Facing Fear

I was going to write this last night, too exhaustified.  It’s a mother kind of tired.

This is our Isabel.

I look at this summer pic, and it so accurately captures the future for this child.  This child.   No matter how we strain to see what lies ahead, it remains as indistinguishable as the horizon in the photo……

How does a mother ever put into words the love that swells to overflowing when she looks at her child?  A mother knows all the joys.  A mother also knows all the struggles.  Somehow, this is how God forms the heart of a mother through the years.  It is how God awakens a deeper love, a more sacrificial spirit in order to help the child to grow.

Shortly after Isabel was born, it became apparent that something significant was wrong.  Unable to hold up her head as expected in those first weeks, developmental milestones passed Isabel with increasingly alarming speed as the first months of infancy passed.  Her hypotonia was severe. Doctor after doctor after doctor.  Test after test after test.  No answers.

Years.

Years went by with no answers.  Every test would lead to hopeful thinking.  Every result would send us careening back in the dark.   Once again we had to beg the Blessed Mother to help us to live out whatever was God’s plan.

The tension between wanting answers (in case something else could be done to help her), and just wanting to love her, started to exist in a harmony that helped us start to surrender in peace.  Trying to accept, perhaps, we would never have answers.  It happens, right?  People don’t always have a “why” to explain their child’s disability.  We tried, after many years, to accept  that we would not have a diagnosis for Isabel.

One thing I was expert at through it all?   Knowing the ropes of intensive therapy that would be available.   We spent even more time on therapies than on medical searching.

These photos are all recent because my computer does not have archives going back very far.  (Oh SOO lucky for you!) From the time Isabel was 8 months old, we had 2 Speech therapy sessions per week, 2 OT Therapy sessions per week, 2 Physical Therapy sessions per week.  Yep, we lived a very therapeutic lifestyle!  Kind of lived in the van.  We all went together, kids bringing school books to read. Often, we ended up participating too, and quickly became her most devoted cheerleaders.  In her infancy Isabel wanted to just be.  She did not want to exert herself AT ALL.  Oh my gosh, those therapists were virtually standing on their heads to get her to rouse herself.  There were also the times when the mother bear in me had to say, “stop” as they pushed her to the point of her crying out in distress……some days therapy was joyful, other days therapy could be very painful.

When she turned three, services came under the domain of the public schools.  From ages 3 – 5, Isabel’s life was so incredibly blessed with Miss Margie, teacher extraordinaire!

In true parent-warrior fashion, we also continued outside private therapies.  (we were so blessed because our insurance would cover part of the cost)

Ever have someone who God just plunks down in your life who is a miracle of His love?  Here she is, Isabel’s private Speech Therapist, Melissa.  I believe with all my heart, this woman single handedly taught Isabel to talk.  Melissa took Isabel to a level of communication that to this day I do not think would have happened if it were not for this incredibly gifted therapist.  Melissa took Isabel in at the very primitive communicative level she was functioning at, helped Isabel to feel understood, and then gave her the communicative support to get to the next level; over and over this miraculous type of therapy amazed us!  (Yep!  Now I am forever telling Bel to be quiet! Meh!)  When Melissa started with Isabel, she attended all meetings with the school and was able to obtain an I-Pad as part of Isabel’s IEP.  Miraculous!  What a gift technology is for our special peeps

Speech Therapy

It was such a happy day when Isabel’s name finally got to the top of the waiting list to begin Hippotherapy.  Have to admit it makes me laugh when people think she is riding a Hippo!  “Hippo” should mean “horse” for everyone, right?   It was love at first session ~

Before riding, every patient has to put their “ticket” in the mailbox where they mount the horse!  A true highlight for Isabel!

Medical appointments continued.  Many, many more doctor appointments, tests, medications…..

Oh how her eyes melt my heart.  Every. Single. Day.

❤

At the same time, every family member soon obtained a Master’s Degree in “Bribery and Distraction”.  What is that old saying?  “Necessity is the mother of invention”?  Well, the medical version goes something like this……if she pulls the wires, you are here for another 24 hour EEG.  Hmm…..just slightly motivating!!

And more doctors.

The girl definitely has her mother’s stubborn streak!  Poor kid.  NO cure for that!

I blame the Irish in us!

Isabel sit up for the doctor, please!

More doctors.  Neurologists.  Hematologists. Geneticists.  EEG’s, CT Scans, Blood tests, X-rays, Neuropsych Testing, some close to home, others far away….in round after round after round.  The good doctors ruled out Angelmans, Cohen, Fragile X, and Prader-Willi syndromes amongst a hundred other possibilities.  All throughout these medical years, Isabel was living with terrible bouts of cyclical vomiting and diarrhea several times a month. (sorry, TMI I know!)  She wasn’t sleeping well, even after the toddler years. She was diagnosed with a seizure disorder, even though there were no outward symptoms.  She was placed on one seizure med that made her so crabby, it was a short lived medicine.  The next one was the same.  On a med.  Off a med.  And with these meds it is slowly on, and slowly weaning.  After that, a third was tried.

