Thursday, October 6, 2011

2009 - diagnosis day

now, we refer to it as "diagnosis day". but that day, i might as well have referred to it as the end of life as we knew it. in a way, it was the end of life as we knew it. life hasn't been nor will it ever be the way we initally planned. but it was far from the end. 

our perfect little leah had struggled with mobility issues for most of her short life. we worked and worked and worked {and so did she!} until finally, at 19 months, she crawled and then walked at 26 months. her first steps were far from unsteady - all 26 of them straight into my arms. {we may or may not have been holding her jacket and shoes as bribery.}

and, although that april day was one of the most gleeful ever in the layton house, her walking days were just the beginning. as the summer wore on, she began to lose words she previously spoke with ease. and she had trouble keeping her hands grasped on items like her sippy cup or fork. 

it was her early start teacher, jan, who suggested we test her for rett syndrome. leah only showed about half of the characteristics of this horrifying disease {i burst into tears when i simply read the one paragraph synopsis jan gave me} - and the "minor" ones at that. but we'd thus far come up empty handed at every turn and only wanted answers. the more i learned about rett syndrome, the more leah began to fit it like a glove. and i just knew - even without the official results from the blood test - that this was our culprit. 
{leah at one of her many, many blood draws}

so, on the morning of october 30th, 2009, as leah was sleeping peacefully in her room {for once!} - i wasn't surprised to get a call from our neurologist saying that yes, leah had tested positive for a mutation in the mecp2 gene. she had rett syndrome. but i was devastated all the same. i felt the walls crumbling down all around me, crushing dreams left and right as they fell. why this? why leah? why now? after we'd just overcome so much with her mobility, hadn't she suffered enough? after working so hard for such a common gain that most take for granted, other skills would now be ripped from her tiny, chubby little body? her voice. her hands. her control. it was too much too handle. 

within a few months we became connected with some other wonderful "rett families" who have helped us on our way. but i still had two problems:

first, i was sad. really sad. but leah was still leah. she was, for the most part, the same sweet, giggly little girl i had loved from day one. so why was i so, so sad?

second, very few of the rett girls i met actually reminded me of leah. she walked on her own and chewed her food on her own. they didn't. and it made me feel guilty for mourning what, to them, probably seemed like minor losses since they had lost {or never gained in the first place} so much more. 
{leah and ryan waiting for an appointment with the neurologist}

ironically, help for my problems came in the form of an amazing mom who also had a daughter with rett syndrome. a daughter who had far fewer abilities than leah. this wonderful mom, on two different occasions, spoke two simple sentences that have put my heart at ease. 

the first time i ever met her, about a month after leah's diagnosis, i found myself in tears wondering why i was feeling such horrible feelings. as i apologized for the waterworks, she leaned forward and said, "it's okay to be sad." it was such a simple idea, but it hit me like a ton of bricks. this woman knew what i was going through - she had felt the same loss and confusion and heartbreak i was now feeling - and she made it through. she didn't make it through with a perma-grin on her face, skipping down the street. she made it through by feeling and by being honest with her feelings, be they sadness, anger, confusion or even joy in the small triumphs. and now, she had the sense to take her new-found wisdom and use her knowledge and emotion to help others. i'm forever indebted to her for helping me understand that it's okay to feel. it's okay to be sad. and i've found that by allowing myself to feel sad, i'm free to feel the joy as well. 

the second lesson came a few months later when i found myself at a national study for girls with rett syndrome. as i first walked in, leah and ryan by my side, i scanned the room and immediately felt even more alone. these girls, as i mentioned before, were nothing like leah. most fared far worse. and i felt guilty. in a quiet moment, my new, wise friend stopped to chat. i think she sensed what was going on and with a quiet and gentle intensity, looked me in the eyes and said, "it's still hard."

and she was right. 

it wasn't fair for me - or anyone else - to judge my struggles and trials against those of others. the things we are asked to bear, no matter what others think, are difficult for us. and it is still hard. this isn't to say we can't pick ourselves up and move on, but it's nice to feel validated every once in awhile. 
{watching leah after her mri}

almost every day, i look at leah moving around and tell myself {or her!} how grateful i am that she walks. it's a common phrase in our house. she worked hard to get there and she fights every day to stay. it's not something i have ever taken for granted. but simply because she can do certain things, doesn't mean other things aren't still hard. 

my four year old can't talk. she can't express her silly or creative thoughts or tell me when something hurts. that's hard. 

my four year old can't use her hands. she can't scratch her face precisely where it itches. she can't turn the pages of her favorite book. she can't eat her own snacks in the car or feed herself at mealtimes. that's hard. 

my four year old has seizures. she falls down. she gets frustrated when people don't include her or when she can't communicate her needs. she can't breathe correctly - be it holding or hyperventillating. 

and that's hard!

diagnosis day was an awful day. the hopefulness of her delays being a minor bump in the road and eventually living a normal life were gone - the sentence written in ink and finished with a big. fat. period. 

some days since have been worse. and many so much better. but some days it's just plain hard. and so we cry. but we're happy to know that it's okay to be sad. because being sad helps us appreciate the happy.

also in 2009:
 {january - getting those walking muscles moving on pebble beach}
 {february - surprising our husbands with a nice steak dinner and wicked for valentine's day - maren, lindsey, kristen}
 {march - mother's group st. patrick's day party - behind couch: dyan, hannah, maren, jaimi; on couch: kristen, rachel, mary, lindsey}
 {april - breast cancer shirts for the salt lake half marathon}
 {april - SNOW! in utah. leah loved it.}
 {may - see jane run with my fellow ridiculous runner, sarah}
{june - ten year graduation trip to st. george, utah - eva, ben, dan {behind ryan}, ryan, dani {up front}, maren and chris}
 {july - fireworks at google}
 {july - late night swimming at our freezing cold complex pool}
 {august - lake merwin}
 {september - def leppard with the harmans. we're hard core.}
{october - #28}
{october - family pictures, courtesy of julia wade photography}
 {october - halloween. one day post diagnosis. don't ask me who ryan is.}
 {november - thanksgiving with our favorite mcphies}
{december - a surprise date to the city to see the san francisco ballet's nutcracker}


Karen Hauley said...

I remember diagnosis day . . . and your phone call. Love you guys.

Jennie said...

I've loved all your flash back posts. What a great idea to get all of your memories down. I hope you are planning a "blog book" for your family history.

Anyway.... just wanted to tell you how much I loved and identified with this post.

Because my Jackson, is high functioning, I sometimes feel like I have a foot in the typical world and a foot in the special needs world. I feel lucky that I have a son who can do so many things, but yet there are many aspects to his disability that are - as you said - HARD! I too think it is okay to be sad at times. For us, the grief hits at different times when certain milestones aren't met or when you see how trapped he is in his body or mind. You are right... it is different for everyone.

Although life is hard sometimes (it is for everyone), I'm glad I have my testimony and also a confirmation of HOPE that I received long ago. Some days... that confirmation is what gets me through the tough times.

Thanks again and sending hugs through blogland. :)

Cristi said...

I have had chills reading this. You are an amazing mom. Leah is a lucky lady!