So after all our waiting the test results are finally back! Three weeks of waiting! I think it had to do with Thanksgiving because it took a week longer this time. Let me clarify since there seems to be a little confusion when I said he was being tested for IRD since I have already said he was diagnosed in my first post... Well he was unofficially diagnosed with it by two other doctors who felt like they didn't want to make it "official" until we saw this geneticist in Phoenix and the testing that we had done were the same blood tests plus one that we had done in September. The geneticist knew he had a PBD but didn't want to commit to IRD until he had a confirmation test. Anyway the geneticist office called today saying they wanted me and my husband to come in together to see him. Well as of 12:01 this morning Landen is no longer insured so I told the secretary that we have already had the "bad news" its just a confirmation test so please see if he would make a phone call instead. So less then 20 minutes later there was the call... and although we already knew its still hard to hear the confirmation test confirmed that he had a PBD on the mild/moderate end. (there is a picture
of the zellweger spectrum of diseases) In other words he has IRD but not the mildest form... there is still the chance that it could be NALD because it is more moderate but he thinks it fits closest to IRD so that is what we will stick with. Our next step once we get Landen insured again is to do DNA testing to find out just which genes have the mutation that will give us even more information. Don't let the terms mild or moderate fool you it doesn't matter which one it is the prognosis is fatal... we are just talking about how long it will take the disease to progress to that point.The good news! Our pediatrician told us to avoid red meat, fish, dairy and green veggies but he wasn't sure about the green veggies just avoid them to be careful. Well geneticist and nutritionist agree that green veggies are safe because the substance we are trying to avoid are bound in a way that humans can process them straight from plants. Some animals can such as cows for example eat plants and break them down and the VLCFA (very long chain fatty acids) move into their fat so their meat and products give them to us. You and I processes them in our cells but Landen's cell are "broken" and he can't. So tomorrow we can feast on broccoli, green beans and spinach if we want!! Good news cuz if you haven't notice most veggies are in fact GREEN!
The last few weeks have been pretty calm for us not long trips mostly just waiting around for results at home. It was a little rougher for me having all this time to sit and catch up with everything. I had my low moments but I always know who I can call to make me feel better. It seems like I was too busy to think about it much. We had a nice Thanksgiving made Landen his own special pumpkin pie with almond milk instead of canned milk... he didn't ea
t it... He went through a week long period where it was a fight to get him to eat anything. We decorated our tree and are looking forward to our visit to Utah for Christmas and Johns wedding. Landen is working on walking trying really hard and landing on his diaper a lot. Brayden is almost crawling he rolls and army crawls now and has also started self feeding. I wasn't expecting it at 6 months since Landen just picked up that skill last month. Its strange having Brayden after Landen I'm constantly surprised at how fast he is growing and developing compared to Landen. I can't believe his development catches me by surprise heaven knows I've had plenty of baby experience but I always compare him to Landen first. Although this doesn't seem fare to Landen... Landen should only be compared to Landen he can't even be compared to others with this disease since it is so different with everyone. I'm a proud Momma to see Brayden grow and develop so well... and I'm a proud Momma when Landen learns a new skill no matter how small!