This new medication stopped almost all of her vomiting and diarrhea spells.  Score. Really BIG score!

We continued on with all therapies; and through her speech therapist’s suggestion, initiated others.  Adding in a reading specialist who set up a personalized reading program entirely based on the language that Isabel used in her everyday life.  It was an enormous amount of work for all of us ~ that brought the most INCREDIBLE results as we watched our girl fly with learning to read words using a Discrete Trial Methodology.  Isabel continued to surprise everyone with her progress.  It made our hearts soar.  Over the years, we came to rest in thinking we would  continue on, helping our girl learn, and loving that sparkly, stubborn smiley face as best we could.  Yes, we went on.  Until.  Just as we surrendered our hearts completely to God’s Will.

Suddenly.

So suddenly.

A door opened.

One doctor.

Caught something on the MRI.

She immediately called us in to her office.

She explained that the MRI showed iron deposits in Isabel’s brain.  In the area of the Basal Ganglia.

Heads spinning.

She said there is only one diagnosis for this.  She wrote it down on a little yellow sticky note and wanted us to go back to our Medical Geneticist for investigating.

I think I accidentally lost that little sheet of paper five times.  I know there was a part of me that was so frightened of what could lay ahead.  What would all this mean?

Fear.

Can so grip a mother’s heart.

With any difficulty in life, I truly think God doesn’t expect us to take things calmly when they first hit.  Well, at least that’s what I try to tell myself so I can accept why these things send me off the edge of the cliff in endless sorrow.  We had just gotten to the (almost) comfortable place of resignation.  I had been ready to accept there were no answers for the “why” of Isabel being so disabled.  Suddenly, it seemed God wanted to toss in an answer.  Lord? Now?

Yes.

Now.

Didn’t want to face this.

No choice.

“Be not afraid.”

It is in Sacred Scripture 365 times. Sr. Marie said so.

Once for every day of the year.

Prayerfully, clinging to the Blessed Mother, we walked on.

We left the world of waiting.

And entered the waiting room.

Like frightened children clinging to God’s Fatherly hand, we entered the waiting room with me still largely in denial.  I think denial can be a very good coping mechanism, just as long as you don’t get stuck there.  All the tests, the multitude of tests all these past years turned up no answers. I convinced myself, this too would be the usual “no answer” just like all the other medical tests in the past.

We met with the doctor and the medical genetics counselor.

The time had come for the blood draw that I was sure would come back “No answer”.  Less than 20 people in the US had had this test done.  Cost for Whole Exome Sequence Analysis?  Over $20,000.

Blood was taken on October 30,2012.

Shipping to the lab was overnight air.  Results would take much longer.

Months went by.

Life went on.

Childhood still retained all that was typical.  Including a broken arm!

Hey!!! Aren’t broken bones a boy thing?!

Surprise!  More medical tests.

This little girl so squirmy?  She wriggled out of her first cast.  Yes, in the middle of a 72 hour EEG.  (Are you surprised?!!) The good doctor reassured us that this next one would stay on!

This doctor was beyond sweet with Bel! ❤

A cast?  Keep Isabel from playing with play dough?  NEVA!!

Some nights, I would find myself standing over her, in awe of how beautiful she was, tears flowing for how crippled her mind seemed to be……praying to heaven as she dreamed.  A holy priest once told me in a letter that a Mother tears are as precious as gold to God.  Joy is so easy to embrace, yet tears will always be part of motherhood; for all of our children.  There is where the necessity, the comfort and the beauty of a mother’s prayer life shines ~ in the love for her children.  How constantly there are the times when my prayer is such a simple prayer  ~  “Lord, be by our side….”

Therapies continued.  Isabel’s progress continued to astound us all!!  VERY difficult behaviors.  VERY bright mind!  Professionals who were such a gift to our girl ~

Her personalized reading program, and helping her to continue to progress became our number one pastime!

It was a family sport to help her learn.

 

All that effort?  Solidified family bonds and love in a very mysterious way.  The other kids rarely complained.  Ok, I take that back.  Complaints were frequent and loud when Isabel would get into their “stuff”!  Through it all, it really was quite remarkable to have us all uniting to help Isabel with so many, many needs.

❤

And as far as those difficult “meltdown” behaviors went, a dear friend approached me asking if we had ever tried Essential Oils.  Had never used them in the past.  Now?  Lavender is diffused on a regular basis, and has helped immensely with calming when Isabel is having a stormy day!

Yep, AND a very good Behavior Specialist!

When life becomes that intense, it was also became increasingly important to me that we make the effort, no matter how small, to keep life balanced. (Is that possible? Ha!)

