Diagnosis: Norrie Disease
KTG recently had the pleasure of meeting Kelly Leggett, Co-Founder of The Norrie Disease
Foundation in the UK. Kelly graciously shared her family’s extraordinary journey, which
ultimately led to the establishment of this nonprofit organization. Norrie Disease, a condition
commonly first associated with a glow-like appearance in the eyes, often leads to blindness as
well as hearing loss and other developmental conditions. The Norrie Disease Foundation aims
to raise funds for research and their present goal is to work toward alleviating the severity of
auditory deficits often experienced by individuals with this condition.
Two years after the birth of their eldest child, Harrison, Kelly and her husband Tom welcomed
their second son, Alfie, into the world. As experienced parents, they knew what to expect when
it came to newborns’ eye appearance. Beginning at a week after birth, Alfie exhibited some
unusual signs in his eyes where they seemed dilated and occasionally there would be a visible
distinct white glow.
During a routine one week checkup with their midwife, Tom and Kelly expressed their concerns
about Alfie’s eye issues. This led to a referral to a local general practitioner. Pediatric cataracts
were suspected, prompting Alfie’s subsequent referral to Great Ormond Street Hospital
(GOSH).
To their shock, Kelly and Tom received the devastating news that Alfie was blind and were also
informed about his probable diagnosis of pediatric glaucoma and Norrie Disease. They were
heartbroken to learn that this rare disease not only often causes complete blindness but also
often leads to additional complications in hearing, motor abilities, cognition, and learning
differences.
Filled with questions, Kelly and Tom returned to GOSH, where the diagnosis of Norrie Disease
was confirmed. They not only sought medical advice from the remarkable doctors but also
sought out a community of individuals who could relate to their situation, considering the rarity of
the condition.
Dr. Henderson and Dr. Chien Wong provided immense support to the family. The doctors
valiantly battled the disease, performing surgeries to remove scar tissue from Alfie’s eyes in
hopes of preserving a small amount of light perception. A subsequent surgery followed in
Michigan a year later, aiming to flatten the retina and potentially restore some vision.
Unfortunately, neither surgery managed to halt the vision loss. Nevertheless, Kelly and Tom
took comfort in knowing that they had exhausted every option to save their son’s sight.
Surprisingly, genetic testing revealed that Kelly, contrary to expectations, did not carry the rare
X-linked disease. Typically, Norrie Disease stems from the mother unknowingly carrying the
gene. In Alfie’s case, his Norrie Disease appeared sporadically and has no known genetic link.
Aware of the association between Norrie’s Disease and autism as well as hearing loss, Kelly
and Tom diligently monitored Alfie’s well-being. It didn’t take long for the autism symptoms to be
confirmed, and on his sixth birthday, a routine hearing test indicated that his hearing was
beginning to be affected. Although Alfie faces challenges due to sensory sensitivity and finds
wearing hearing aids particularly difficult, his hearing loss remains mild in one ear and moderate
in the other. Presently, eight years old, Alfie attends a special school that offers individualized
attention and comprehensive therapeutic support. The school environment has proven to be
ideal for this courageous boy, as the therapy team has even recognized his exceptional posture
during horse therapy sessions.
Aside from the support received from doctors and geneticists, Kelly and Tom were fortunate to
connect early on with Wendy Horrobin, the current Chair of The Norrie Disease Foundation .
Wendy and Kelly first met shortly after Alfie’s diagnosis when he was only a few weeks old,
while Wendy’s son Josh was already eight years old. Having someone to turn to for non-medical
questions and concerns proved to be a great comfort, fostering a special bond and friendship
between Wendy and Kelly. Wendy also introduced Kelly to a small Facebook group, which
initially comprised just 30 members but has since grown to over 300.
Wendy and her son Josh, now 15, have been an unwavering source of support, along with
another family whose child is close in age to Josh and coincidentally lives just a few miles away
from Kelly and Tom. Wendy, Kelly, and Theresa all recognized the importance of establishing a
charity dedicated to raising funds for research and fostering a sense of community among
Norrie’s families in the region.
Wendy had a connection with an outstanding professor at GOSH, Dr. Maria Bitner-Glindzicz,
who eagerly joined forces with a research team to study the auditory sensory deficits commonly
observed in Norrie Disease patients. Their aim was to understand the onset of these deficits,
with the ultimate goal of identifying therapeutic interventions. Tragically, Dr. Bitner-Glindzicz
passed away in 2018. However, her colleagues, aware of her passion for the project, rallied
together to carry on her work and continue the pursuit of answers through research. GOSH and
the UK have made the minimization or elimination of hearing loss for these patients a top
priority, evident by Norrie Disease UK’s inclusion as a Partner on the 2023-2024 National
Funding Call.
The incredible team assembled shares the dream of a brighter future for children with Norrie
Disease. The prospect of identifying a therapeutic intervention window has never been closer to
reality. This deeply resonates with KTG, as we also strive to eradicate unnecessary suffering
caused by glow-related conditions. We wholeheartedly support and celebrate their endeavors,
eagerly anticipating further updates on their achievements. Likewise, we extend our heartfelt
encouragement to Alfie and his remarkable family as they face the future with hope and endless
possibilities.
