Jasper's Story

Jasper Dennisun More was born, January 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 baby Jasper was usually a happy and content baby who slept well and was a joy to have around.

Around the age of 3 months we went for a routine check-up with our family doctor  and questioned what turned out to be a bi-lateral hernia, meaning and inguinal hernia on both sides.  We were referred to a pediatric surgeon in London who would repair the hernias.  At the same time, she mentioned, Jasper also had an umbilical hernia which they wouldn’t do anything about right now.  (This is the reason his cousins have dubbed him “The KING of OUTIES”)

Following surgery to repair the hernias, we assumed everything was great, we had our healthy baby boy back.  About 3 months later, we noticed a small bump on his lower spine would appear when he would bend over.  We questioned our family doctor at our next appointment , and he referred us to Dr Carey, a Paediatric Orthopaedic Surgeon, also in London.  At this appointment Jasper had some x-rays taken and we were told he had what was believed to be lumbar kyphosis.  He suggested we wait it out for a period of 6 months in hopes that with growth and time it would be corrected as his bones continued to grow and mature.

After a long 6 months of waiting, we did not see any change in the appearance of Jasper’s spine and we also noticed he had started to develop a deformed rib cage. The bottom of his ribs seemed to flare out and his chest had started to protrude slightly.  On our return visit to the orthopaedic specialist, we pointed out these changes, and Dr Carey ordered more x-rays.  Upon studying the newest set of x-rays we were told that “something just isn’t quite right with his bones.”  We were told all his bones were present and they appeared to be the right size, but the formation was not quite what it should be.  It was then that we were referred to a Genetisist in the hopes of detecting what was going on.

Approximately 6 weeks later we were introduced to Dr Goobie.  After asking us many questions and doing a thorough exam of Jasper she ordered both blood and urine tests.  When the results of these were received we were called to London to meet with Dr Goobie and this is when our world crashed.  Never in our wildest imagination did we expect to receive such devastating news about our beautiful little boy.

In April of 2011, the blood and urine tests confirmed that Jasper had Mucopolysacharides Disease (MPS).   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.

There are various types of MPS and the next step in Jasper’s journey was to determine which specific type of the disease we were dealing with.  We were told that type I and type II were the most common and this is what they believed Jasper had.  Another blood sample was taken in hopes of determining the type.  After a long couple of weeks waiting for the blood test results, we were called to return to London for yet another blood sample.  The first results came back showing negative on type I, type II and type VII as well.  Dr Goobie was surprised as she felt very certain he would have had one of these forms of the disease.  At this point in time, we also agree for a skin biopsy to be done which takes much longer for results to arrive, but will be 100% conclusive.  In the meantime they continue to assure us that he has MPS and we begin to research the other types they are now testing for. 

Two more long weeks of waiting and worrying and we are told the results of the blood work are pointing to type VI but still inconclusive, we must wait at least 4 more weeks for the skin biopsy results.  Upon hearing that it appears to be type VI we are ironically happy.  The major difference with type VI is that it does not affect the brain and cognitive function and we see this as such a huge positive.

After waiting four more long weeks, we arrive in London for an appointment with Dr Goobie and we now meet the newest member of Jasper’s medical team, Dr. Prasad, Metabollic Specialist.  It is at this appointment we learn of the results of the mapping of Jasper’s DNA that they had started a few weeks back.  It has been confirmed that he has type VI and we review what this means and where we go from here. 

We learn that Jasper is only the 8^th 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 $1,000,000.00 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.

At this point in time we learn of an amazing family in Campbellford, Ontario who has gone through an MPS VI diagnosis and successfully advocated to receive funding for treatment.  From the moment we contacted them, Andrew and Ellen McFadyen were a true blessing to our family.  Parents to Isaac who is 7 years old and has MPS VI and Gabe who is 5 they offered emotional support, advice, kindness, encouragement and assistance in obtaining funding for Jasper.  They have founded The Isaac Foundation, a registered charity, devoting all proceeds toward research into MPS type VI exclusively.  Isaac has been receiving ERT, funded by the Ministry of Health in Ontario for approx 4 years now.  He was the first in Ontario to seek and be approved for funding.

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 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 and we started the process of appeal and advocation.  With much help and support from family, friends and The Isaac Foundation our 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.