Reflections on the 1st International Conference on Glycoprotein Storage Diseases

How Could I Not Attend?
by Bill Skojec
Sialidosis Parent

I am writing to share my experiences regarding the first ever International ISMRD conference which addressed the genetic lysosomal storage disorders that plague families like mine who were gathered together. I was there on behalf of my son, Alexander, who has Sialidosis Type II. Alex was not able to attend the conference as a result of illness. In fact, I was contemplating not attending the conference, as I was also ill at the time and had actually called in sick to work the first morning of the conference. However, as I sat in bed that morning weighing if I should go or not, some very clear thoughts came to me. First, and foremost, was the thought that my son had sacrificed so much to this disorder and remained an inspiration to me and all of those who work with him. How could I not attend? The second thought was that I would be missing the opportunity to meet with some of the people I have corresponded with via the internet and telephone for some four years now. Again, how could I not attend? My final thought was that I would be missing the most important research in this area by some of the greatest minds in the world today. I could not pass up such an opportunity so I did attend the conference and the experience was among the most valuable to me in my entire life. I would like to tell you why this had such a profound affect on me.

The conference was a huge success in my eyes because it brought families like mine together with each other and also with the dedicated, hard-working researchers trying to make a difference with these disorders. I felt a strong bond with the other families as we sat and shared our stories. Many of these families had traveled great distances to attend this event. It was especially meaningful to me to meet Zeny Christian, who had the strength and inner fortitude to attend the conference despite having lost her granddaughter to Sialidosis. We shared our experiences and looked hopefully to a future where families would not have to face such loss. I was also happy to have the opportunity to see Ida Ryan, Perry Huneault, and their son, Tyler, again. Tyler has Sialidosis and was born two weeks apart from my son Alexander. We have tried to catch up with each other every year at Dr. Suleiman Igdoura’s laboratory in Hamilton, Ontario. Dr. Igdoura is also researching possible genetic therapies for Sialidosis.

There were many researchers present who offered us some hope and optimism that there would one day be a cure for these disorders. None more relevant to my son, than Dr. Alessandra d’Azzo, who took the time to spend an afternoon with the families like mine who had children afflicted with Sialidosis. Her dedication and devotion to finding a cure for this disorder were as apparent as her warmth and compassion. I was moved by the fact that she understood the pain we all carried and did not just stick with research findings in detached manner. We are truly lucky to have persons like her involved in this research.

My final thoughts about the conference concern Paul Murphy, the president of ISMRD, and the other board members who devote their time to these disorders. I had contacted Paul four years before when my journey with Sialidosis began. He was one of my first contacts in those days and was instrumental in helping me find others to talk with and share my experiences. He also created Alexander’s Hope - a webpage that continues to be part of the ISMRD site. This webpage with our story has put me in contact with people from all over the world who have children diagnosed with Sialidosis. Until I met him at the conference, I had no idea how much time and hard work he devoted to ISMRD. His efforts regarding these disorders afflicting our children are truly amazing and I would like to tell him how grateful I am for all he has done. I would take part in another conference without reservation and look to the future with hope and optimism that one day a cure will be found.