Thursday, April 8, 2010

Savannah - Our angeL - Her Story

Savananh was born on a cold winter day in Sydney Australia, surrounded by love.  I don't think I've ever been happier than I was in that moment.  Here was this tiny bundle, a daughter, all I'd ever dreamed of, placed in my arms, a gift!  The night she was born I didn't want to go to sleep.  I just wanted to have her next to me and look at her!  June 30, 1999, everything was perfect in my world!

Fast forward to March 2002.

I was 14 weeks pregnant with our second child.  My husband Peter and I had moved from country Australia to the fast paced Los Angeles for Peter's work.  My days were filled with watching Savannah draw, devour books, swim and her favorite, collect pine cones in a little red wagon she would pull along behind her.  Somedays, I had to pinch myself at how lucky I was.  However, around this time my happy world was to be shattered....if I had've had a crystal ball back then I wouldn't have believed what was about to happen to my "perfect" little baby, my world..Savannah!

I had noticed Savannah's right eye appreared to have turned in towards her nose and her walking seemed to be getting a little on the wobbly side.  After visiting countless doctors, who assured us all she would need was a small operation to correct the turned eye, we met with one who was about to change everything!

The doctor at the L.A Childrens Hospital ordered an MRI immediately.  I wasn't concerned at all, it was just a precaution she told us.  I've had three phone calls in my life that have changed me, this one would change my life, my world, and everybody around me, forever.

 At four a.m. the morning after Savannah's MRI, I woke to the soothing sound of the shower running, reminding me that Peter would be leaving early, for work in Atlanta. With an hour or more for sleep, before he’d go, hard as I tried, my anxious mind wouldn’t let me back into my dreams. I couldn’t wait to call the doctor and get the MRI test results. At nine a.m., before I had the courage to call, the phone rang.

“The good news is there is no tumor in Savannah's brain,” Dr. Buffen said.

“Oh, Thank God!” I mumbled, slumping into the nearest chair.

“But,” she went on, “there are some changes in the white matter of Savannah’s brain.”

“What does that mean?” I asked, while shaking my head in adamant denial of whatever she would say.

“I’m not quite sure,” she continued, “but I don’t think there should be any changes. I’ll check with the radiologist and call you back.”

Not too alarmed yet, I really wanted my Mom at that point, so I called her in Australia, telling her the findings. Her always-positive attitude usually made me feel better straight away and sure enough, she pointed out that Savannah was an active little two year old, certainly not a sick one. Like me, she couldn’t imagine there was anything too seriously wrong and encouraged me to not worry and just wait for the doctor’s next call. At mid-afternoon, misplaced hope faded, when the call came in.....

Savannah was engrossed in the TV then, watching “Winnie the Pooh.” I was standing on a chair in the kitchen, scrubbing out the cupboards, trying to keep at least my body occupied, while I awaited the doctor’s next phone call. The telephone rang and I raced to answer it. Dr. Buffen had spoken with the radiologist. What she said next was devastating--worse than even my rampant imagination had come up with.

“This is very, very serious,” she said. “You and your husband need to come in to Los Angeles Children’s Hospital tomorrow, to discuss the findings of Savannah’s MRI.”

I could hear my heart thumping, as I asked her what they’d found. I could hardly breathe, barely got the words out.

“Savannah appears to have some form of leukodystrophy, a genetic condition which affects the white matter of her brain.”

I wrote the word down. Such a foreign and ugly word to have anything to do with our beautiful, precious child! I could hardly pronounce it, let alone spell it. I had the doctor spell it out for me, so I could look it up and not mistake it for anything else. Her next sentence was the worst blow of all.

“In most cases the condition is fatal.”

There was that awful word--“fatal”! I could not comprehend that one. Mind and body were reeling, could not cope with the implications of that word. I kept repeating over and over, that there must have been a mistake. Some mix-up of her test results. By then, I was too afraid to breathe, to think, or speak another word. Anything I said would have to only make things worse, I thought, so better to keep quiet and let the doctor apologize for their mistake. Which of course, it wasn’t.

