Leora Lim’s arrival in 2021 was supposed to be a moment filled with pure joy and endless hope. Her parents had waited eagerly for her birth, envisioning a future filled with laughter, milestones, and cherished memories. But just three days after her birth, the unexpected happened. Small rashes appeared on her delicate newborn skin, turning into painful boils and blisters almost overnight. The sudden change left her parents, Hazel Ng and her husband, in a state of fear and confusion.
Desperate for answers, they took Leora to a paediatrician, who referred them to a dermatologist for further tests. Days turned into weeks, and the uncertainty weighed heavily on their hearts.
Then, the diagnosis came: incontinentia pigmenti (IP), a rare genetic disorder. The words hit them like a thunderclap, shifting their entire world.
“When we heard those words, it felt like our world had shifted,” Hazel recalls.
IP, as they soon learned, was a rare genetic disorder affecting the skin, hair, teeth, nails, eyes, brain, and central nervous system. Each blister and mark on Leora’s body told a painful story, but behind each scar lay her quiet strength.
Understanding Genetic Disorder Challenges
Source: Ms Hazel Ng
The reality of living with a genetic disorder like IP goes far beyond skin deep. As Dr. Mark Koh, head of the dermatology department at KK Women’s and Children’s Hospital (KKH), explains, the condition can involve neurological challenges like delayed development, intellectual disabilities, and seizures.
“Every time a cell splits, the DNA needs to be replicated; otherwise, there is not enough DNA to split into two cells,” Dr Koh told ST.
“So when a cell splits, the two need to ‘re-spell’ everything, that is, copy everything out again. It is not photocopying but more like manually typing, so errors occur.”
While around 90% of patients manage well neurologically, the uncertainty is still daunting for any parent.
Source: The Strait Times
Dr Koh also said: “(Girls with IP) can get new blood vessels forming at the back of the eye. These vessels are very fragile, so they break easily and bleed into the retina. The girls can go blind.
“About 40 per cent to 50 per cent of our patients have this eye issue. So we always refer them to the eye doctors, the ophthalmologists, and they undergo (laser treatment) very early to treat these blood vessels.”
The Emotional Toll of a Genetic Disorder Diagnosis
Source: Incontinentia Pigmenti Stages – National Foundation for Ectodermal Dysplasias
Receiving a genetic disorder diagnosis for your child can feel isolating and overwhelming. Hazel shared how difficult it was to process her daughter’s condition, especially after discovering the genetic mutation in Leora’s X chromosome.
“While I tested negative, Leora’s results confirmed (what is known as) a deletion on her X chromosome. It was heartbreaking. As her parents, we felt overwhelmed with questions, fears and the weight of the unknown,” she told The Straits Times.
Yet, with time, the family found ways to cope, drawing strength from Leora’s courage and resilience. Each scar on her body became a testament to her battle, with Hazel affectionately calling them her daughter’s “tiny battle marks.”
Life Lessons from Leora’s Journey
Resilience matters. Leora’s story is a powerful reminder that even the smallest among us can display remarkable strength. From the very beginning, she faced challenges that many adults would struggle to endure, yet her spirit never wavered. Her courage became a source of inspiration for everyone around her, showing that strength isn’t measured by size but by the will to keep going.
Seeking expert help was a turning point for Leora’s family. Consulting specialists gave them clarity and understanding of her condition, replacing fear with knowledge. With each consultation, they gained insights that helped them make better decisions for Leora’s care.
It wasn’t just about medical advice—it was about finding hope through expertise.
Embracing support systems made all the difference. Hazel quickly realized that she couldn’t do this alone. Leaning on family, friends, and a compassionate team of medical professionals created a circle of care that lifted them during the hardest moments. Sharing the emotional weight and having others to rely on brought both comfort and strength.
Education became Hazel’s anchor. The more she learned about Leora’s condition, the more confident she felt in providing care. Knowledge turned fear into empowerment, guiding her through the complexities of treatments and daily care routines. It gave her the tools to be not just a mother, but a fierce advocate for her daughter’s well-being.
Through it all, they cherished the small victories. Every milestone, no matter how minor, was a reason to celebrate. From successful eye treatments to managing skin conditions, each triumph became a reminder of progress.
