Quest for a Cure 2013!!!

We're walking again to CURE Rett Syndrome!!!  Come on out and join Annie's A-Team on Sunday, Oct. 6 , 10am at the beautiful Inglenook Park in Southfield!  For those who haven't joined us in past years here's what you can expect - a TON of food, a short 1K walk, an amazing raffle with loads of prizes, a silent auction, a Grand Prize (previous years it's been an iPad, this year's prize is TBA), a clown for the kids, balloon animals, face painting, pumpkin decorating, and did we mention a TON of food???  It's a great morning and don't worry it won't take up your entire Sunday,  just a couple hours to show your support for our little hero Annie!!!  If you can't make it, you can always support Annie's A-Team by donating online HERE and read below for more information about the research that has the potential to CURE Rett Syndrome at the genetic level, this is what we will be funding this year.  

All donations will go to Ben Philpot, a researcher at the University of North Carolina at Chapel Hill, and his project to activate the silent MECP2 gene in Rett Syndrome.  All girls with Rett Syndrome have 2 copies of MECP2 on each cell, a healthy copy and a Rett Syndrome copy.  Dr. Philpot is screening drugs to “turn on” the healthy MECP2 gene, curing Rett Syndrome at the genetic level.  $156,000 is needed by December 2013 to fund this project.

Why Ben Philpot?  Ben Philpot’s lab will screen for compounds that can reactivate the silent (healthy) MECP2 gene already in a girl with Rett.  MECP2 has proved to be very complex, with this approach we don’t need to understand what MECP2 is responsible for we just need to turn it on.  Ben has been successful in finding a drug to activate the silent copy of the gene responsible for Angelman’s Syndrome.  Because he is familiar with this type of research and has been successful in the past we are very hopeful that his, now streamlined, approach will move faster, be more efficient and has promise of being successful in curing Annie, all girls currently suffering with Rett and the 16 girls that continue to get diagnosed every day. To watch a video about this research please visit:

http://www.youtube.com/watch?v=UWRQRVfGwyE&feature=share&list=PLzLcLe4bAUoLje1eG_CgTHnA4R3t-j6Kx

Rett Syndrome:  Is a spontaneous, genetic neurological disorder that affects girls almost exclusively.  Annie was born healthy, grew and developed normally until about 12 months old when she suddenly regressed, loosing all hand function, ability to ambulate and every word she spoke. Girls with Rett remain cognitively age appropriate, however become trapped in bodies that are no longer able to function properly, they require 24 hour care for the rest of their lives.  Rett Syndrome has the symptoms of autism, cerebral palsy, Parkinson’s, epilepsy, and anxiety disorder all in 1 little girl. 

Hope:  Since it’s discovery in the early 1980’s the research in Rett has brought hope.  In 1999 Dr. Zohgbi discovered the gene that causes Rett, MECP2.  The fact that we have a gene, a single gene makes research into a cure easier.  In 2007 Dr. Bird’s lab reversed Rett Syndrome in a mouse model.  This proof of principle experiment shows that if/when MECP2 is restored symptoms of Rett Syndrome reverse, essentially curing the disease. 

Thank you for making a difference in the lives of these precious girls!

Healing Her Bones. Rett Syndrome and Osteoporosis

So ever since we got the diagnosis of Rett Syndrome 7 years ago I have been obsessed  concerned with Annie's bones.  I knew a sweet girl when I was going through junior high school that had Rett Syndrome (yes, I know, God's foreshadowing is astounding).  I remember how beautiful she was, in her chair, coming down the hallway, always with a smile, she had beautiful  hair and always the cutest clothes.  But I also saw how fragile she was, how thin and how....... fragile.

I've talked about Annie's bones before.  We have had Annie on bone supplements since she was diagnosed.  We've known girls with Rett Syndrome who have broken bones just transferring from the wheelchair and I was so determined to not allow that to happen to my Annie.

When Annie was about 2 years old she started to have some pretty severe digestive issues.  We put her on a GFCF (gluten free, casein free) diet.  Hoping that it would help with her digestive issues and cause her to gain some weight but it didn't.  She was loosing weight and was so tiny to begin with.  We actually started seeing a GI specialist and told him that we needed a g-tube.  He, of course, agreed.  It was the best thing we ever did for sweet Annie, she began to grow and thrive and was so much healthier than we could have ever imagined.

