How is Luisa?

I brace myself for the question, a literal bracing or stiffening in my body, "How is Luisa?"  How touched I am that people ask.  How sad, upsetting it would be if they didn't.  And yet, it's the hardest question to answer.  Do I stay positive, sharing the answers to prayers, the walking, the increased stability?  How she can now stand up in the middle of the room, bend over and pick up her duck?  Or do I mention her struggles  - that she falls often, runs into things, and is constantly trying to maintain balance - and seem like a downer?  What about those aspects of what's happening to her body that I don't understand, are they just a passing phase not worth mentioning?  Her progress, her "regression," it varies week to week, so nothing I report about our little girl feels definitive.  Next week her increased stability is traded for falling over in the middle of the floor and ataxic walking (much like a person under the influence of alcohol).  And then the next day she's back to herself.  And always I wonder, what will it be when this "regression" is over - walking or not, hand use or not, continued sensory processing issues or not, irritability and anxiety or not?

Since so many people ask from sincere hearts, since so many ask because they really want to know, they really do pray for our little girl - I think I will share with you how Luisa is doing today.  And in the process I will share with you a bit of how our family is coping/dealing.

1.  Speech - We are technically still in the regression stage and will be until Luisa is 3 or 3 1/2.  This regression stage has many challenges:  behavior challenges (see below) and the loss of skills.  So far, Luisa appears to be losing skills slowly, hardly noticeable until you look back at old pictures and videos.  Most pronounced and most noticeable though is Luisa's loss of speech.  The day after she was diagnosed, July 4, 2014, I wrote down all the words she was saying, they numbered 12.  Today she is no longer using any meaningful words.  "Momma" is gone.  I'm not sure when it left but I haven't heard it in months.  She frequently puts her lips together to say "baby," but no sound comes out.  The silence aches our hearts but I'm not giving up hope.  Everyday we work on imitating.  On the changing table I say, "Mama, mama, mama, baby, baby, baby."  Luisa studies my mouth intently and will imitate with her sweet lips. Sometimes Luisa's speech therapists and ABA therapist will ask Luisa to talk.  Usually we are asking her to look at her loaner eye gaze device or choose a picture.  In response to our requests she looks at our eyes and begins to move her mouth, popping her lips open and closed, looking at us as if we understand.  No sound comes  out.  It is sweet and heartbreaking all at once.

My prayer for Luisa is that we can find a way for her to communicate her wants, needs, and opinions.  Luisa was tested for an augmentative communication device that will use her eye gaze paired with pictures to communicate.  Basically the computer screen contains buttons of pictures representing people, objects, actions, feelings, and social phrases.  Luisa looks at the picture that communicates what she is thinking, the computer tracks her eye gaze, and once she has gazed intentionally at the picture for a set amount of time the computer will say aloud what the picture represents.  In the words of the speech therapist that tested Luisa for this device, "she blew the test out of the water!"  An answered prayer is that we acquired her augmentative device Wednesday of last week! We are busy programming and exploring and enjoying Luisa's new "voice."  There are times Luisa gets quite frustrated with the eye gaze device.   She is, after all, learning a whole new language where she has to memorize motor pathways to select just one word or phrase.  Then there are times she amazes us with her speed and clear intent with the device.  Please pray she will have success on this device and we will have patience and determination in teaching her how to use it.

2.   Walking - Luisa is walking!!! She learned to walk shortly before her 2nd birthday.  Over the last few months her stability has increased.  She can bend over and pick up objects from the middle of the floor and she has started to stand up in the middle of the floor!  Uneven surfaces still trip her up.  Luisa has "bad days" when her stability is quite off.  On those days she falls in the middle of the floor and her legs give out from under her when she is walking.  There are times she reaches for a table for stability, misjudges the distance and falls forward on the edge, nicking her forehead or chin.  Our prayer is that walking will become so automatic that if she neurologically regresses more in the next year, walking will stay.  Also we are prayerful that she will be protected from any serious falls.  

