Mothers Name: Zita
Baby: Amelie Maria Sayles
June 26th – July 15th, 2011.
Los Angeles, CA.
When I found out I was pregnant on the morning of October 31st 2010, it was one of the best moments of my life. My husband Aaron and I could not be happier; we were so ready to become parents. It was perfect timing, we were young, healthy, settled. We always talked about having children, now finally the time was here. Being the perfectionist that I am, I wanted to be really organized for when the baby arrived, so I spent every waking hour of the 9 months, preparing for our baby. I read every single book on pregnancy, babies and infants. I spent hours, days sometimes researching the best types of strollers, cribs, diapers, so that when our baby came everything would be just right. I wanted to be as prepared as could be. While pregnant I became even more health conscious than I normally am. From taking pre-natal vitamins, eating more vegetables & fruit, cutting out fish, alcohol from my diet; I did it all. I made sure I wasn’t exposed to VOC’s, I even stopped using the microwave, I did it all. I was so careful.
I was pleasantly surprised how easy my pregnancy was. Apart from the usual morning sickness and tiredness, I had no major complications or complaints. I loved being pregnant, I was so happy and couldn’t wait to meet my baby. Most importantly, according to the doctor’s our baby was developing well and very healthy. All ultrasounds, checkups showed a healthy and beautiful little baby girl. When the genetic screening tests came back, we were relieved to see they were all negative – in fact they were off the charts good, reflecting the likelihood of all standard genetic issues to be extremely small. We even joked with my husband, that of course they were good, we are healthy, young, absolutely no history of genetic disorders in our family. Of course our baby would be healthy! Today, thinking back to this moment breaks my heart. How could we be so naïve? How could we be so wrong? How could we just assume?
Then, on Sunday, June 26th; our lives changed. I was jolted awake after a very vivid and frightening nightmare in which I saw what I can only describe as a monster, a mutation an image that really frightened me. Also I saw a dark shadow coming up behind me to suffocate me….very weird and dark. The most frightening dream I have ever had. As I never have nightmares I just assumed it was a side-effect of pregnancy. As I woke up I had no time to reflect on what I had dreamt as I realized something was wrong. I was sitting on the bed in a pool of water; it took a few seconds to realize my water broke! We were so excited with my husband; we couldn’t believe it was finally time. I was a little ways away from my due date, but I was 37 weeks and 5 days which counts as full term; so I wasn’t worried. Excitedly we rushed to Cedar Sinai Hospital. After 9 hours and a little help from Pitocin and an Epidural, I gave birth to a beautiful baby girl, Amelie Maria Sayles. As I held her in my arms, I couldn’t believe how perfect she was. Looking into her eyes and her in mine, I was in love. This was the most amazing feeling in the world. I wish this moment could have lasted forever.
The doctors suddenly asked to take her from me, they wanted to check and make sure everything was alright. They were worried as her cry was a little weaker than normal and her respiration was a little faster than it should have been. Also they noticed she had what looked like a red blistery rash on her arms and legs. Soon, specialists came in to look at her and concluded the rash was a benign, and that it is quite common in babies called Pustular Melanosis. She was monitored overnight, while I recovered. The next morning her Pediatrician gave her a clean bill of health.
The next day we could not get enough of holding, kissing watching our baby girl. I started learning to feed her; I changed her and did all the things all mothers should get to do. Friends and family came to meet her; she was just so perfect and beautiful. The next day we took her home. Thinking back now, I feel so fortunate that we could do this. We adjust to our new life with our baby, the feeding/sleeping schedules and changes began. At this stage Amelie did seem a little sleepy, but this is quite common in newborns and her sleeping/feeding was going well I had no reason to worry. I did notice the blistery rash on her arms and legs was also on the top of her head, between her hair. They looked puffy and sore but as the doctors said this was nothing to worry about, I tried to not worry. The following day, she was still quite sleepy and I started to have a harder time feeding her, she just didn’t seem interested and wasn’t eating for as long as she should. During the night she seemed uncomfortable and did not want to eat or sleep and kept crying. I was told to expect this by other mothers, so I didn’t think any of it. The next morning we noticed a jerking movement of her arms (a little like a hiccup) and realized it might be a seizure. We called an ambulance which rushed us to Cedar Sinai Hospital. Sitting in that ambulance, clutching my baby, tears running down my face, I knew something was terribly wrong. My worst nightmare began to unfold right in front of me.
