June 14th, 2008   Our wedding marks the beginning of our “Once Upon a Time” story.   We became friends in Britt’s freshman year at Lipscomb University, flirted for about five years (both played hard to get), and finally logged one year of actual dating.   Our first date was at a local pizza parlor near Lipscomb.  It felt more like the tenth date, and we both knew this relationship was going the distance….  It was truly a match made in heaven!

  

 

 

January 27, 2011  Two and a half years passed quickly and God blessed us with our first little girl, Blakely Layne Goodman.   It was a “typical” delivery – on a warm January Thursday we rushed to the hospital around 4:30 PM (three days earlier than scheduled, and in the insanity of Nashville rush hour) after an entire day of being in labor (at work and not knowing it).  One emergency C-section, and we were parents by 7PM (about the time the grandparents rolled in).  Luckily, we had our hospital bags…brought to us by neighbors.  And it was all well documented with our expensive new camera…that was left at the house…so yeah, typical.

 

All of the stress was quickly forgotten when we laid eyes on our beautiful new baby girl!   The Lord had blessed us with a gift so great that words cannot express.  She was 5lb 12oz of absolute perfection, and she was ours!  How people experience the miracle of birth and not believe in a higher being is something I’ll never understand.  

 

Birth - 15 months  As we adjusted to 12, 3, and 5 AM wake up calls from Blake, everything progressed normally.  Blake was the first grandchild on both sides of the family, so she was “well-outfitted” and never lacked for attention!  Her first year was filled with typical milestones, and an over-abundance of iPhone photos.  She loved to eat (organic, of course).  She loved spilling her toy box to play with her toys, and she gleefully flipped through books all by herself. We laughed as she danced in her high chair to Mexican restaurant music (all captured on video, of course).  She took trips to Huntsville, Waverly, Charleston, the beach… always on the go, and always the center of attention.  Blake would pretend to read books, babble, play peek-a-boo, learn to swim, and was the prettiest thing you have ever seen (really)! 

 

At 10 months, Blake began to crawl… a bit late, but no real concern. And once she got the hang of it, she was off to the races!  She was in constant motion… climbing stairs, climbing furniture, falling off beds (eek)… a seemingly insatiable desire to be on the move.  At 15 months we became a little concerned that she wasn’t showing any strong desire to get on her feet.  A minor concern at best, but this was our first child, and we were learning too. 

 

Each visit to the doctor was summarized in emails to our family, logging her growth, and reporting the doctor’s praise of her perfection, health and intelligence.  She was developing perfectly, and we were so proud.  Her first birthday was an event planner’s masterpiece!  We celebrated one of the best years of our life together.  Looking back, we are so glad that we celebrated that year in such grand fashion.  We wrote in her birthday photo book, “Thank you Blakely Layne for the best year of our life!”

May 2012 - May 2013  Upon reflection, it was during this time that we began to see regression…slowly.  Websites and experts call it “insidious”.  The first signs were subtle, and easily explained away:

  • “She just knows what she wants, and when she wants it”

  • “She’s strong-willed!”

  • “She loves to be on the move – not interested in slowing down long enough to be interested in toys or books”

  • “She can crawl so fast, why walk?” 

 

In reality, she stopped looking at her books independently, she stopped using her left hand to eat or drink, and she resisted when we would pull her into a standing position.  She had crying fits at multiple times throughout the day, and mornings were very difficult.  She was often weary and tired, bordering on irritated – “She’s less than two,” I thought, “have the ‘Terrible Twos’ begun already?” 

 

How I wish that it was only the typical ‘Terrible Twos’.  Strangely, I could see something in her eyes… almost as if she was saying “help me”.  I remember one day (around 20 months old) when I handed her a cup, and she wouldn’t take it.  She looked at the cup, and looked up at me… as if her body didn’t know what to do. Was she defying me? She’s not even two!  We started researching sensory issues.  I bought three books and read them in a week.  This is the answer - we just need a little therapy.  She would start walking soon, but what about her words?  Those weren’t coming much anymore either.   

