First, I want to thank you all for your support during Drew’s surgeries and during our quest to figure out exactly what to do. We love you!
After a $2000 genetic analysis, we’ve learned that Drew does in fact have the classical and most common form of genetic mutation that causes homocystinuria. This is good news and bad news.
The good news: this form of the disease typically responds well to vitamin therapy, without any major diet changes.
The bad news: Drew’s protein levels are way up, even with vitamins, meaning they aren’t really doing what they need to do for him.
So what’s the next step? Well, now we need to go see a doctor that specializes in metabolic disorders like homocystinuria. From there, we will hopefully figure out the right vitamin dosages and diet needs for Drew.When Drew can maintain normal protein levels, that should eliminate or greatly reduce his likelihood of having more eye problems and any blood clots associated with this disease.
As for little baby Westley, we are still confident that he will be perfectly healthy, although Drew insists that he is not allowed to date tall skinny girls (a common sign of homocystinuria) because Westley (and all of our children) will always be a carrier of the mutation, which means that he can pass this disease on to his little ones. We will know at birth if Westley has homocystinuria, so that’s at least a huge plus. But we’re going to have to educate our son, which y’all know I have NO problem with, as the know-it-all gene is definitely expressed in me (a little genetics humor – forgive me for that).