This Child Has a Condition So Rare, There Are Only Five Known Cases

By: Sam Watanuki | Published: Apr 09, 2024

When Rachael Duff first saw her daughter, Faith, she knew she was special. Faith was born prematurely in April 2018 at 30 weeks and six days in Ballyclare, Northern Ireland, and it was just the beginning of a journey unlike any other.

Describing that moment, Rachael recalls, “It was instant love.” Faith’s unique challenges started to unfold early on, hinting at a rare path ahead. With only four other known cases worldwide, Faith’s condition places her in an extraordinarily rare category, making every step of her journey a discovery.

The Diagnosis Journey

Faith’s medical challenges were apparent from the start. After being rushed to the neonatal unit for breathing assistance, facing a heart complication, and experiencing delays in her milestones, the puzzle of her condition began to form, according to The Sun.

Faith Duff smiling

Source: Rachel Duff via The Sun

Initially suspected of having cerebral palsy, further investigations led to an unexpected revelation. The actual diagnosis was a pathogenic variant of the ELOVL1 gene, a finding that left her family with more questions than answers.

Unraveling the Mystery

July 2022 marked a pivotal moment for Faith and her family. The identification of the ELOVL1 gene variant provided a name to Faith’s condition but did little to clear the fog of uncertainty surrounding her future.

Faith Duff smiling while laying in hospital bed

Source: Rachel Duff via The Sun

Rachael’s quest for understanding led her to specialists who responded, “We don’t know,” to her most pressing questions. This lack of information highlighted the isolation felt by families dealing with rare genetic conditions.

Living with the Unknown

For Rachael and Michael, every day is filled with unknowns. The progression of Faith’s condition, its impact on her lifespan, and the genetic roots remain unanswered mysteries.

Faith Duff smiling in wheelchair

Source: Rachel Duff via The Sun

This uncertainty is a constant companion for the Duff family, as they navigate the complexities of a condition so rare that even the medical community is largely in the dark about it.

A Life of Adaptation

Using a wheelchair for mobility and recently undergoing surgery to correct her foot positioning, Faith embodies a spirit of perseverance.

An exterior shot of a children’s hospital in Colorado seen underneath a dark blue sky.

Source: Acton Crawford/Unsplash

Her condition, including stage 3 kidney disease and a neurogenic bladder, demands constant vigilance and care, showcasing the daily challenges and triumphs of living with a rare condition.

The Challenge of Rare Diseases

Faith’s story brings to light the immense challenge of diagnosing and managing rare diseases. With only five known cases globally, her condition underscores the vast unknowns in the medical field regarding rare genetic disorders.

Scientists analyzing a sample with a microscope

Source: Freepik

Each appointment, each test, adds a piece to the puzzle, slowly building a picture of what life with a rare condition entails.


School Days and Milestones

Despite the hurdles, Faith shines brightly in her special school. Her mother describes her as academically bright and a chatterbox who “could sell snow to the Eskimos,” but Faith’s personality and intelligence transcend her physical limitations (via The Sun).

A group of kids sitting down on the floor in front of a teacher and other children.

Source: CDC/Unsplash

Her progress in reading and counting, coupled with her insatiable curiosity, highlights the joy and potential thriving within her.


A Family's Unwavering Support

The Duff family’s journey is a story of unwavering support and love. Their proactive approach, from setting up a GoFundMe fundraising page to secure Faith’s future needs to daily care routines, showcases their commitment to providing Faith with the best possible life.

An image of a female scientist pictured holding up a small vile of blood in her lab

Source: Freepik

Rachael’s strength, mirrored by Faith’s resilience, forms the backbone of their family’s journey through uncharted waters.


Community and Hope

In the absence of a wider support network for their rare condition, the Duffs have turned their story into a beacon of hope for others.

Scientist from Blackrock Neurotech examining a sample under a microscope

Source: @BlackrockNeurotech/Facebook

Rachael’s efforts to share their experiences aim to connect with families in similar situations, fostering a sense of community and mutual support amidst the challenges of rare genetic disorders.


Research and Rare Genetic Conditions

Faith’s case shows the critical need for continued research into rare genetic conditions. With advancements in genetic testing and personalized medicine, there’s hope for better understanding, treatment, and, perhaps one day, a cure for conditions as rare as Faith’s.

Scientist wearing blue latex gloves using a microscope

Source: Chokniti Khongchum/Pexels

This hope fuels the Duff family’s advocacy for more research and awareness.


The Importance of Awareness

Raising awareness about rare diseases is vital not just for funding and research but also for building support networks for families navigating these complex conditions.

Doctor speaks to a patient in an exam room

Source: Freepik

Stories like Faith’s play an essential role in highlighting the challenges, triumphs, and everyday realities of living with a rare condition, encouraging a more informed and empathetic society.


Looking to the Future

The Duff family faces the future with hope and determination. With each day, they celebrate Faith’s achievements, cherish her infectious smile, and face the uncertainties with courage.

Scientists in white lab coats working together in a laboratory

Source: Urcomunicacion/Wikimedia Commons

Their story is a powerful reminder of the strength found in love, the importance of hope, and the endless possibilities that lie ahead, even in the face of the unknown.