After the G-tube we tried to introduce some dairy back into our sweet girls diet but we found that she was incredibly sensitive to it.  She was able to tolerate cheese and ice cream but anything beyond that, milk or yogurt, she would throw right up.

Of course I continued to worry about her bones and upped her bone supplements.  We had annual blood draws that showed us that Annie's vitamin D level was normal.  That was great but Mothers instinct, I wasn't convinced so I started asking for Dexa Scans - which are bone scans that can detect osteoporosis.  Yep - found it!  Annie failed her first Dexa Scan and was diagnosed with osteopenia when she was just 5 years old.

We were told that Annie had osteopenia because she couldn't walk.  We were told to get her up on her feet at much as we could, weight bearing exercises build bones.  I wasn't convinced that this was only reason for the fragile bones.  We get Annie onto her feet as much as we could each day, usually for several hours, and she was still having issues.  I knew that this was an issue with malabsorption.

I started doing more research but came up empty.  I couldn't find the reason for her bones to be so brittle and it was so frustrating.  As the years and months ticked by Annie's Vitamin D levels started to climb, so much so that we need to decrease her Vitamin D supplements.  As we decreased her supplements her vitamin D levels continued to climb and her bones continued to deteriorate at a very alarming rate.

I talked to every specialist that we were with and made appointments with additional specialists.  I couldn't figure this out and neither could they.  I was told by some specialists to ignore it, by other that they didn't know what to do and others who had ideas of putting Annie on medications that would increase bone density but they were contraindicated for children and the side effects were bad.

I knew in my heart that her problem was she was not absorbing these nutrients, we were giving her enough calcium and vitamin D and vitamin K and Boron and magnesium and all the other vitamins and minerals that are essential to bone growth she just wasn't absorbing them.

I continued to search and research until one day an article came into my inbox.  The bottom line – vitamin K is the ‘key’ that unlocks the door from your bloodstream to let calcium flow into your bones and bone marrow.*  (mercola.com) Purely Godsent.  As I read through this article I learned that there were 3 forms of Vitamin K, K1, K2 and K3.  I was giving Annie vitamin K but not  K2!  So, we ended up taking her off all of her supplements, her blood levels were very high in vitamin D and her serum calcium was starting to rise so we had no choice.  We started Vitamin K2 (from Mercola.com) right before Christmas and by March our Vitamin D levels had plummeted from 91 to 60!   The Vitamin D sitting in her blood stream was now able to enter her bones!

We waited another month and decided to do another Dexa Scan.  Our results - not a continued decrease in bone density, like we had seen in years past, and not even a same Z-score as the year before but actually an improvement in Annie's bone density!!  Yes, you read that right, an improvement!!!

This momma is overjoyed!  Since then we have started a Vitamin D supplement again and Annie's serum Vitamin D levels are still within normal limits which means that her sweet little body was starved for Vitamin D but it had no way of entering her bones without the Vitamin K2.  Now that we have the K2 we are able to supplement with additional vitamins and minerals and will hopefully continue to turn this osteoporosis around until we have bones that are as strong as the typical 8 year old that she deserves to be.  Annie's Spine and Femur's are still pretty brittle so we are VERY cautious about breaking her hip.  I'm hoping that these 2 areas of her body just need a little more time and nutrients to build up their strength.

*Disclaimer:  Vitamin K2 worked for Annie but it may not be for every Rett Girl or child with osteoporosis.  Please check with your child's doctor before starting any vitamins or supplements.

Shattered, for a purpose

I have this water pitcher in my dining room.  People have asked me about it, not because it's such a beautiful piece but becasuse it's been completely shattered and then hot glue gunned back together.  Look at the pic below, I'm not talking just a missing piece but seriously, completely broken and then glued back together.

Of course the idea is not my own (I'm not that clever) but from a book by Angie Smith (who is just genious!) called Mended.  In this book Angie explains that her purpose for being "broken" by the things in her life are so that Jesus could shine through her life - thus the broken pitcher allowing light to shine through the cracks.  

This image hit me so hard that I just HAD to experience it for myself and so I went out, bought a VERY cheap pitcher (honestly, it was $3.50 on clearance because it already had a crack, Talk about irony.)

