Fear and Hope - Part 2 of 3

Today is a difficult post.  Difficult because there are no hard absolutes in predicting how Rett Syndrome will progress in each girl.   Difficult in that research and genetic discoveries are ongoing, always changing the way we look at and treat Rett Syndrome.  Difficult because this post highlights two emotions at opposite poles: hope and fear. 

The Course (the fear)

Historically, scientists used 4 stages to describe the course of Rett Syndrome. This staging is now considered out of date and Dr. Percy (our Rett Specialist) encouraged us not to dwell on "staging." Girls progress through this disease in very different ways. 

The general course includes typical development with no signs of anything wrong for the first 6 months of life.  Our Luisa developed typically until around 12 months of age. She crawled a little late and before crawling on all fours, she rolled around the house. I found this odd and perhaps concerning.  It was at 16 months when she was not pulling to stand that red flags started waving and I called Early Intervention for assessment.

 Next the girls go through a period of stagnation in development. Luisa definitely stopped meeting developmental milestones around 14 months of age. It was as if she was stuck. During this time girls will often go through a period of withdrawl and will display autistic-like characteristics. Luisa withdrew from us in the Spring. Although she maintained eye contact and social smiling, she no longer wanted to be held and did not seek out reciprocal activities such as reading together. I am so very very thankful this has passed for Luisa. I am thankful God has granted us a sweet, mutual relationship over the last 5 months. 

The "fear" mentioned in the title?  The next stage is Regression.  Just the word makes one fearful.  I am learning, though, that there are no absolutes in this disease and while one girl may have a dramatic regression stage, another will lose skills in only one area while continuing to make small gains in another area.  The regression stage can be sudden or gradual. Girls may lose previously acquired skills, such as talking, vocalizations, crawling, and/or walking. During this stage a girl's hand function and fine motor skills decline and stereotyped hand movements begin.  Regression can occur at any point or over a course of time until they are 3 1/2 years old.  At or around this age, girls plateau.  This plateau will last a number of years -- for many girls most of their lives. During this time girls may learn back previously lost skills or may learn new skills. Later in life, girls go through a period of motor deterioration where scoliosis might take over and many girls who could previously walk lose that ability. During this last stage cognitive, social, and communication skills do not decline.

Again, it is hard to say how Luisa will progress through these "stages." We've met girls who when toddlers, could walk and run then woke up one day and could no longer stand up.  Then there are girls who never learn to walk, and girls who learn as late as eight years of age.  Many girls seem to have an "overnight" loss of hand function, while others lose these skills gradually over time. One mother of an older girl with Rett Syndrome said her daughter never went through a clear regression. Her daughter showed global developmental delays as an infant/toddler but has made slow gains over the years. This last scenario seems easier on the heart and is currently my prayer for Luisa.  Common among all girls is lack of speech.  Very few retain the ability to communicate verbally.

     

As for Luisa, we can pinpoint stagnation and withdrawal last Spring. She definitely has shown regression in her speech skills as she once said 10-12 words, and now has 3 - momma, bunny, and baby. No sweeter words have ever been spoken by a little girl. I love these three words. Occasionally Luisa will say "Daddy."  I've never seen Tony jump so quickly.  

A few weeks ago we noticed some decline in Luisa's gross motor skills. She became uncoordinated in her assisted walking, and when sitting up she sometimes had to brace herself to keep from falling over.  She no longer climbed up the whole flight of stairs. This lasted for about two weeks until last week when her coordination and weight bearing improved during walking tasks.  I try to breathe normally and remember that just because she is having an "off" week doesn't mean she's about to lose everything. For several weeks we were forced to used a walker during physical therapy.  Last week we were back to minimally assisted walking.  Many describe Rett Syndrome as a rollercoaster.  Yes.  Yes, that is a good description.

The Genetics

I will not attempt to explain the genetics.  Instead here is a readable article that gives a brief overview of Rett genetics:

Rett Syndrome:  Why Girls?

The short answer to, "Is Rett Syndrome genetic?" - YES because there is a mutation on the MECP-2 gene that then leads to Rett Syndrome. "Does Rett Syndrome run in families?" Not usually. The majority of cases are spontaneous mutations that can occur in any family at any time. As sited in the article linked above, Rett Syndrome is "genetic roulette." 

In rare instances the mother and father can be carriers of the mutation and in that case there is genetic pre-disposition to having a child with Rett Syndrome.  This is only the case in a minority of families.

The Research (the hope)

Since discovering that MECP-2 mutations cause Rett Syndrome, scientists have replicated this syndrome in mice. Then after many a Gala, Lemonade Stand, and Strollathon and along with research grants, and generous "gifts," brilliant scientists developed a drug with one goal - Reversing Rett Syndrome.

After being injected with this "miracle" drug, medical mice no longer sat for hours and wrung their hands.  They learned to walk normally.  They appeared less anxious. Oh wonderful scientists!!! 

There are several drugs and therapies in the human phase of trial.  Older girls with Rett Syndrome are boarding planes with their families and flying to centers in cities like Boston and Houston to be given either a placebo or an experimental drug.  To undergo tests and blood samples and shots.  How brave.  What hope these families bring to the rest of us!

Want to see video of the mice before and after this "miracle" drug?  Want to read about several advances in Rett Syndrome research?  Click the link below and scroll down. 

Mice, Videos, and Research

An experienced Rett Syndrome mother recently told me that in today's world a Rett Syndrome diagnosis is devastating for a family but someday a mother and father will breath a sigh of relief when their daughter is diagnosed.  Rett Syndrome?  Oh, OK!   There's a cure for that.  Hope.  Hope.  Hope....

******

Recently I told Tony that I was in denial.  Denial about Rett Syndrome's "typical course," (a misnomer really because the course is anything but typical).  I want to believe Luisa will not lose anymore hard-won skills.  She stands up and climbs stairs and says "Momma!" and grabs my hand on which to plant one of her own unique kisses.  She laughs.  She crawls over, reaches up for her bunny, and pulls it out of her bed.  She can hold her cup.  She does these things and my heart soars.  And I feel blessed and happy and hopeful. 

But for Luisa's tomorrow, these things are not guaranteed.

Rett parents and other special needs parents face everyday a fundamental truth mothers and fathers deny about their healthy and typically developing children (I deny about Sophia and Vincent).  We have no control over our child's tomorrow.  Their health.  Their behavior.  Their choices.  Really we have no control.  Influence, yes.  Control, no.  Downer?  Well maybe.  Truth.  Most definitely.

So I think I will give Luisa's tomorrow to Him.  Sophia's tomorrow.  Vincent's tomorrow. And if the grief should hit hard and Luisa should lose much I will trust Him with the why.  It is not my burden to bear.  And I will say, through clenched teeth and stubbornness "He is good."  He is good.  He IS good.  Give me the strength to say it God.  You are good.  You ARE good.

This is truth:

Many, O Lord my God, are the wonders You have done.... too many to declare!

Psalm 40:5

Yes.  Too many to declare!  But here are two.  They are wonders.  And He is good....

*******

Oh Lord give us peace in this Rett Syndrome "course," and hope for the "cure,"  And please, a miracle.  A miracle for our girls. 

If you are a "fix it" kinda person, a "let's do something about it," kinda person then you will like the last post in this series, Part 3 of 3...