I Was in a State of Disillusion - by Joyce Ndungu

It was as if I was never pregnant expect for a bulging stomach. I was extra active, energetic, and even glowing for the nine months. I went about shopping for tiny vests, shorts, and socks, and prepared the room in preparation of the arrival of my baby girl. Yes, I had the sex revelation done before just to be sure we were getting more pink stuff than blue. On the 41st week, 3rd October 2016, I proceeded to check myself into hospital for the induction process.

I could not wait for my baby girl to get here already. I writhed in labor pains all through to the morning of 5th October. I had dilated only 4cm and the baby’s head was stuck in the cervix. An emergency caesarean section had to be done and later that afternoon, baby Zuri was born. No cries rented the air; was the baby really born or was it a still birth? She was immediately taken to the nursery as the doctors concluded that she had congenital and skeletal anomalies, a leopard skin, and a weak muscle tone. Upon recovering from theatre (surgical suite), I was wheeled into the neonatal intensive care unit (NICU), where my baby lay asleep covered in oxygen tubes as she was not able to breathe properly on her own.

There lay my angel in a leopard skin, short neck, low ear set, flat nose bed, widely spaced nipples, single palm crease, and some skeletal anomalies. She later developed an infection while at the NICU and had to stay there to for five days. A pediatric cardiologist broke the news to me that Zuri had two heart defects in the wall between the two upper collecting heart chambers, Atrial septal defects (ASD) and between the two bottom pumping heart chambers, Ventricular septal defects (VSD). He assured me that it would clear with time, but another checkup was required at week 6.

I was in a state of disillusion as this was too much information to digest at once. All alone in the room with the doctor, I could barely hear what she said upon discharge. She was put on occupational therapy as I went about the usual antenatal visits. She was not adding weight and her feeding was very poor. With every clinic visit came new nutritional suggestions and I employed most of them if not all but none of them seemed to work.

Zuri weighed 3.1kg at 5 months. I later conducted a thyroid test, she had hypothyroidism and was put on medication. One evening, she had difficulty breathing and I had to rush her to a pediatrician who conducted an X-ray. Her heart was larger than usual, and she was referred to the cardiologist. Her diagnosis was that she undertakes an emergency open heart operation immediately as she had less than one month to live and since she was underweight, the surgery could only be done in India.

As we prepared to travel, I had a karyotype test done which confirmed that Zuri had Turner syndrome. Thanks to family and friends, we were able to have a successful surgery conducted in India on the 6th of April 2016. I thought all would be fine and went back to work. But this was the beginning of sleepless nights in hospital corridors. Zuri suffered several attacks from pneumonia, constipation, constant high fevers, and repeated ear infections back to back. I was in and out of hospital and on different medication.

Three months of this and I had to quit my job in the bank; my baby needed me. I also stopped the occupational therapy as this strained her heart. I have been managing the condition for 5 years now. She weighs 10.5 kgs. She started growth hormone therapy (GHT) when she turned 2. This is an injection of Somatropin which I give her every day before bedtime and will do so till she gets to puberty. I procure the drugs quarterly from India.

Zuri has occupational therapy (OT), which focuses on improving her ability to perform activities using her hands, including writing, dressing, and using the bathroom. OT also helps to straighten the back. She has three one-hour sessions a week.

Another challenge we face is managing Zuri’s weight. The weight of a normal 5 year old girl is 19kg. Zuri weighs 10.5kgs. Weight management will be done by stabilizing her thyroid functions and through a nutritionist’ diet. As she reaches the age of puberty, she will undergo estrogen hormone therapy and will also have to manage her ovaries before she gets to age 5, hoping she can have children later in life through IVF.

I have since managed to create and register The Turner Syndrome Trust in Kenya. So far, we have brought together 10 parents whose daughters’ have Turner syndrome and have formed a support group. We hope to reach more individuals living with TS and reach more parents and caregivers to make the journey easier for other more beautiful butterflies born with TS. We also had our first Turner Syndrome Awareness Walk last year. The aim of this walk was to create awareness. We invited medical practitioners to talk to the attendees after the walk and answer any questions raised. February is the Turner Syndrome Awareness Month. We are planning a medical and educational camp.