It was April of 2011 when we heard the three letters that would forever change our world – MPS. These three letters were something we had never heard before our son Jasper’s diagnosis. We struggled to understand their meaning and to figure out how we were going to deal with all of the information and emotions that were suddenly and quite unexpectedly thrown our way. When we looked at the face of our beautiful little boy, we no longer saw what we had seen even the day before but now we found ourselves searching his precious face, body and movements for signs and clues, analyzing his every move and word to see if we could pinpoint which type of the disease we were dealing with and how severe and quickly things were progressing.
Jasper was born on Janurary 9, 2009 a healthy 10 lb 3 oz baby boy. We were so happy to bring home our beautiful boy who would complete our family. As a newborn, Jasper was a happy and content baby who slept well and was a joy to be around. About the age of three months we noticed what turned out to be bi-lateral inguinal hernia’s. These were repaired by a Paediatric Surgeon and once surgery was over we were happy to have our healthy little boy back. A few months later we noticed a bump on Jasper’s lower spine when he would bend over and back we went to our family Doctor to question what it could be. We were referred to Dr Timothy Carey, an Orthopaedic Surgeon who completed a set of x-rays. After some analysis and a repeat visit 6 months later we had begun to notice some other abnormalities including a deformed rib cage and short neck. At this point we were referred to the Genetics department at London Health Sciences Centre and this is where our story really begins.
Our first visit with Dr. Sharan Goobie was a series of questions and a very thorough exam of Jasper. Following our visit, both blood and urine samples were given. A couple weeks later we were called to London to discuss the results of the tests and this is when our world crashed. The test samples confirmed that Jasper has Mucopolysaccharides Disease (MPS). Never in our wildest imagination did we expect to receive such devastating news about our beautiful little boy. We continued to question how something so rare and serious could affect our family. Through much discussion and explanation she assured us it was. The GAG levels in his urine were proof that his body wasn’t breaking down and disposing of waste the way it should. Instead, it had already begun to store itself in his liver, spleen and bone structure.
This brings us to July 2011 in Jasper’s journey and after another series of tests including more blood and urine samples, a skin biopsy and DNA mapping it is determined that Jasper in fact has MPS VI. At this point we were introduced to Dr Chitra Prasad who will head up Jaspers care. We learn that Jasper is only the 8th known case of MPS VI in Canada (there are about 70 in the United States and 1100 worldwide) but we also learn that there is a treatment available. Enzyme Replacement Therapy (ERT) using the American made drug Naglazyme. We learn the drug is not recognized in Canada at this point in time and it is very expensive to the cost of $300,000 to $1,000,000 per patient per year. We become aware at how difficult it may become to convince the Ontario Ministry of Health to fund treatment for Jasper.
Our journey brings us to August 2011 when all the paperwork is filed to apply for funding. There were so many steps to be followed, the claim and supporting paperwork had to be completed and accompanied by letters written by experts in the field, sent to our insurance company for review and to the Ontario Ministry of Health. Initially we were denied funding for treatment and decided to launch a very public appeal and using the media and power of social net-working began advocating to the MOH to fund treatment. With much help and support from family, friends and The Isaac Foundation our appeal application for funding was approved. When we heard this news we were ecstatic! A huge weight had been lifted from our shoulders. Our little boy has been given the chance that every child should have – the chance to grow up.
In October of 2011 Jasper had Port-a-Cath surgery in order for his treatments to be administered. Surgery went very well and mid-October, with many mixed emotions, Jasper had his first treatment. We now travel to London (a 2 hour drive from our home) once a week for treatment sessions. Treatment sessions are a full day commitment as we spend approximately 6 hours in the hospital and 4 hours travelling. On top of the weekly enzyme replacement therapy we have also had several appointments with specialists in many fields who will continue to monitor and care for Jasper and the many issues that come with an MPS VI diagnosis.
When we look back on all that has happened since we received Jasper’s diagnosis and the roller coaster ride we have been on since that day in April of 2011 we are amazed at how far we have come. We have had numerous ups and downs but continue to be amazed by the support we continually receive from family, friends, co-workers, community, doctors, church and our new MPS family. We feel blessed that there is a treatment option available and hope and pray it will extend the length and quality of Jasper’s life. We no longer look at his every movement in search of answers and analysis but see our Jasper again. We see ways we can fundraise to find a cure, we see people that we never would have met if it wasn’t for this disease and we continually search for ways to make Jasper’s journey positive and life changing for everyone he touches.