Carla’s Story

It’s a girl! I was overjoyed when the doctor told me. We had two boys, 2 and 4 years old at that time, we so much wished to have a girl. That was in the 17th week of pregnancy. Everything seemed to be perfect, we had two healthy children, what could happen. We waived additional preventive medical checkups.

There were no abnormalities whatsoever- until the 30th week of pregnancy. During the next ultrasound, the doctor was unusually silent. I had a bad feeling and suddenly he said something was wrong. “Look at the kidneys, both very large, congested and cystic.” I also had far too much amniotic fluid. I felt sick. My gynecologist was always very honest and direct when I asked him what this could mean. A syndrome. Trisomy 18 maybe. He told me to go straight to the hospital for an amniocentesis. The doctor at the hospital was more optimistic. It does not have to be that bad, just wait. The results of the test took 10 days. I think those were the worst days of my life, knowing our daughter was going to be sick or even might not be able to survive.

The result was unremarkable. It took a load off my mind; the doctor was stumped. He was still sure she had a syndrome, but I wanted to finish the pregnancy more positively and hoped that everything would be ok. He sent me to another doctor, in hospital, a nephrologist who was supposed to have better equipment. I went there every week for an ultrasound.

Unfortunately, he also found abnormalities in the baby’s brain. “That doesn’t mean anything, but in the worst case she could be blind.” I was totally insecure. We would have to wait until she was born, we should not worry so much. Easy to say… I was especially scared this time before the birth. I thought maybe she would not make it because she was sick. There was talk of possible adjustment problems and we thought about a C-section. But the doctors advised against it, the adjustment problems could be even harder for her, she was estimated at 4 kg, she would make it. So, we waited.

6 days past the calculated date of birth, on 11.05.2018 was the day. We were in the hospital for a routine check when it started. After 7 hours of being in labour she was delivered with the help of a suction cup. The birth was extremely dramatic, her heartbeat was gone, and everything had to be done very quickly. I felt as if she was ripped out of my body. The room was full of people, doctors, nurses and midwives. They tried to help her, she did not make any noise and did not breathe. I shouted, “What’s happening to her?” After a while, a doctor said she was breathing and now she was going to the NICU for monitoring. “What shall be her name?” – ” Carla”, I said. They would not let me see her. Meanwhile the doctors took care of me, I had atony and lost a lot of blood.

2 hours later my husband was allowed to visit Carla, I asked him to take a picture. She was cute, our baby, but I also noticed that she looked somehow different. I was extremely tired and so glad that she survived the birth.

The next day they brought me to her in a wheelchair. I could hardly see anything of her little face. A cap with a breathing mask covered it. She also had a feeding tube for the milk. I was allowed to take her in my arms and fell in love immediately. She had her tiny hands clenched in fists. Her little toes were slightly above the other toes and her ears looked a little deep out of her cap. “All very obtrusive, she even has a special voice” the doctors said. A team of geneticists would look at her in the next few days. I could not breastfeed her and so I went every day and tried to bottle-feed her my milk, it was very difficult. She always had too little oxygen and had to be supported.

Carla’s brothers could see her after 3 days. They had so many questions, I hoped I would soon have an answer. After one week I was able to go home. Carla had to stay for another week, then she was stable that she was transferred to the children’s hospital.

When the boys were in kindergarten, I was at the hospital with Carla helping her to practice drinking. Carla learned fast but she still had to use the feeding tube for milk. She had some tests that confirmed what we knew. Bilateral hydronephrosis and underdeveloped corpus callosum. Her eyes and ears could not yet be examined properly. Each kidney had 50% function, and her blood levels were good. So, if she learned to drink, she may go home. Thanks to the help of the nurses, we managed to achieve this. She was finally able to go home after a total of 5 weeks.

After 3 weeks was the first suspicion of Schinzel-Giedion Syndrome. Even the doctors had not heard of it yet. They would test for it. We did not want too much information about this syndrome until the final tests were done. We wanted to wait and see if it was confirmed or not.

The day I picked her up, I was full of joy. Finally, I can take our baby home. The doctor asked if I was alone, or if I needed to be picked up. I was alone, my husband worked all day and could not come. She wanted to talk to me before I went home with Carla.

She had good news and bad news. The good news is we have a confirmed diagnosis of Schinzel-Giedion Syndrome. And they got it quickly, which is not easy, because it is an exceedingly rare disease. But it would have been worse not to have a diagnosis, not to know what is wrong with her. The bad news was the consequences of this diagnosis. She would not tell us earlier. The child has a life expectancy of about 2 years, will develop very slowly, sometimes hardly at all. I was shocked. I wondered: “What could be worse than this prognosis?” I was devastated, phoned my husband immediately and told him everything. I waited with Carla for a while until I calmed down and went home with her.

I did not want to believe it. This day, which was supposed to be so happy, turned into a sad day. I bathed Carla and while I was massaging her, I talked to my friends on the phone. “I love my daughter, we will enjoy the baby time, as normally as we possibly can.” I did not want to learn more about this syndrome for a while…

It was a nice first summer with her. Carla was physically very well at that time. We wanted to make the time she had as beautiful as possible. I avoided any idea that she might not be with us for long and started to have faith in her. She was so cheerful, always sweet, cried little and slept well at night. The sucking on the bottle got better and better and I was able to calm her down most of the time by cuddling and holding her hands.

