OUR STORIES
Dhia (GNA01 [Early Infantile Epileptic Encephalopaty])
GNA01 (Early Infantile Epileptic Encephalopaty)
Profile
Name : Dhia
DOB : 2018
Disorder : GNA01 (Early Infantile Epileptic Encephalopaty)
The Long Road to A Diagnosis
Saifol and Nur’s second daughter Dhia was born in 2018. After her birth everything was as they expected, there were no signs of any differences between her and other babies. But after 6 or 7 months she was not developing according to the ‘typical developmental’ charts of her doctor. They sought further medical checks, and at around 8 or 10 months, Dhia had blood tests. In 2019, when Dhia was around 1 year 7 months old, and during the pandemic, she had an MRI. The result showed that Dhia’s brain looked normal, with no visible differences. The final test to do was genetic, and this was done at KL Hospital. Dhia’s family had a long wait for the results and it wasn’t until around 6 months later, in February 2022 that a diagnosis of GNA01 (Early Infantile Epileptic Encephalopaty) was given.
Absorbing The News
Like most RD parents, Saifol and Nur found it hard to accept Dhia’s diagnosis at first. They had never encountered GNA01 before and had no idea what to expect or what would be needed from them as Dhia’s family. During a more detailed doctor’s consultation they were given examples of cases from around the world (which are only 200 in total). They also educated themselves about the disease through detailed reading and studying articles. Learning as much as they could about GNA01 helped them understand what would be required of them as Dhia’s parents, and their hearts became open to doing whatever was needed for their daughter.
Challenges And Steps Forward
Dhia happened to be admitted to hospital at the same time as her diagnosis, due to fears that she was aspirating milk onto her lungs, something which has a high level of risk including pneumonia. She ended up staying in hospital for a total of 5 months, and at her doctor’s suggestion a feeding tube was fitted, so that she could consume milk more safely. Dhia is currently still unable to take solid foods and her diet is 100% milk based, however her parents are looking forward to a G-tube (Gastronomy tube which brings nutrition directly to the stomach through the belly) being fitted as a next step. This will make feeding easier, and will enable Dhia to take solids via the tube instead of milk alone. At the moment, Dhia’s feeding tube is changed every 7 days, and her parents have also been trained to change it – something most parents never even need to imagine having to do. They also have to suction Dhia’s mouth sometimes. All of these things are challenges, but Dhia’s parents do whatever it takes to look after their daughter and to make her feel more comfortable.
After receiving Dhia’s diagnosis, her parents decided that one of them should devote their time to being her full time carer. Saifol works and Nur stays at home to ensure Dhia’s medical and daily care needs are met – this is a full time job. Dhia cannot sit properly, and needs various therapies including occupational therapy to help with muscle tone and movement. Her speech is also delayed. Dhia’s big sister often wants to help with Dhia’s care. With the help of her parents she is learning why her little sister cannot move, eat or play like her. In spite of mobility and speech difficulties, she still finds ways of playing with her little sister.
What Helps?
Therapies such as occupational therapy are helpful – beyond their practical importance for Dhia, they also help her parents to connect with other RD families they meet when they attend the OT centre. They have met a few families, and although they have never met anyone with Dhia’s specific diagnosis, they relate to other parents of children with various rare diseases due to the many similarities in their journeys. As many RD parents find, Dhia’s parents also find it tough to hear advice given by those without direct experience of rare diseases – they tell them to ‘be patient’, ‘be strong’. Deep in their hearts they know that other parents of children with rare diseases are the only ones that truly have any understanding of what they are living.
It is hard to think about the future and this is not something Dhia’s parents focus on – staying in the present moment works best for them. They know they will always try to make their daughter as comfortable as possible, and it helps them to see this as part of the duty God has given to them.
