Daily Challenges

My 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 VII).

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 VII 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

Mucopolysaccharidosis type VII (MPS VII)

What is it?

Mucopolysaccharidosis type VII (MPS VII) is a rare genetic metabolic disorder.

What causes it?

People with MPS VII do not produce enough beta-glucuronidase, an enzyme that plays a key part in the breakdown off specific sugars in the body. The lack of beta-glucuronidase leads to storage of sugars within the cells, leading to progressive damage in many organs.

What are some of the common symptoms?

  • Cataracts
  • Clouding of the corneas
  • Developmental delay
  • Enlarged spleen and liver
  • Joint stiffness
  • Hearing loss
  • Heart and lung complications
  • Short stature

How many people have it?

It is estimated that fewer than 1 in 1,000,000 people have MPS VII.1

Common names for MPS VII

  • Sly Syndrome
  • MPS 7
The Significant 7: Important facts about MPS VII

If you or someone you care for is living with MPS VII, keep these seven facts in mind as you navigate your journey.

Ultragenyx Opportunities to Participate

Research plays a critical part in advancing science and treatments. Volunteers who participate in this research are essential. Future therapies would not be possible without them. Participating in clinical trials, interviews, observational studies, and disease monitoring programs help to drive research, treatment development, and disease education. It is also a way to advocate for yourself and your community. To learn more about Ultragenyx research, email [email protected].

*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. If you would like to have your group added to the list, please contact [email protected].