After I’d said goodbye, my hands were shaking so hard, I almost couldn’t type the ugly “l” word into the computer’s search engine. And, as bad as I already thought things were, I was totally unprepared for what I was about to learn. When I saw what came up, my heart dropped into the pit of my stomach. What I couldn’t avoid reading was that there are at least thirty-seven forms of leukodystrophy. With each line I read, more tears poured out, threatening to drown the keyboard. Savannah was right by my side, still in her flannel jammies, and I stared at her, shaking my head in stubborn disbelief. How could this be happening to our beautiful little girl? It had to be wrong! There had to have been a mistake.

The first form I read about was called MLD--metachromatic leukodystrophy. The entry described how patients would lose all of their physical abilities, one by one, becoming bedridden, unable to speak and eat, with blindness following. Seizures and paralysis would then occur, with death the certain outcome, within three to five years after onset. It was too shocking for me to grasp, but one symptom described was an unsteady gait, which I swear made my heart stop. I didn’t want to believe I’d read that, but deep down I knew that article was describing my little girl and what she’d been doomed to, by some disgustingly unfair fate. At that moment, I knew the doctor was going to be right. I had to call Peter.

My fingers barely working, I tried to phone Peter who was in Atlanta, a half-day’s flight away. Once I heard his voice, my sobbing was unstoppable. I’m sure I was totally incoherent, trying to repeat what the doctor had told me. Peter was speechless. Like me, he was not prepared for such unbearable news.

“We’ll see Dee, maybe it’s a mistake,” he said, trying to believe that.

And so began our journey of hope........................


  1. Unbelievable story, so thoughtfully told. I can't pretend to understand what you went through but I thank you for sharing.


  2. Dear Kim,

    My story is unbelievable...I wish it was someone else's.

    Thank you for stopping by and for your compassion. I enjoyed reading your blog.

    with love
    Diana x

  3. A dear friend of mine's oldest child has just been diagnosed with MLD; we are terribly heart broken. Your story, I'm sure, describes how she has been feeling. I am at a loss at what to do but pray for all of them; I cannot begin to imagine losing a child.

  4. Barbara,

    I'm so terribly sorry for your friend and her child. It saddens me when I hear of another innocent soul being diagnosed with the cruel disease MLD.

    It's heartbreaking to be told your child will lose the ability to speak, eat, walk and do all the things they once's even harder to watch them waste away.

    You've taken the first step in helping your friend through reading about the are obviously a special friend for wanting to help.

    I lost a lot of friends through my journey. My advice would be to offer your love and support and a listening ear. I was fortunate to have a few friends who were there for me and still are.

    It's that support that got me through, even today. Tell you friend to take lots and lots of photos and videos, the disease progresses so quickly.... memories are all I have now.

    Please send your friend my email, if she'd ever like to chat, I'd be honored to help another mum who is where I still feels like yesterday Barbara.

    Thank you for the courage to stop by and leave your comment.

    with love
    Diana x

  5. Hi Diana,
    I just read the beginning of you MLD diagnosis blog. I can totally relate because the exact same thing happened to us. We lost our beautiful 2 year old Abigail, to MLD. First was the eye crossing over and the adorable little glasses. We were so unsuspecting. I'm so sorry to hear this monster disease has claimed another life. I will continue to read your blog and am thinking of writing one myself.

  6. Dear Leslie,

    I'm so sorry to hear you lost your precious little girl Abigail...we share a special bond.

    MLD is such a horrific disease that robs our children of everything they once loved as well as our dreams as parents.

    Thank you for stopping by...I'll have you in my thoughts. I hope you are doing ok, I still miss Savannah and think of her every single day.

    Please let me know if you start blogging, I would love to support you.

    Sending a hug
    Diana x

  7. I am so sorry to hear about this. I have some friends who are going through this now with their 2 year old daughter in USA, Florida. I have been searching for others who have been through this or are going through this so that they may find solace in each other. Please see their story as well... their daughter's name is also Savannah :) If you feel okay about it, I would love for you to contact the news site and get in touch with them. They need all the support they can find and I am sure you would benefit from them as well. :) Prayers to you and your family.