Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

Raring to Go: A Mother’s Journey to Raise 4H Leukodystrophy POLR3B Awareness and Change Her Son’s Life

Ten pregnancies. Eight births (one born sleeping). Seven beautiful children.

When Kerrie and Tony Sutton look around at their family—Lewis (28), Jake (27), Megan (24), Star (11), Rio (9), Sunni (8), and Dude (5)—they are filled with the kind of joy that radiates from the love of a close-knit family. Joy that comes from the simple moments of togetherness, laughter, and love that permeate their daily lives.

It is this love that drives Kerrie and Tony to make a difference for their youngest son, Dude. To be passionate advocates in the face of a challenging diagnosis: 4H leukodystrophy caused by POLR3B gene mutations.

Rare diseases often exist in the shadows, the stories hidden from the spotlight of public awareness. But Kerrie and Tony refuse to let this happen. They push forwards towards understanding, research, and care for their son.

Through the eyes of Kerrie, we get a glimpse into their world—a world defined by the daily complexities of an illness that few people understand. But we also watch as Dude and his family navigate this uncertain landscape with unwavering courage. Theirs is a story of love, strength, and the relentless pursuit for awareness in the face of adversity.

Dude’s Story

After a relatively normal pregnancy, Dude appeared to be a healthy, happy, and bubbly baby. Yet Kerrie felt something was off. She shares:

“After so many pregnancies and babies, I kind of had the upper hand in knowing the ‘normal’ range of childhood development. Dude’s development was not necessarily in that range. He always wobbled when he first began to walk. He had a wide gait and lost his balance a lot, tripping and falling over nothing. I also noticed that one eye turned inwards and his pupils were always huge.”

While Kerrie and Tony wanted to pursue care, there was a roadblock in their plans: the COVID-19 pandemic. However, after a while, the signs were too great to ignore. The family’s general practitioner felt the same way.

In January 2022, the family was booked into a hospital. Dude was set to undergo an MRI and a series of blood tests. His blood tests came back fairly normal; while some areas were elevated, the doctors did not feel too concerned. The MRI, on the other hand, showed a different picture. Says Kerrie:

“When the results came back the next day, the doctor approached us. He told us that there was no easy way to say it, but Dude did not have enough myelin (white matter) in his brain. Because of this, messages from his brain to the rest of his body would be slower and sometimes broken. Initially, I thought, ‘That’s okay. We’ll wait for it to grow back and he will be okay.’ But I know now that this isn’t the case.”

In an effort to understand why Dude’s brain lacked white matter, doctors suggested genetic testing.

“That’s when the biggest blow came…”

On the morning of April 26, 2022, the family learned that the results were ready and immediately knew that something was wrong based on the look on the physician’s face. Kerrie explains:

“We were told that Dude had 4H leukodystrophy POLR3B. I asked what we needed to do to treat him and was told that sadly, there are no treatments and there is no cure. He apologized for knowing nothing about it or having no other resources to provide us with because 4H leukodystrophy is so rare. All he knew was that Dude would lose the ability to walk and talk, but he couldn’t provide any sort of timescale. That’s when the biggest blow came: the horror, the shock, the pain, all rolled into one. My heart shattered and sank to the bottom of my chest.”

The physician wrote the name of the disease, as well as the website for the YAYA Foundation, on a slip of paper. Kerrie and Tony left the office in shock. Feelings flooded through them: outrage, anger, sadness, confusion. Where should they go? Who should they speak to? What should they do? Says Kerrie:

“What an absolutely dire situation to be in. I began doing research online but seeing the outcome was mortifying. I cried for weeks. When I look back, I think that there should absolutely be more mental health support at the time of diagnosis. We have been through so many feelings and having to process that your child has an illness with no treatment and no knowledge is immensely difficult.”

What is 4H Leukodystrophy?

Also known as: POLR3-related leukodystrophy; 4H syndrome

Kerrie describes 4H leukodystrophy as:

“A degenerative disease caused by a broken gene in both parents. The lack of myelin reduces the fluidity of messages getting from the brain to the rest of the body and worsens over time. It is the most vile disease that will steal my son from me bit by bit.”

4H leukodystrophy, a rare genetic disorder affecting the nervous system, is caused by POL3RA, POL3RB, or POLR1C gene mutations. Its moniker “4H” refers to hypomyelination (the body cannot produce enough myelin) with hypogonadotropic hypogonadism (a condition resulting in delayed puberty) and hypodontia (having fewer teeth than normal and/or abnormal tooth development).

