She Is My Child: What My Daughter’s Medical Journey Taught Me About Faith, My Heavenly Father, and Flying Standby

By Tammy Coulter

In 2007, fourteen-month-old Ava was diagnosed with Morquio Syndrome, a rare, progressive, genetic disorder for which there was no treatment. The jarring news left her mother Tammy reeling and wondering what the future held for her daughter. As the days following the diagnosis blurred together, Tammy saw two paths before her—fall apart or fall into the arms of the Lord. For a time, she did both, struggling with her emotions one moment, feeling God’s peace the next, all while continuing to care for her young family. Slowly, through near-constant prayer and Bible study, her burgeoning faith grew stronger than her fear and distress, leading her to a path she hadn’t seen—one that would test her even more and offer help for Ava.
In She is My Child, Tammy Coulter shares her spiritual journey, alongside Ava’s physical one, from diagnosis to surgeries to a long-anticipated Morquio clinical trial that had them flying to Chicago every week for more than two years. She reveals the most difficult moments and the greatest victories, as well as the humorous situations she and her daughter so often encountered, while highlighting God’s provision and what He taught her along the way.

• Language: English
• Publisher: WestBow Press
• Release date: Jun 7, 2022
• ISBN: 9781664265257

Tammy Coulter

Tammy Coulter graduated from the University of Alabama in Huntsville with a communication arts degree and a certificate in technical communication. She was a technical editor until the birth of her son, when she became a stay-at-home mom. After the birth of her daughter, her role expanded to include researcher, student of the Psalms, and full-time prayer warrior. Tammy lives in Madison, Alabama, with her husband, two children, and their Jack Russell terrier.

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WestBow Press rev. date: 6/3/2022

Some content taken from Finding God in the Land of Narnia, by Kurt Bruner and Jim Ware, copyright © 2005. Used by permission of Tyndale House Publishers, Inc. All rights reserved.

Some content taken from Angels: Ringing Assurance that We Are Not Alone, by Billy Graham, copyright © 1995 by Billy Graham. Used by permission of Thomas Nelson. www.thomasnelson.com

Some content taken from Streams in the Desert, by L. B. Cowman, Copyright © 1997 by L. B. Cowman, ed. by James Reimann. Used by permission of Zondervan. www.zondervan.com

Some content taken from Between a Rock and a Hard Place, by Dr. Tony Evans, copyright © 2010 by Tony Evans. Used by permission of Moody Publishers. www.moodypublishers.com

This book is dedicated to my family. I will be forever grateful for their love and support.

To my husband Greg, whose kind, loving, and thoughtful nature brought needed calm to the more frenzied days.

To Grant, our remarkable son, who maintained his steady outlook and fun personality through all the changes that came our way.

To my mother, Mary, who gave of her whole self to love on, support, encourage, and entertain us through everything we encountered.

To my bonus dad, Al, who stood at the ready for anything we needed, a continuation of the love, support, and fun he has infused into our lives over the years.

And to Ava, my mighty warrior princess, who bravely handled things that would strike fear into many adults. Her tenacity and humor helped me through each and every day.

Praise be to the God and Father of our Lord Jesus Christ, the Father of compassion and the God of all comfort, who comforts us in all our troubles, so that we can comfort those in any trouble with the comfort we ourselves receive from God.

—2 Corinthians 1:3–4

Acknowledgments

So many people, both individuals and those within organizations, were a part of our journey that it may be impossible to name them all, but I want to offer a special thank-you to those listed here. You made our lives easier and richer through your efforts.

I would first like to thank BioMarin Pharmaceutical Inc. for developing a drug to treat Morquio syndrome. We are so grateful for their efforts and expertise, and the incredibly kind people who helped us through each stage of the clinical trial and beyond.

I would also like to thank Ann and Robert H. Lurie Children’s Hospital of Chicago, including our study coordinators, Rachel, Paul, and Charlotte; Monroe Carell Jr. Children’s Hospital at Vanderbilt; and Huntsville Hospital for Women and Children. The care Ava has received at all three hospitals has been superb.

A huge thank-you to the wonderful people at Mr. Chauffeur in Chicago, the car service we were blessed to use each week. They made travel within the city a much better and more fun experience.

