Rett Syndrome Research

Some people may look at our situation and wonder why we try so hard to raise funds for research.  They may wonder why we don't accept that we have a child who needs 24 hour care and will need 24 hour care for the rest of her life.  They may wonder why we don't just sit back, and learn how to deal with the hand we've been dealt.  The reason is because we don't believe that Annie will always have Rett Syndrome, at least not in the form she has it now.  The truth is we don't know what the future holds but we remain hopeful that Annie's quality of life will be leaps and bounds better than it is today.  The reason we remain hopeful is because we believe in a God that heals and we believe He IS curing Rett Syndrome through Science.  Of course we have faith, however, we also have facts to back up that belief.  If you aren't familiar with Rett Syndrome and what it does to a child please read Annie's Story, then come back and take a look at what has happened with Rett in such a short time (to watch the video's please pause the music at the bottom of the page):  

1954:  Dr. Andreas Rett, a pediatrician in Vienna, Austria, first noticed 2 girls as they sat in his waiting room with their mothers.  He observed these children making the same repetitive hand-washing motions.  Curious he compared their clinical and developmental histories and discovered that they were very similar.  

1960: Dr. Bengt Hagberg, a physician in Sweden, noticed similar symptoms in some of his female patients.  He collected records but then put them aside intending to return to them when he had more time. 

1983: An article on Rett appeared in the mainstream, English- language journal, Annals of Neurology.  Written by Dr. Hagberg.  Authors of the article named the disease after the Austrian pediatrician that first noticed it,  Rett Syndrome was theoretically born.  Investigators took notice and research began.   

1999:  Dr. Huda Zohgbi after a 16 year search, identified mutations in the MECP2 gene as the cause of Rett Syndrome.  

Lets stop there because this is HUGE!!!  There are so many diseases that have been around much much longer than Rett and there is no specific genetic link found yet - autism, Alzheimer's, and Parkinson's to name just a few.  Not only that but a SINGLE gene causing disease makes Rett Syndrome much more scientifically tangible - WOW, we've got something here, we've got some hope.  Not only did parents get excited but the scientific community did as well.  

February 8, 2007:  Dr. Adrian Bird successfully REVERSED the symptoms of Rett Syndrome in a mouse model.  

Yes, you read that correctly, Rett Syndrome has been reversed in the lab.  This was a proof of principle experiment that gave hope to all families already living with Rett.  What it did was show that if we can put back the MECP2 that our Rett children lack then we can essentially reverse the disease in children already affected by Rett.  The science shifted from trying to prevent this disease from happening to trying to cure the children already affected.  
You can hear Dr. Bird discuss his findings here:  
Prof. Adrian Bird Comments on Rett Syndrome Reversal from RSRT on Vimeo.

You can also see the mouse model before the reversal:  
Rett Syndrome mouse model before reversal from RSRT on Vimeo.

and after:  
Rett Syndrome mouse model after reversal from RSRT on Vimeo.

Exciting right?  When Scott and I read about the reversal on Feb. 8, 2007 we were elated.  It was just 9 months prior that we had heard Rett Syndrome for the first time with our daughters diagnosis.  We researched all about this horrid disease that snuck into our family and were crushed with what we found - a relentless monster that took seemingly healthy little girls and caused them to regress taking away speech, hand function and all ability to move on their own, with medical symptoms from uncontrollable seizures to difficulty breathing.  We read on in horror about all that these girls  would experience and were faced with unimaginable pain, grief and anger.  We couldn't understand with all the complications how someone could actually remain alive.  Nightmares about planning a funeral for our then 16 month old baby began.  But in February our hopes soared and rather than continuing on our dismal path we began to see that there was light and if all our child needed was a little gene to bring her back to us well then we would spend our lives trying to get that for her.  

Since then our family has been on a mission to save Annie and all the girls and women (and the rare miraculous boys) that live battling Rett.  We have swallowed our prides more times than we can count and thankfully have an amazing support system that has been with us every step of the way.  Since 2007 we have understood that the Science is there to help these children but the funding is not.  That's unacceptable.  We will NOT allow money to stand in the way of our daughter having the best life possible.  

Science has marched forward with Rett Syndrome and we are now in some very exciting times.

On March 18, 2012 Dr. Jonathon Kipnis's lab reported that a bone marrow transplant arrested the symptoms of Rett Syndrome in a mouse model.  Another unexpected breakthrough that brings us even closer to beating Rett.  Thousands of parents are now waiting anxiously to discover if a bone marrow transplant will REVERSE the symptoms of Rett Syndrome in a mouse model - research is currently underway.  
You can watch the animation of that experiment here:
Animation of Kipnis Nature paper from RSRT on Vimeo.

A cure or treatment for Annie is within reach, we believe in the next 5 years we will see more and more of our precious girl that was so abruptly locked away over 7 years ago.  Our job as her parents are to keep her as healthy and strong as possible until that time comes and continue to raise the funds needed to unlock her.  

Our efforts are focused on 1 organization, the Rett Syndrome Research Trust (RSRT), for several reasons.  

#1.  96% of every single dollar goes to research - every dollar is carefully allocated, not to pay salaries but rather to continue to push research forward.
#2.  Their leadership board including Monica Coenraads, Dr. Adrian Bird, Dr. Huda Zohgbi and a host of other amazing people including many who are responsible for bringing Rett Syndrome where it is today.
#3. RSRT is a global organization, with alliances all over the world supporting their work.
#4. They're just doing it right:  
RSRT is doing "it" the right way..... from RSRT on Vimeo.


You can help make Rett Syndrome the FIRST reversible brain disorder by donating HERE

or leave a comment below for information on how to get involved with funding our cure!

Please continue to pray for our Researchers, that God would guide their thoughts and hands to bring us the cure we know He has waiting.  And for our suffering girls, that God would give them peace and strength as they continue to battle day after day.  And finally for their parents that God would guide them as they care for their fragile children and give them the strength and perseverance to get up each day and fight for their girls.