Complex Spinal Surgery for a Rare Growth Disorder — Carissah’s Story

Scott and Angela Holland already had two biological daughters when they adopted 2 ½-year-old Carissah from China. They had no reason to believe that their little girl had any health concerns other than a significant bump on her lower spine. However, Carissah experienced constant respiratory illnesses, and she coughed so much that she would choke and vomit. At first Angela thought the coughing could be allergy related. Over time it became obvious something was seriously wrong.

Not only was Carissah at the pediatrician’s office repeatedly, but two years after adopting her, Angela was concerned because Carissah was still very small. Her doctor confirmed that according to the growth curve, she hadn’t grown at all. An endocrinologist checked Carissah for an endocrine or metabolism disorder, and then thought she might have a form of dwarfism. Initial testing was performed but doctors recognized that Carissah’s case was beyond their scope of expertise and referred her to the genetics team at Oklahoma Children’s Hospital OU Health.

The genetic team ran a range of tests on Carissah and delivered difficult news — the Hollands’ little girl was diagnosed with Mucopolysaccharidosis type VI (MPS VI) also known as Maroteaux-Lamy syndrome.

What is MPS VI?

MPS VI is a progressive condition that leads to the enlargement, inflammation, scarring, and eventual atrophy of many tissues and organs. Skeletal abnormalities are also common, and the progression of symptoms varies among individuals.

Individuals with MPS VI do not typically show any signs at birth. Symptoms usually begin to appear in early childhood, affecting various bodily systems, including the skeletal, cardiac, and respiratory systems.

Skeletal abnormalities in MPS VI include a large head (macrocephaly) with brain fluid buildup (hydrocephalus), coarse facial features, and a large tongue (macroglossia). Other features include having short stature, joint deformities (contractures) affecting mobility, and multiple skeletal abnormalities visible on X-rays (dysostosis multiplex). Many children develop carpal tunnel syndrome, causing numbness, tingling, and weakness in the hands and fingers. Spinal stenosis in the neck can also compress and damage the spinal cord.

Cardiac issues often involve heart valve problems, while respiratory issues may include airway narrowing, leading to frequent upper respiratory infections and sleep apnea. Accessing the airway for surgery is extremely difficult and requires a specialized care team in the operating room.

Other features of MPS VI include an enlarged liver and spleen (hepatosplenomegaly), and hernias around the bellybutton (umbilical hernia) or lower abdomen (inguinal hernia). The cornea often becomes cloudy, causing significant loss of vision. Recurrent ear infections and hearing loss are also common.

The life expectancy of individuals with MPS VI varies based on the severity of their symptoms. Without treatment, those with severe symptoms may live until late childhood or adolescence. However, individuals with milder forms of the disorder can live into adulthood, although their life expectancy may be shorter. Heart disease and airway obstruction are significant health challenges for people with MPS VI.

Genetic testing for Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome, involves a blood test to measure the activity of the arylsulfatase B (ARSB) enzyme. Low or absent ARSB activity confirms the diagnosis. This test, called an “enzyme assay,” is the gold standard for confirming MPS VI.

“Receiving the diagnosis that Carissah had a life-threatening illness was incredibly devastating,” said Angela. “However, our doctor was compassionate and explained everything in layman’s terms, helping us understand what to expect.”

Angela was warned that with the diagnosis of MPS VI Carissah would need a lot of surgeries and doctors from a variety of specialties, but Oklahoma Children’s Hospital would be with them the whole way through.

Treating MPS VI

While there is no cure for MPS VI, managing the condition involves a combination of treatments and supportive care to address the various symptoms and improve quality of life. The main treatments include:

Enzyme Replacement Therapy (ERT)

This is the primary treatment for MPS VI. It involves regular infusions of the enzyme arylsulfatase B (ARSB) to help reduce the buildup of harmful substances in the body.

Hematopoietic Stem Cell Transplantation (HSCT)

This procedure involves transplanting stem cells to help the body produce the missing enzyme. It can be beneficial, especially if done early in life.

