My name is Monica. Now I am a happy mom but on my way to this I lived through a real tragedy. Actually, when I and my husband John planned to have a child, nothing predicted the future catastrophe. We were both young, healthy and happy. In fact, I got pregnant for the first time immediately after our wedding.
Unfortunately our angel did not stay with us – I miscarried in the 8th week. After talking to the doctors and confronting the brutal statistics we believed that this just happens and we started trying again. We succeeded quite quickly – after few months I was expecting a baby again. This time everything proceeded correctly, the baby was developing normally and I felt fantastic.
We were happy and preparing for the arrival of our wonderful daughter. I gave birth to Amy in the 37th week and I loved her from the moment I first saw her … when the doctors said that they were worried with how the baby looked like and that they suspected a genetic disease, I felt weak at the knees. I remember how John consoled and supported me those days, but I knew that he didn’t believe his words himself.
The genetic tests confirmed our worst suspicions. Amy was diagnosed with a genetic disease, the Smith-Lemli-Opitz syndrome (SLOS). This is a ruthless, terrible disease… our daughter died after 3 months, she couldn’t be treated, couldn’t be saved. Nothing can describe what we lived through those days, I wouldn’t wish these memories on my worst enemy…
Finally we picked up the pieces. We didn’t forget, this is not possible, but we were ready to go on. We still dreamed about a family, we were relatively young (I was 28 and my husband 32). However, this time, before we would make our first attempt at getting pregnant, we visited the genetics specialist. The tests we were subjected to confirmed that we are both the carriers of two different mutations causing SLOS. Every next natural pregnancy carried the huge risk of giving birth to a sick baby.
The team of INVICTA Fertility Clinic undertook to create the solution tailored to us – to develop the method which would allow eliminating the threat. We decided to undergo in vitro fertilization treatment because only in this procedure we could avoid the risk of the disease. Following stimulation I produced four oocytes from which three embryos came into being. Then the doctors collected one cell from each embryo, and checked these cells for dangerous mutations. The genetic testing took two days.
What were the results? Among three embryos, two were healthy while one was affected by a serious genetic disorder. After 10 long days following the transfer of the healthy embryos I did the first test. I was pregnant, with healthy children. Our joy, however, was not impeccable as we were still full of concerns. Did we succeed? After the beta test I waited impatiently for each meeting with the doctors which would confirm that the baby was not at risk.
After 14 weeks we underwent amniopunction. When the results confirmed that our baby was not carrying any mutations causing SLOS, we both burst into tears. Of joy. Just before the due date I gave birth to Jane. She is a wonderful being who each day reminds us that the world is beautiful.
