What if you were told that your child had a rare disease with no known cure? What if you were told that your son might be in a wheelchair by his teens? What would you do? Where do you even start to look for answers?
In May of 2009, our 5 year old son was diagnosed with a degenerative and rare disease called MPS IV B or Morquio B.
It is one of approximately 17 disorders that falls under the name MPS, or Mucopolysaccharidoses.
This is not something a person comes across every day. In fact, most of the doctors we have had to visit for his various tests haven't seen a patient with this condition, or more frightening, have never even heard of MPS. We couldn't find any information when we tried to research it ourselves.
After months of testing, we found out that this disease manifests itself in varying degrees. Our son has a chance of having a life that is not easy, but manageable. We found this very relieving, but truthfully, no one really knows. Only time will give us the answers we are looking for. We also found out that treatment is a real possibility. More common forms of MPS have treatment. In fact, MPS IV A or Morquio A has treatment in trials now.
It didn't take us long to decide that it was our destiny to raise awareness, and funding for research specifically for MPS IV B. Not only to help our son, but to help what seems to be the forgotten few to have a chance at a better, longer life. We have just been accepted by The University of British Columbia to open a fund called "The Priest Family Fund for Morquio B". This fund will be used for research towards a treatment.
One of the first steps towards a treatment is a registry. This is where all data regarding patients with a specific disease or condition is recorded. This data gives researchers information on many extremely important factors relating to the condition.
In April, 2012, we succeeded in meeting our first fundraising goal. We have funded a registry for Morquio B!
The work will be funded through The University of British Columbia. Your generous donations will support the work of Dr. Sylvia Stockler, Dr. Eduard Paschke, and Dr. Clara van Karnebeek. Dr. Stockler is an expert in pediatric metabolic diseases who has championed international research efforts on metabolic disease. Dr. Paschke is heavily involved in pediatric metabolic disorders and has made it a career-long interest to better understand how the gene GLB1 causes two metabolic diseases, one of which being Morquio B. Dr. van Karnebeek also specializes in metabolic diseases and has recently completed her fellowship under the supervision of Dr. Stockler.
This registry is the first step in unraveling some of the mysteries of Morquio B, and is working towards finding treatments and an eventual cure. The team hopes that a registry will clarify research targets and inspire international research collaboration. We are very excited for the outcomes of this great project.
We are continuing to raise funds to support research in all areas of study relating specifically to MPS IV B (or Morquio B). It is our mission to raise funds for research and develop a better understanding of this disease. It is our hope that this research will lead to a treatment.
In supporting UBC, 100% of all donations will go directly towards research efforts relating to Morquio B. As one of Canada’s largest research institutions, UBC doctors and researchers have the passion and expertise to uncover the mysteries of Morquio B and advance our understanding towards a cure.
We are very proud to be raising funds for UBC Medicine.