Managing Symptoms

Various medical and surgical interventions are used to manage specific symptoms. For example:

• Skeletal Issues: Physical therapy and surgeries can help with joint deformities and mobility issues.
• Cardiac and Respiratory Problems: Regular monitoring and treatments, such as medications or surgeries, can address heart valve abnormalities and airway issues.
• Vision and Hearing: Regular check-ups and treatments for eye and ear problems are important.

Managing MPS VI requires a multidisciplinary approach involving various healthcare professionals to provide comprehensive care. Regular monitoring and assessments can help manage the condition effectively.

Surgery

As MPS VI affects the skeletal system, Carissah was experiencing foot pain and having trouble walking. Specialists regularly monitored her back, neck, and overall movement, and surgery was scheduled for a worsening hump on Carissah’s lower spine. She had been wearing a full back brace for nine years, but as she started puberty her spine worsened, and the pain was increasing.

After an MRI, Oklahoma Children’s Hospital pediatric neurosurgeon, Dr. Andrew Jea, M.D., Chair of the Department of Neurosurgery at the University of Oklahoma College of Medicine, explained that Carissah had spinal compression in her neck, and it was causing the foot pain and affecting her mobility. If she didn’t have the surgery Carissah was at risk of paralysis or permanent damage.

Due to her condition, Carissah’s bones are abnormally shaped and do not fit together properly, which affects the stability between her skull and the top of her spine. Additionally, because of dwarfism caused by the MPS, the space for Carissah’s spinal cord and nerves is very limited.

“Our surgery aimed to achieve two main goals: first, to create more space for her spinal cord and nerves, and second, to provide stability between her skull and the top of her spine,” said Dr. Jea. “We performed a decompression to give her spinal cord more room, and we put in screws and rods to provide stability between her skull and the top of her spine. A spinal cord decompression, especially in the area where the head and spine meet, is a highly specialized procedure. This area is very complex, involving not only the spinal cord but also important blood vessels.”

After neck surgery Carissah spent about five months healing in a neck brace. In the fall of 2023, she had lower spinal surgery. Five months after the lower spinal surgery Carissah had a second surgery for knock knees, a condition in which the knees tilt inward and touch.

Living a Full Life

Angela explained that while managing the condition has been a challenge for Carissah, her fighting spirit and the support from the Oklahoma Children’s Hospital medical team has made all the difference. Carissah is now able to participate in things she enjoys such as reading, church, movies, video games and attending school two days a week. Her quality of life is significantly improved, and she has a great deal to look forward to.

“Carissah has had 15 surgeries so far,” said Angela. “Despite all the sickness and surgeries, Carissah has an amazing spirit. She is always so happy, cheerful, and kind. It’s not an act — it’s truly her disposition. She is the sweetest kid you will ever meet, and she completes our family. I am so grateful for her, and she inspires me every day. We are very thankful for our team at Oklahoma Children’s Hospital who have helped us navigate this difficult path.”

While there is no cure for MPS VI, careful management of the condition can help those with the condition to have a normal life expectancy and to achieve great success. Carissah is under the care of 10 specialties, and a home health nurse visits her weekly to give her infusions to keep her as healthy as possible. Carissah began ERT infusions soon after diagnosis and has been receiving infusions for nine years — over 460 weekly infusions!

“I think that Carissah is interested in medicine, and I would absolutely welcome her to come to us when she’s a little bit older and shadow me,” said Dr. Jea. “She will have the opportunity to see things on this side of the street and hopefully it will inspire her to be a doctor one day too.”

Oklahoma Children’s Hospital has a huge team of pediatric physicians, specialists and experts who focus only on delivering the best care available to children in Oklahoma and beyond.

“In modern medicine, we don’t work in silos,” said Dr. Jea. “It’s not just one doctor or surgeon managing a patient’s entire care — it’s a team effort. To perform complex procedures and care for special patients like Carissah, you need a team around you before, during, and after surgery. At Oklahoma Children’s Hospital, we have that team. Without this collaborative approach, we wouldn’t be able to provide the level of care needed for the children of Oklahoma.”

Learn more about our pediatric neurology and neurosurgery services, request an appointment or get a second opinion, or find out more about the neurosurgical team at Oklahoma Children’s Hospital OU Health by calling (405)-271-3635.