Hero is spelled: Rachel Honeycutt

Paige (right), and Ellie with her hero - Aunt Rachel

Our daughter was born on April 28, 2011, with an extremely rare neuromuscular disease called Congenital Myasthenic Syndrome (CMS).  When she was hospitalized as a newborn for failure to thrive, low muscle tone, and difficulty clearing secretions, the doctors had no idea what was wrong.  After a couple of weeks and many, many tests we were sent home with an NG tube and told to just “hope”.  We spent the following weeks frantically going from specialist to specialist desperate for answers, but no one seemed to have any feeling of urgency for our daughter.  She seemed to make a little bit of progress, though.  She tended to eat better in the mornings than in the evenings. In fact, one morning she even took a full 2 ounce bottle on her own. 

While all of this was going on we continued to see our speech therapist who worked with her on her feeding.  The therapist was especially concerned that she seemed to eat better in the mornings and eat less and less as the day went on.  She felt that was definitely a sign that there was something medical going on that had not been identified.  I was driving home from getting take-out dinner one night and talking to my sister, Rachel, on the phone.  She is a former NICU nurse and at the time she was in school to become a CRNA, so she had been trying to solve this mystery too.  I mentioned the speech therapist's concerns to her - the part about eating better in the mornings.  According to Rachel, a light bulb went off in her head when I said that. She called me back about 30 seconds later and said "Paige, do you ever notice one of Ellie's eyes drooping?"  My heart skipped a beat.  I HAD noticed this before.  In fact, one of the nurses at the hospital had even noticed it.  No one ever acted like it was a big deal, so I just thought she may have a clogged tear duct or something.  I screamed "YES" and she said "Oh my God, I think I know what it is.”  I don’t remember much else from that conversation; I couldn’t even remember the name of the disease.  The only word I could remember was: TREATABLE.  This disease was TREATABLE.  There is a medication that helps the neurotransmitters get the message from the nerve cells to the muscle cells and improves the muscle tone.  In fact, the “gold standard” test for this disease, since it is so hard to diagnose, is to give a trial dose of the medicine and see if the patient’s muscle tone improves.

So that was our turning point.  From then on it wasn't "what?" but "what now?".  We knew we had to get her somewhere highly specialized in neurology because we knew no one around here would have experience with this (it is literally 1 in 1,000,000).  After reading up we learned that the world's leading researcher on CMS, Dr. Andrew Engel, was at the Mayo Clinic in Minnesota.  I called up there, sent them her records, and we got an appointment for August 2.  But that was still weeks away and we did not want to wait that long to get her on the medication (by this point we had ended up back in the hospital a couple times for respiratory issues).  So Rachel went with me to “interview” neurologists until we found one who was willing to listen to us and collaborate with the Mayo Clinic doctors for her care.  He scheduled a test in the hospital to give her a trial of the medication to see how she responded.  That was on July 12, 2011.  We call it her second-birth day because that was the day our baby finally came to life before our eyes.  Rachel was in the room with us and we were all sobbing.  We would later learn that none of the doctors, residents, or ARNP’s who came in to watch the trial believed it would work.  The rest of the day others came in wanting to watch the video and see for themselves.  Since then our daughter has made unbelievable progress.  When she was first discharged (and still undiagnosed) we thought she would probably never walk.  Now at 14 months old she is learning how to walk with the assistance of a walker.  Needless to say if it weren't for Rachel, who knows where we would be. The doctors were all content to leave her undiagnosed, and therefore untreated.  The other children who have this condition often go years before they are diagnosed.  To have a diagnosis this early on when there is no prior family history is unheard of.  Every doctor we encounter always asks us “how in the world did you figure this out”.  You should see the looks on their faces when we tell them “a nurse”!  It was Rachel’s passion, critical thinking, and unwavering devotion (along with a little guidance from God) that got us the answers we so desperately needed.  We are so proud to call my sister, Rachel, Ellie’s Hero.

Paige James is a super MOM of three children, Ellie being her youngest who has Congenital Myasthenic Syndrome.  She is the Program Coordinator of Education and Outreach for Mommies of Miracles and founder of Pumpkin Packs - an entrepreneurial endeavour to provide children with mechanical feeding pumps fun and functional backpacks regardless of ability to pay. 

