top of page

Understanding Rare Disease Families' Burdens 

IMG_8714.PNG
3365fb56ad023ed9eb1afb56a4cccdc3.png
Rare diseases represent one of the most overlooked yet significant health challenges of our time. Worldwide, approximately 300 million people live with rare diseases, representing 3.5-5.9% of the global population. Such individuals are often a neglected and marginalised group, especially those in low-income and middle-income countries. Around 80% of rare diseases have a genetic cause, almost 70% of which present in childhood; about 95% lack approved treatments; the average time for an accurate diagnosis is 4·8 years; and about 30% of children with a rare disease die before age 5 years.

In China, an estimated 20 million individuals are affected by rare diseases, with 207 diseases officially listed as rare diseases by the government. The challenges facing Chinese families are particularly acute: the average diagnosis time for patients is as long as 4.81 years, and more than two-thirds of patients have experienced misdiagnosis, with significant healthcare disparities between urban and rural areas creating additional barriers to accurate diagnosis.

The situation becomes even more dire in China's remote mountainous regions, where limited medical resources compound these challenges. In these underserved areas, 58.15% of rare disease patients experience misdiagnosis, with 35.20% enduring the trauma of being misdiagnosed more than 5 times. Many patients face a lengthy journey before receiving an accurate diagnosis—if they ever receive one at all.

How We Act:
3 Phrases That Reignited Hopes

IMG_0611.JPG
Phase 1: Expert Consultation & Screening 

Multi-Disciplinary Expert Consultation
Professor Yiping Shen's expert team collaborates with local maternal and child health hospital physicians to provide comprehensive care.

​

Our process includes:

  • Professor Yiping Shen 's expert team collaborates with local maternal and child health hospital physicians

  • Comprehensive medical history review including family history and developmental milestones

  • Thorough physical examination to assess specific symptoms

  • Detailed completion of diagnostic record forms

​

Scientific Selection Criteria

Our charitable initiative prioritizes two types of children:​

  1. Intellectual disabilities, developmental delays, abnormal muscle tone (such as suspected cerebral palsy)

  2. Children with unclear diagnoses from grassroots hospitals who remain undiagnosed despite extensive medical consultations

​

Informed Family Consent

  1. Experts provide detailed explanations of genetic testing significance and procedures

  2. Parents sign informed consent forms

  3. Completely free of charge, funded by social entrepreneurs & charitable foundations (3,000-9,000 yuan per family)

Phase Two:
Sample Collection & Laboratory Analysis
 

Professional Sample Collection

  • Trio whole exome sequencing: Blood samples collected from child and both parents

  • Strict adherence to international standards for sample preservation and cold-chain transportation

  • All samples directly transported to testing institution accredited with relevant official certifications


Laboratory Analysis

  • Whole exome sequencing technology: Testing approximately 20,000 genes

  • Rigorous quality control: Ensuring accuracy and reliability of test results

  • Comprehensive bioinformatics analysis: Identifying pathogenic gene mutations from massive datasets

​

Expert Team Interpretation

  • Internationally renowned genetics experts analyze every report

  • Comprehensive assessment combining clinical symptoms

  • Every result undergoes strict scientific validation

IMG_0610.JPG
IMG_0609.JPG
Phase Three:
Results Interpretation & Follow-up Guidance
 

One-on-One Report Interpretation

  • Face-to-face consultation between experts and parents with detailed genetic testing result explanations

  • Maternal and child health hospital physicians observe throughout to ensure service continuity

  • Clear explanation of the child's genetic status and corresponding medical implications

​

Personalized Treatment Recommendations

  • For treatable conditions: Detailed information about therapeutic medications and access pathways

  • For conditions without specific treatments: Recommendations for rehabilitation training, life care, and educational support

  • Targeted guidance: Specific intervention measures to improve the child's quality of life

​

Genetic Counseling Services

  • Alleviating reproductive fears: Introducing advanced screening technologies like NIPT to families hesitant about having a second child

  • Scientific reproductive guidance: Helping families make informed reproductive decisions

  • Knowledge empowerment: Replacing unnecessary worries with scientific knowledge

When Hope Glows

IMG_8767.PNG

And Miracles Happened...

Three Months That Changed Lives

  • In just three months, a quiet miracle unfolded within the mountains—powered by compassion and collaboration.

  • With the unwavering support of local Maternal and Child Health Hospital, we reached out to families at the local Special Education School.

  • Among the 199 families, 27 stepped forward with hope—and together, we completed whole-exome sequencing for 16 children and their parents, all at no cost to them.


A Gift of Hope, Fully Funded

  • Thanks to generous charitable funding, every test—each costing 3,000 yuan (over 100,000 yuan in total)—was covered.

  • No family had to worry about expenses; every step was gifted with kindness.

  • Discoveries That Brought Answers—And Triumphs in Tears

  • 7 children received clear, life-changing diagnoses—answers their families had waited years for.

  • The diagnostic rate achieved was not just a number, but a testament to what care and precision could achieve.


Xiao Rui’s Story: When a Name Finally Fits

  • For years, Xiao Rui was told she had cerebral palsy.

  • Her family had spent nearly 800,000 yuan searching for answers, only to hit dead ends—until now.

  • This project gave her the truth: TUBB4A-related dystonia—a diagnosis that finally made sense.

  • For the first time, her family heard there was real hope: Deep brain stimulation (DBS) surgery could give her a chance to speak, walk, and reclaim her life.

​

More Than Data— Futures Reignited

  • Behind every test was a child who could now dream bigger.

  • Behind every report was a parent who finally exhaled in relief.

  • Science did its part—but love, support and cooperation made it possible.

Story of the Little Rui

'We'll Grow into a chorus of hands'

This isn't the close of a chapter; it's the first verse of a song that, with every hand that joins in—yours, mine, and the world's—will grow into a chorus, lighting the path for every rare disease family still waiting in the quiet corners.

For love, like the mountains that cradle these stories, is boundless, and together, we’ll keep climbing toward a day when no child’s future is dimmed by the unknown.

bottom of page