So, in our house, being silly is also considered very real and necessary therapy!

To this day, I think LAUGHTER goes such a long way to relieve everyone’s stress!

Batches of homemade play dough became a daily ritual of love….

Birthdays came.  And went.

…and more wonderful therapy

More reading…

and learning on her I-Pad…

We went on as normally as we could.  We were sure there would be no answer.  Another part of me wondered what was just ahead.

Spring 2013.

Brought an answer.

And it was far more devastating to my mother heart than I could have ever dreamed.

The test results came back.  With a diagnosis.

The testing for this is so new,  the doctor that discovered this gene mutation, Beta Propellor named it in December of 2012.  It was hard for me to wrap my head around the fact that Isabel’s blood draw was Oct. 2012.  The scientist who discovered the mutation named it in December 2012.  Isabel’s results came back to the doctor April 26, 2013.  Our appointment with the doctor was May 14, 2013

Diagnosis?  “Heterozygous for the Q16X mutation in the WDR45 gene”.  This De Novo mutation causes Neurodegeneration with Brain Iron Accumulation.  NBIA for short.  Isabel’s type is BPAN, which involves the WDR45 gene.  It is genetic.  There is no known cause.  There is no cure.

Current medical research is that this mutation is “predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.”

Symptoms involve global regression, dystonia, dysarthria, progressive delays, progressive spastic tetraparesis, parkinsonism, progressive dementia and optic atrophy affecting the optic nerve.

Isabel. NBIA Disorder -Type BPAN.

“It is degenerative” caused sorrow we have never experienced before.

Degenerative?

God.

Why?

Truly devastating to hear.  Even more devastating to read about.

I still cry at the thought of Isabel no longer walking and talking.

The good doctor smiled as best he could.  “You will take her home and continue on just as you have.  You will still love her, and treat her the same.  That will not change.

There are fewer than 200 people worldwide that have it.

Our girl, this little one with a heart so big is surely one-in-a-million.

Why am I writing this now?

Tomorrow, May 28, 2015,  we leave for our very first NBIA Conference.  It makes all the emotions come bubbling to the surface again.  I need to increase my prayer.  That Scripture passage about I can do all things in Christ?  There have been many times when I have been sure it is only quoted by people who haven’t had too much cross in their life.  There are times when I ask God to prove it.  I keep telling Him that we need MORE.  More strength, please God, we cannot do this.

As I write this, as I look back at just a small spattering of photos of Isabel, I see something…

God was there all along each and every step.  Whether we were in the pits of sorrow, or in the heights of academic gains did not matter.  He was there.   How can we know for sure?  Because if he had not been with us, we could not have done any of it.  I know how weak we are.  How little and afraid.

And going forward?  We know the most important thing will not be potty training.  It will not even be achievements in a stellar reading program.

Going forward, the only thing required will be to continue to love her. Every step of the way.

❤

With open hearts, we look forward to many blessings at our first NBIA Conference too.

Parents and professionals gather every OTHER year.  (Rare Disease you know)  This year it is in Minneapolis.  There won’t be another conference for two years, and I am sure it won’t be close to home, so it is time to leap.  More than anything, I am really looking forward to meeting the other 3 or 4 families with children who have type BPAN.

It is a lot of emotion.  It makes me cry all over again because this diagnosis makes me feel like all the intense therapeutic work for all these past years helping Isabel learn will most likely have been in vain.

Well, nothing a mother ever does for her child is in vain.  Reality?  Every minute filled with Love.

We know that she is so very precious in the eyes of God, and there is hope this coming weekend will help us to understand just how precious.

Throwing on some extra pics just because…

Because as I added them to my media file, it becomes palpably amazing how much love exudes from the heart of our one-in-a-million girl!

She loves Legos, play dough, jumping on the trampoline, cutting apart books and stealing my permanent markers (and writing “Isa” and everything). She loves swimming in her “Shimshoot”, going to “moohees”, going on “FeeTwi” with her class at school. She is all over “Evawin” with kisses and hugs.  She LOVES Kids Bop music, and dances and sings all over the house.  Isabel HATES brushing her teeth, or anyone brushing her hair!  She still holds the title of world’s biggest mess maker, (REALLY) and the next second melts your heart with a hug!  She ADORES “fwop-fwops” (flip-flops) and would wear them even in the winter if we let her!  She loves having her nails painted and calls it “pink”.  So if she asks for “pink”, she wants you to paint her nails.  Most importantly, she is so attached in the depths of heart to so many, many wonderful people!

Just a few of you are below!

A very holy priest used to tell us the eyes are the window to the soul.  I know it is true.  These beautiful little eyes?  They speak only love.

I have also learned that when facing any fear, the only way for me to get through?  In prayer, and with more prayer.  Holding tight to the Hand of God.

❤

Hope you’ll pray for us too!