I spent an entire night smashing it and then glueing the whole thing back together (not an easy feat when you get to the small parts).  It was tedious but incredibly therapeutic.  It hasn't taken away all of my anger and saddness about what has happened to our family but I can say that it has put things in perspective and it is always there, sitting in our dining room as a consant reminder of what our family has been through and, more importantly, why.  

People see that pitcher and ask about it, I haven't really come up with a great answer yet, I have just said "it's a symbol of my life" but that explination doesn't do it justice because people say "Awww, I'm so sorry that your life feels like that".  They don't get it, I didn't explain it right.  

What this really shows is that my life was a complete pursuit of my own.  My own wealth, my own happiness, my own dreams, my own vision of life.  Somewhere, in my own pursuit of desperatly trying to create all of these dreams for myself God stepped in and smashed it all.  He opened my eyes to a marriage that was very one sided, parenthood that was full of false ideals, my image of how life is "supposed to be" and the so called solid rock that I stood on was nothing but sifting sand.   

God showed me, what really mattered.  I couldn't be more blessed that He stepped in when He did.  Each and every time He shattered my life He did it so that His light could shine through me.  Maybe not right away, but through the anger, the sadness and the tears all those pieces were picked up and glued back together and the cracks and spaces allowed His light to shine through.  What God breaks He puts back together stronger than it was before.  

By shattering my life with Rett Syndrome, my marriage has become stronger.  We no longer have false expectations of eachother.  I have come to an understand that my husband is not in charge of my soul happiness.  His and my own emotions of course will steer our family in certain directions but despite the difficulties and hardships that will come to us we choose to see that any hits to our family are not set backs but are additional chips and cracks in our pitcher.  My relationships have gotten stronger, my eyes are opened to what really matters now.  Could it be that each and every lesson that God wants us to learn comes to us in a form of brokenness?  These cracks and holes and even the shatters are part of how He is trying to use us.

A few weeks ago our church had a speaker that moved me even further on in my walk towards brokenness.  The message is below and I encourage you to listen to the whole thing through.  

I realize this message is intended to make those who are ready, able and called to MOVE into what God has called them to do, but for me, I believe it was a confirmation in my own walk, my own life and my own struggles that God is using my life and my family for His purpose.  

I live in a place where I see people struggle all the time.  It breaks my heart when I see a real struggle - a family who realizes they have a child with Rett Syndrome - a child they thought was perfect and whole and then to come to the reality that they will have to care for every single need of this child for the rest of their life.  A friend who's husband has gone into cardiac arrest and they worry about their families well being and future.  Other families break apart in divorce, the moms are now called to be both the father and the mother.  Cancer diagnosis, infertility, the death of loved ones and the list goes on.

When we open ourselves up to the world, when we make ourselves vulnerable to what is around us,  it's amazing what we see. There is so much desperation and sadness in our world.  When you flip on the news or check your inbox or even just turn on the radio you are sure to be hit with a bunch of depressing, sad news.  Life is sad, it's not fair, and there are always negative things to dwell on.

We have a choice to walk through this world as broken pieces laying around or we can choose to use our faith as the glue that puts our pitcher back together.  You can see those who choose the broken pieces, those who choose to complain about their circumstances, those who allow even simple misunderstanding to destroy their marriage or common colds to rock their lives.  And the mended pitchers who deal with far worse circumstances but hang onto hope and forever have their heads held high in Gods grace.

The choice is ours.  We can strive to live that perfect, easy, comfortable life.  Daily chasing after the bigger house, the nicer car, the larger income, the designer bag.  Or we can choose to trust in the one who made us.  The one who allows for heartaches so we can show His love.  The One that brings the rain because that's the only way we will see the flowers.  The One who is using us because He knows this life is just a fleeting moment and our real treasures are waiting for us in heaven.

Of course when the rains hit there is a time of sorrow, of adjustment, of questioning but to be able to pick yourself up and be used is what this life is all about.  Even with the struggles, this life is so much more than we deserve.  I'm trying to get to a consistent place where I am no longer chasing after anything in this world,  where I'm not trying to fix everything to make my life perfect, I want to get to a place where when life gets too easy I wonder, "Has God decided not to use me anymore"?  A place where I embrace the hardships because I know that they are there for His purpose.  

