Five Years Ago, the hardest decision I have ever had to make

This time of year is always a big time of reflection for me, especially as this year is 5 years since Mia was diagnosed. After Mia was diagnosed with Pompe Disease and we were told of the trial, we felt so hopeful that Mia may be OK, at least I thought so initially. As we tried to absorb so much information, many questions went through my head. Perhaps this medicine MAY help her, but at what cost to her QUALITY of life? How painful are the procedures? Are there side effects? Will we be prolonging the inevitable? Will she be alive, but dependant on artificial ventillation to breathe and have limited movement? These questions went on and on.

Tomorrow will be five years since we first spoke to the most AMAZING Nurse Practitioner at Duke University Medical Center. Prior to this call, I had my family over the house as they helped me come up with a list of questions to discuss with the NP. It was such an overwhelming time, I needed as much support from everyone around me. I needed as many ears listening to what the NP discussed with us as Sean and I could only absorb so much. We essentially had two options. The first would be to be aggressive and treat her by enrolling her in the trial. The second would be to keep Mia comfortable, get Hospice involved and enjoy the little time we had left with her. I made it very clear to the family that whatever Sean and I decided to do, I hoped they would support our decision.

Our conference call began at 1130am. We asked all our questions and felt comfortable making our decision. It was decided that Mia was a good candidate for this trial, the side effects were minimal, and treatment could be stopped at any time if we felt that she was in pain or that her quality of life was not what we felt she deserved. As scarey as it was, we decided to pack our bags, leave our jobs, and move to NC and give Mia her second chance at life. Thank you to our friends and family, without the emotional and financial support, I do not think this would have been possible.

We were anticipating flying out to NC on the 4th of July, giving us very little time to make so many arrangements. First, Mia's Baptism was scheduled for July 10th, but we would be in NC by then. I called the church, it was the first time I cried that day. The poor receptionist, I told her I needed to cancel Mia's Baptism and reschedule ASAP as she was very sick. She spoke to the priest and told me he would be at the house in 20 minutes. It was not part of our original plan (I guess like everything else since Mia was born), but Mia was baptised on our kitchen table. It worked out perfectly as the family was already at our house. We all looked terrible, exhaused. Mia, on the other hand, looked beautiful in her white gown. It amazed me that a child who looked so healthy was so sick.