Not really sure what to say...

In fact I'm not really sure what to feel.

This last week we took Davis and Beckham in for their hyperphe tests. There is not much information that is really reliable about Hyperphe out there. I guess its even more rare than PKU, which is already rare. But to have a genetically mutated gene is really rare. That is great news for us though since that means Davis and Beck's don't have full PKU but at the same time its makes it frustrating since there is no real standard of treatment.

Last year when I met with the States leading Metabolic Dr he told me the diet started at 300, brain damage could start at 360. I got Beckham's results today...

329

My heart plummeted. That meant our entire life was going to change. I was so sure we weren't going to be doing the diet since they expected that Davis and Beckham's numbers would be the same since they both inherited the same muted genes. I started calling anyone and everyone (literally) to get answers. I had to know how to do the diet- TODAY! I would never be able to forgive myself if my perfectly "normal" child ended up mentally retarded because I didn't act fast enough.

Dr Longo is on vacation and so his partner called me back. Yes, I demanded the States leading Genetic and Metabolic Dr call me before he left the office-TODAY, tomorrow was to late :) He was not concerned one bit. He told me that I had the numbers wrong and that they don't do the diet unless a child's numbers are consistently over 360, brain damage occurs at 600.

Its so frustrating because there is no set standard. It varies from one Dr to the next, one website to the next. In AZ they didn't even diagnose Davis with the condition (which makes me so grateful that Beckham was born in UT). Its just so rare. Luckily Davis' number came back today at 209.

But here is another thing that is bugging me. Last year I was told the numbers don't fluctuate much. Seriously!?!

Davis goes from 271 to 209 in a year.
Beckham goes from 184 to 329 in 6 months.

That seems like a lot of fluctuating to me!

I was feeling better after talking to the Dr and we decided that he would send me the stuff to do some heel prick tests to be run through the newborn screening. 3 of them, each of them 2 weeks apart and make sure that he hadn't eaten for 2 hours before. This would give us a good baseline for Beckham's average numbers. I can handle that. But then I got another phone call.

I do want to say here that I LOVE our Pediatrician Dr Marsden. LOVE, LOVE, LOVE him! He doesn't know anything about Hyperphe mostly because NO ONE does. But there is a new geneticist who is opening a clinic in St George and they are friends so he called her and told her the situation. Her response: I need to see that child in the next week. Seems like she thinks it a big deal. Our apt is Tuesday.

Round and Round we go.

Round and Round my emotions go.

I'm so afraid that I'm going to miss something along the way since all of the momentum I have about their condition is because I ask, I call, you could even say I demand! But seriously this is my child's future. That's my job.

But what if I miss something?
It scares me.

That's the bottom line. I'm scared about the unknown. Give me the diet and I can handle it, give me the thumbs up no diet, I can handle it. Give me the ambiguity and I'm going NUTS!

This also came on a day when I have been advocating for Caleb in school to get the equipment and treatments his asthma needs in school. His asthma has been bad. Really bad. We are trying all sorts of new meds and have really stepped things up. Long story short the Principle is lazy and doesn't want to jump through the necessary hoops to get him the treatment he needs in school.

The first time I called I left her a message saying that I needed to set up a "medical plan" for him. Those were my actual words. I knew that's what it was called because of someone I know who works in the schools. She said she had no clue what I was talking about. Her exact words were, "I'm not really sure what you mean by medical plan." I tried to explain it and she acted like she had never heard of anything like that.

After consulting with the district nurse and also the lady I know in the district I thought I needed to do a 504. That is A LOT more work for the school. Today I introduced myself to the Principle and told her that's what I thought I needed and she told me that was totally unnecessary. Then she had the nerve to say to me, "I don't think a 504 is a necessary, what you need is a Medical Plan."

Did you catch that? Ummm...I thought you didn't know what that was! I'm so proud of myself for calling her out on her lie. My words, "That's weird because when I first called I asked to set up a Medical Plan and you told me you didn't know what that was."

She gave me some lame excuse and changed the subject. I just wanted to yell at her, I'm not some 5th grader. Just because I may not look like an executive and just because I choose to be a stay at home Mom doesn't mean I'm not intelligent and it certainly doesn't mean that I'm so stupid that you can lie to me and expect me to not see it. And please don't think you can intimidate me into just dropping it because you don't think its important.

So what if all 3 of our kids have special medical needs.

They are our perfectly imperfect children and I will be their advocate in every way I can to make sure they get the help they need. That's what people who belittle stay at home Moms don't get. THAT is my job. I am educated. I am intelligent. I am passionate. I cant think of a better way to put that to use that in favor of my children!

So that's where I'm at here at the end of the day. My house is trashed since I was on the phone for over 4 hours today. I'm exhausted.

Physically, mentally, emotionally.