Let’s say for a moment that you’re a new parent. First things first: Congratulations, we’re so happy for you!
Now, let’s also say that hidden among all the tests and measurements and numbers projecting baby’s height/weight/head size, there’s this bombshell: Your child has tyrosinemia type 1. An understandable reaction would be: “What do we do now?” And that’s where it gets complicated.
Many people will hop online to look for information. Some will just read whatever their doctors give them. Either way, the pickings are kind of slim out there. The National Organization of Rare Diseases has a page dedicated to Tyrosinemia Type 1, along with links to other organizations around the world that deal with rare childhood diseases—though none that are specific just to Tyrosinemia Type 1.
The NIH’s Genetics Home Reference Guide has some information about Tyrosinemia and a few links to sources that deal with Tyrosinemia Types 1, 2, and 3, and…well, that’s about it.
You might also find a few academic sources putting out information. For example, buried on the University of Washington’s website is a handy “New Parents’ Guide to Tyrosinemia Type 1”.
The Guide provides a good breakdown of the genetics behind Tyrosinemia and the special diet required, and it’s written in clear, easy-to-understand language. But it was last updated in 2003. So while it’s a great resource for new parents, at its core, it highlights the need for more up-to-date resources that parents can find easily.
Given the scarcity of tyrosinemia patients, though, there’s just not a huge pool of resources parents can access.
So…what are our options? Should we accept that limited numbers will always equal limited resources? Or should tyrosinemia patients and their caregivers be banding together and making more noise? And if so, who should they be talking to? What message should they be sharing?
There are no easy answers here, but it’s obvious that tyrosinemia is not going away anytime soon.
And as long as children are being born with the disease, parents are going to be hungry for answers and support. We know from experience that great things can happen when like-minded individuals come together—so this month, we encourage you to share your experiences and ideas, and to make something powerful and lasting for the tyrosinemia community. For you…and your children.