Isaac was born on April 14, 2004. Our midwives arrived at our home just in time to deliver a 10 lb 1 oz baby boy, much to everyone’s surprise. I’m not sure which was more remarkable; the fact that we had him at home or that at 37 week gestation Isaac was already 10 lbs!
He was a dream baby. He rarely cried, nursed well, slept lots and was incredibly content. We were followed by the midwives for the first 6 weeks after his birth, and at our final appointment were informed that he had some symptoms of a rare overgrowth disorder called Beckwith Wiedemann Syndrome. We were naturally very upset. A referral was made to the Hospital for Sick Children (HSC), and so our journey began.
Isaac was followed regularly by Dr. R. Weksberg and Cheryl Shuman in the Genetics Department at HSC. The diagnosis of Beckwith Wiedemann Syndrome was never confirmed, and over time they became more puzzled by Isaac. He didn’t quite fit into any of the known overgrowth disorders, yet he presented with enough symptoms to warrant follow-up. Some of these symptoms included growth over the 97th percentile, an umbilical and inguinal hernia, ear pinches and enlarged liver and spleen.
On September 28th, 2005, we were at a routine appointment at HSC with both Dr. Weksberg and Cheryl. We mentioned that Isaac’s lower back was slightly rounded, without thinking much of it. This prompted Dr. Weksberg to ask a whole new series of questions, as well as order a back X-Ray and urine test. She didn’t tell us what she was investigating at the time, and we weren’t worried.
The following day we received a phone call from Cheryl, asking us to come to HSC for an appointment with Dr. Joe Clarke first thing the next morning. We panicked. She only told us that they felt Isaac had a different type of disorder altogether, something called an Inborn Error of Metabolism. My first question was whether this would be fatal, and Cheryl said something about there being a wide range of types and severity within this broad classification…but she didn’t say no.
It was a week before we received the results from the blood work, and we were surprised to learn that Isaac had a different and rarer form of the disease – MPS VI. We are very grateful that this type of enzyme deficiency does not cause a buildup of compounds in the brain and therefore Isaac will be of normal intelligence; however all of the physical problems remain. Dr. Clarke feels that because Isaac has presented at such a young age, he must have at least a moderately severe case of MPS VI.
Already Isaac is unable to extend his arms directly over his head due to stiffness of the shoulder joints. He also suffers from corneal clouding, enlarged organs, and an umbilical hernia, which will be operated on in November of 2006. In addition, Isaac has had major spinal cord surgery this past April to relieve severe compression just below his brainstem. We were fortunate to have become aware of this compression via an MRI scan prior to it causing any clinical symptoms.
There is no cure for MPS VI, although in June of 2005 a new therapy was approved by the U.S. FDA called Naglazyme. This is a type of Enzyme Replacement Therapy (ERT) requiring IV infusions of the enzyme that Isaac is missing – once per week for the rest of his life. The cost runs between $300,000 and $1,000,000 per year, depending on body weight. We spent the next 8 months lobbying the provincial government to pay for this treatment, after learning we could bring it to Canada under the Special Access Program. Our story was on the front page of the Globe and Mail, in the Toronto Sun, Global TV, local papers and on the radio a number of times, and we were brought up in the Ontario Legislature two times by Elizabeth Witmer, the Opposition Health Critic. In July of 2006 we finally got word from George Smitherman, Minister of Health, that the Ontario Government was willing to pay for Isaac’s ERT.
MPS VI is considered an ultra rare disease (we are aware of only 3 other affected children in Canada). There is minimal funding allocated specifically toward research into treatment of this disease, and most of the medical community in unaware of it’s very existence. Dr. Clarke has informed us that it takes approximately $100,000 per year to run one project with one researcher full time. So that has become our goal, to fund research so that a better treatment and cure for MPS VI can be found in time for our son.
**** Isaac with his friend, mentor, and hero, John Mayer.