Who is Grace?
Grace was born on 21 November 2008 prematurely at 34 weeks old. She was diagnosed with a genetic condition known as Pyruvate Dehydrogenase Complex Deficiency. Because of this condition, her brain was not fully developed and she has Partial Agensis of the Corpus Callosum (PACC).
She had low muscle tone resulting in silent aspirations. So the initial few years was focused on early intervention therapies including safe feeding, gross motor skills, baby massages to relieve her gastro issues due to low tone. Grace is on strict Ketogenic Diet as the only lifelong “treatment” to counter the lack of energy and cell production from carbohydrates. Aside from that, she is on various therapies to continue to help her overcome global developmental delays.
Grace is turning 12 soon. She obviously outgrows her walking aids and pushchairs through her growing years.
Till date, Grace’s capability remains at a neuro age of under a 2-year-old, learning to walk independently, unable to verbalise. She is currently attending school at Rainbow Centre Margaret Drive School.
As working parents, the family is highly dependent on a good caregiver to take care of Grace. The family views respite care as essential for any caregiver or parents to be able to sustain long term care for Grace.
Grace is on strict Ketogenic Diet for life. Her milk powder Ketocal is 80% fat in powder form is considered a medical diet supplement. There is only one manufacturer in the world. It is expensive milk powder and Grace consumes one tin in 5 days.
Grace does not have silent aspirations any more. She is stronger in muscle tone now but still unable to walk independently. At the same time, she is growing quickly. So we have to keep changing her AFOs/Push chair/Seats. Fortunately, we are blessed with a walker from a donor that was arranged through RDSS. And this walker can last her for at least 2 more years.
RDSS has provided huge support platform, especially emotional support with families facing some stress and caregiving issues, therapy needs.
We receive reimbursements to help defray expenses although the amount is negligible as compared to the expenses.
The get-together sessions organised are valuable as the family finds it stressful to travel out on our own. When we have volunteers and the medical team with us, as wel as support from other families, we can then truly relax and enjoy.
The opportunity of participating in Voices of Rare at the annual Purple Parade, among many other outreach programs is important for the family to create awareness and promote inclusivity of patients with rare diseases.
Many people do not know how to react, express their care when they see any special needs child. We need to continue to share our stories and vocalise our expectations so that people become more comfortable.
For us, Grace is like any other babies, need to be coaxed and entertained. So just make her laugh like what you would do to another baby.
Love is not Rare.