These moments, though small, held immense significance—they were proof of Leora’s unwavering fight and the family’s love and perseverance.
Tips for Parents Facing a Genetic Disorder Diagnosis
Source: Azmi Athni
Receiving a diagnosis of a genetic disorder for your child can be an overwhelming experience. Parents often find themselves navigating a complex web of emotions, medical jargon, and practical challenges. However, with the right strategies in place, families can manage this journey more effectively. Here are essential tips for parents facing a genetic disorder diagnosis.
Stay Informed, Because Knowledge is Power
Understanding the specific genetic disorder affecting your child is crucial. Researching the condition can empower you to make informed decisions regarding treatment options, therapies, and daily care.
- Learn About the Condition: Familiarize yourself with the symptoms, potential complications, and available treatments. Reliable sources include medical websites, peer-reviewed journals, and genetic counseling services.
- Ask Questions: During medical appointments, don’t hesitate to ask questions. Write down your concerns beforehand and bring a family member or friend to help take notes. This ensures you leave with a clear understanding of your child’s condition and care plan.
- Connect with Specialists: Seek out healthcare professionals who specialize in your child’s specific genetic disorder. They can provide tailored advice and support based on their expertise.
Build a Support Network—You Are Not Alone
Creating a robust support network is vital for emotional well-being and practical assistance.
- Join Support Groups: Connecting with other parents facing similar challenges can provide invaluable emotional support. Look for local or online support groups dedicated to specific genetic disorders.
- Engage with Online Communities: Social media platforms and forums can offer a sense of belonging and shared experiences. Many parents find comfort in discussing their journeys with others who understand their struggles.
- Reach Out to Family and Friends: Don’t hesitate to lean on your loved ones. Sharing your experiences can foster deeper connections and provide you with additional emotional support.
Focus on Positivity: Celebrate Progress
While facing the challenges of a genetic disorder can be daunting, maintaining a positive outlook is essential.
- Celebrate Milestones: Acknowledge both small and significant achievements in your child’s development. Celebrating milestones can boost morale for both you and your child.
- Document Progress: Keeping a journal or scrapbook of your child’s achievements can serve as a reminder of their growth and resilience. This documentation can also be helpful during medical appointments to track progress over time.
- Practice Gratitude: Focus on the positives in your life and express gratitude for the moments of joy amidst the challenges. This mindset shift can improve overall well-being.
Prioritize Self-Care: You Matter Too
Caring for a child with a genetic disorder requires immense energy and emotional strength. Therefore, prioritizing self-care is essential for parents.
- Take Breaks: Schedule regular breaks to recharge. Even short moments of solitude can help clear your mind and reduce stress levels.
- Maintain Healthy Habits: Focus on nutrition, exercise, and sleep. A balanced diet, regular physical activity, and adequate rest are crucial for maintaining your health.
- Seek Professional Help if Needed: If feelings of anxiety or depression become overwhelming, consider talking to a mental health professional who specializes in caregiving or chronic illness.
Advocate for Your Child: Be Their Voice
As a parent, you play a critical role in advocating for your child’s needs within the healthcare system.
- Be Proactive in Care: Stay engaged with your child’s healthcare team. Regularly communicate any concerns or changes in your child’s condition to ensure they receive appropriate care.
- Educate Others: Help family members, teachers, and friends understand your child’s condition so they can provide better support. Providing educational resources can foster empathy and awareness.
- Explore Treatment Options: Research various treatment options available for your child’s condition. Discuss these options with healthcare providers to determine the best course of action tailored to your child’s needs.
A Mother’s Hope
Today, Leora is a vibrant three-year-old, full of life and joy despite her challenges. Her smile continues to inspire her parents to stay hopeful and strong. Hazel and her husband are committed to raising awareness about genetic disorders, hoping their story helps other parents facing similar journeys.
“Leora has taught us more than we could ever imagine. She may be only three, but she has shown us the true meaning of courage and resilience,” Hazel says with determination.
For parents navigating similar paths, remember: you are not alone. With knowledge, support, and a whole lot of love, you can face even the toughest challenges head-on.
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