I may have complained about delayed and cancelled flights along the way, but I know that without our pilots and flight attendants, this journey would have been exceedingly more difficult. I offer a huge thank-you to all of them.

A special thanks to all of the doctors and nurses who have played such an important role in Ava’s care through the years, including Dr. Brendan Lanpher, who first diagnosed Ava and did so with compassion; Dr. Barbara Burton, who oversaw the clinical trial at Lurie Children’s and provided wisdom and encouragement to us along the way; Carolyn, Chris, Gina, and MK, the nurses at Lurie Children’s who so lovingly cared for Ava and others (including me) as if they were their own children; Dr. Scott Denny, Ava’s wonderful pediatrician, who always knows the answers or where to find them; Dr. Matthew Pearson, Dr. Jeffrey Martus, Dr. Jonathan Schoenecker, and Dr. Chris Stutz, who all assisted Ava surgically at Monroe Carell Jr. Children’s Hospital at Vanderbilt; the hospitalists and nurse practitioners who now visit Ava each week as she gets her infusions; and Annie Thorpe, Ava’s current nurse extraordinaire, who provides fun, energy, and solid medical care every week.

Finally, a thank-you to our extended family and friends who prayed for us through this journey. Those petitions before God’s throne gave me strength and comfort, and even now help me to go before His throne with an even greater fervor on behalf of others. You are so appreciated and loved.

Contents

Chapter 1     Gifts from Heaven

Chapter 2     Can You Repeat That?

Chapter 3     Coming Up for Air

Chapter 4     Chasing Rainbows

Chapter 5     Of Battles and Kings

Chapter 6     Wearing Out the Judge

Chapter 7     Butterflies and a Back Brace

Chapter 8     Angels and Halos

Chapter 9     On Pins and Needles

Chapter 10   Rumors

Chapter 11   Tea and Thee

Chapter 12   MORCAP in December

Chapter 13   Just for Laughs

Chapter 14   Sun, Snow, and Life Everlasting

Chapter 15   The Screening

Chapter 16   And So It Begins

Chapter 17   The Real Deal

Chapter 18   He Gives Me Wings

Chapter 19   Through the Fire

Chapter 20   Lost and Found

Chapter 21   Safe Passage

Chapter 22   With Full Hearts

Chapter 23   Faith in All Things

Chapter 24   Heart to Heart

Chapter 25   At Least There’s Icing

Chapter 26   Be Still and Know

Chapter 27   A New Thing

Chapter 28   Leading the Blind

Chapter 29   Best Friends Forever

Chapter 30   Spring Arrives

Chapter 31   Lord, Work in Me

Chapter 32   Farewell, Lincoln Park

Chapter 33   Directions

Chapter 34   Birthday Bash

Chapter 35   Feeling Down and Out in Chicago

Chapter 36   Love Your Neighbor as Yourself

Chapter 37   On the Upswing

Chapter 38   Here’s to Friends, New and Old

Chapter 39   What about Friday?

Chapter 40   Lights, Camera, Action!

Chapter 41   The Travail of Travel

Chapter 42   Manna from Heaven

Chapter 43   The Best-Laid Plans

Chapter 44   Bronco in the Sky

Chapter 45   The Terminal

Chapter 46   Between a Rock and a Hard Place

Chapter 47   A Singing Star, Ordinary Women, and Alligators

Chapter 48   Grumpy Me, Grumpy Gladys

Chapter 49   That December in Chicago

Chapter 50   Subway and the Shining (Say What?)

Chapter 51   Old Man Socks

Chapter 52   Baby Steps

Chapter 53   Finding Elephants and Courage

Chapter 54   The Pink Carpet

Chapter 55   Mercy Me, That’s All Folks

Chapter 56   New Beginnings

Chapter 57   Still Going Strong

The ABCs of Salvation

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Gifts from Heaven

You will keep in perfect peace those whose minds

are steadfast, because they trust in you.

—Isaiah 26:3

His name was Justin. I had wanted a sibling for so long, and finally, there he was, squirming and grunting and smelling of heaven’s freshness. Wrapped snugly in his soft blankets, he didn’t announce his displeasure of anything with the typical, measured crying of a newborn but with a more mellow, albeit high-pitched, squeaky cry that made him all the more adorable. He had ten fingers and ten toes—all tiny, all precious. He also had hydrocephalus.