Rett Syndrome is puzzling in it's progression.  For awhile we were vigilant about putting up the wood gate at the bottom of our stairs.  Luisa's newly acquired skill of climbing the stairs was being tested everyday and we wanted to make sure she was safe.  I'll never forget losing sight of Lu for a short time while we were both downstairs, only to find her upstairs a few minutes later - she had climbed the whole flight of stairs!!!  Luisa started climbing stairs shortly before she learned to walk, a few months after her diagnosis.  Around the same time she was also climbing up on chairs and standing up.  I delighted in this typical exploratory behavior.  These daring feats surprised and encouraged us.  We were so proud.  And then the skills just disappeared. No more crawling up stairs.  No more crawling into chairs.  The wooden gate has been stowed away - no longer needed.  Back and forth, back and forth we go.  Yet we do not stop.  We are back to teaching her to crawl up the stairs using her hands and knees.  I am hopeful that someday we will be forced to find that wooden gate we've put away, to keep our adventurous girl safe.

3.  Behavior - This is an area that brings much bewilderment.  Luisa is not our first two year old to parent and certainly not our most strong-willed.  So many of her behaviors, sitting in the middle of the floor crying and screaming because she cannot have what she wants (either because we don't understand exactly what she wants or because no, you need to work right now, not watch Elmo) is typical two year old behavior.  But there are other behaviors that extend far beyond typical two year old antics.  Gastro-intenstinal issues that sneak up on us even as we try to be vigilant cause her great physical discomfort and pain.  It sneaks up on us and suddenly we have a full day of crying, and I beat myself up - how did I not notice we were headed this direction? 

Anxiety.  Specifically anxiety in the car.  Luisa practically lives in the car as we shuffle to and from therapies, take big sister and brother to school, and around for various family activities.  God has been most gracious in sending people to help us with some of the transportation load but large hours in the car are inevitable.  Luisa hates the car.  She screams and cries.  There are things that seem to help, such as an Elmo video, having a duck to hold and bite, or her bunny.  But many times even these things do not work.  I feel so torn about this issue.  My heart breaks because obviously the car causes her anxiety but on the other hand, we can't stay locked in our home, church and therapies are non-negotiables.  It is a helpless feeling and it puts everyone's nerves on end.  When I say "scream," I mean ear piercing screeching.  Please pray this intense dislike for the car improves for Luisa and for our family.  Please pray for mood regulation issues, a common problem in girls with Rett Syndrome.

4.  Hand Use - Alongside speech, hand use has been the most significant change in the last year.  Her hands have become increasingly limited as the hand movements that characterize girls with Rett syndrome - constant movement or frozen posturing - are taking over Luisa's waking hours.  Luisa clasps her hands at mid-line for most of the day, usually while squeezing a duck, moving it rhythmically to her mouth and then back down again and then to mid-line as she clasps and squeezes her hands together or her duck.  When the duck is removed from the equation, her hands continue in their nonsensical pattern but Luisa grows agitated.  She needs the duck for the mouthing feedback and honestly, I think to cope with her hand movements.  Luisa still self-feeds.  She is adamant about self-feeding.  I would say about half of the food actually makes it to her mouth.  Often she will drop her food before it leaves the area of the tray or drop it just before it reaches her mouth.  She rakes rather than pinches to pick up food.  Really though, her self-feeding, limited as it is, is something to be celebrated.  I am thankful she is still able to do this task.  We are extra vigilant as to how much food she is actually consuming and we eat all day long, rather than scheduled meals.  At the end of every meal we spend time feeding her ourselves.  She's a sweet little bird at this point.  Opening her mouth willingly, after being given the opportunity to do it herself.

