​Being diagnosed with a spinal cord disorder changed Ms Pamela Loh’s life. Sessions at the NNI Genetics Clinic helped provide her with a clearer picture of how to manage life moving forward.

Three years ago, Ms Pamela Loh* suddenly felt an odd tingling sensation in the soles of her feet. After conducting her own research online, the 37-year-old marketing manager decided to consult an NNI neurologist, who suspected that Pamela had hereditary spastic paraparesis. This spinal cord disorder disrupts signals that the brain sends down the spinal cord to the muscles, resulting in muscle cramps, spasms and difficulty walking.

Things began to click in Pamela’s head. Ever since she was a toddler learning to walk, she had always experienced issues with her gait. “My legs were weak and limp; I was always tripping and falling easily. This has followed me into my adulthood,” she shared.

Confirming the diagnosis
At that time, Pamela and her husband were exploring the idea of having children. Her neurologist referred her to Dr Kaavya Narasimhalu at the Genetics Clinic, NNI@SGH Campus, for genetic testing to confirm the diagnosis and discuss potential family planning issues. After discussing with her husband, Pamela decided to have the blood test.

The results confirmed that she carried the mutant gene for spastic paraparesis, and if she became pregnant, there would be a 50% chance of her child inheriting the gene.

Impact on family and family planning
Pamela shared her diagnosis with her immediate family members, all of whom decided to undergo genetic testing as well. Her brother’s test came back positive and they are now awaiting the results of his three-year-old daughter.

The next step for Pamela was to discuss the implications of her bearing a child. She was referred to NNI’s partner hospital, KK Women’s and Children’s Hospital (KKH), where a clinical geneticist with experience in reproductive issues shared some options to minimise the chance of passing down the gene. These are:

• In-vitro fertilisation (IVF) to select eggs that do not carry the mutant gene
• Natural conception with subsequent placenta test to find out if the embryo carries the mutant gene

Lifestyle changes needed
Besides worries about the well-being of her potential offspring, Pamela had more immediate concerns regarding her own health. The long term effects of spastic paraparesis include worsening mobility and bladder issues, such as incontinence or urinary retention. Pamela currently faces some level of uncertainty as the disease's progression is not a fixed path.

While there is no cure, physiotherapy and exercise can help to improve muscle strength and relieve symptoms. Pamela intends to take up yoga or Pilates together with her husband, and explore physiotherapy later this year.

"Although the results were not ideal, I am thankful that I decided to go for genetic testing. The silver lining was that I finally had clarity on the cause of my walking issues. Knowing what is ‘wrong’ with my body allows me to take the right actions to minimise my symptoms," said Pamela.

*name has been changed to protect the patient’s privacy

This article was published in the National Neuroscience Institute's NeusLink magazine, which covers articles about NNI updates and brain, spine, muscle and nerve conditions in English and Chinese - to read more articles click here!

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