There are so many issues with having a child with a rare condition. I haven't met a single non-medical person who has heard of Urea Cycle Disorder (or defect, or deficiency). People ask why Luca was in the hospital for so long. I say "she has a metabolic disorder in which her body cannot process protein - it's a life threatening illness that does not go away."
I cannot tell you how many people have responded with "oh so she has reflux?" People don't get it. But why would they when it's such a rare disorder (although not as rare as you'd think). This disorder needs more awareness. There are estimates that 1 in 10,000 people has a UCD, whether diagnosed or not. There is also information that suggests that about 20% of SIDS cases are really metabolic disorders that weren't diagnosed.
My frustration today is that we have so much fight getting her medications. Her medicines aren't ones that many pharmacies have heard of. In fact, where we get her most important medication from, she is the ONLY patient they have ever had to order this medication for. They know both me and Luca by first names, and we've become friendly with all of the pharmacists there because of how important her medicine is.
We found out that one of the medications we had filled wasn't filled properly. You see, our pharmacy had to special order it, and the manufacturer they got it from shipped a powder that wasn't trustworthy. That's why Luca was back in the hospital for 2 nights - all because the medication wasn't pure, as close to 100% pure as possible. It had a filler in it. Scary!
So now we've tried tracking down the medication from another pharmacy - a pharmacy that can special order it from a more trustworthy manufacturer. It's been a constant battle.
We thought we found another pharmacy to do it - and then I followed up to see when the shipment should arrive, only to find out they had ordered a different brand. That different brand is the same one that provided us with non-trustworthy powder last time. Back to square one! The doctor's office called the new pharmacy to ask why they hadn't ordered the brand they had specifically asked for - the pharmacy explained that they ordered the cheaper version. Well, that's ridiculous!
So now they've ordered the correct version - but it will take 10 business days to arrive. Now we have to drive over 1/2 hr to a different pharmacy that actually has the correct med in stock.
See this craziness? All of this madness just to keep this little girl healthy and happy!