One challenging thing about Luisa's decreased hand use is her inability to interact with others appropriately.  Think about it for a minute.  How much of our connection to others is based on physical touch - a handshake, a pat on the arm, a hug, a touch to the cheek, the holding of your child's hand?  We instinctively need and desire to give touch.  Luisa is no exception, she longs to touch others.  Recently we were trying out a new sitter.  I stay home and observe how new sitters interact with Luisa for about a week or two before leaving them alone with her for short stints.  During one of these supervised days I overheard the new sitter scold Luisa for hitting.  Luisa wasn't angry when she hit the sitter.  She wasn't upset in the least.  She was trying to touch the sitter, perhaps put her arm around her neck as the sitter carried her.  Unfortunately her hand and arm frequently move at speeds she cannot control and overshoot their destination.  Rather than caress our face, she hits us across the nose.  Rather than pick up the toy off the table she knocks it down along with everything else on the table.  If gravity is working against her, she will drop the toy every time.   Children her age will often flinch as Luisa's hands go up.  She most likely wants to greet them with a touch and her hands and arms just won't cooperate.  I'm there to explain but it pains my heart to see her so misunderstood.  If people would look into her eyes they would understand what her hands cannot communicate as she pierces her bright blues into your eyes with intent - "hello!"  "I like you!"   I pray Luisa will always be able to self-feed, pick up her duck, move her bunny to her mouth for comfort.  I pray for grace for those who interact with her, that they will understand her limitations.  

5.  A Cure - Tomorrow we will host our 2nd Lemonade Stand - "Lemonade for Luisa."  I think back to last year's success.  Almost three months post diagnosis we were gathering sponsors, coordinating an event, setting up a fundraiser.  Underneath all the lemonade and raffles and donation jars we were still processing, still wondering what this diagnosis would mean for our little girl, for our family.  A year later I cannot say we have "arrived," at some sort-of acceptance or higher-level of understanding.  We have, however, found a "new normal."

I think back to our stand last year.  The amazing, overwhelming show of support.  God's hands and feet loving on our family, blessing Luisa.  That lemonade stand was an important step in healing for our family. We needed to do something tangible for our girl.  We needed to invite others in.

This year we will once again open our yard, offering lemonade and coffee, muffins and sugar cookies.  Luisa's friends have been hard at work crafting for our lemonade stand. Their art work will be on display, donated with the hope for a cure.

For you see our family, families everywhere never, ever give up hope that a cure will be found.  And before that cure is found we long for medication specifically tailored to the mutations found on the MECP-2 gene.  Medication to change the chemistry and cellular make-up of this disease, reducing or wiping out just a few of the many daily challenges our girls face.  This is not a "pie in the sky" dream.  This is reality.  Articles here, here, and here, show evidence of the radical advances towards pharmaceutical intervention and a cure for our girls.  I believe giving to this research is a most worthy cause.  Why?  Because of this girl....  And this girl.... And this girl.... And this Famed Warrior, my beautiful girl....

I believe it is a worthy cause because medical advances in one neurological disease, will lead to breakthroughs in other diseases - specifically Autism Spectrum Disorder, Parkinsons, and Anxiety Disorders.

I believe that if we don't raise the funds for research who will?  Rett Syndrome is classified as "rare," because only 1 in 10,000 live births are affected by this disease.  Government agencies see "rare" and say "no funding."  So guess what?  Families step up with passion and purpose because rare just doesn't mean anything when it is your girl who is suffering.  Rettsyndrome.org has invested $35 million dollars for Rett Syndrome research.  Thousands of lemonade stands and Strollathons contributed.

And finally I would say this.  If you are praying for Luisa will you be praising too?  Because God is most worthy and He has supplied everything we've needed for this journey over the last year.  Many of you reading this blog are God's answer to our prayers.  Meals brought, car pool for our big kids, your friendship, your notes of encouragement, your donations to rettsyndrome.org - they've all served to encourage us and meet our needs.  More than anything God has given us gracious gifts of answered prayers (walking, eye gaze communication devices, competent, empathetic therapists).  But where the answer has been "no," He has been more than enough, supplying the strength and peace we've needed each day to face these challenges.  God is teaching us contentment, submission, and joy in all circumstances.

I will lift a glass of lemonade tomorrow morning and pause to reflect - God is good all the time, amongst wringing hands and lost speech, ataxic walking but eyes so bright.  All the time, God is good.