Wednesday, April 18, 2007

New MemoryWorks Catty--but....

Well, the release of the 2007-08 catalog is here. Every year, I get way excited to see what products will be available. I start planning what I "need" to buy. And the new catalog does not disappoint--Piggy Tales; Love, Elsie; new Autumn Leaves Acrylic Stamps; all the new Basic Grey; Crate Paper; Cosmo Cricket; 7 Gypsies. New bling, metals and brads--simply speaking, scrapper heaven.

Yet, this year the zing isn't there. I have so much going on in my personal life that this fades to the background. Which is as it should be. Tomorrow I take Anneliese to Univ of Mich hospital to the Pediatric Cardiology unit, to find out if there is a problem with her heart. Her Echocardiogram last month showed an anomaly. I also have Sophie's teacher conference to find out what steps the school is taking for Sophie to succeed next year in school. My dosage was just raised on my mood stabilizer because the stress is aggravating my bipolar.

And when I do scrapbook? I am doing more introspective pages, pages that reflect where we are in our life as a family. I think it is tiume to pull the Memory Makers idea book, Imperfect Lives, down off the shelf and give it another look through. Our lives are in transition right now, so scrapping only about the light fluffy events seems like a lie--I want our scrapbooks to reflect our real lives. I have begun a very personal book about my struggles and relationships with others. I want to really be on the page for those LOs, so that my children understand me down the road.

So, I still am excited about the MW catalog. That pales in significance, however, to how I will feel once I know my daughters are in a good place, both in the school system and in the medical community. And we will get there--I plan to guarantee it. And of course, I plan to scrap our progress, one day (and page) at a time.

Tuesday, April 17, 2007

Sotos..or not?

Well, after getting a letter from Anneliese's esteemed geneticist in Ann Arbor today, I had to call him. At one point, he gives a list of all her features that point to Sotos Syndrome. Sounds promising, right? At the end of the letter, he says the results of the NDS1 test is normal, and therefore, "these results do not support a diagnosis of Sotos."

So, I call him to ask about this, telling him of studies showing a 90% accuracy of this genetics test to determine Sotos. I also told him I was talking to him one last time before getting a second opinion. He assured me that he was an expert, no need to go further with another doctor, blah, blah blah. So I reiterate that I need a diagnosis, and he asks about the letter--won't it work for the insurance? I tell him that it is conflicting--at one point he says her symptomology is consistent with Soto, but three sentancers later states that the test results are not consistent with Sotos. He didn't see the problem. But, he will send another letter. (sigh....)

So, filled with confidence over my (not) reassuring discussion with the doctor, I sent in my records requests to get all the reports to forward on to a doctor who is aces in Sotos research. I feel like I never got an answer--all he would say was the genetics department liked to be conservative in their diagnosis. Conservative? How about CRYPTIC?? I need an answer about my daughter, not the runaround.

Babysteps, I guess. First step, mail the requests. Second step, wait for the records to arrive. Third step, ship it all to Nebraska.

And the fourth step? Pray.

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.