Honoring Children with Rare Diseases

In April of 2015, Helen (Matthew’s mother) was invited by Dr. Kakkis and Ultragenyx to attend a conference in San Francisco honoring children with Rare Diseases. Helen and her family attended this conference and represented Matthew and informed others of his foundation and his current condition. While there, they visited Ultragenyx (Dr. Kakkis Pharmaceutical Company) where they saw that a room had been dedicated to Matthew.

Enzyme Replacement Therapy

In the Fall of 2013, Dr. Emil Kakkis reconnected with Matthew and asked to start him on a clinical trial involving an Enzyme Replacement Therapy. He had been working on this for years and finally, he came back to us with it as soon as he could. It was very timely, as Matthew’s symptoms were worsening and it didn’t seem as any relief were in sight.

And in historic and somewhat surreal fashion, on in October of 2013, Matthew received his first infusion from Dr. Sly (the physician for which his syndrome is named) and from Dr. Kakkis. It was a great day and really momentous in the care of Sly Syndrome and other MPS disorders. We were so happy we could be a part of it and that Matthew could receive this at such a crucial time.

Since then, he has continued his ERT (Enzyme Replacement Therapy) with great results. HIs symptoms have been alleviated and his comfort levels have definitely increased. We are so thankful to Dr. Kakkis and his staff for their never-ending support and persistence.

–Kathy Sacoulas–
kathysacoulas@gmail.com