Daily Challenges

Learn More About MPS VIIMy name is Helen. I am from the Empire State (New York) where I happily work and live with my husband and my three children, Francis, Paolo and Matthew. My son, Matthew, had spinal cord surgery when he was only 17 months old and was diagnosed with a rare disease called Sly syndrome (MPS 7).

Since his diagnosis, my son has resided in St. Mary’s Hospital for Children in Queens, NY, so he can get the medical attention he needs. He was allowed to spend a small amount of time with family outside the hospital during the holidays – until October of 2013. Since then, he is no longer allowed to leave the hospital due to respiratory complications.

Matthew was able to move with the support of a walker until his sickness started progressing when he was nine years old. He can no longer walk, even with the support of a walker, and now permanently uses a wheelchair. His respiratory issues have become worse, and he requires the use of a ventilator 24/7. Matthew loves to eat, but he is not allowed to eat orally, as it may cause aspiration. He is currently being fed via gastrointestinal tube.

The Language of Hope

Matthew is now 13 years old. He is loving and very sociable. He loves to spend time with family and other children. He has his own way of communicating with people, including his own language, which his family and very close friends have learned. Despite his current condition, he enjoys attending classes held at the hospital.

Inspiring Others to Advocate

Kathy Sacoulas, Matthew’s first cousin, graciously created “The Matthew Evangelista Foundation” in order to educate others about this illness and hope for a cure. The Matthew Evangelista Foundation’s goals are to:

  1. Increase awareness of MPS 7 and other rare disorders that currently have no cure
  2. Assist those families with members who have rare disorders via contributions that would assist them in gaining resources to help them through their disabilities
  3. Educate others on how to best care for a family member who has a rare disability and how to access resources
  4. Use Matthew’s story to inspire others to never give up and to always have hope for, and a dream of, treatments and cures

To find out more about the Matthew Evangelista Foundation, visit their website: www.matthewevangelista.org.

Helen MPS VII

Mucopolysaccharidosis type VII (MPS VII)

Mucopolysaccharidosis type VII (MPS VII), also known as Sly Syndrome, is a rare genetic metabolic disorder.

Mucopolysaccharides are sugars made in the body that help build tissues such as bones, cartilage, skin and tendons. The body uses enzymes to break down and recycle mucopolysaccharides. In MPS VII, the body does not produce enough beta-glucuronidase, an enzyme that plays a key part in the breakdown of specific mucopolysaccharides. This leads to abnormal storage of certain complex sugars within the cells and tissues, leading to progressive damage in the body.

People with MPS VII may experience joint stiffness, short stature, an enlarged spleen and liver, and heart and lung complications. The disorder can also lead to a progressive skeletal dysplasia, hearing loss, cataracts, clouding of the corneas and in severe cases can cause developmental delay.

Ultragenyx is studying investigational rhGUS as a potential treatment option for MPS VII.

*These organizations are an incomplete listing of rare disease support organizations and are not controlled by, endorsed by, or affiliated with Ultragenyx Pharmaceutical Inc. The list is meant for informational purposes only and is not intended to replace your healthcare professional’s medical advice. Ask your doctor or nurse any questions you may have about your disease or treatment plan.