ERT Improves Young Son Quality Of Life After Rare Condition Diagnosis
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by
Ree Webster
In a tale familiar to many families, Lucy McCran and her son Jakob, endured an almost decade long ordeal trying to find a reason behind the young boy’s unique health problems, before doctors were finally able to diagnose the cause and prescribe an effective treatment.
The mother from Dennington, in Suffolk, England, knew something was wrong with Jakob immediately after birth, even the midwife noticed issues and warned of potential health problems. As the years went on, the visible signs of development issues became apparent, however, regular visits to the doctors repeatedly uncovered nothing.
“We knew something was different with Jakob when he was born and as the years progressed on it became more apparent,” Lucy explained.
Then, after Jakob turned 8, doctors could diagnose the cause: an extremely rare disease known as Mucopolysaccharidosis type VII (MPS VII). The condition reported to affect as few as one babies every 10 years in the UK and similar in the USA, is caused by a lack of the enzyme beta-glucuronidase, which leads to symptoms such as delayed bone growth, impaired joint mobility, and decreased mental cognition. Lucy explained:
“It’s a progressive and life-limiting condition, but he handles it extremely well,”
“It mostly affects him with his mobility due to a lot of pain and stiffness, but he also suffers from development delay and cognitive impairment.
“It’s only mild, but he is delayed by a few years”
Fortunately, Jakob’s symptoms of pain, stiffness, and cognitive impairment remained mild, even after 8 years of going undiagnosed. Thanks to the perseverance of both the family and the medical staff, doctors were able to find the cause of the boy’s health problems and provide treatment, all but guaranteeing a better quality of life following subsequent treatment administered in the form of enzyme replacement therapy ERT.
To manage symptoms, Jakob now undergoes enzyme replacement therapy (ERT) once every two weeks with four-hour sessions carried out at his local hospital.
Now, the mother from Dennington, in Suffolk, England, has been keen to share the family experience of living with this life-limiting condition, and in talking to the BBC, amongst others, and by sharing their progress on social media, she hopes to raise awareness so that others may benefit from additional information provided by those going through similar hardships.
What Is Mucopolysaccharidosis type VII (MPS VII)
Mucopolysaccharidosis type VII (MPS VII) is a very rare disease that affects, on average, just one baby every 10 years, or approximately—1 in 250,000 newborns. Also known as Sly syndrome, MPS VII) is a rare genetic disorder caused by a deficiency of the enzyme β-glucuronidase. This enzyme breaks down complex carbohydrates called glycosaminoglycans (GAGs) in the body. Without enough β-glucuronidase, GAGs accumulate in various tissues, leading to progressive damage.
Symptoms can vary but typically include skeletal abnormalities, growth delays, joint stiffness, organ enlargement, and vision problems. MPS VII can range from mild to severe, with early diagnosis and enzyme replacement therapy improving quality of life and helping manage the condition, though no cure exists.
How to Diagnose Mucopolysaccharidosis type VII (MPS VII)
Diagnosing Mucopolysaccharidosis type VII (MPS VII) typically involves a combination of a clinical assessment, specific laboratory tests, and genetic analysis. Physicians may start by evaluating symptoms caused by conditions such as skeletal abnormalities, organ enlargement, and developmental delays. Urine tests can also be utilized to reveal elevated levels of glycosaminoglycans (GAGs), which are indicative of MPS disorders.
To confirm the presence of MPS VII, enzyme assay tests can be performed to detect the low activity of the β-glucuronidase enzyme in the blood or skin cells. Additionally, genetic testing may be used to identify mutations in the GUSB gene, which is the actual cause behind MPS VII.
Regardless of how MPS VII is detected, the early diagnosis of this condition is vital for managing symptoms and exploring available treatment options.
What is ERT
The very first concept for enzyme replacement therapy (ERT) was initially proposed by Christian de Duve and Roscoe Brady all the way back in 1964. However, the treatment didn’t receive FDA approval until 1991, when it was made available to treat Gaucher disease. Since then, the treatment has been shown to be effective in treating other conditions such as Fabry disease, MPS I, MPS II (Hunter syndrome), MPS VI, and Pompe disease.
Enzyme replacement therapy (ERT) is a medical treatment designed to replace missing or deficient enzymes in individuals with specific genetic disorders, such as certain types of mucopolysaccharidosis (MPS) or Gaucher disease. In ERT, a synthetic or recombinant form of the deficient enzyme is administered, often through intravenous infusion, to help restore normal metabolic processes. This therapy aids in breaking down harmful substances that would otherwise accumulate in tissues, causing damage. While ERT is not a cure, it can significantly reduce symptoms, improve organ function, and enhance quality of life. Regular ERT sessions are typically required for sustained benefits.
The Importance Of Early Diagnosis For Rare Disease
A rare disease is a condition affecting less than 1 in 200,000 people. However, with over 7000 documented rare diseases, almost 1 in 12 babies are born with a rare condition, and this means around half the children in the USA have a rare disease.
These uncommon conditions are often difficult to diagnose and notoriously tricky to treat. Due to the low prevalence of occurrence, the opportunity to research and study rare conditions is also scarce.
Like many families with children who’re affected by a rare disease, diagnosis of the condition didn’t come easy. And even once a diagnosis was finally reached, finding experts with the specific knowledge required to treat such a condition was also challenging.
One thing the family did realize, and a factor that applies to almost all individuals affected with a rare condition, is the importance of early diagnosis. Since little is known about most rare diseases, early diagnosis is critical as doctors will need as much time as possible to identify the problems at hand.
Early diagnosis of rare diseases is crucial for effective treatment and better quality of life. Identifying a rare disease, like Mucopolysaccharidosis type VII, early on allows for timely intervention, slowing disease progression, reducing complications, and improving patient outcomes. In some cases, early treatment may even prevent irreversible damage.
Additionally, early diagnosis enables families to access specialized care, genetic counseling, and support resources tailored to their needs. It also empowers patients and families to make informed decisions and participate in clinical trials, which may offer novel therapies. Ultimately, early detection significantly improves long-term prognosis and quality of life.
With all that in mind, Lucy knew she had to share her and her boy’s experience:
“I know that when we became aware of Jakob’s condition there was no-one out there in a similar situation that we could turn to,”
“If another child can get diagnosed earlier and start treatment a lot earlier, that would be fantastic.”
In Conclusion
In conclusion, Lucy and Jakob’s journey underscores the profound impact that early diagnosis and access to innovative treatments like enzyme replacement therapy (ERT) can have on families affected by rare diseases. After years of searching for and searching for the correct diagnosis and treatment, Jakob’s life was transformed, and his mobility and cognitive support improved.
Lucy’s decision to share their story is an invaluable resource for others navigating similar challenges, offering hope and raising awareness of the importance of timely medical intervention for rare conditions. By spreading knowledge about MPS VII and ERT, Lucy and Jakob inspire others to advocate for early diagnosis, which can make a difference for children and families facing rare diseases. Their story highlights the power of medical advancements and the strength of family support and perseverance in overcoming life’s challenges.
