One Second

It’s true what they say. It only takes one second for your entire life to change. Everything is different. Uncertainty is the new normal. The day our six-year-old daughter was diagnosed with Homozygous Familial Hypercholesterolemia, a rare disease that can lead to heart disease, even in childhood, was a day of shock and unimaginable sadness. All of our lives changed in that moment. We immediately began wondering how much time we would have with her. Would we see her graduate from high school? Get married? Have children of her own? Could she even have children?

Our daughter’s life also completely changed that day in ways we may never even know. The child diagnosed with a rare disease will face changes in her life that you will only find out as the days and years go on. A large portion of her life is now spent at a hospital three hours away for doctors appointments, tests, surgery to have a permanent port-a-cath put in her chest (which she’s very self-conscious about) and long apheresis treatments every two weeks. She now misses many days of school each year. She misses Girl Scout meetings and dance and gymnastics classes. She misses countless parties and fun activities with friends.

Beside the tears that come when she has to miss activities, we wonder what she’s thinking. What is she feeling? How is she processing all the changes in her life? What could she possibly think when she sees her mom and dad crying all the time? What is she feeling when she hears the doctor tell her parents that a few years ago the life expectancy for someone with her condition was around 20-years-old? When she hears him say that with changes in medicine, they hope to see that number rise as more treatments become available during her lifetime. We’ll spend the rest of her life wondering if we’re doing all we can for her – if the decisions we’re making are the right ones and what impact those decisions will have on her future.

When your child is diagnosed with a rare disease it effects your entire family. In addition to our daughter’s new life changes, the lives of our other children have changed as well. They have had to attend her doctors’ appointments and spend days at the hospital with her. They miss school when we don’t have anyone to help us. They have never once complained about the changes in their lives or all the special attention our daughter receives, but we constantly worry what effect this is having on them.

I’ve often wondered what it would have been like if we could go back in time just one second that day. Not hear the doctor tell us our daughter was “one in a million.” Not hear words we couldn’t spell or pronounce let alone understand. In just one second our lives completely changed.