When Shirley* was born six years ago, Mummy was elated. A beautiful baby, Shirley, an only child, was brought up by Grandma until she was about a year old when she kept falling over. That was when the family knew that something was terribly wrong with Shirley. At the hospital, doctors could not diagnose the problem, but could only surmise that Shirley had a genetic disorder.
For the next year, Shirley was at the hospital for countless appointments, but each time, Mummy came out more distraught as there seemed to be no answers and no cure for Shirley. When she was about three, Mummy decided to keep Shirley at home. She would miss hospital appointments and the doctors thought she had given up all hope for Shirley.
Three months ago, the hospital decided to refer Shirley to us, and our nurse made her first visit then. Shirley was all stiff from lack of physiotherapy and her hands and feet had started to curl inwards. She could still eat but also had a feeding tube running through her nose, in case she could not swallow.
We arrived at Shirley’s home to find her fast asleep. She has a headful of jet-black hair, long lashes and looked like any other pretty six year old, save for her left arm and hand, in a cast brace to help prevent further curling of Shirley’s hand. Mummy explained that since she started on a new medication, Shirley had been more sleepy than usual. However, Mummy noted that Shirley’s joints and limbs seem to be softer and more flexible. Our nurse tried to rouse Shirley and she opened her eyes. She gave a big yawn, and I could see one incisor on the top, which had caused large ulcers in her mouth as the incisor cut into her lips. Mummy propped Shirley up against her chest but her head kept rolling side to side and backwards. She could not speak and Mummy lamented that Shirley was chatty when she was one, but now no longer makes a sound.
Our nurse discussed many things like medication, physiotherapy, diet and schooling with Mummy. When we brought up what she would do if Shirley became worse, tears rolled down her cheeks. Mummy said, “I would take her to the hospital and try to save her if there is a chance. If there is no chance, then I would have to let her go. However, she is also a human being, so we need to give her a chance!” Mummy asked why such an illness struck Shirley. Was it because they did not detect it earlier? She compared Shirley with a friend’s son who has the same problem as Shirley, but her friend sought treatment when the boy was seven months old, so he can now walk, eat but she admitted that he is still not normal.
As Mummy was 38 when she was pregnant with Shirley, she did do a test for Down’s syndrome. It was negative and she was happy. After Shirley became ill, Mummy had first contemplated doing a genetic analysis. She knew it was going to cost a lot and the doctor at the hospital had advised that she can take the test if she was planning to have more children. She had no plans after Shirley. Our nurse explained that genes and DNA are quite complicated since a genetic disorder is a genetic problem caused by one or more abnormalities formed in the genome. Genetic traits can be passed through families in several distinct patterns. For example, dominant genetic diseases are caused by a mutation in one copy of a gene. If a parent has a dominant genetic disease, then each of that person’s children has a 50 per cent chance of inheriting the disease.
Before we left, Mummy asked why Shirley’s spine suddenly seemed so crooked and broke down in tears again. She added that the doctor at the hospital advised her that Shirley will not die so soon. So she had agreed to plan with our nurse and social worker to send Shirley to a special school. She also agreed to engage a physiotherapist to work on Shirley.
I feel the pain for mother and daughter. The journey ahead will be arduous for both of them, but our team will walk the journey with the family. We will do all we can to make it less burdensome and tiring for them. We pray for strength for Mummy and Shirley!
*not her real name