I had grown up a perfectly happy only child for ten years but had often voiced my wish for a little brother or sister. Most of my friends wondered why I would want to upset such a perfect arrangement, but I was thankful when Justin arrived just days before Christmas in 1980—an early gift. Despite his hydrocephalus—a condition in which there is an abnormal accumulation of fluid around the brain—I thought he was the most beautiful baby God ever formed. To me, he was different only in the sense that he was my brother and there would never be another like him. He was supranormal. His larger-than-normal head didn’t unnerve me. It simply made me want to protect him against any stares or unwelcome comments. At my age, I certainly didn’t know all the ramifications of his illness—that it could lead to convulsions, mental disabilities, and even death. All I knew was that we had a new baby in our house, and I loved him.

One evening a month later, with Christmas and New Year’s in the rearview mirror, I was on the phone with a friend when my mom came to tell me that my aunt had arrived to stay with me so that she and my dad could take Justin to the hospital. Given his condition, it didn’t seem unusual to me, so I nodded in understanding and waved as they left, continuing my conversation. In my childish naivete, I assumed it was no big deal—just some issue with his illness that needed attention. It took them a long time to get home, and I fell asleep, never knowing what time they finally returned. The next morning, my dad came into my room and sat on the edge of my bed to tell me the news.

I cried out of both grief and guilt. If I’d only known that Justin wouldn’t be coming back home, I would have immediately ended my very unimportant phone conversation the evening before and begged to go with them. I would have kissed his forehead one last time. Caressed his long fingers. Hugged him. Allowed myself to drink in a mental picture of him that would last me forever. But that’s how it is. So often, we never know the last time something will happen—the last time our children will sit in our lap, the last time we will ever visit a favorite spot, the last time we will kiss a loved one goodbye.

Justin lived exactly one month, and as excited as I was at his arrival, I was even more devastated at his leaving. At home, in the room just across from mine, a yellow teddy bear that played sounds from the womb sat silently in an empty crib. My brother’s tiny clothes, so soft and sweet-smelling, remained shut away in drawers, never again to warm him.

While my parents were of one accord in their devastation, each traveled a separate road of grief. Mom, who had become a Christian years before and was well-rooted in her faith, took her heartache to God and laid it before Him, raw and unfiltered. She also drew support from family and friends, particularly precious church friends—ladies who prayed with and for her. Dad, on the other hand, was a brand-new Christian and, not being rooted in his new faith, suddenly found it difficult to understand a God who would allow his newborn to die—his only son, whom he would never get a chance to know.

I wouldn’t say I was angry with God for taking the sibling I had wanted for so long, but it didn’t seem fair to me. I wondered why Justin didn’t get the chance to have a longer life. Why had he been born the way he was? Why did we have to lay hands on a casket so small it didn’t seem right that it should even exist?

To this day, I think about what Justin might have been like without his medical problems and about the trouble the two of us might have cooked up together over the years. After all the time that has passed, I still remember, still miss, still wonder, but I am okay. I know where Justin is, and I know that because I have a relationship with Jesus, I will see him again when I get to heaven. As King David said in 2 Samuel 12:23 after the death of his infant son, Can I bring him back again? I will go to him, but he will not return to me. David knew that he would not be separated from his son forever. His child had gone to be with God, and David knew that one day he would too. While the grief from loss remains, there is such great comfort as a Christian in knowing it is not a final good-bye.

I was also comforted by a poem our pastor read at Justin’s funeral:

They Would Not Wish Him Back

                    The golden gates were open

                    And heavenly angels smiled

                    And with their tuneful harpstring

                    Welcomed the little child.

                    They shouted, "High and holy,

                    A child hath entered in,

                    And safe from all temptation

                    A soul is sealed from sin."

                    They led him through the golden streets

                    On to the King of kings,

                    And a glory fell upon him

                    From the rustlings of their wings.

                    The Saviour smiled upon him

                    As none on earth had smiled,

                    And Heaven’s great glory shone around

                    The little earth-born child.

                    On earth they missed the little one,

                    They sighed and wept and sighed,

                    And wondered if another such

                    As theirs had ever died.