Hero is spelled: Isaac Pallini

Ella and her hero - her brother, Isaac

While anticipating the birth of our second child, I knew that there would be changes in the dynamics of our little family, but had no idea how many.  Gabriella was born with an extra 21st chromosome, also known as Down syndrome.  When she was born, some of us celebrated, while others mourned.  Our son, Isaac, celebrated the most.  He was nearly three when she was born and until he was 5 ½ he never knew the term Down syndrome.  He just knew that God gave him the sister he had always wanted.  To this day, Isaac is her biggest cheerleader. Although his life has been filled with attending Ella’s therapy appointments and doctor visits, he rarely complains.  He’s the first to stick up for her, the first to recognize her accomplishments and without a doubt, shows the world what unconditional love looks like.  I often look at him and wish that the world would be filled with many more people that have his view on life. Oh what a beautiful world that would be.  Isaac is my hero because he has taught me how to love deeper and celebrate accomplishments, big and small.

Lisa Pallini is one of the original "founding" members of Mommies of Miracles and mom to Isaac and Ella (who has Down Syndrome).  She is a fierce advocate for children with Down Syndrome, and year after year has the largest fundraising team  for the Columbus, Ohio  Buddy Walk.  She is a wife, Christian - who is active in her church, school volunteer, social worker, and avid scrapbooker.

Hero is spelled: Rachel Pettit

Rachel and Ramee

Rachel is my very best friend.  We met online when our husbands were in the Marine Corps together.  We were young wives and we loved the Lord.  Somehow, that drew us together, but now I know without a doubt that God had chosen this friendship for us long before we coulve even breathe air.  Let me explain...

Rachel and her husband were living in Maryland.  After months of trying to conceive their first child, they did!  A baby girl was born 9 months later and Rache was living out her perfect dream.  She had a beautiful new baby, was madly in love with her husband and they had just joined a new church.  One random day, after one thing led to another, Rachel found out that her husband had been having an ongoing affair with a co-worker.  Their baby was 5 months old.  After pleading, begging and everything in between, Rachel's husband packed a bag and left her and their new baby.  Immediately my husband and I asked her to fly to us in Illinois so that we could see her through the most devestating time of her life.

Before we knew it, Rachel and her baby girl were living in our new baby's bedroom.  2 months later, our family was thrust into a journey of unknowns when our 3rd baby (a little girl named Mabel) started showing signs of delays along with seizures, hearing and vision loss and a downward spiral of other complex conditions.  Looking back, it felt like quickly our ability to care for Rache and her new baby was overshadowed by a horrific reality that something was seriously wrong with our baby.  During this time, my best friend rose up from within herself and surrounded me with strength, courage and dedication to our family. 

There was never a time that I had to worry about who would keep my other children while I was at a stressful appointment.  There was never a therapy visit that she didn't sit at my side for the inevitable disappointment and hurt.  There was never a night that went by that she didn't curl up beside me with the laptop and indulge in hours of research and tears.  There was never a time when she didn't love my baby with all that was within her.  As I dove into a time of grief and despair, I saw her slowly coming out of hers.  It was a cycle that lasted well over a year but where I was lacking, she was strong and vice versa.  I believe God had a plan long ago and although I don't believe He caused any of this hurt or any of the unknowns-I do believe He used it for the good by bringing us together.  My husband worked nights and I was never alone...and neither was she.  We had each other-our very own 'God with skin on' to see one another through the most terrible year of our lives.  When she felt angry and betrayed, so did I in much different ways.  When she felt sad and hopeless, so did I.  When she felt tired and weary I rose up and when I felt like dying from sadness, she promised not to let me lose myself in the hurt.

I can never explain the intricate, delicate balance that went on in this house or in our hearts during this time together but what I can tell you is that this friend of mine is a gift.  Everyone in the world deserves the kind of love that she has shown me, and my entire family.  She often says she couldn't repay us for seeing her through that dark time in her life, but in reality it is I who could never have survived without her gentle eyes, knowing smile and uncontrollable laughter. 

