Three days before the conference I felt an emotional Tsunami engulfing me (by Patricia Adkins, Mucolipidosis II parent)

Family Conference
Personal Reflections

Scientific Conference
Children and Youth Program

My son Jamie was diagnosed with I-Cell disease in 1975 and gained his wings May 22, 1977. I have lived in a cocoon ever since. Having tried twice to join support groups for grieving parents, I never made it past the first meeting. I have never met or spoken with, much less interacted with, a family who had a child with Mucolipidosis until I found the I-Cell and ISMRD groups through Facebook. When I read of the ISMRD conference in South Carolina, I quickly booked my room and registered months in advance to attend. Three days before the conference I felt an emotional Tsunami engulfing me, so I considered cancelling my trip. However, having committed to Jenny Noble to photograph the conference, I knew deep down that backing out was not an option; attending this conference was about more than me. Two days before the conference began, I checked in and skirted the motel avoiding those I recognized from pictures I’d seen on the ISMRD Web and Facebook pages. The night before the ISMRD board’s luncheon, which I had been invited to attend, a picture was posted on the ISMRD Facebook page. There they were, everyone I had seen but not spoken to, sitting in the motel restaurant having dinner. I knew it was now or never. I picked up my camera, headed downstairs, walked up to the table, and took my first photo. With one click of the shutter I began the most incredible four days of my life.

Families and speakers registered Friday night and the excitement began as old friends reunited and new friends met. The enthusiasm continued Saturday morning as most of the children were paired with a Buddy and loaded onto a bus headed out for a day of adventure at the Aquarium and Children’s Museum.

As the buses pulled away, the sessions began. Everyone in attendance — professionals, parents, family members and friends — had one objective: to share and gather as much information as possible about Glycoprotein Storage Diseases. Between the Scientific and the Family Programs, over thirty topics were presented covering a broad range of subjects. During the breaks one could feel the synergy as conversations continued. Doctors and other researchers made themselves available to converse with all, especially parents.

The Memorial Service followed by the balloon release was a loving remembrance of the children who have gained their wings. Eyes were glued to the sky until the very last balloon was out of sight. The turnout was amazing. The presence of so many professionals, caregivers, friends, families and their children cannot be put into words for those of us who no longer have children with us.

For me the highlight of the conference came after the conference was officially over. I was sitting alone in a remote corner when Dr. Jules Leroy, known for being the first to describe the more severe form of Mucolipidosis and naming it I-Cell disease, approached and asked if he could join me. For the next ninety minutes we shared life experiences and laughs with most of our conversation revolving around Mucolipidosis. Taking as much time as I needed, he answered my questions in layman terms and explained the broad range of differences and similarities of ML II, MLII/III and MLIII. As he told me of other children, it was if they were his own, “one child from Spain”, “another child from Japan.” He seemed disconcerted that my son was one of the first to be diagnosed with I-cell but that his medical information (as far as he could remember) had not been forwarded to him. Emphasizing over and over the importance of family studies and data collection, he was genuinely interested in all aspects of my child’s life, from birth weight to our skin grafts to everything in-between giving me a list of medical information he would find useful to add to his data collection. There I sat thirty-five years after my son’s death and his life mattered.

On the way to the conference I had wondered – would I have put myself and my child through the family history study where he would have been poked and prodded, stuck with needles, and forced to be examined by numerous professionals? Could I have withstood the endless questions about my child and his limited abilities? Was it possible for me to endure four days with families I had never met and do more than shed tears? Would I be able to understand any of the topics being discussed?With every picture I took, session I attended, person I met, balloon I released, and tear I shed, I slowly began to break through the cocoon I had been in for thirty plus years. I have emerged as someone who not only believes in the importance of Family History Study and medical/family conferences, but also as one who wants to do my part in assisting the medical field to find a cure for all Glycoprotein Storage Diseases.