Wednesday, April 11, 2007


All my life I have been fighting being labeled--only child; leftie; epileptic; brain tumor survivor; grad student; professor; manic depressive. There alway seems to be a preconceived notion associated with a label. In some cases, however, I am finding that a label can be a good thing.

How is that, you ask? Well, I am currently fighting to get a diagnosis for Anneliese (i.e., a label) in order to continue to get her the therapies and doctors she needs covered by the insurance. In the past 6 months, my 3 year old daughter has gone through an MRI, an Xray, an Echocardiogram and multiple blood draws to test for various genetic disorders and syndromes. We have heard our fill of syndrome names from geneticists and developmental pediatricians: Fragile X (blood work negative), Chromosomal abnormality (blood work negative), Marfan syndrome (echocardiogram negative).

We also were told about Sotos Syndrome. Anneliese seemed to fit 85% of the criteria for this disorder, so yet another blood test was order to check for a mutation of the NSD1 gene. Oh, and it will only take 6 weeks to come back. So, I broke down and called at the 5 week mark, and there were the results--normal. Sorry, Mrs. M, we can't help you further.

Meanwhile, I talk to the wonderful people on the Yahoo Sotos support group. Turns out that the genetic test is not infallible, and a clinical diagnosis can be made if your child displays certain traits/criteria. Guess what? She does. So, BANG! 4 days later I on the phone with another specialist at U of M, who I am told is very qualified and open to more ideas than bloodwork. And the mom that told me this had first seen the genetics specialist who was unwilling to help us further.

So, I have hope. I need to know my daughter's prognosis in order to get her more therapies, and know where we are going on this journey through special needs in the school system. I need to know that our family will be OK and get through this.

Above all, I need to know that my advocacy for my daughter will enable Anneliese to become the best person she can be. I will not stop until I know there are no more stones to turn over. This may not be how I pictured motherhood, but by heaven I will give my daughter the voice she has yet to find.


Yellow Fence said...

I'm so sorry that you and your family are going through this. Your daughter is SO lucky to have such a wonderful advocate looking out for her!


Colleen said...

Sounds like you're doing an amazing job of advocating for her and she's cute as a button!! Good luck!