One year ago today, I got told exactly what was wrong with Princess. It was an endocrinologist, Dr. G, who told us. Apparently, Dr. H, our nephrologist, had already suspected this because she had put Princess on the medication that would be the "tell" and would help with the hyperkalemia and hypertension. I remember when I walked out of the endo's office and we were walking back to the car, I called my mom and told her. She enjoys researching medical things and has actually been following the whole rare disease/orphan drug scene for a long time. She looked it up and that evening, she sent me a bunch of websites and told me that she suspected this back from when Princess was in in PICU almost two months before. In fact, I do remember her saying when we got home that she probably had Gordon's Syndrome, but all we could find at that time was that it was familial and no one that we knew of had it. (Gordon's Syndrome is one of the other names for PHA2.) So we had kind of pushed that idea to the wayside and kept looking, but I knew if someone didn't say something, I was probably going to be fighting with doctors about it, like I had with her milk protein allergy in the NICU. Thankfully, I didn't have to fight with anyone and we were already connected with someone who I have come to find out has diagnosed more PHA2 cases probably on the West Coast than anyone else, and she's only diagnosed a handful.
That was Friday. It was the the three day Labor Day weekend. The following Tuesday we had an appointment with Dr. K, the cardiologist. By the time I walked into his office that Tuesday, I felt like we had had a diagnosis for 3 months, not 3 days! In that time, I spent hours on the Internet reading essentially the same thing on about 6 different websites. I actually found a support group on Facebook! (I guess you can find ANYTHING on Facebook!) And between their files and my mom sending me links, I found a couple case studies. Dr. G had said that Princess would likely be short. I had kind of laughed at her and said, as long as it wasn't dwarfism, which was a whole new can of worms, we'd be fine with that. (I'm not quite 5' tall.) One of the case studies that my mom found was of a 17 year old patient in Asia who was 5'1" tall. That's actually like average for over there, so I'm not really worried about Princess being short. Here brother is probably going to be around 6'. He can get anything down for us!
So, here it is. One year later. Not a whole lot has changed in things. We (as in the whole family) are on a low potassium diet. We've been told that right now as Princess is young, it's better that the whole family take on the diet. This way, she doesn't feel like she's missing out on stuff. Yeah, it kind of makes things difficult sometimes, but otherwise it's okay. When she gets older, we'll be able to tell her what she can and can't have and what's going on. Her medication is still the same. Dosage has increased at times and we're probably due for another increase here soon. But between the meds and the diet, her potassium level has remained in the normal range.
Princess has not been in the hospital since she was 3 months old! Even though she has had 3 colds and 2 stomach bugs. This is a big miracle in my book. Now, am I thinking we are done with the hospital? No. It's always a thought in my mind when she gets sick. But we're doing good so far!
The things that have changed are all with the PHA2 itself. One is that there is finally a test available in the US. But we have been advised to not worry about it right now. Reason: even if we spend the money, she could still turn out to not have it be on one of the 4 genes they know of now. It doesn't mean she doesn't have it, it just means that it's obviously not one of those 4 genes. Plus it doesn't change the clinical side. She'd still be on the meds and the diet. The other thing is that they have FINALLY decided that there can be de novo mutations. I mean, of course there can be new mutations! How else did someone START passing it on and it becoming something that runs in families? This is Princess. Yes, she will have to worry about passing it on to her kids. But that's still YEARS away. So we aren't worried about that right now.
I've actually found another family who actually has familial PHA2 through the support group and have been helping the mom get information together for her one son whom she suspects has PHA2. And I think there is another little one with PHA2, not entirely 100% sure as she has a host of other issues to go another with it. So our little PHA2 support circle is slowly growing beyond my daughter and the other 4 year old in Canada whom I know of.
Princess is doing well. There is always the worry in the back of my mind about her potassium level, but being I can't just have her tested any time, I try not to let that overwhelm me. It doesn't keep me up at night. It just stays prevalent in my prayers. God told me He had her and I trust Him. He's got a plan for her, I just don't know what it is.
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