 

Physical Therapy - “She just needs a little push from a professional.”  We met with a PT (friend-of-a-friend) after hours. Within 45 minutes she was on her feet and walking with assistance.  We were elated. We went home and walked and walked.  Her balance was not great, but she was trying.  Her tenacious little spirit kicked in.  She was determined to learn, and we were determined to help. At 22 months, she took her first independent steps, and we were over the moon! Her gait was a little unsteady… more of a controlled stumble than fluid motion.  And then her left hand did funky things as she walked – a sort of flapping motion.  “Just a cute little quirk” we would say.

 

We also began therapy with the Tennessee Early Intervention System organization.  During her evaluation, they suggested we visit a Neurologist (as a precaution). “Neurologist” was a troubling thing to hear.  We complied, and visited several times over the coming months.  No real findings were offered… we seemed to always leave with “She will be fine… just a slight delay” diagnosis. Slowly, the regression continued (really more of a “lack-of-progression”).  Blake started “wringing” her hands in a motion as if they were asleep, trying to wake them up.  She would stuff her left hand into her mouth, more so when she was tired (this drove us nuts!).  Her balance was tenuous. She fell often, and she didn’t seem to navigate her surroundings well. Various diagnoses were suggested/researched, ranging from Sensory Processing Disorder to Apraxia to plain and simple “delayed”.  The guessing was weighing on us.  We finally convinced our Neurologist to order an MRI.

28 months  On June 21, 2013 we would meet enemy #1. We went to Vanderbilt Children’s Hospital for a brain MRI. They said we would receive the results the following week…you can imagine our surprise when our Neurologist called us that afternoon.  We listened intently as he explained Chiari Malformations.   Blake’s cerebellum was protruding 18 mm into her spinal column, causing pressure on her spinal column, and restricting the flow of cerebral spinal fluid.   This was shocking, but in a sense we were relieved that we finally had a reason for the balance and sensory issues.  Surely this was the primary culprit for all of Blake’s symptoms.

 

Our Neurologist explained that she needed surgery to relieve the pressure...  Our baby needed brain surgery.  We now refer to this as "The Chiari Tour of 2013".  Another MRI (spinal) was ordered to rule out any additional damage before we could meet with the Neurosurgeons.  With results of both MRIs, we visited four cities/hospitals/neurosurgeons.   We elected to go with Dr. TS Park at St. Louis Children’s hospital – he advised a minimally invasive approach known as “decompression” surgery - remove some skull and pieces of vertebrae to make room for the 18mm protrusion.  He advised that Blake was too young for the ‘full’ surgery that involved expanding the dura layer and potentially removing brain tissue.  It was a gut-wrenching decision.   

Andi Mac August 6, 2013  Oh we failed to mention… we were seven months pregnant when we discovered the Chiari and planned Blake’s surgery.   On the advice of Dr. Park, we decided to wait until September, after the birth of our second daughter, to have the surgery.  On August 6th, 2013, we welcomed Andi McCarly Goodman (Andi Mac) into the world!  She had no idea what she was getting into!

 

Andi’s birth was smooth and uneventful (not counting that she was breech and delivered via C-section).  This time the grandparents made it – better planning. Andi was a perfect 7lb 6oz bundle of joy.  We were in love all over again.  Our hearts were full, despite the looming surgery.  For a few days, we set aside the thoughts of surgery and indulged in our new healthy, happy, beautiful baby girl. Though unsure at first, Blake seemed excited to be a big sister and we were very blessed to see our family of three grow to four! 

31 months   On Labor Day we packed our bags and formed a caravan to the grand Arch of St. Louis…the Gateway to our cure.  The drive was somber.  I remember it being a beautiful day and thinking of God's creation. We knew His hand was present in all of this.  The next morning, we arrived at St. Louis Children's Hospital at 5AM… grandparents, aunts, and four-week-old baby in tow.  

