The Post I Should Have Written Already - Part 1 of 3



It seems logical to explain here on the blog exactly what Rett Syndrome is, what causes it, and it's typical course for the little girls it haunts.  Yet, for many reasons, this is the hardest post to write.  First, the genetics behind Retts is complicated (at least for my non-scientific mind).  Second, each girl with Rett Sydrome will look different.  They  may or may not follow the "typical" course or exhibit the "typical" symptoms.  And third, I do not like Rett Syndrome.  I don't like talking about everything that may or may not happen to Luisa.  I don't want to write about seizures and autism and gastrointestinal issues.  At least not in the same paragraph I type Luisa's name.

I have a vague memory of being in graduate school for speech pathology and reading about a condition of severe autism that primarily affected girls.  The girls developed normally until the age of 2 then regressed.  I remember thinking, "How horrible."  I remember praying over that condition (literally laying my hands on the textbook) and ALS and Huntington's Disease.  These were the conditions I wanted to keep at a safe distance.  To write the hard facts regarding Rett Syndrome, the severe form of autism I studied in graduate school, is bringing the syndrome home, allowing it to sit in my living room, and facing it for what it is, a cruel thief.  I do not like Rett Syndrome.  No I don't.

But really, I'm being quite selfish.  Luisa doesn't have a choice about Rett Syndrome.  She is already facing many challenges and she wants you to know about them.  To understand her better.  To be concerned.  To give to the research that might someday provide answers and relief.  To pray.  To just be aware.

I will, most likely, be Luisa's voice for many years to come, until we can help her find a voice of her own.  So in this post I will give voice to Rett Syndrome's challenges, Luisa's challenges, hundreds of thousands of girls and their daily battles....

Because there is so much to share, I will split this information into 3 different posts.  As you read, please remember Luisa's face and know she is so much more than these facts.  She is beautiful, strong-willed, loving, and loved....

 

So here it goes.  Here are the facts about Rett Syndrome.

 

The Basics

 

It is a neurodevelopmental disorder, not neurodegenerative as originally thought.  

 

Originally recognized and published by Andreas Rett in 1966 (www.wikipedia.com)  First diagnosis was made in the United States in the early 1980's.  Luisa's Rett Specialist, Dr. Alan Percy was one of the first physicians to diagnose women with Rett Syndrome in the United States

 

Occurs in 1:10,000 female births.  Occurs in all racial and ethnic groups. (www.rettsyndrome.org)

As prevalent as Cystic Fibrosis, ALS, and Huntingtons (www.gp2c.org)
 

Affects primarily girls.  Boys with Rett Syndrome are more severely affected and typically do not live very long.
 

Was previously considered a part of Autism Spectrum Disorders.  Girls can display autistic-like behaviors in the early stages but this improves over time.  Girls with Rett Syndrome are different than many on the autism spectrum in that they prefer people over objects.

50% never walk, 99% never speak (www.olivebeaumontfoundation.co.uk)
 

The Struggles

Apraxia is the monster of Rett Syndrome.  Apraxia is defined as "difficulty with the usually automatic planning done by the brain to execute voluntary movements," (www.rettsyndrome.org).  It is apraxia that steals our girls' ability to walk, speak, and chew normally.  The limbs, eyes, and head can even be affected by apraxia.  Luisa's walking and mouth movements are uncoordinated and groping in manner.  Luisa hates apraxia as she sits on the stair unable to go up.  She wants to go up.  She looks up the stairs purposefully.  She crawls back and forth on the stair and then she screams.  Because she WANTS TO GO UP, not sideways!!!!  She's stuck on the stair, her brain unable to communicate how exactly to initiate the movement of UP.  She screams in frustration.  I stand her up on the stair, push her knee up, then push her behind.  She manages two steps then sits there.  Stuck again, not sure how to keep going.  I stand her up and the cycle begins again, playing on repeat several times a day....

Girls with Rett Sydrome exhibit stereotyped hand movements such as handwashing, hand wringing, clapping, and/or mouthing.  Girls develop their own personal variation of stereotyped hand movements.  These movements appear after girls have lost hand control.  This means little girls who could at one time hold a sippy cup, feed themselves, hold your hand, wave, are now unable to perform even simple tasks such as picking up a block or pushing a large ball.  Then once they lose these skills their hands begin to have a life of their own - moving uncontrollably through-out the day.  Again there is great variability among girls in hand function and hand movements.

