You can stunt my growth, not my spirit

When Loise Wambugu and her husband Maina learnt that they were expecting their first child, they were ecstatic. And couldn’t wait to meet their baby. But six months into the pregnancy, they went for a routine prenatal examination, only to be told that there was something wrong with the baby. The fetus, they said, was not growing and seemed to have a growth on the neck.

‘’The doctors suggested we terminate the pregnancy because the baby could not survive outside the womb. But they changed their minds about the termination after a later examination revealed that the baby’s organs were functioning well.”

The baby had Turner’s Syndrome, and Loise was advised to nurture the pregnancy and once delivery time came, the doctors would intervene.

Finally, in April 2011, Loise delivered baby girl Elsie Wambugu.  And thus began a journey into preparing for what lay ahead.

The curious parents would look at the oblivious little girl and to undiscerning eye, she was as perfect as any other newborn, but they could see the signs of the disease on her. It was in the short, webbed neck; in the low hairline. Her nipples were also too far apart and had swollen legs.

The doctors told Elsie parents that the baby had heart defects; the aorta (carries blood away from heart to the body) had constrictions, one of the kidneys was not functioning well and her body was not producing growth hormones.

 “We realised that all these issues were caused by a missing chromosome. The doctors advised us to get her in for heart surgery immediately.”

 An eight-day-old Elsie underwent a successful surgery and was discharged from the hospital two weeks later. Now at home, the new parents had to grapple with the challenges that were all too new for them.

“Elsie could not breastfeed well. She wasn’t able to suck out the milk from my breasts. The hospital had given me some baby formula which I mixed with my breast milk and spoon fed her,’’ explains Loise.

The baby didn’t seem to be growing. She wasn’t talking or walking when she should have been, but because the doctors had warned them, they were patient.

“One cannot tell she is sick unless you see the scars on her neck. The doctors had advised us to stop looking online for information and that we discuss our concerns with them during our next appointment,’’ says Maina.

Finally, the little girl could walk, and she even joined school. Unfortunately, other pupils would pick on her because of her short webbed neck and her parents decided to withdraw her from school. She underwent her second surgery at four years to correct her neck.

Raising Elsie has been a bitter sweet experience for the parents. Between worrying about their little girl and adjusting to her care demands, they have a lot on their hands.  For Loise, her biggest challenge is finding someone reliable to train on Elsie’s home care.  For Maina, taking his daughter to theatre was his scariest experience.

 “The surgery took too long; from early morning to 3 pm. When she came out she was crying ceaselessly but didn’t want me to hold her probably because I am the one who had brought her in for the surgery.” Finances are a problem too as most insurers don’t cover congenital diseases ?

 Elsie is now 8 and making her parents proud in school. They hope to put her under growth hormones medication to boost her height.

Loise says the growth hormones are not available in the country and have imported them. They are hoping that it all works out for their little girl. In the meantime, they pray that she will grow into her greatest potential and love herself as she is.

“As a mom I hope she will share with me any worries she has so we can tackle them together. I pray she appreciates the way she was born.”

WHAT IS TURNER SYNDROME?

Turner syndrome is a condition that affects only females. It is not inherited but results when one of the two X chromosomes (sex chromosomes) found in women is missing. “The syndrome may be diagnosed before birth, during infancy or in early childhood,” says Dr Lucy Mungai, a pediatric endocrinologist. An ultrasound during pregnancy can detect the condition.

“The short neck can be detected in utero,” she says.

 Turner syndrome can cause a variety of medical and developmental problems such as:

·       Short height. “Growth hormones can boost their heights by 5 to 7 cm,” says Dr Mungai.  

·       Failure of the ovaries to develop. “Growth hormones can help the luteinizing hormone to simulate the work of the missing ovaries, says Dr Mungai.

·        Heart defects. This can be managed by a cardiologist.  

·       No breast development

·       Most of the girls don’t get their periods because of low estrogen levels