Saturday, May 7, 2011

The newest results are in.


I was so surprised yesterday afternoon when I received a call from Maxwell's genetics doctor. They called to let me know that the results of his latest test for PTEN have come back negative. Great news, however, it is a double edge sword because we still have no diagnosis. The doctor doesn't want to see Maxwell again unless additional symptoms appear because they have run out of tests for him. In the beginning of this entire adventure with all of the testing and everything Jeff and I kept moving on because we thought what we were doing was going to help. Now I have put Max through test after test and some of them being so painful I will never do it again. For what? Nothing! We are in the same spot we were in before. At our last appointment the doctor was still looking at his head size and running some tests based on that. Now that this test has come back negative she had said that we were going to have to go in a different direction. Now instead they want to do nothing. I'm taking Max back to his original geneticist for a second opinion. I want answers and I feel like we have been dealing with all of this for to long to just come out with an "undiagnosed genetic condition with developmental delays." To some of you it may seem like I am wanting something to be wrong and that couldn't be further from the truth. I want to be able to help my child and give him the best of everything that is out there. I'm also realistic though and I know that genetics is a fairly new medical field and there are tons of undiagnosed conditions out there and it's looking more and more like my child will be one of the undiagnosed. As a parent that is hard to swallow and it's something I clearly will have to deal with. I'm hitting a brick wall and it hurts. I have such a great support system and have made so many friends along the way and I couldn't have kept my sanity this long without all of you. On the flip side maybe this is a good thing because no one will put limitations on Max and we will end up setting our own boundaries. I have to keep looking at the positive! With Mother's Day tomorrow I cant tell you how much I love being Maxwell's mommy and it is something that I would NEVER trade. I hate the days like yesterday when I feel guilty like I have done something wrong or I'm not a good enough mommy. Those days don't help any of us, especially Maxwell. Being a mommy is all I can remember ever really wanting to be and I embrace everything that comes along with it. From the sleepless nights, therapy sessions and testing we are a stronger family, and Maxwell is what made us a real family. My perfect family.

1 comment:

  1. You have such a wonderful attitude! I am sure you are a fantastic mother and if I have any advise for you (as a mother with a son who had an undiagnosed GI problem) keep asking questions until you get the answers. I know you already know this but you and Jeff are his only advocates! Keep on plugging and know that there are those out here who are pulling for you!

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