Luisa has relatively good hand control at this time and can hold her cup.  She is still able to self-feed and will, at times, even pick up food with a pincer grasp.  Despite these skills, Luisa shows difficulty holding onto things for a long period of time.  She drops her cup, has an inability to hold onto the swing, and will frequently fall off ride on cars because she is not able to hold on properly.  Meals are half in the mouth, half on the floor.  Luisa does exhibit stereotyped movements in that she claps, clasps her hands at midline, and will frequently grab her clothes at mid-line.  This is does not, at this time, interfere with her ability to perform tasks with her hands.  All these pictures?  Her hands?  Rett Syndrome.

Early on girls may exhibit periods of inconsolable crying and/or screaming.  Over time irritability lessons.  (www.rettsyndrome.org)  Right now, our family is powering through Luisa's irritability.  She screams a high pitched screech periodically through out the day.  I believe there is communicative intent behind the scream but she is unable to control her volume and tone.  Our job is to find out why she might be screaming - reflux?  hungry?  thirsty?  wants a nap?  bored? wants to read? car sick?  wants to go upstairs? downstairs? outside? cold? afraid?

Difficulty with autonomic functions of the body.  Girls with Rett Syndrome may experience breathing difficulties including hyperventilation and breath holding.  Many have heart issues.  Heart issues are one of the scariest aspects of Rett Syndrome.  Sudden unexplained death in Rett Syndrome girls may be attributed to heart issues.  Luisa underwent an Electrocardiogram and for now her heart rhythms appear normal.  Purple, cold hands and feet are indication of poor circulation.  Luisa's feet are often the color of pavement and sometimes as dark purple as a grape. 

 

Gastrointestinal issues.  These include severe constipation and reflux.  Luisa recently started to show signs of severe reflux.  At meals she would start choking on food coming back up.  This would cause strong coughing episodes that would then lead to vomiting.  For about a week she was vomiting everyday.  She gained only a half pound over 3 months.  We started her on reflux medication and fortunately, she is gaining weight and no longer vomiting at meals.  As the girls get older constipation is severe and painful.  
 

Anxiety

Severe Scoliosis - We asked Dr. Percy about this characteristic of Rett Syndrome and why it so severely impairs girls with Rett Syndrome.  He said they are unsure why the girls are prone to scoliosis but that girls who are wheel-chair bound are more commonly affected by this curvature of the spine.  Severe scoliosis may require the use of spinal fusion surgery.  This is no small surgery for our girls.
 

 G-tube placement - Many girls (but not all) are G-tube dependent for many different reasons.  Dysphagia, poor vitamin absorption, poor hand control - all of these contribute to the need for g-tube placement in our girls.  

Seizures - The "s" word that keeps parents up at night.  Typically developing as the girls get older and certainly not in every girl, seizures are a game changer.  Seizures and the medications used to treat them are a challenge and well, I just don't want to think about it.

 

I know I am leaving out a host of other difficulties for our girls.  But at some point you have to stop and take a step back.  Take a deep breath and remind yourself, these "symptoms" are not my Luisa.  They may or may not be part of her story.  

Rett Syndrome symptoms not listed above include joy, eyes that light with recognition and intelligence, sweetness and innocence as they lay their head on your shoulder,  smiles - so many smiles, engaging personality, endless capacity to love and be loved, God's workmanship, beauty - so many beautiful girls.

Part 2 of 3 will outline the course of Rett Syndrome, the genetics behind it, and the exciting research that is bringing hope to many families. 

There are days I look at Luisa and find her diagnosis hard to believe.  There are days I get little accomplished, feeling randomly heavy and slow.  Then there are days like this week, when I've been able to make a meal calendar for the first time in 5 months, organize the attic for a garage sale, dance a little, and pray more often. 

 

For I am the Lord your God

who takes hold of your right hand

and says to you Do not fear;

I will help you.

Isaiah 41:13