“Life can only be understood backwards; but it must be lived forwards.” - Soren Kierkegaard

I'm Worn

Most of the people reading this blog are momma's.  Some to typical kiddos and some to special ones but regardless we can all relate to the feeling of being worn.  Just so physically and mentally spent that you can't even think straight.

So a couple weeks ago we were hit pretty hard with some big life changes.  These changes included the realization that we would be loosing several amazing people in our support network.  I want to cry just writing those words.  Life with Rett Syndrome is hard, very hard.  Hard for our family but, more critically, hard for Annie.  We have been so blessed that in the past 7 years we have been able to find and build a wonderful support system for her.  We've had people come and go but over the years we've come to understand and know who was in this WITH us and who was doing their "job".  Regardless of weather the person is with us for 1 month or several years it's a feeling you get when you know you can place your heart in someone elses hands.  Today, I'm heartbroken to say that 3 of our supports that were WITH us in this journey will be changing their positions in our lives.  2 will be moving on to some amazing opportunities and life changes that we are so happy to see them enter into.  and 1 we are leaving her because of an opportunity of our own that has come to fruition.  Regardless of the circumstances the fact remains that this is change.  Scary change.  Change from a support system we have come to know, love and rely on.... to the unknown.  I don't do well with change.  I like comfortable but that's not always in my control, infact, that's never in my control.

Dealing with this change, other huge issues have also come up that threaten our family.  It's something we have known about for a little while but it's another worry, another stress.  An opportunity that we have been anticipating for several years has also come up.  I thought we would be thrilled because this is what we have been waiting for but unfortunatly it has brought up more questions than answers and has left me wondering weather we are doing the right thing for our family and in the eyes of God.  This opportunity has also come with tons of paperwork and reexplaining all that Rett Syndrome has taken from Annie, all that she goes through and how our family has been effected.  I've read, heard and spoken words that make me shake with fear, anger and saddness because it was never supposed to be this way and it shouldn't be this hard.  7 year old wounds that are still fresh are once again ripped open.  I'm trying to find my footing in all of this but it's hard.  It's so much.  All at once.  My body has felt the pressure and just to add to all of this I came down with a sinus infection that has shown no mercy.

I have been hearing this song on the radio lately, Worn by Tenth Avenue North,  but it wasn't until all of this that I took these words to heart:

As I process all of this I'm realizing that despite our fears we are in good hands.  God knows what we need.  He is faithful but we need to walk by faith even when we can't see what's ahead for us. I also firmly believe that when God makes changes they are for the better.  We've been through the fire before and we always come out a little worn but also a little better and a little stronger.  We don't know what's in store but I'm certain it's all part of a great plan.  Maybe this is just another step closer to our cure.  Maybe our supports are changing because we won't need supports much longer and these amazing people that have been with us will see the miracle and be forever changed.

My prayer:  you have seen us through so much change and this change always comes from you.  You give and you take away.  You know what we need and you will supply us.  You have brought amazing people into our lives, however, people are always changing and YOU are constant.  Help us to keep our eyes fixed on You.  

Little Celebrity!

 On December 22 there was a beautiful little angel face that graced the cover of the Detroit News.  That was my Annie!

I'm not quite sure how I managed to finagle my way onto the cover as well but there I am too.  The HERO of this story is Brian Dalton!  Brain has been helping us raise funds for Rett Syndrome for 3 years now, however, this year he's going well above and beyond and competing in the Escape from Alcatraz  triathlon.

Brian says "As far as as triathlons go, it doesn't get any bigger or more challenging that the Escape From Alcatraz race. The race is also symbolic of how the girls are in essence a prisoner in their own bodies. Their minds are free, but their bodies are broken. So, to help out, I'm going to put myself and my body through one of the most challenging races I could find."  

You can read our blog post about how Brian and his students have touched our lives HERE.

You can also read the Detroit News Article HERE.

To make a donation and help Brain reach his goal please check out the right side of this blog Titled "Escape From Alcatraz" it will take you right to Brain's razoo site where you can make a donation.  

A huge thank you to Brian for all that you are continuing to do for our sweet Annie, and to the Detroit News and Shawn Lewis (author) for seeing worth in this wonderful story, for publishing it, and for putting us on the front page for all to read!  