We celebrated Carla’s christening that very summer, we were afraid that her condition might decline. Before we took her with us on our summer holiday, we had to have some tests done. Will she be able to come with us? After a short time, we no longer needed the feeding tube. It was tedious and took a long time, but Carla managed her daily milk rations. The nephrologist was also satisfied: – Nothing has changed. Carla’s blood values are fine, the kidneys are working well. She hardly needs any support, no oxygen, hardly any medication, just antibiotic prophylaxis.

The holiday was great, we were in the mountains and I was able to take Carla with her 4 kg everywhere. Our family and friends accept and integrate her as she is. A wonderful experience, everyone had her on their arms and was interested in her, that gave me incredible strength. At the end of the holiday she would start to regurgitate a lot, the milk came out of her nose. I was worried, but her condition improved again, and it only came in transients. She choked more often, but we learned to deal with it well.

Soon we noticed that she was having seizures, more and more often. Her sleep got worse and she became very restless in the evening. After an EEG, she was given medication for epilepsy. She had more and more mucus and had to inhale more often to cough up the mucus. She often had a rhinitis and could hardly breathe. I became more and more worried: – Does she need a feeding tube after all?

Up to then we had always refused to accept this. I am always so happy when she drinks, one can really see how she likes it. I started to learn about Schinzel-Giedion Syndrome. I wanted to help her as much as I could and felt very alone. Nobody really knew about it. It became more and more obvious over time that she was not really developing well. We suspected that she could not see at all or only poorly, she hardly reacts to sounds. She does not reach for things and is rather apathetic. She does not cry and she does not laugh.

I searched the internet and found a story about a girl, with beautiful pictures. I read it, I think, three times. It was the first time I saw pictures of a child with this syndrome, and they all look so similar. It was a story written by the family, not by doctors. Experiences and feelings of people who are going through it themselves, like we are. It helped me so much. I was impressed by the love and strength of this mother. I wanted to be strong too. I also wanted to be there for Carla. What good is it for my baby if I cry, if I surrender or if I am sad. I want her to feel that I love her and will always be here for her.

Shortly afterwards we had an appointment with a geneticist. We were to be tested and Carla was examined. The doctors were very interested in her and had never seen a child with this syndrome before. We did not really get answers to our questions, just statistics and tables were shown to us. We were given forecasts about her short life expectancy, her poor mental and physical development. As expected, our genetic test was without result. Carla’s genetic defect is a new mutation. The geneticist pointed out to us that there was a Facebook group. I was very curious and willing to meet more parents. I received a very warm welcome and was overwhelmed by the many testimonials and pictures. A great community and support, for which I am still infinitely grateful.

The list of drugs has become long now, and it has not always been easy to administer everything to her orally. She is given medication for constipation, for flatulence, two drugs for epilepsy – which we have better, but not completely under control yet – and a sleeping pill and sedative. Along with the increased number of seizures, her sleep was so disturbed that she could not sleep for weeks and cried hysterically at night. That was a hard time for us. My husband works during daytime. While the boys are in kindergarten and school, I often have appointments with Carla, or we spend time at home or with friends. My parents moved to live with us, my mother supports me a lot and now we also have a home help, which is partly financed. So, we get along well.

Carla is developing very slowly, but we do as much as possible to support her. We go to physiotherapy once a week, Carla likes that very much. She likes to be moved and loves to be massaged. Once a week she has early vision support, we play a lot with lights and sounds, to try out what she likes. Carla makes very little progress, but she usually seems relaxed, opens her hands, can turn her head and lift it slightly. If leaned back against support, she can sit for a short time. She cannot see well, but she follows bright and colorful lights with her eyes. She also has hearing aids, but unfortunately, she still does not respond well to sounds. That is why we focus on the sensory aspect. Cuddling, caressing, putting lotion on and bathing, she loves that. Sometimes she smiles for a short time. I know Carla well, she does not have much expression on her face, but I can see exactly when she feels good, has pain or is angry.

We try to avoid unnecessary procedures and tests; we do not want her to be tormented just to get another diagnosis that can’t be changed. We do whatever is necessary so that she can live without pain. Of course, we undertake all preventive and routine examinations. We have met such great people, great doctors and nurses who have impressed me very much and to whom we also like to come.

Carla is now 2 years old. She is almost blind and almost deaf; she will not be able to sit or walk. She will not speak. Sometimes I am sad when I see children her age playing and romping, I wish the same for her. But we have accepted that Carla’s world is different. It does not matter what she cannot do, it’s important that she is doing well and that she can enjoy the life she has. And she can do that, everyone loves her, our family, our friends and acquaintances, everyone accepts and integrates her. Everyone is very understanding and respectful towards her and towards us. I am incredibly grateful and proud that we have such a great family and friends who do not turn away but stand by us and are there for us. We love you; we thank you!

“Life’s a bed of roses”, that was my slogan in life. To regard everything as positive as possible. With Carla I had to learn painfully that life is not always bedded on roses. But I would like it to be – and so we now live together with Carla in our rose garden. And it is good the way it is. It was not easy to write about Carla, such feelings can hardly be put into words. I hope that Carla’s story will be going on for a long time to come.

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