Rare genetic disorder leaves child struggling

September 11, 2025

Healthcaretoday, Tender Touch Pediatric Rehab, Cornelia De Lange Syndrome, Rare diseases, CDLS, Special needs, Genetic disorder, Special needs parenting, Rare disease awareness, Pediatric health, Genetic Syndrome, Disability awareness, Special needs children,

Nur Zuraifah Ramli gently embraces her seven-year-old daughter Wan Anggun, whose small body battles the devastating effects of Cornelia De Lange Syndrome, as they await another rehabilitation session at Tender Touch Pediatric Rehab—a painful routine that has become their lifeline.

Cornelia De Lange Syndrome (CDLS) is a heart-wrenching genetic disorder that affects countless lives worldwide. This devastating condition presents itself through distinctive facial features, growth delays, and severe physical and cognitive impairments. For families touched by CDLS, every day brings new challenges as they watch their loved ones struggle with basic functions that most take for granted. The rarity of the condition—affecting only 1 in every 10,000 to 30,000 children—means that affected families often feel isolated and alone in their journey, with limited resources and understanding from the broader community.

A mother's discovery
Nur Zuraifah Ramli, a resident of Shah Alam, never imagined that her first child would be diagnosed with such a rare condition. Wan Anggun, now seven years old, was born with Cornelia De Lange Syndrome, a diagnosis that would change their lives forever. "One of the characteristics of Cornelia De Lange Syndrome (CDLS) is physical - as in her face, her mouth - she has cleft palate. Mostly people with CDLS has cleft palate or a highly arched palate. So it's hard for them to suck which creates a problem with feeding," Nur Zuraifah shares with a heavy heart.

The daily challenges
The physical manifestations of CDLS have presented numerous obstacles for Wan Anggun. She relies on a feeding tube connected to her stomach, as oral feeding remains impossible. "She used to use a tube in her nose before, but now we have changed the tube to her stomach, in order for her to breastfeed and have milk. She can't eat orally," Nur Zuraifah explains. The family faces difficult decisions regarding medical interventions, as surgical options carry significant risks. "To operate on the cleft palate might pose a risk to her because her palate is too small. So instead of taking the risk to operate on her cleft palate resulting in her unable to open her mouth, it's better not to do it."

The shock of diagnosis
The journey began unexpectedly for Nur Zuraifah, as her pregnancy showed no signs of abnormalities. "After delivery, a C-section with an emergency scissor, only then did she see the physical appearance of her child with Cornelia De Lange Syndrome," she recalls. The initial shock was overwhelming. "At that time, I didn't know what to do because it was my first child, I didn't have any experience. Even with a normal child, I didn't have any experience, what more a child with this kind of syndrome - a rare syndrome."

Finding acceptance and support
The first month after Wan Anggun's birth was a period of emotional turmoil and gradual acceptance for Nur Zuraifah. "Within a month, I took time to accept the fact that I have a child like this and I need to take care of him, I need to give him treatment, the therapy required and send him to the hospital often," she reflects. This acceptance led her to seek out support, eventually connecting with The Cornelia De Lange Syndrome (CDLS) group in Malaysia, which now consists of 60 families facing similar challenges.

Family planning considerations
Wan Anggun's special needs significantly impacted Nur Zuraifah's family planning decisions. "Due to Wan Anggun's need for special attention and care, Nur Zuraifah gave a gap of 4 - 5 years before attempting for a second child," she explains. The challenges of finding capable caregivers remain a constant concern. "It's really hard because there is no one can take care of her, tube feed her apart from my husband and I. While family members are helpful, only one or two are able to tube feed her."

A lifeline of therapy
A turning point came when Nur Zuraifah met Sharfiza Abdul Aziz, founder of Tender Touch Pediatric Rehab, during Wan Anggun's therapy sessions at UITM Puncak Alam. "I was fortunate too when I was told that the treatment was sponsored. All I had to do is to pay a commitment fee of RM150 per month," she shares gratefully. The progress has been remarkable – from being unable to sit, Wan Anggun can now hold onto a table and take a few steps forward, demonstrating the transformative power of consistent therapy.

The lifelong commitment
Nur Zuraifah understands that therapy for her daughter is a lifelong commitment. "Therapy for her daughter is life-long. She has to obtain treatment at the clinics, pediatric, genetic, rehab throughout her life," she states with determination. Despite the challenges, she remains resolute and strong-willed and says that she refuses to give up on her daughter. The hospital has become their second home, a stark contrast to her life before marriage when she rarely visited medical facilities.

Shattered dreams and new perspectives
The emotional journey has been profound for Nur Zuraifah. "I planned for my future prior to marriage. However, since the birth of Wan Anggun, my dreams were shattered. I feel like my life is dark," she admits honestly. These feelings of despair are common among parents of children with rare diseases, who often question why such challenges have befallen them.

Finding strength in adversity
Through her journey, Nur Zuraifah has discovered a new perspective on life and her role as a mother. "We have to try to change this negative perception that lingers in our thoughts to something positive. Consider it not a test for us, instead as a blessing," she advises. Her message to other parents in similar situations is one of empowerment: "I hope parents who have special abilities children, children with other syndromes those needing care such as my daughter - not to give up because you are a great person. Very great. Other people don't go through such this".

Seeking medical answers
The absence of family history added to the confusion and concern when Wan Anggun was born. "In my family as well as my husband's family - there is no history of children with any types of rare diseases or special abilities. We are all normal," Nur Zuraifah explains. After consulting numerous doctors, a genetic specialist provided clarity: "I recall a genetic doctor who told me that my child has normal chromosomes, but cautioned against making her ill. Her conditioned cannot be changed to a normal child, so keep her healthy."

The CDLS community in Malaysia has taken significant steps toward raising awareness about rare diseases. "The types of rare diseases in Malaysia were collected last month and brought to the parliament to create awareness among the society," Nur Zuraifah proudly shares. This advocacy effort has yielded tangible results, with information about rare diseases now included in the Ministry of Health's online portal, helping to educate the public and healthcare professionals alike.

Rare genetic disorder leaves child struggling

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