Rache and Mabel

Our daughter, Mabel, is still undiagnosed.  She will be 2 years old next month.  Rachel still lives in our small town.  She helped organize our first 5k race last year and will be by my side as we hold our 2nd annual race in August.  She has attended important appointments, held me as I have cried for hours, learned how to navigate a g-tube, seen the worst of the worst and loved me anyway.  She knows how to spot a seizure from a mile away and now even works with special needs children daily.  She overcame the worst, most painful situation and did so with such grace.  She is a wonderful single mom who loves Jesus and loves people well.  She is the hero of my heart and I know God made her perfectly-if only for me. 

I love you, Rache.  More than you will ever know.  This friendship is the best gift I have ever been given and I love doing life with you every day.  You are the beat of my heart, love.  No matter what life throws our way, I feel brave knowing I get to handle it with you.  You are an unsung hero and today I'm singing your praises!

Submitted by Ramee Larson, mom of three including Mabel.  She is the founder of Mabel's Able a support organization for families of children with rare or undiagnosed conditions.  To learn more you can visit: www.rameelinlarson.com

 

Hero is spelled: Judy Smalley

Judy Smalley, Physical Therapist and Owen Birk, age 7M

After a textbook pregnancy and uneventful birth story, we thought our son was born perfect, ten fingers and ten toes, that is all that mattered right?  Shortly after his birth we began our "special needs journey" filled with terror and heartache as his diagnosis slowly started to emerge with each absent milestone, each agonizing delay, each bottle he couldn't swallow, each lacking smile, and the constant irritable scream that still resonates within my soul to this day (five years later). 

During these very early months we were given the opportunity by the county that we lived in to obtain a free home health evaluation by a registered nurse.  This was a standard service for all new mother's regardless of economic status, so we gratefully welcomed the nurse into our home knowing all too well that our son was not following any "typical" developmental pattern - the nurse sadly agreed.  Our son's diagnosis story is a long one, but during the seven months we were working toward discovering that he had a rare brain malformation called polymicrogyria and a genetic mitochondrial disorder, we we fortunate enough to receive in home early invention services with included a variety of therapies, one of which was physical therapy which is where the very first hero of many walked right into our front door.

Hero is spelled: Judy Smalley because she was one of the very first of MANY people who would be involved in Owen's life not only as a therapist but as a cheerleader, and in my life as a friend and confidante.  Judy has the heart of a mother which she intertwines with her deep rooted Christian beliefs and a holistic therapy approach that includes body + mind + spirit = good health.  The early days of my sons life are blurry - at best - where the days and nights were one in the same.  There were non-stop tears from all parties in our family.  The heartache was indescribable.  The one constant positive force in our lives during that time was Judy.  I looked forward to her knock on our door, because she brought smiles and conversation into a place of isolation and grief.  My time with Judy was as therapeutic as the time she spent with Owen, and I am so very blessed to call her a friend even to this day.  When Judy would enter our home it was the one time each week where Owen would stop crying, focus his attention on Judy, and enjoy the gentle and healing touch she provided to his fragile body.  After she would leave our home, Owen would sleep without issue and experience several hours of lingering "peace" - this was nothing short of a miracle for a child with a high pitched and constant neurological cry that would sting the ears of anyone who heard it.  It was as if Judy had a way of telling him "everything is going to be okay" and she could magically wipe away his pain with just her touch.  She also had a way of wiping away my pain by sharing the stories of her experiences with other developmentally delayed children over the years, and how on many occasions she had witnessed them achieving far beyond anything ever predicted.  Judy not only brought healing and peace into Owen's life, she brought it into mine.  She was able to assure both Owen and I that we were going to be okay no matter what was headed our way, and I am happy to report she was right. 

When Owen turned three years old he was transitioned out of early intervention services, and out of the Judy's care.  It was a truly sad time to leave her, and the entire "EI" staff behind but she will always be that ONE bright spot in the early months of agonizing grief and worry, and the one person who gave us hope when there was no hope available. 

Judy Smalley, you are our hero of hope and always will be.

Anita Birk, mother of five year old Owen, is Founder and Executive Director of Mommies of Miracles.