I know, I know. Sometimes I look too closely at Ayden Jane. It is great in that I tend to have a great sense of things being just a little off before they are ever really issues. It is not so great sometimes in that it is hard to relax and enjoy.

So, what do I 'see' right now when I look at her? I see what looks to me like a need to bump her gh. It is so hard to describe, but there is just something in her build that changes slightly. She is also back to napping every day and the naps are actually getting longer again. Not that I mind having her nap, just that it feels like a step backwards. If I put her on the scale I am pretty sure she has gained weight, her hips are fighting with us again and her should girdle is starting to look wimpy. These are all the things I 'saw' last time we needed to bump up the gh dose.

Luckily, I am scheduled to go to FL for the PWS sibling study next week. (Yikes, next week!) I am pretty sure there will be an IGF 1 test in there with everything else. I have been filling out the paperwork that needs to be done before I go but was surprised on Mon. when I got a call from the clinic. Apparently, the tests done on AJ were not definitive as to her form of PWS. Unless that piece of information is available we were ineligible for the study! I think we have it worked out as Dr. Pai, our local geneticist spoke with them on the phone and is willing to order whatever tests need to be done...

So why do we not really know what form of PWS Ayden Jane has? Are we even certain she has PWS if we do not know the form? Yes, AJ has PWS. Her testing went as follows. First we had a FISH test done. This test shows that there are 2 chromosomes in the PWS gene region which means that she does not have the deletion form. The next test done was the methylation test which came back positive for PWS. Near as I can tell, what this means is that they can see that the gene region is shut down. It very likely that this combination means she has PWS/UPD. It is possible, however, that AJ has PWS via the much more rare imprinting defect. So why did we not follow up and determine this fact? Was our geneticist slack? No, Dr. Pai was not being slack. The treatment for both are identical and we are NOT having any more children so it just didn't really matter. (imprinting defect could indicate a higher risk of additional children having PWS)

So, Dr. Driscol wants a microarray done for Ayden Jane. I do not need the information for how to treat her or for genetic counseling, but I am very interested to see if there is anything in it that can explain why she seems to be more mildly affected than many others I have met. Not to say that she will not have her own areas to struggle in later or that she won't fall back behind at some point. (No matter how great a day she has I worry the next will be the beginning of the end) I guess any clue, nugget of info.... that points toward something I can call answers....

Yep, that is the part that I have to fight off. That great and terrible part of PWS, the unknown. It allows me to dream big for her, but constantly reminds me of the mountains she/we will have to overcome. There is only so much that is/will be in her control. It is scary to dream big. When she was born there was fear of what her life would be like. No answers to why she struggled so. Then she began to get stronger and we were excited thinking that she would just outgrow this and have an incredible story to tell one day, until she was diagnosed at 8 months with PWS. That began a whole other sort of grieving process. There is no outgrowing a genetic disorder! So, although I rejoice with Ayden Jane in a way I guess only those who walk the road of special needs parent can understand, there is still an ever present guarding of the heart.