Our son, Oliver, was diagnosed with classic galactosemia (type I) in December 2015. Until his diagnosis, we had never even heard of the condition, so his diagnosis came completely out of left field for us. After a rocky start, he is now growing into a thriving, happy, healthy little boy.
Classic galactosemia is a rare genetic metabolic disorder that affects a person’s ability to process the simple sugar, galactose. Individuals with galactosemia are not only unable to process and use galactose for energy, but it also can build to toxic levels in their bodies. Galactose is present in many foods in varying levels, but it is especially important for those with galactosemia to completely avoid dairy products because galactose and glucose are the two simple sugars that make up lactose.
There are currently no treatments or therapies for this form of galactosemia, so we primarily manage Oliver’s condition through his diet and by monitoring certain levels present in his body, such as his Gal-1-P and galactitol, during regular visits with his metabolic specialists and dietitians. Unfortunately, even though Oliver was diagnosed relatively early in his life and we may successfully restrict his diet, there are no guarantees regarding complications and challenges he may face in the future. Rather than focus on all of the scary unknowns his diagnosis carries, we are instead focusing our energy on all of the amazing things Oliver’s life has in store for him.
That being said, I wanted to start this blog for two reasons. First, I wanted to have a dedicated space where our friends and families could stay updated on Oliver’s and could better understand what his diagnosis means for his everyday life. I think sometimes people in our lives, even those we feel especially close to and comfortable with, don’t always feel comfortable asking about Oliver’s galactosemia. Likewise, we don’t always want to bring it up or fully elaborate on what is going on for fear it will dominate the conversation. But I also think we could be missing out on some valuable opportunities to educate those in our lives, not only about galactosemia, but also on the challenges that come along with having a child with a rare condition.
Second, I wanted to offer some of the details of our experience for other families as they navigate through their own diagnoses. I remember when Oliver was first diagnosed, I had a hard time finding information online that was anything other than an explanation of the condition itself or a hard-to-decipher medial journal article or scientific paper on galactosemia. I felt so isolated and alone until I eventually connected with the mother of a little boy with classic galactosemia. Her willingness to share her experiences and offer a friendly ear were so important to me being able to move forward and stop being so petrified about Oliver’s future. If I can play a small part in another family moving beyond diagnosis to a more optimistic outlook on life, than this blog will have been worth it.
John and I consider this story as much ours as Oliver’s right now, but we understand as he grows, this story will become more and more his own. He will have to decide how much of it he is willing to share with the world, if anything at all. Until then, we will continue to narrate on his behalf, hopefully doing some good along the way.
Virginia, John & Oliver