Scary Thought

Today on a whim I decided to do some research about my sons condition. I learned a lot and have affirmed some things I already knew. There are two types of genetic mutations CPT I and CPT II. Jasz is in the CPT II category. Within that category there are three groups under which symptoms manifest. The age of onset is largely determined by the individual person. Often there is something that triggers the onset, as someone can have the mutation but go asymptomatic their entire life. One article I read believes the number of people with the mutation is actually much higher than recorded but two factors prevent an accurate count: Many Dr.'s know nothing about it so when an adult develops symptoms they diagnose them with Chronic Fatigue or Fibromyalgia, and secondly, many go asymptomatic until something triggers it so they have it but have no symptoms so it's not tested for. Several different articles indicate that prolonged exercise, fasting, dehydration and viral infection can all be triggers for onset of symptoms. well let's see Jasz seemed to develop normally until about 6 months of age, Dr. carter stated that at the beginning. What happened at 6 months....oh yeah we got the Swine Flu...hmmmm.

The scary thing is it seems as though Jasz' variety is contained within his skeletal muscles but since he hasn't had a muscle biopsy and specific genetic testing that may not be entirely true. I believe from what I read and what Dr. Carter told me that if it did affect other systems he would be throwing protein from his kidney's. She tested him for that and he was not throwing protein from his kidney's. The GI tract is often affected with all three varieties. The research I read showed many times the initial symptom is heart failure (see list of related links on the right side of my blog), and they are beginning to think that some SIDS may be a result of CPT II.

Some states have begun to expand their newborn screening to include CPTI and CPTII testing. In those states they have found when a newborn tests positive and they then test the mother she will test positive as well. Hmmm....makes me think.

I have linked the research I found to my blog because it's just too much to type out and why when someone else already has.

When is a goal accomplished?

So yesterday Jasz and I traveled down to SB for another neurologist appointment. Again things are going wonderfully. She was pleasantly surprised to learn Jasz would continue to receive services. She told me she had been certain that he would be cut off, but she thought he really could still use the services.

She told me that watching him made her happy. She just had to deliver bad news to a family earlier that day and to be able to see such drastic improvement in her patient was uplifting for her. Dr. Carter also noticed improvements I hadn't because I see him every day. Last time she saw him he was walking with his arms out from his sides for more balance but now he is able to walk and run with them down.

I had the opportunity to speak with another family in a similar situation. The difference is they went down the path we were supposed to. The results are drastically different. A bigger facility with state of the art equipment does not mean better results. In fact it means less empathy for concerned parents. My only reason for bringing it up here is that God continually shows His presence to me. He reminds me just how lucky we were and are.

On my drive to and from SB I am given an opportunity to pray and reflect in quiet as Jasz is very silent in the car most of the time. This is what I thought about. I have wanted to write a book since I was a little girl. In fact, when I go back and read my dreams and aspirations as an eighth grader, I thought I would write books someday. Well, I got to thinking..."when is someday?" I guess somewhere on my path I began doubting any ability I had in that regard. At this point in my life though, I think I may have something to offer. This blog has taught me that I have the ability to make people laugh, cry and think.

My mom asked me today what is holding me back from beginning this project I have dreamed of accomplishing. I told her I didn't think people would want to read a book by me. My dad said, "So what?"

You know what he's right. Sometimes our goals won't make us publicly accomplished. Yet reaching our goal fills us with a sense of pride. Watching my son teaches me this. He's not winning awards when he walks up a stair but he clearly feels so proud of himself....like he just did the best thing ever. To tell you the truth, in my heart it is the best thing ever, but it's not an act you think about taking on the road. He doesn't stop trying though, he does it for himself. So maybe I'll take a page out of Jasz' lesson book and do something for myself and not worry about "success" in someone else's eyes.