 

For parents that have endured sending their children off to surgery, you alone will understand what I'm about to say.  Nothing can prepare you for the range of emotions you feel, watching medical staff prep your daughter, and then watching her being carried to an operating room.  We were fearful but trusting, aching but hopeful.  We knew we had God and a host of friends and family praying for us around the globe.  The surgery was deemed successful, but the days following were tough.  I wish I could erase the memory of her little body, swollen head, and puffy face lying in that hospital bed. It still haunts us today. 

 

We were released the following Friday and began the five hour drive home… with two babies, one fresh out of the womb, and one three days out of surgery with no mobility, and stitches in the back of her skull (and in a lot of pain).  By God’s grace, and with the wonderful support of our family, we made it home to an outpouring of love from friends and family.  Thank God for you all!

31 months - 35 months  Blake’s recovery phase had good days and bad… some really bad.  Only the future would explain why the bad days lingered.  There was a lot of crying, squinting and grimacing.  Every morning Blake was in pain, and would grab the back of her head.   With no words to express her discomfort, every cry, grimace, and scream was a guessing game.  Was it the Chiari, was it a muscle spasm, was she just tired, did she want water? Was she getting feeling back into her left arm (tingling)? Sometimes we could figure it out, sometimes we’d try everything, and still the tears persisted - a constant guessing game.  We were told to wait at least two months to see any improvements.

 

We watched her carefully and hopefully.  Thankfully, her balance was much improved, and there seemed to be notable improvement in coordination – she wasn’t tripping and falling nearly as often.  Unfortunately, the surgery did not relieve all symptoms and concerns.  It seemed as if Blake was slipping away, and we continued to search for answers. 

 

We enlisted a new pediatrician in October 2013 and immediately ordered new lab work.  Through this process, we discovered an MTHFR genetic mutation, which affects the body’s methylation process; not terribly uncommon…but reason enough to correct through supplements and strict diet.  In simple terms, mutations affecting the MTFHR enzyme cause non-optimal production of glutathione (a key antioxidant).  Obviously this was a concern, as she had been anesthetized three times - brain MRI, spinal MRI, Chiari surgery - and given countless rounds of Tylenol, Ibuprofen, and antibiotics (all of which can impede glutathione production). #NotTheBestNews.  We were advised to avoid most OTC medications (doTERRA oils to the rescue!), and we began a strict Gluten Free Casein Free diet, B-12 injections, and a long list of other costly supplements.  We had a plan and new information which triggered additional research.  And research we did. 

 

Ultimately we found information written by Dr. James Neubrander, a pioneer in the field of biomed treatments.  His techniques and protocols had reversed symptoms in children diagnosed with Autistic Spectrum Disorders, apraxia, Sensory Processing Disorder, Pervasive Developmental Delay, and Aspergers.  The approach was controversial, but hundreds of hours of parent testimonials (we watched every hour) was proof enough for us.  

36 months - 41 months   The day after Blake’s third birthday, we left little Andi in the capable hands of grandmothers and hopped on a plane to New Jersey…in the winter…on the same week as the Super Bowl – great timing.  We visited the Road to Recovery clinic and biomedical specialist, Dr. James Neubrander.   While Autism didn’t fit, we surmised that many symptoms could benefit from Dr. N’s protocols.  Whatever “it” was, her brain was being affected in a similar way to Autism. 35 hours of paperwork covering the minutest details of our pregnancy, delivery, and first two years of life were a pre-requisite.  Dr. Neubrander met with us for two hours.  He tightened up Blake’s supplement protocol and diet (which was already ‘strict’), and ordered additional tests to discern a complete bio-medical picture.  We got a crash course in Bio-Chemistry…way beyond the 101 level.  Our “Marketing” brains listened closely…we soaked up all the neuroscience we could hold, and tried to draw connections from our prior research.  

