It’s amazing where a year can take you. This last one has been a journey. Pacific will be 18 months tomorrow, and it was the day before his 6 month birthday that we got the call that changed our lives.
I remember the first time I heard of XP. I was sitting the hospital room with Pacific at San Francisco General Hospital. His hands, face, and ankle were blistered and burned. We had him coated in Aquaphor. His skin was peeling away wherever the sun had touched it, even just for a few minutes. I was in a hospital gown myself. I hadn’t left his side in days. The doctors were puzzled, and I started doing my own googling. It came up on a list of disorders causing photosensitivity. And I knew. But no one else even seemed to consider it. My girlfriend told me I was overreacting. That it was one in a million… “What are the chances, Mel?” The doctors didn’t want to talk about it either. Not until everything else had been considered. While we were in San Francisco they just wanted to get him stable enough to come home to Seattle, and let them do the testing here.
On the morning of April 9, 2013, I received a phone call from Debby Tamura, a nurse at NIH. I don’t think she knew that she was the first one giving me the diagnosis of xeroderma pigmentosum. Really, it’s the kind of news I wouldn’t expect to get over the phone. We knew that a few days before the tests for porphyria had come back negative. We knew that there wasn’t much remaining that could have caused burns like that. Still, it hit hard. My then-partner was at work. A friend texted, asking if I needed a shoulder once I’d posted the news, and came straight to my house upon hearing my yes. I went into mom mode. I made appointments. I talked to other XP families. I reached out. I collapsed.
My partner didn’t handle it the same way I did. Kept reminding me that it was a “presumptive diagnosis”…. that we didn’t really know for sure that it was XP, that we shouldn’t get caught up in that being the diagnosis. I on other other hand needed to learn everything I could about this disorder that suddenly was changing our lives. I needed to accept it, to grieve. I had to process the idea that my child might be buried by his parents. I had to grieve the ideas of what I thought my son’s life could look like. I had to grieve the ideas of what I thought my family’s life would look like. I had to grieve the ideas of what MY life would look like. I feel like I’ve done a lot of that.
I’ve come up with new visions for my life with my son and daughter. In it there are UV hoods, doctor visits, NASA blankets, and sunblock. There’s also giggling and ticklefests, children’s museums and aquariums. There is still traveling, though altered somewhat. There’s friends, and there’s family.
I had no idea a year ago that I would be where I am today. I’ve learned so much about what true friendship actually looks like, and what it doesn’t. I’ve learned to cherish the little moments. I’ve learned that love doesn’t always come from the places you expect. I’ve learned that I can overcome so much, and so can my baby boy.
Posted on April 9, 2014, in Uncategorized. Bookmark the permalink. 2 Comments.
I have been doing some reading up on XP and came across your story. I thought I could put you in touch with another mum who’s been on this journey for many years now and may be able to offer you lots of support and help…check this site:
Will be keeping you and Pacific in my thoughts and prayers! There is lots of support out there, you are not alone! Keep strong 🙂
We too discovered what our son’s “mystery illness” was from the internet! Thanks for sharing your story.