Grand Parenting Part IV - Where have I been? #TakethatRettSyndrome #Rettsyndrome

Being a grandparent is one of the most important tasks in life.  Is it a job? Maybe. A task? Maybe - maybe not.  Is it a way of life?  Definitely!  Whether you are destined to have one, two, three grandchildren or more each one is special and unique and has one thing in common.  They are all part of you.  If you are involved in your grandchild's life you will be admired, looked up to, and expected to be a superhero 24/7.  Expect the unexpected, the midnight wake up calls, the good, the bad, and certainly some ugly.  Of all the experiences you will encounter as a grandparent nothing can prepare you totally for every issue, scenario, or problem.  Love and consistency will get you through it all.  You may not be the richest, the most generous monetarily, but with love, guidance, and trepidation you can be that superhero.

Where have I been?  Really, I have posted nothing to this blog for some time but I cannot be concerned about it [lack of new content].  Priorities, responsibilities, being a superhero takes up your resources and drains your energy.  This is my story of my only granddaughter who was born September 5th, 2014.  Since then my wife, daughter, and son-in-law have embarked on a journey.

An odyssey  began before it was known, an emergency happened before we saw it, a child was born into so much love that within a constant battle of life and despair a young child flourishes against horrific odds.  What the heck am I talking about you may ask?  I am talking about a child born with Rett Syndrome. A child I love and adore.  Not any more or any less than my other grandchildren.  But, meeting the demands of care necessary to raise a Rett Princess is daunting, exhausting, heart breaking, and wonderfully bittersweet.  Her name is Maddie Rae.  She is a Rett Princess!

Rett Syndrome is a neurological disease whose etiology is a duplication, deletion, or mutation of the MECP2 gene on the X Chromosome.  It is a terrible disorder and is described as a cruel and debilitating disease.  At birth, girls seem normal and progress normally for 1-2 years.  Then, something goes wrong. Growth and development start to regress. Milestones start  being missed. She loses whatever vocabulary she has developed.  Feeding herself finger food becomes an impossible task.  She becomes reclusive, despondent, aloof, and shy's away from groups and siblings.  What is happening?  Why is this happening?  Will this go away?

The journey has begun but you don't know it.  Does the word dumbfounded come to mind. There is a virtual map to follow but it looks like a spaghetti drawing.  You need answers.  You need someone to fix this now!  Your little one is 3 years old now, can't do things she did when she was 1 year old.  Speech is gone.  Blank stares, illness such as vomiting, fevers, seizures are a weekly obstacle robbing you of energy, time and happiness. Facial dystonia looks cute but why is she making those faces and weird gestures?  Welcome to our world.  A world turned upside down.  Hospital visits for any normal child might be 1-2 before they are 18 years old.  A Rett Princess spends 5 - 8 weeks per year in the hospital.

Little Maddie Rae has a horribly debilitating disease that robs her of a normal life, her speech, and normal body function. It's a struggle.  Maddie is our Rett Princess but she can be yours too.  She is the face of Rett Syndrome.   Adorable and effortlessly cute as described by a family doctor friend.  Maddie is one of  15,000 children born with Rett Syndrome.  A disease that will continue to debilitate her and affect her every bodily function with abnormal ramifications.

Here is a synopsis of what Maddie has gone through since birth.  As a baby of 6 months of age Maddie appeared "normal" and appeared to grow and mature normally. At 1 year of age she started to develop speech, was bright, responded appropriately socially, but had difficulty standing and would much rather crawl than try to stand on two feet.  At age 18 months, Maddie could stand in place, but walking was difficult for even a few steps.  Her vocabulary consisted of the words baby, help, dada, momma, "brudda", and Pizza! among 15 other words she used consistently.  At age 2 Maddie still had difficulty walking, was unsteady all the time and still would rather crawl.  Physical Therapy was started to help with this "delay" as her pediatrician called it.  Unaware of any of the signs that were so obvious her pediatrician was clueless.  Hence, Maddie went to a new pediatrician.  Maddie's condition worsened rapidly.  Words she spoke were now gone.  Her facial dystonia was prominent.  Her walking improved but she still could not get up without help.  She started to get ill suddenly.  Vomiting, fevers, shaking, and blackouts were all increasing with frequency and severity.  We all wanted answers and fast.  What was going on with our little angel.

After a few emergency clinic visits it was discovered her serum bicarbonate level was getting critically low.  Hospital visits were a necessity and frequent to get her CO2 back in normal range.  Still no answers though.  The local fire department was asking "Why are you calling us"?  Maddie had been inside an ambulance more times than we could count on one hand already.  Maddie was labeled as having Autism-Spectrum Disorder.  My wife and daughter were rapidly gaining knowledge and reading everything they could on the subject.  But my wife knew that was not the total picture. That was not everything?  My wife was correct.  Being a Pediatric-Neonatal Nurse she knew that was not the total complete picture.  Something was just not right.  We did not know it but Maddie was in full blown regression - losing every skill she developed before she was two years old.

Maddie at Scottish Rite Childrens Healthcare of Atlanta

Maddie was diagnosed on January 5, 2017.  She was hospitalized that week with critical blood carbon dioxide, vomiting, fever, and the unknown "something is wrong".  With observation, diagnostic neurological testing, and the brilliance of renowned  Neurologist Dr. Daniel Tarquinio, Maddie was diagnosed with Rett Syndrome. Something else to add to her already previous diagnosis of Autism Spectrum Disorder.  Finally, someone figured it out.  But, how did this happen?  Where do we go from here. What is it?  Will she get better?  Chromosomal testing ensued which cost thousands of dollars only to reveal where on the X chromosome the defect occurred. Unfortunately, Maddie's defect usually renders 60% of girls with no ability to walk among other serious issues.