 

Following Dr. N’s rigorous protocol, we started everyday vitamin B-12 shots, purchased a Hyperbaric Chamber for oxygen treatments (HBOT), and added to a long list of supplements, creams, and therapies.  We checked in every few weeks via phone consults with Dr. N, and continue to do so (we’ll blog more about this later).  We began seeing improvement - mainly in her disposition and attitude.  There was less fussing and more cooperation – she just seemed to feel better, happier.   While pleased with these results (good for us, but small on the grander scale), we could not help but feel there was still “something” else. Attitude, disposition and coordination improved, but we were still concerned about her hands.  Why didn’t she use her hands?  Why couldn’t she figure out how to pick up a toy, or how to push herself up from the ground?  Why is she hitting her mouth with her left hand?  It was getting worse, and we decided to meet with a new Neurologist. 

 

Armed with a 4-inch binder of medical records, notes and labs, we walked Dr. Cruz through our journey.  He was encouraging, attentive, and intrigued by the things we were doing for her.  He listened closely and suggested other things to explore.  He referred us to a Neuro-developmental specialist at Vanderbilt, and gave us a genetic test kit to take home (they call them “spit kits”).  This test would hopefully “rule out” any additional genetic issues as we waited for our Vanderbilt appointment.   

 

July 7, 2014  On this day, we met enemy #2 - a formidable foe.   The genetic test confirmed that our sweet little girl of 3-and-a-half years  has Rett Syndrome.  RS robs little girls of the ability to speak, walk, and have purposeful use of their hands and limbs.  Breathing issues, scoliosis, osteoporosis, and seizures may be in our future.  RS has been likened to a mix of Autism, Parkinson’s, Apraxia, and Epilepsy – all rolled together.  We were devastated by the news, but a strange peace came also.  Three years of guessing, searching, crying, wondering, praying, and questioning led us to this.  We now had focus, and specific direction.  Our prayers are now specific, and we could ask others to pray as well. 

 

Today 

We still cling to hope, but a bit redefined.  We hope in our God, and we also hope in a cure on this side of heaven.  The devil is in the Rett Syndrome, but our God is in the cure, and there is tangible hope for that cure.  Scientists have reversed RS in mouse experiments, and symptoms improved.  Please click here and here  to learn more about the exciting discoveries and on-going work to translate this into a viable treatment for our Rett girls.  It could take awhile, but we will do our part to speed it along.  Our goal is to raise awareness and money for Rett research and treatments, AND, to make Blakely the best possibly Blakely she can be while we wait.

We are the Goodman family, and we are battling Rett Syndrome with all our might. This will NOT define us, and we will fight for it to NOT define Blake.   We are going to rock it.  We will forge ahead with our current treatments and doctors, and explore every available Rett resource.  We will wear the t-shirts, join the movements, raise the money, and ask all of you to ‘Like’, share, tweet, scream and yell everything you can… until a cure is found.  

 

Blake has an amazing brain… she knows what's going on… she knows what she wants.  Even though her body sends miscues – she is smart.  We will continue to treat her this way, and we ask that everyone around us will too.  

 

God is in this, and all over this.  Will it be an uphill battle?  Yes.  Will we have weak moments? Probably.  Will we cry a lot?  Likely. This is why we need you. We need your prayers and need your support.  We need your help in showing Blake that she is loved, and that she is capable of overcoming the challenges.  We will need to be creative, but we will do whatever it takes.  We will never lose hope in her recovery.  She deserves that from us -- all of us.  

 

Please pray for us as we move forward, as we meet with the specialists, and as we pursue possible clinical trials.  Pray for us as we search for a cure and hope for recovery -- ask for God's provision spiritually, physically, mentally, financially.  We will make Blakely the best possible Blakely she can be.  We are on Team Blake, and we are accepting any and all team members.  We began with “Once Upon a Time”…the story is not finished…but we hope our “Happily Ever After” chapter includes a cure for Blake and all Rett girls.

 

#ForTheSakeOfBlake