Kobe Taylor

Diagnosis: MPS II

Country: Canada

The day Kobe was born, in January 2005, was the greatest day of my life. He was a remarkable baby…always happy and no trouble at all. Everyone told me how lucky I was and I felt as if everything was perfect.

However, at four months, after noticing Kobe’s head was enlarged, I took him to his pediatrician and asked if his head circumference was in the normal range. A CAT scan and a MRI at Toronto’s Hospital for Sick Children led to a diagnosis of hydrocephalus. Then, at thirteen months, after recognizing that Kobe was suffering from speech delays, we were sent to the Department of Genetics and were told that Kobe likely had Mucopolysaccharidosis (MPS).

We had never heard of MPS before, so I googled it and printed some information on the disease. I remember sitting at work in shock about what I was reading.  This could not be happening.  When the test results were in we went as a family to Sick Kids to receive the news. Sitting before several health professionals in the room, we were told in March 2007 that Kobe had MPS II, otherwise known as Hunter syndrome. I sat in silence while Kobe’s Dad asked questions.  Although I had an idea of what we were getting into, Kobe’s Dad did not, and it knocked us both off our feet.

After we left the hospital, I stood on University Avenue and cried and could not stop the rest of that day.  How could I make my little boy better?  Although there was much I yet had to learn about MPS II, I knew enough to know that I could not fix him and that fact was killing me.

Not too long after Kobe was diagnosed there was a treatment approved in Canada to treat boys like Kobe with MPS II. In February 2008 I went to my first Canadian MPS Society meeting in Toronto to find out more.  At the meeting I met Kirsten Harkins, executive director of the Canadian MPS Society, Judy Byrne, the chair of its board of directors, and many other wonderful people who understood what I was going through.  I was still overwhelmed by the diagnosis and prognosis and found it difficult to open up to those I met.  Even so, everyone was so supportive.  I was inspired by a talk given by society board member Simon Ibell, an active adult with MPS II. I was so thrilled to hear about his experience with enzyme replacement therapy (ERT) as part of the clinical trials.  Hearing about the improvements to Simon’s health on treatment gave me hope for Kobe’s future.  A few months later I gave the society a call and Kirsten answered the phone.  I wanted to know how we could get Kobe on ERT.

Kirsten directed me to the proper people to write letters to in order to gain support for Kobe’s treatment funding request.  At that time, ERT was not being funded for those with MPS II in Ontario, but with the Society’s support, we didn’t give up.  It was a long journey, but the Society was with us every step of the way, and in June of 2009 – two and a half years after he was diagnosed – Kobe had his first infusion.  Without the support of the Canadian MPS Society, I don’t know if that day would have ever come.

Last June, I was invited by the Canadian MPS Society to thank Ontario’s Deputy Minister of Health in person for developing a new framework for evaluating rare disease drugs.  ERT for MPS II was the first drug piloted through this new framework, and it was a thrill to be able to express the gratitude I felt that this new process existed, and how much treatment means to my little boy.  We may not be able to “fix” Kobe completely, but at least we now know he’s getting the best chance possible for a brighter future. 

Ayşe Nihan Uğuz