2017 seems like a blur for my wife, my daughter, son-in-law and me.  Multiple hospital visits with breaks in between at home.  We got to know every inch of Children's Healthcare Of Atlanta Scottish Rite Hospital, including the lobby gift shop, the cafeteria schedule, and developed favorite parking spaces. Having a pre-packed overnight bag saved time during the emergencies.  Multiple pharmaceuticals were prescribed, physical therapy, speech therapy, occupational therapy, and various doctor visits filled up the weekly calendar.  With no end in sight we pressed on. My wife and daughter sought every piece of information on Rett Syndrome they could get their hands on.  By June 2017 Maddie appeared to be coming out of her "Regression".  She was interactive, wanting to be with other children and be the center of attention.  She was walking but still had difficulty getting up if she fell.  Maddie was losing weight though and was falling off the growth chart.  Surgery was performed to place a feeding tube on her stomach; what is called a "Mic-key Button". Being her second of three surgeries it still was nerve racking. Her first was to place tubes in her ears but that is common for many children.

With fabulous medical care, Maddie started to flourish. Every night Maddie was fed through her Mic-Key button a formula called Nourish by Functional Formularies Functionalformularies.  She gained ten pounds in weight and 5 inches in height by the beginning of 2018.  Maddie seemed to stabilize.  With the holidays behind us now a new problem developed but not related to Rett Syndrome.  Maddie's tonsils were huge and she was having problems swallowing food.  Back for surgery to have her tonsils removed during the spring of 2018.  It seemed like we were on auto-pilot not knowing where we were headed but we had to be ready for anything.

Now in Summer 2018 a new problem started. Maddie was having trouble controlling her blood glucose. Erratic was the word to describe her blood sugar.  Glucose up high, then crashing an hour later, seizures followed, vomiting, it was getting scary again.  After another hospital visit Maddie was diagnosed with Ketotic Hypoglycemia. Basically, she has very minimal glycogen liver storage so when her glucose goes low she has no storage to get glucose from like a normal person does. With no glycogen to pull from fat is broken down producing ketones and acidic blood. Things were spiraling out of control now.  A scary test was performed under supervision of several endocrinologists, pediatricians, and numerous nurses. Force her blood sugar to crash, take blood samples, administer glucagon, and monitor blood sugar for an hour.   The test was a success.  She crashed alright! Then she had seizures.  Glucose was given, then slowly some food, later some dinner, and discharged the next day.  For on-going maintenance Maddie must have water and carbohydrate every two hours either by mouth or via tube directly in to her stomach.

Maddie has a disease that has rendered her with inability to speak, limited use of her hands, dystonia, mid-line repetitive hand movements, dysautonomia, seizures, and digestive problems. Maddie is a special little girl.  Her daily struggles inspire all who meet and learn about her. She is an amazing little girl, babyish in some ways, cute, adorable, witty, funny, and smart.  She cannot verbalize but she does communicate. At age 4 she has developed an expert sense of body language and can read people and communicate in non-verbal capacities far beyond the expectations of a 4 year old.  Her Grandmother Leslie is her right hand man.  "Gramma" knows when Maddie is sad, hungry, thirsty, bored, in need of attention, needs medication, and knows when she is ill as well. Maddie's Grandmother and Mother are her life-line.  Leslie is a member of the RettSyndrome.org Family Advisory Panel.

Grandma Leslie and Maddie

Are things better now? Yes very much so. Maddie attends school daily and has a life of independence for herself.  She rides her bus early in the morning and again late in the afternoon.  She loves school, family, going to church, meeting new people, and accomplishing new activities.  She rides a horse for therapy (Hippotherapy) .  She does swim therapy.  Maddie even attends martial art classes with 2-3 blackbelts as instructors at Tonchu Martial Arts Dacula GA . She is a social ambassador and my hero. She is a Rett Princess whose reign will never end.  At only 4 she has impacted our lives greatly and enriched us with love, understanding, and a soft heart.  The pictures below show Maddie in her various activities as a Rett Princess.  I always tell people "No one wrangles the Princess".  "She is cute - but don't hold it against her".

Maddie Riding her Fav Jude

Maddie riding Joker at hippotherapy

Maddie with Master Miron at Karate - Tonchu

Maddie is a Princess.  She is a Rett Princess! She is poised, beautiful, smart, and effortlessly cute.  She can be your Princess too.  Follow Miss Maddie on facebook for inspirational stories and her cute antics posted everyday by her Mother Jessica. Maddie Rae of Sunshine
If you can donate to Rett Syndrome research to help fund a cure for this horrible disease please do so to any of the following links:
Rettsyndrome.org
Rett Sysndrome Research Trust
Maddies's neurologist said that 10 years ago he thought there would never be a cure for Rett Syndrome.  Now he thinks there will be a cure and hopes it will come soon to help Maddie before damage to her young body is irreversible.

Maddie is an amazing child.  Her struggles from hour to hour and her daily survival astonish me to no end.  She maintains a daily schedule that is tough by adult standards; school, therapies, after school therapy, doctor visits, meals, entertainment, and lots of love.  The day Maddie was born my heart was touched.  My first granddaughter.  Later my heart was broken.  I so wanted to build her a doll house for Christmas.  She can't play with it.  I wanted to bake cookies with her and have afternoon tea?  She cannot hold a cup or exert purposeful hand movements.  Maddie cannot say I love you with words but she does with her speech generating device and with her eyes.  She can put her arm on my shoulder when I hold her in my arms.  That is so comforting and loving.  She is bubbly and happy most of the time. She loves Godiva chocolate, cookies, and Omaha Steaks.  Fortunately, she loves her Grandparents, Mother, Father and big Brother.

Scott R. Mayorga A.A.S., BS MT(ASCP)H CLS