Symptoms of 4H leukodystrophy often appear in early infancy or during the toddler years. Outside of the above signs, people with 4H leukodystrophy may show signs of:

• Balance and coordination issues, including clumsiness, an abnormal gait, and frequent falling
• Muscle and joint stiffness
• Problems with fine motor skills and muscle coordination
• Vision problems
• Tremors or difficulty controlling arm/leg movement
• Difficult-to-understand speech
• Mild-to-severe learning disabilities
• Small size/stature

You can learn more about 4H leukodystrophy, as well as find support and resources, through organizations such as the YAYA Foundation and Alex, the Leukodystrophy Charity (a Patient Worthy partner). Says Kerrie:

“These two organizations have been amazing. The YAYA Foundation has given me so much information, led us to specialists, and connected us with families for support. Families are the pinnacle of knowledge; they know more than anyone else given their first-hand experience. Of course, with great knowledge comes great sadness as many of them have lost their children already. Alex TLC has also helped and guided us when we have felt lost. They are always available to chat and have played a crucial role on our journey.”

Pushing Forward for Change

As Kerrie dove deeper and deeper into research, she only became more committed to finding a way to transform her son’s life for the better. She discovered Dr. Nicole Wolf of the Amsterdam Leukodystrophy Center and the Amsterdam University Medical Center. Dr. Wolf is one of the world’s leading clinician scientists of 4H leukodystrophy. Kerrie and Tony immediately decided to book a consultation to learn more about what Dude was dealing with. The community rallied behind the family, paying for the trip and the appointment.

Dr. Wolf was gentle, kind, and soft-spoken—but also precise and to the point. After carefully looking at Dude’s MRI and genetic results, Dr. Wolf provided the family with more information on Dude’s mobility and what to expect in the future. Kerrie shares:

“Some say knowledge is key. That day, knowledge felt like the end of the world for us. But we are still incredibly thankful for, and grateful to, Dr. Wolf for being part of this journey with us. Even though the future is still somewhat scary, we are doing everything we can for Dude. In fact, we’re traveling back to Amsterdam this April to check in with Dr. Wolf. I plan to ask more questions this time, having done intense research on my own.”

In addition to seeing Dr. Wolf, the family has participated in a research study through CHOP after meeting researchers at a 4H conference. Dude, as well as Kerrie, Tony, Star, Rio, and Sunni, provided blood samples to the research program. Kerrie explains:

“They are looking into finding biomarkers and common blood factors in siblings and non-siblings both with and without the disease. We hope that by providing these samples, this enables researchers to learn more about 4H leukodystrophy and contributes to early diagnosis and treatment development. We pray that a trial becomes available for Dude before he progresses too far into the disease. It’s hard, but I truly believe that anything is possible.”

To advance 4H leukodystrophy understanding, Tony and Kerrie continue to act as advocates for Dude. They run TikTok, YouTube, Instagram, and Facebook accounts to share his story; are planning to appear on ITV and BBC to share their story; hold raffles, auctions, and other fundraisers; publish articles in local and national newspapers, and attend conferences and community weekends to gain knowledge. Currently, the family is fundraising to take Dude on a trip to Disneyland, as well as to support them through medical appointments, specialist visits, and traveling. If you would like to contribute, you may donate here.

Dude Today

In the two years since diagnosis, Dude’s condition has advanced. He has become more wobbly and his hand tremors cause issues with fine motor skills like writing. When he feels tired, he uses a wheelchair as a mobility aid. But when he isn’t using a wheelchair, Kerrie explains that one of the challenges of 4H leukodystrophy is that he looks “fine” on the surface. She shares:

“One of the myths of raising a child with a rare condition like 4H leukodystrophy POL3RB is that if he looks okay, he must be doing fine. Doctors seem to think that as long as he looks okay, we don’t have to do anything else. But I want to implement other ways to manage his condition so he doesn’t deteriorate quicker. At home, we keep him as active as possible to strengthen his muscles. We want him to practice and remember and embed those movements because if you don’t use it, you’ll lose it. I’m frustrated that professionals don’t listen to parents when I’m telling you that, from my lived experience, this is what we need to do. Watching other children deteriorate and knowing that my son is heading the same way breaks me daily. The lack of knowledge from professionals, and the lack of trust on their end towards parents, makes this journey that much more difficult.”

Despite the hardships that he has faced thus far, Dude remains a positive, upbeat, and empathetic child. He loves cars—ask him the make and model of any car you see and he’s sure to have a response—and playing pranks. Says Kerrie:

“He’s the funniest kid you will ever meet. His giggle is contagious. His jokes are terrible and make no sense, but he thinks he is hilarious, which makes you laugh even more. He makes us laugh every day. His kindness and thoughtfulness are incredible for such a young child and his empathy for others is unmatched. When it comes to resilience, he’s never a quitter. He will have an answer to any question followed by ten more questions for you. His mind solves problems in ways I don’t even think about. He knows that he’s a bit different and is too young to completely understand, but the boy smiles through it all. Everyone loves him and he makes us so proud.”

If your child has 4H leukodystrophy—whether newly diagnosed or living with it for some time—just know that you are not alone. Kerrie reminds parents to breathe, take everything one day at a time, and make memories and be happy with your children. At the end of the day, surrounding them with love and advocating for a better future is the best thing you can do. And if you’re in the UK and need more help, says Kerrie:

“Meet me for a coffee; let me hug you.”