The Threat of Rett

Many of my followers know what Rett syndrome is, but for those who are unfamiliar with the world of Rett, I feel I need to introduce you to this evil monster that has taken over the life of my daughter.

Rett Syndrome is a debilitating disorder which most often affects healthy little girls just after they have learned to walk and say a few words and begins to halt their otherwise normal development.  This usually happens between the ages of one to three.  As Rett syndrome starts to show, girls lose acquired skills, normal movement and speech.  Girls are left unable to communicate or use their hands to hold, carry or manipulate objects.  Over time, girls who have learned to walk often lose that ability as well.  Loss of motor control begins, essentially locking these girls into their own bodies that do not work, leaving them scared and fearful of the unknown.  

Rett syndrome is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay.

Despite all the physical disabilities that affect girls and women living with Rett syndrome, the girls are believed to be functioning mentally at a much higher rate than was ever thought!

Rett syndrome is caused by a single gene mutation (MECP2) that leads to underproduction of an important brain protein.  Rett syndrome is the most severe form of autism.  Rett syndrome is a REVERSIBLE disorder!  Research has proven that once they get the protein levels back to their normal levels, symptoms of Rett subside.

There are many complications that can affect the girls and women living with Rett syndrome and they include:

• Disordered breathing
• Severe digestive problems
• Difficulty eating, chewing and swallowing
• Orthopaedic abnormalities such as  scoliosis and fragile bones
• Disrupted sleep patterns
• Extreme anxiety
• Seizures
• Impaired cardiac and circulatory function
• Parkinson-like tremors
• Repetitive hand movements like hand-wringing/washing
• Sudden and unexplained death

Throughout all the confusion going on in their bodies, they are waiting patiently for us to unlock the door to their recovery.

Researchers at Harvard, Baylor, UVA, Weill Cornell, Emory, Salk Institute, University of Edinburgh and dozens of other top institutions are really getting into Rett Syndrome. They say Rett syndrome is considered a "Rosetta Stone" as a cure for Rett syndrome would also have a direct impact on research on Autism, schizophrenia, bipolar disorder, Alzheimer's and many other disorders.

Rett syndrome may be the Golden Ticket to help millions who are suffering from many disabilities.

"We hope that Rett Syndrome will be one of the first childhood neurological diseases to be cured.  A successful treatment for Rett syndrome could potentially lead the way to treatments for millions of others sufferers of pediatric neurodevelopmental disorders."

--Dr. Omar Khwaja, MD PhD  Medical Director Rett Syndrome Program Children's Hospital Boston

We are very blessed that Anna Cate's mutation of Rett syndrome is mild and she does not suffer from many of the complications that are associated with Rett syndrome.  While many times we talk about what they can't do, I like to focus on what she can do!  

She can walk, run, and jump (especially on the bed and laughs knowing she is doing something she shouldn't).  She does have a growing vocabulary of about 70 words (mind you that she does not use all 70 words every day) and she can make the sound for almost every letter of the alphabet!   While she does have the stereotypical hand-wringing, she can hold her own cup to drink, she can use her own stamper to stamp her name (and approval!) on things, she can color (in her own Picasso style), she can dribble a ball like the next Anne Donovan (yes I had to look up a famous basketball player, as this is not my sport!), she can manipulate her computers to communicate (though at times there is still some frustrations), she can use her hands with no problem to tease just like a typically developing child (loves tug her brothers ears, swipe things off the counter; Swiper, no swiping!), she can use her hands to flip through the pages of her favorite books or magazines, she can use her hands to touch my face softly (or to grab a hold of my nose like she is going to pull it off!) and she can use her hand to hold mine!  

It amazes us that when we want to pull her hands apart it is like prying open an old rusty door that you think is going to break when you finally open it, but when she wants to unlock her hands, it is with ease.

Rett syndrome obviously affects Anna Cate's ability to communicate like a typical nine year old and with this she has behaviors out of extreme frustration and some anxiety issues.  We call her our little Ninja as the moves this child pulls out is very impressive when you think that Apraxia (people with apraxia often cannot perform controlled, purposeful movement, despite having the physical strength and intellectual thought and desire to do so) is a huge problem in girls with Rett syndrome.  We look at her while she is our little Kung Fu Panda and wonder if for the moment the apraxia switch is turned off!  Joking aside, this is the hardest part of Rett syndrome for us and our family.  It is difficult for us to carry out activities on a moments notice for the idea of a sudden transition can cause a behavior.  Or being someplace fun (i.e. the zoo) can be a shortened trip for "the switch with the associated look" gets flipped for an unknown reason (we are constantly trying to figure out why things happen) and we have to leave.  Trying to figure out the sudden "flip of the switch" is an ongoing battle in our house.  When you think you have it figured our she stumps us again.  The lack to communicate is the most frustrating part of Rett syndrome for our family.   We are the parents and adults and can deal with situations like these better than Anna Cate's siblings who just want to live in the moment and don't want their parade rained on!  The quote, "What doesn't kill us, make us stronger", is all I can think about during these times for Betsie and Eli.  They have no idea what it means, but I think they are starting to get the idea.


Another common characteristic that affects Anna Cate is disruptive sleep patterns.  Sleep for Anna Cate lately is like that of a newborn baby.  For her whole life she has had sleep issues, which ultimately lead us to having to lay with her until she falls asleep at night as she doesn't like to do this on her own (and trust me we have tried, but at some point you do just give up).  This was fun when she was younger, but now it would be nice to put all the kids to bed and have some "me" or "us" time like "typical" parents.  Her going to sleep now is 100% better than when she was younger and Wally would drive her around (to the next state it would seem) to get her to fall asleep praying that the transition from the car to the bed would not wake her up!  This was not fun!  Then we tried Melatonin, which works short term, but in the sense that it helps her FALL asleep, but does not KEEP her asleep.  We also tried another medication that many parents praise for their children with Autism or Rett syndrome, but for Anna Cate it was not the right mix.  It didn't help her stay asleep (at this point she hadn't slept a full nights sleep in 4 1/2 months!) and it started affecting her gross motor skills and this Mommy was not going to trade one problem for another!  I will start my own IV drip of caffeine before I will have anything else happen to my angel.  So after much searching on the Internet I found a website, Native Remedies, that is all natural supplements that are to produce the same effects as medication.  We are two weeks into a NATURAL sleep aid and (knock on wood) things are going really well!  Out of a week she is sleeping 4 nights straight through!  Things can only go up from here.  I think we are almost over this mountain.  Now, I need to look into a natural remedy for behaviors.

Life for us with Rett is not about she can not or will not, but she WILL and DOES.  Every second of every day matters and its all about practice.  After all practice makes perfect!

Photographs courtesy of my dear friend of Hough Photography.

These images have been a favorite since the day we met!