A Hero!

3 years ago at Caribou Coffee in Rochester a man named Brian Dalton walked in, ordered a coffee and happened to see a Girl Power 2 Cure flower.  My mom had gone to several coffee shops earlier that month and set up Garden's of Hope.  We had hoped to raise a decent amount of money with this quick and easy fundraiser but we were about to be pleasantly surprised.  

Brian was intrigued when he read about Rett Syndrome and the Girl Power 2 Cure organization, it was good timing considering his 8th grade class was looking for an organization to benefit from a fundraiser they were doing at our local Barnes and Nobel Book Store.  

Brian emailed Ingrid Harding (founder of Girl Power 2 Cure) and Ingrid got us in contact with Brian.  A few months later Annie and I were welcomed into Brian's 8th grade class and were completely blown away with the amount of kindness, support and love we were shown.  The classroom was decked out in Girl Power flowers, even the kids faces were tattooed with flowers.  Annie was given gifts and then we watched the most beautiful, heartwarming video that several of the kids made about Annie and her fight with Rett.  We were blessed!

The kids each made projects that they displayed at Barnes and Nobel Bookstore a few weeks later.  During the time that they were displayed the community was invited to come in, hear the kids present their projects and then 20% of all proceeds that night were given to Girl Power 2 Cure.  

That was 3 years ago, this event has become annual.  The kids do more and more each year and raise more and more money.  Last year Brian was able to bring in Fox 2 News and we were able to tell thousands about our little known disease, Rett Syndrome.  
Eight graders raising money for Rett Syndrome research - Fox 2 News Headlines

As if all this wasn't enough Brian has blown us away again.  This year he is not only continuing the Barnes and Nobel tradition but he is taking it a step further and competing in the Escape from Alcatraz  triathlon.  

Brian says "As far as as triathlons go, it doesn't get any bigger or more challenging that the Escape From Alcatraz race. The race is also symbolic of how the girls are in essence a prisoner in their own bodies. Their minds are free, but their bodies are broken. So, to help out, I'm going to put myself and my body through one of the most challenging races I could find."  

Here is the explination of the triathlon:  "The 2013 Escape from Alcatraz Triathlon features a 1.5-mile swim through frigid waters from Alcatraz Island to the shores of the St. Francis Yacht Club, a grueling 18-mile bike ride, and a demanding 8-mile run through the trails of the Golden Gate Recreational Area. Set against the natural beauty of San Francisco, this thrilling triathlon is a virtual postcard of the City by the Bay."  YIKES!  

To think that just 3 years ago Brian didn't know anything about Annie or Rett Syndrome and today he was working selflessly to help fund a cure is such a blessing.  Brian is a full time teacher and has 4 children of his own and still found the time to help our cause.  What an inspiration he is to his family and his students and a Hero to our girls suffering from Rett Syndrome!  

Will you help our hero and support him as he sacrifices so much for Annie and all the girls suffering with Rett Syndrome?  Make a donation HERE and leave a message to let Brian know what an inspiration he is!

  

Quest for a Cure Update!

Many of you came out and walked with us at our 3rd Annual Quest for a Cure!  Thank you thank you so much to Annie's A-Team and to everyone who donated.  I'm thrilled to tell you that we raised over $32,000 for Rett Research!!!  That pushed us to over $100,000 total raised in the past 3 years!  

 I just want everyone to know how important this is.  Rett Syndrome is a rare disease and is fairly "new".  We get a very small amount of government funding and that is only for basic research, not the kind of cutting edge research we need to CURE diseases.

 Rett research has made amazing advances in the past few years - 1999 the discovery of the gene that causes Rett Syndrome (MECP2), 2007 the REVERSAL of symptoms in a rett mouse model, 2012 bone marrow transplant arrests sypmptoms of Rett Syndrome.  Researchers believe that Rett Syndrome IS cureable in our children, however, funding research is expensive.  The science is there but the funding is not.  Money is holding us back from finding our cure and that is not acceptable.

 We choose to fundraise for the Rett Syndrome Research Trust because they are fiscal very lean.  96% of your donation goes directly to research.  When you donate you are not paying someones salary or the light bill you are infact making an immediate difference in Annie's life and the lives of the girls pictured below.  For that we are truly greatfull!