We were rushed to the emergency room and admitted to NICU. The nurses confirmed Amelie was indeed having seizures. She was taken from my arms and hooked up to all kinds of machines and tubes. I could hardly see my little girl. The doctors frantically searched for what could be wrong, they started testing her for a wide variety of possible causes including a very rare genetic disorder called IP (Incontinentia Pigmentia); but the results would take 3 weeks. It all remained a mystery. The doctors tried to stop her seizures. During the next 2 weeks, every possible seizure drug was administered, doctors tried to figure out an appropriate cocktail to slow them down. She was put into a coma by the heavy medications so a breathing machine had to breathe for her. I could not see her eyes, hear her cry. Aaron and I remained by her side for two weeks. Our closest family travelled to LA to be with us. We hardly ate or slept. Occasionally one of us would go home to sleep for a few hours. We sat with her, held her hand, sang songs, changed her, held her, kissed her, as much as we could. At one point she opened her eyes and looked at Aaron. Another time she gave me a little smile as I held her hand. We waited for the doctors to tell us more. I remained positive for a long time, even when we got her MRI results back which showed she had inflammation of her brain and had signs of strokes throughout. I still remained hopeful. I had to be strong and positive for my daughter. I put my feelings and emotions aside; it was all about her. To an outsider I probably looked strong, I wasn’t I was just being a mother, it wasn’t about me. The best team of Specialists was involved in her case, they had never seen a baby with such severe seizures. The doctors felt more and more that her symptoms resembled IP the most. Her blistery skin rash and MRI results all indicated IP. It is an extremely rare genetic disorder approximately 1 in 500,000. It is either inherited from the mother’s side (from her X Chromosome) or it is a spontaneous mutation. The symptoms begin during infancy and cause skin pigmentation in adulthood; it may or may not cause eye problems, issues with nails, teeth and hair and in very rare cases affect the Central Nervous System or have seizures. As I do not have any symptoms, we all felt this was very unlikely, but we started to research IP online. There really wasn’t much information out there as it is so uncommon but what we had read that the seizures stop after a few days OR that they can be controlled by drugs. This gave us a little hope.
However, Amelie’s seizures were getting worse and worse. We helplessly watched the EEG monitors with the squiggly lines moving up and down, indicating yet another activity that was our only way to tell. It was so hard to hear the doctors break the bad news to us at the end of the day. We felt so helpless watching our tiny baby hooked up to all of those machines. Her milky baby smell that I loved was now gone. Instead she smelled of drugs and chemicals. I could tell the doctors had lost hope. As a family, we asked questions, made notes, researched, educated ourselves as much as we could, we consulted other professionals. The Neurologist was running out of seizure medications to try. Our daughter was running out of time. There is only so much her little body could take. The team of doctors; geneticists, neurologists sat us down and told us there was little hope. Even if they could stop the seizures, the damage done to her brain was enormous. She would never be able to have a normal life. She had had such severe seizures in those 2 weeks, that by now she couldn’t even breathe on her own. My perfect baby who I held in my arms one minute, who was perfect, beautiful, pink and healthy looking, I thought all was ok now lay in a coma in front of me fighting for her life. How could this be? It was and still is so unfathomable.
On day 19 of her life, she wasn’t able to go on. On July 15th, 2011 an Angel called Amelie was born as my baby fell asleep in our arms. She was surrounded by love and light as we said goodbye her. With Amelie a piece of me also died. Our life will never be the same ever again and she will always be missed every single day.
I found out a few weeks after, that she did have IP (Incontinentia Pigmenti) and also that I had passed it on to her. I gave her life, yet I also gave the disorder that took her life. With X chromosomal disorders, there is no way to know how the symptoms will manifest; I have had 0 indication of the disorder, while my daughter had the most severe type. Even though, our genetic blueprint is identical. There have been no recorded cases of people dying from IP. She had the rarest case of a very rare genetic disorder. The fact that it is something that came from me, I passed it to her is very hard. 9 months on, the shock of it all is still unbearable as we struggle to be in the world without her in it.
Zita can be reached at firstname.lastname@example.org
You can view Zita’s blog at http://anangelcalledamelie.blogspot.com