Caution: Heavy Load Ahead

I hear that Beatles lyric in my head... I heard the news today, oh boy...

Suffice it to say, our lives changed today. Anna has been diagnosed with Rett Syndrome, the most physically disabling of the autism spectrum disorders.

One evening a few months ago, Manny was finding himself discouraged and growing increasingly more impatient to find an answer as to what was going on with our baby Anna. We just wanted to know. It had been months since we began our search. He called Rafa for a quick catch-up, and Rafa had told him then, "While science can't always explain everything, something you can always do is just to love her." So many days and nights since then, Manny and I reflected on that. We just kept loving her. She knows so much Love.

Today, when I got the call from Ellen, the genetic counselor, I was in Target, grabbing a few things like eye patches, baby food, and a toy box. The reception was terrible, but it was well enough that I knew it was Ellen, she had results, and to call her back. I wanted to drop everything and run out of the store. Which, basically, is what I practically did. "Anna, let's boogey!" as I threw in a pack of PediaSure, checked out and got us in the car in the midst of the pouring rain.

Ellen picked up right away (good woman!) and gave me the results. I didn't get out my reporter's notepad that I've learned to carry along with me everywhere I go for when a doctor calls, or get out my planner to take notes. I didn't even reach for a pen. I just listened.

What struck me as soon as she said "positive for Rett Syndrome" I immediately went back in my mind to Jan. 25, Anna's latest appointment with the geneticist. As he was looking over Anna and listening to Manny and I and focusing so intently, he took a moment and said, "I've got to go think." About 5 minutes later he returned, took a deep breath, and told us he was going to test for it. Everyone was under the impression we were testing for this almost just to rule it out, you know, to get rid of the biggest, most serious of disorder and then start searching for the smaller. Like finding a needle in a haystack. Never did Manny and I even think it would be Rett Syndrome.

I've had a hard day. But I have had some moments of peace throughout the day as more is revealed in my research.

For one, it takes both hands to count the number of people who have told me "just look into Anna's eyes... It's like she knows something so much more than we ever will" or "we are captivated by her eyes" or "you can see so much in her eyes." A dear friend of mine even wrote me a letter explaining to me she had had a few minutes with Anna one day when we went to visit her. She wrote:

"When you were visiting, in between everything else, I couldn't help but just watch Anna and at one point just looking into her eyes I started to tear up. It happened twice and both times I had to look away just to keep it together. It was as though she understood me or was looking into me... I'm trying to refrain from saying she was reading my soul but maybe she was... It was like she was carrying on a conversation only it was too deep and I couldn't keep up.... Her eyes were so loving and caring."

(She prefaced her letter of course by defending her sanity and saying something like this had never happened before.)

I've kept that letter at arms length almost, afraid to open it again. Maybe because I've prevented myself from having those moments with her lately, because I am afraid of what she would find should she read my soul (fear and helplessness on my worst days), and even more scared she would tell me what was going on and I wouldn't know what to do with it. Kind of like right now.

So I am sure you can imagine my surprise when, during my research about Rett Syndrome, I found a loving tribute and a few quotes from the doctor who discovered it. He said, of "his daughters" (Rett Syndrome is only found in 1 in 10-15,000 female births):

"They feel all the love given to them. They have a great sensitivity for love. I am sure of this. There are many mysteries, and one of them is the girls' eyes. I tell all the parents to look at their eyes. The eyes are talking to them. I am sure the girls understand everything, but they can do nothing with the information."

Of parents, he said: "It is the parents who make the most of the diagnoses, not the doctors."

The history of his discovery is fascinating and can be found here.

I count our blessings that we were not misdiagnosed with autism, cerebral palsy (we came close), or just a general developmental delay, as is often the case with Rett children.

We have a lot ahead of us, but from what we can tell already, the International Rett Syndrome Foundation will be of great help (www.rettsyndrome.org). There is so much information, and there is even a Grandparents Network! I love the first paragraph on the grandparent's page, so please click on it.

For right now, we are digesting. We are taking it in. We are somewhat grieving, somewhat unsure, somewhat sad. Taking it one day at a time, but finding it difficult to not plan our lifetime or fear what will be included in hers.

I watched a few videos on YouTube, posted by parents of "Rett Angels" and I weep. I know I need to remain positive, and hopeful, and faithful. But sometimes, it's just good to let it out and cry. It gives the fear and sadness that swells up within me a place to go. The despair that tightens my chest and makes it as heavy as if an elephant were standing on it jumps off and liquifies to warm tears flooding my cheeks. I mustn't feel bad about crying. I mustn't convince myself it's just for the weak or pessimistic. This load is much too heavy for me to take on alone. (ok... God... Manny... Family... Friends... are you listening??)

Ok, here is something I don't do often, and we'll call this ShareTime on YouTube. The following two links stuck out to me more than any of the other I have seen today. The first video shows a little girl, Sierra, with Rett Syndrome, and the mother writes in the video some of the early trouble she had in finding a doctor who would take her seriously and see that something was wrong. I can relate to this on so many levels. It wasn't until someone (....Mom?) suggested genetic testing that I think I actually quit listening to our doctors saying "she was just a preemie, she's catching up, it's going to be okay." Sierra has a twin brother, and it was through the mother's comparison of the two that she knew something wasn't exactly right. I found great comfort in this, because it was my constant memory of Gabriel and looking back at our photos of him that I really became suspect and the "preemie" hypothesis wasn't enough. Sierra's video is here. While our stories are obviously different (and ours is really just beginning), I found similarities, and a sense of peace.

Perhaps the hardest video to get through was Chelsea's, who gave Manny and I the most realistic look into what our future may (or may not) become. The heaviest tears fell on this one.

For more information on Rett Syndrome, we have found these links to be the most informative:

Rett Syndrome Fact Sheet

International Rett Syndrome Foundation

Perhaps one day soon I can sit down and write all of the signs we have seen throughout these past 18 months with Anna, but to summarize, many, many, many ring true.