not know Cat Eye Syndrome like any other ordinary doctor - yet.
She was very reassuring and helpful, and she was able to organize a meeting with other doctors and experts the following day, August 16, 2012, to discuss CES and have a more in-depth ultrasound.
In the meantime, we continued our desperate search for information and a chance to focus on the current state of health of our baby. We walked into several hospitals in the capital looking for an answer, but we bumped into very harsh people who gave us no hope. Many of them said we would never be able to get the answers we needed, so it was better to resign and terminate the pregnancy.
These attitudes lead us to start the procedure with compulsory preliminary interviews, but every time we spoke with an abortionist, we strongly desired to keep the baby, and we felt the opposite in the moments we interacted with anti-abortionist people.
For us, it was not a matter of dogma, either one or the other position. We just needed to know and understand in order to deal with the situation the life was asking to face.
On a mid-August night, we found a website dedicated to genetic disorders of chromosome 22 (www.c22c.org) where we eventually found different information about CES, but mostly we found a link to a closed group on Facebook for people or families of people affected by CES.
From that moment onward, the Facebook group turned into our main point of reference. On the group, we saw pictures, read stories and asked for advice. We realized the syndrome is not so terrible as described in the medical literature. We got in touch with many people affected by the syndrome without any phenotypic symptomatology and we found out about other babies that never reach one month of life.
The syndrome is truly variable and the sooner you deal with different medical issues, the more easily you can guarantee CES babies a normal development, coherent with their ages.
For sure, severe cases may occur but they are rare on the rarity. Hopes started to flourish again in our hearts: the dreamed baby reconciliated with the real baby that was growing in the belly, and being more determined to know and understand, we went to the meeting with the experts at the pediatric hospital on August 16, 2012. At first we spoke with the geneticist. We thought we already knew everything, but we were missing the most crucial information: the difference between a clinical geneticist and the one from laboratory. As far as the first geneticist in the Mendell Institute knew everything about the syndrome, the second geneticist in the pediatric hospital knew almost all CES cases in Italy, confirming the same experiences that were shared by parents on Facebook group.
Afterwards, we were even more surprised by the ultrasound scan performed in the pediatric hospital. No other instrumentation had been able to detect like that one and no other operator had been able to get so much information about our son. Honestly, the instrumentation itself is not enough; you need the control of an experienced operator to make the difference.
We found out almost every single detail of our baby's body. The first detail we saw was the one that all previous operators stated we would have never been able to see: the anus. Of course, it is not possible to know whether it is linked or not for sure, there was one fully formed, and that's already great news for us! Then, we were able to see the eyes, the optic nerves, the ears full formed, the heart with its four chambers, and the pulmonary veins pulsating. We also saw a polycystic kidney that may or may not be functioning, and other minor vertebral malformations.
The overall situation for our baby was affordable and compatible with life even though he may have to face some surgeries (which has happened). As far as the ultrasound could be accurate, it showed only the portion visible throughout the mom's abdomen, and some infinitesimal details may be different than what they looked like.
We decided to keep our baby Noel since the experience we lived along those 80 hours and all the persons we met for better or for worse, gave us the opportunity to understand the love we felt in the deep of our hearts for our baby and the fact that whatever comes we could afford it, in one way or another.
We were not alone. There was a group of people in the world and in our city ready to support us.
Noel was born with a major congenital heart defect (CHD), Total Abnormal Pulmonary Venous Return (TAPVR), which was impossible to detect with the ultrasound, and a polycystic kidney as we were expecting.
The cardiac disease was fixed when he was 20 days old, and the affected kidney never worked while the other kidney is compensating pretty well.
Noel experience several urinary tract infections; it seems CES people are more susceptible to infections in the most affected areas of the body.
Noel is a beautiful and sweet baby boy, a very smart one that faces life with the unique bravery and strength thatwe see in common with the other CES kids we learned of.
Last summer, another thing happened.
A mom, exactly like I had the previous year, joined the Facebook group and started to ask many questions to the other members in order to better understand the syndrome and her feelings. Because, when the baby you are carrying is no longer like the one you dreamed, first you question whether you will be able to love him/her for what he/she really is: here is the need to know and understand how he/she will be.
This mom loved so deeply her child - you guessed from the way she used to speak - but she has not been able to hold the baby.
In the country where she lives it is not possible to fix the cardiac malformation the fetus was affected by. She would have to move several months before the birth to Germany and stay there also several months after, remaining alone to face everything in a foreign country since neither her partner nor any other would have stayed with her so long abroad.
Psychologically and financially, she was not able to afford this situation, to avoid to see him or her die, the baby was never born.
I was very close and supportive of her during those days, trying to share the same feelings which motivated us the previous year and this experience boosted the decision to establish this association. I realized that if Alessandro and I would not have met all the persons following one another along our path during those days, and if we had not be so lucky as to live in Italy - and exactly in Rome where we have one of the biggest centers specializing in pediatric cardio surgery - probably even our choice would not have been the same.
Unfortunately, against a lack of medical assistance or the impossibility to afford it, even the biggest love may not be enough.