Immediately she left my body, the pain subsided. All those hours of contorting myself to the sound of my screams culminated in the birth of my first daughter. I sighed as my husband wiped my brow. “You are double back — boned,” he said to me in awe. I was too weak to respond, my thighs trembling from the prolonged birthing posture. When we heard her first cry we turned instinctively to her direction and saw her dangling upside down in the paeditrician’s hands. At first glance, you wouldn’t notice it but I did. My child had an abnormality.
Later my husband would say, he didn’t see it — her short neck. And I only picked it because I had come across an article about genetic disorders that piqued my interest. I didn’t fully understand all the technical terms but I remember a description of a neck that had many skin folds; and my daughter’s looked exactly like that.
I didn’t mention it at that moment because saying it, made it real and I preferred to brush it off as just a thought. Even as I flipped these thoughts in my mind, I heard the pediatrician say to the midwife, “Please note down that her feet are swollen.” My heart sunk. For sure something was wrong. I turned to my husband with a questioning look but he was oblivious. His joy of being a new father — uncontainable.
A few minutes passed and then she was placed in my arms and my anxiety was soon forgotten. She was the most beautiful thing I had ever made. Soon after, *Joy — as we named her — and I were both out like lights. It had been a rough day. If I knew what lay ahead however, I would have slept longer.
At some point in the night, I woke up and tried to feed her but she was so drowsy. She literally had slept from birth to the following morning. When the nurse came by, she discovered she was spiking fevers so they took her away for some tests. No one said anything at that point. The paediatrician later called us to the nursery where Joy was and mentioned that she was suspecting she had a “thing.” I noticed she deliberately avoided using the word ‘condition’ or ‘syndrome’. She however explained that whatever she was suspecting usually affected the heart and advised on a cardiology review for the baby.
Up until this moment, we — my husband and I — had maintained some level of calm. But hearing things like the possibility of a heart defect shook us to the core. We had so many questions but opted to wait for the cardiologist to see the baby that evening. Even as we waited, Joy still struggled to stay awake. She was like a pendulous branch in my arms; and that meant breastfeeding was a challenge. I could feel the frustration creeping in.“Was this part of the ‘thing’,” I wondered.
The cardiologist was prompt. She came over, took the baby and did an ECHO. (This is a test that uses high frequency sound waves to take pictures of your heart). She then called us for a discussion. “We have a problem.” She said, her face an emotionless mask. “Your baby has coarctation of the aorta.” I became dizzy just hearing that word even if I had no idea what it meant. She took a paper and began to draw a picture of a heart. I prayed her medical skills were better than her artistic skills.
She spoke very fast as she drew, leaving no room for reflection. I kept zoning in and out of this discussion waiting for the conclusion to come. In a nutshell, she explained that Joy’s aorta had a constriction that was preventing proper blood flow to the rest of her body. This defect could only be corrected by surgery.
“Is there no other option?” I managed to squeeze in.
“No. Only surgery. It’s also important to know that insurance usually doesn’t cover this because it’s classified as a congenital disorder.”
“So how much will it cost,” my husband chimed in.
“Five hundred thousand shillings.”
We nodded dumbstruck.
“One other thing. We need to do a karyotype on baby Joy.”
“What is that?”
“It’s a test that literally takes a picture of her chromosomes. We are suspecting she may have Turner’s syndrome.”
There it was. The “thing” had been given a name. The room went deathly silent. We felt sandbagged. Who was Turner? What was it? Was it an infection I had picked and passed on to my baby? Was it because I didn’t finish those nauseating iron tablets or because I had done ultrasounds every month of the pregnancy? Why had Turner chosen to inflict my baby?
The cardiologists voice interrupted the silence, “So we will discharge you to go home and I will see you in my clinic in a week. I will introduce you to the surgeon then. We must work quickly because I wouldn’t want your baby to crush while at home.”
I suddenly did not want to leave the hospital. Who wanted to go home with a baby that ‘might crash’? How would we pay for all these tests and worse still for the surgery? I had never faced so much uncertainty and anxiety in my 29 years of life. I glanced at my husband and he had a straight face. What I didn’t know is his feet were paddling frantically under water.
Back at home, I couldn’t take my eyes off Joy. I would spend hours counting her breaths to ensure she was still breathing. I didn’t even know what the normal number was. We googled all we could about this syndrome we had never heard of and the more we searched the net, the more complex it became. As I kept clicking, I found she ticked most of the boxes: puffy feet, puffy hands, widely spaced nipples, short neck and it became more likely that this was it. Not only did it come with heart issues, it was also associated with kidney, hearing and thyroid problems. Sigh.
A week later on Monday morning, we were admitted for surgery. A nurse — who I remember to this day — came and spoke with me and prayed with me and after that I somehow was at peace. The surgery was to take three hours — the longest wait of my life. But in no time they were done; faster than anticipated and they found that what she had was actually a PDA which was easier to repair. ( I will explain what that is at the end — keep reading.) So they fixed the defect and she came out ok; with a battle scar to boot.
We went to see her in ICU post -op and it wasn’t as daunting as I thought. She had pulled through; that was what mattered at that point. The one thing that brightened my heart most was she cried and for the first time, she opened her eyes. And so our journey began.
The karyotype was later done and confirmed what we had all suspected — Turner’s syndrome. Her hearing and kidneys were also tested and found to be normal. When I think about her future, I am encouraged that her vital organs were not affected and the one that was, was corrected. Sometimes the thought of having another child is daunting. What if the missing x chromosome of Turner’s syndrome is somewhere floating about ready to cause another syndrome?
Joy would be described in the medical world as a special needs child. She isn’t. A simple glance at her would not tell you she has a syndrome. She looks and behaves like your everyday child. And she is the perfect depiction of her name — Joy. I am only reminded that she has Turner’s when it’s time for her six monthly review and her growth hormone jabs. From the time she was diagnosed and I started to read about it, I feel it is impossible for me to look at her and feel I was dealt a bad hand. I honestly wouldn’t have her any other way. And the fact that Turner’s is spontaneous means there is nothing we could have done or not done to prevent it. It’s just how God chose her to be and for me, it’s such an honour that He chose me to be her mom.
Narrated to me by Joy’s parents
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A PDA (patent ductus arteriosus) is -in the simplest of terms- a hole in the heart.
Turner syndrome is a genetic problem that affects only girls. It keeps a girl from growing normally and from developing normal ovaries. It can also cause problems with the kidneys, heart, and other organs.
Girls with Turners can be:
●short
●Have a square-shaped chest
●Be born with swollen or puffy hands and feet
●Have a webbed neck
●Have nipples that are far apart
They do not have normal ovaries, so they usually do not go through puberty on their own. That means they do not form breasts or have periods unless they are treated with female hormones.
They also do not grow as much as they should unless they take growth hormone shots.
Girls with Turner syndrome are usually as smart as those without the condition, but they can have trouble with certain types of mental tasks. They can also have other problems, including:
●Heart problems
●Kidney or liver problems
●Thyroid disease
●Hearing loss and ear infections
●Eye problems
How is Turner syndrome treated? — There is no way to cure Turner syndrome, but there are ways to reduce the problems it causes. Girls can be treated with hormones to help them grow to a normal height and to go through the changes that normally happen at puberty.
At various points throughout their lives, they must also be checked for the problems that Turner syndrome can cause. This involves hearing tests, and some tests to check the condition of the heart. If any of those problems happen, they must get treated for those as well.