Revolutionary Therapy Provides Hope to Rare Disease Patients like Wesley

For much of Wesley’s first year of life, his parents, Katarina and Brian, recall that everything was on track with him developmentally. He had the healthiest of appetites, was growing, gaining weight and meeting milestones. The first-time parents showered him with love and laughter, and their family began making memories.

At his 15-month checkup, Wesley’s pediatrician recommended following up with Orthopedic and Genetic specialists given that Wesley had not started to walk yet.

“We thought we had a healthy baby that passed newborn screening and who had met his milestones until walking. We just assumed Wesley was a late walker,” Katarina said. “Ortho observed Wesley and immediately consulted with genetics because he had characteristics of other children who had Hunter Syndrome, a disease we had never heard of before.”

At 19 months old, that suspicion was confirmed, and Wesley was officially diagnosed with Hunter Syndrome. Hunter Syndrome, also known as Mucopolysaccharidosis type II (MPS II), is a rare, genetic disorder in which an individual’s body does not properly break down sugar molecules. Individuals with Hunter Syndrome lack an lysosomal enzyme. This rare disease affects many organ systems including the skeleton, heart, and respiratory system. The progressive condition also affects life expectancy.

“Going from thinking that your child is getting the run-of-the-mill childhood, frequent runny noses to finding out they have a terminal diagnosis is devastating,” said Katarina. “It’s been a roller coaster of emotions.”

Searching for Hope

Immediately, Katarina and her husband, who lived in Florida at the time, began to research as much as they could about Hunter Syndrome. While their world was turned upside down with Wesley’s diagnosis, they knew they could not give up hope.

“I did an incredible amount of research, calling and emailing hospitals, and reaching out to rare disease communities which included the National MPS Society.  That connection I made with the National MPS Society changed the trajectory of Wesley’s care,” said Katarina. The connection led Katarina to Barbara Burton, MD, Medical Director of the Mucopolysaccharidoses (MPS) and Mucolipidoses (ML) Treatment Program at Lurie Children’s.

Dr. Burton has dedicated her career as a physician and scientist to studying inherited metabolic disorders and new therapies for rare disorders such as MPS II. She is a leading expert on disorders diagnosed through newborn screening (phenylketonuria and others) as well as in lysosomal storage disorders.

“Almost instantly after I emailed Dr. Burton Wesley’s lab work and other clinical information, along with a photo, she responded. She shared what treatment options were available and ultimately, we decided to pursue one of just two clinical trials available for MPS II,” said Katarina. “Within a month of diagnosis, we both quit our jobs and moved to Chicago to start Wesley's treatment.”

Pursuing the Best Treatment Options

Although the decision to uproot their family from Florida to Chicago came with uncertainties and fears, Katarina and Brian knew it was the best chance to give Wesley the quality of life he deserved.

Research at Lurie Children’s is conducted through Stanley Manne Children’s Research Institute, which is focused on improving child health, transforming pediatric medicine and ensuring healthier futures through the relentless pursuit of knowledge.

Wesley was enrolled in a clinical trial for pediatric patients with Hunter Syndrome (MPS II) that is designed to evaluate the efficacy of a new blood brain barrier-penetrant enzyme in treating the progressive cognitive decline and neurodegeneration that 2/3 of patients with Hunter Syndrome experience. Current treatments available for Hunter Syndrome address many of the physical symptoms of the disease but do not get to the brain to prevent or halt cognitive decline.

“This is revolutionary therapy that holds promise to give these kids a normal life,” said Barbara Burton, MD. “Patients with rare diseases are as deserving of treatment as are those with common diseases. It is critically important that efficacious therapies be developed for the thousands of patients suffering from rare disorders and the only way this can happen is through clinical trials. Patients who choose to participate may not only experience benefit themselves but pave the way for successful treatment of future generations of children with the same disorder. We are incredibly grateful to those patients and families who are willing to do something that is often very time consuming and may lead them to have to relocate in order to participate- like Wesley's family who came to us from Florida.”

Each week, Wesley visits the Clinical Research Unit at Lurie Children’s to receive an infusion through his participation in the clinical trial. With each visit, Wesley brings a brightness and energy with him that is infectious. His mom shared, “Wesley is the sweetest boy who loves to share with everyone around him and make them laugh and feel loved. He truly makes a room brighter when he walks in. His favorite things to do are read books and dance. We love and trust Dr. Burton. Wesley’s nurses have become like family. We see them once a week for around eight hours. They all play with him after infusion and always smile and laugh with him. His nurse that is with us almost every week goes above and beyond for him. She thinks of new ideas that will make him feel more comfortable and she reads and dances when Wesley asks her to. We love Rachel so much.”

And while his family understands there is no cure for Hunter Syndrome, they remain hopeful that this study will help his body and brain slow down any damage or decline.

“Dr. Burton and our care team have provided a level of comfort in an otherwise impossible situation. We've always felt like we had someone we could turn to for the countless questions that come to mind. The love that is shown to Wesley from the care team lets us know that we have someone in our corner who is focused on ensuring that Wesley has the best possible experience,” Katarina said. “We are hopeful that participating in this study not only benefits Wesley but the many families that get the same diagnosis that come after us.” 

Lurie Children's is also the first in Illinois to receive designation as a NORD Rare Disease Center of Excellence, becoming one of 40 U.S. academic medical centers selected to be a part of the first-of-its-kind national network of U.S. medical institutions dedicated to diagnosing, treating, and researching all rare diseases. The network is led by the National Organization for Rare Disorders (NORD) and is designed to foster knowledge sharing between rare disease experts across the country to help meet the unmet needs of more than 25 million Americans living with a rare disease.