Right now, there are only an estimated 10 people in Ireland who have been diagnosed with a form of mucopolysaccharidosis type I (MPS I) called Hurler syndrome. This is the most severe form of MPS I and is typically diagnosed between ages 6 months and 2 years. Two of the people diagnosed in Ireland are twin 16-month-old boys named Rónán and Cillian O’Keeffe.
Rónán and Cillian were diagnosed around one year old. They were developmentally delayed and struggled to crawl or stand independently. A nurse suggested that the family run tests; this was the catalyst for the eventual diagnosis.
In an article published by the Westmeath Examiner, author Olga Aughey describes how Daniel O’Keeffe, the twins’ grandfather, is working to raise funds to support Rónán and Cillian’s treatment. O’Keeffe is a musician and has leveraged some of his connections for fundraising. For example, Don Baker is donating the proceeds from his album My Songs My Friends; Johnny Logan also donated the proceeds from his January 7th show to the cause.
You may also donate directly to the fundraiser via the family’s idonate page. O’Keeffe shares that, if treatment is successful, it could significantly improve the chance of Rónán and Cillian living a longer and happier life.
What is Mucopolysaccharidosis Type I (MPS I / Hurler Syndrome)?
Mucopolysaccharidosis type I is a rare inherited metabolic disease in which people are unable to break down long chains of sugar molecules called mucopolysaccharides. There are three types of MPS I, with Hurler syndrome being the most severe form. Hurler syndrome results from genetic mutations which prevent the body from making a type of enzyme called lysosomal alpha-L-iduronidase. Normally, this enzyme helps to break down mucopolysaccharides. Instead, these long chains affect areas around the body, causing symptoms.
Symptom onset usually occurs between three to eight years of age, although it can occur earlier, especially in severe cases. Once symptoms manifest, these can (but do not always) include:
- Enlarged tonsils and/or adenoids
- Corneal clouding
- Slowed growth
- Developmental delays
- Short, broad hands with curved fingers
- Enlarged organs
- Abnormal spinal curvature
- Joint stiffness and disease
- Progressive intellectual disability
- Difficulty breathing
Treatment options for Hurler syndrome include symptomatic and supportive treatments, hematopoietic stem cell transplants, and intravenously administered Aldurazyme.