                    Oh! Had they seen through those high gates

                    The welcome to him given,

                    They never would have wished their child

                    Back from his home in Heaven.¹

Though I can’t speak from experience, being a mother myself now, I think I can say with certainty that a parent’s heart never fully recovers after the loss of a child. But while my mom would continue to hurt over losing Justin, she managed to move forward and live a happy life, knowing that Justin was indeed with God. Dad? Well, he learned to cope. I knew every Christmas brought some sadness to his heart as he remembered his boy and the anticipated experiences that never materialized. Unlike King David, he seemed forever haunted over losing Justin, unable to rest in the knowledge that as much as we wanted him with us, Justin was with God, fully healed. But then I couldn’t blame him for how he grieved or for how long he grieved so deeply. After losing someone you love, there is no correct way or length of time to grieve hard. We all do it in our own ways and in our own times. I guess, in the end, we all learn to cope. It’s just how we do it and to whom we turn that can help us in doing so.

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When my husband, Greg, and I first talked about having children, my mind strayed to Justin and left me wondering whether any children we had might suffer the same devastating problems with which he was born. Naturally, I was thrilled when I learned that our first child was on the way, but each ultrasound found me a mixed bag of emotions—so excited to see our baby, yet wondering if those silent technicians, who never seemed to give anything away, knew something awful that I didn’t. Thankfully, the regular ultrasounds, as well as the 4D, showed our baby to be a fully healthy child in every way.

Our son, Grant, was born early one summer morning in 2003. I won’t say I didn’t consider naming him Justin, but I thought it best not to have that name so constant in either of my parent’s minds and, even better, to give Grant his own special name.

He thrived, becoming a rambunctious toddler with auburn hair, the energy of a Jack Russell terrier, and the confidence of a dictator (though his efforts toward the latter position went down in a blaze of short-lived glory). To put it simply, he was the most amazing toddler any parent ever had at any time in history up to that point, with the noted exception of Mary and Joseph of Nazareth.

We so enjoyed watching him grow and learn new things—rolling over for the first time, getting his first tooth, saying his first word, taking his first steps, moving to a toddler bed, and saying and doing so many funny things. It was all happening so fast I almost couldn’t keep up, but whenever I could find a few minutes each day, I would write about it all in a journal I began keeping for him when I learned he was on his way. I don’t know how many pages I filled during his first two years of life, but I’m sure Tolstoy would have been proud. I know I was, because I might never have remembered some of those things had I not been able to read about them again later. Other things I will never forget—like that day in our front yard, just Grant and me, the sun so warm on our skin, the trees and flowers blooming. As we surveyed the yard for bees and bugs, I noticed him checking out the older kids playing soccer in the yard across the street and could see how very much he wanted to join them. As a stay-at-home mom, I was his primary playmate, which he found satisfying most of the time. Of course, he also enjoyed spending time with all the children in the nursery at our church each week. But on that day, he seemed to understand there was more out there: something beyond his regular routine—other children playing other games with little ones just like himself. And, for reasons I can’t explain, that moment of watching him watch them solidified my desire for another baby: a brother or sister for Grant—another gift from God. I tousled his hair and smiled, dreaming of a bigger family filled with even more fun and love. I just as quickly accepted that more than one child opened the door for arguments, more messes, and more snot. But how long would those things last? Three, four, eighteen years? What really mattered was having another little one to love and nurture, and siblings who would have each other for the rest of their lives—who would irritate each other without remorse and yet protect each other fiercely. At least I hoped that was how it would work. It was how I had always imagined it.

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A few months later, I began a new journal:

I found out today that you are on your way! Daddy and I are so happy. Your brother Grant will love having you to play with. I am praying that everything goes smoothly during my pregnancy and that we both remain healthy and strong. God is so wonderful, and we are so thrilled and blessed that He has chosen us to be your parents. I haven’t felt very sick yet, and maybe I won’t, but I have had just a touch of queasiness. Oh well, all part of the process in getting you here. We love you, Little One!

That whole not-very-sick part didn’t last long. I think before the ink dried on that journal entry, I was ready to be knocked out with a mallet for the remaining eight months. I had been queasy with Grant the first few weeks but was otherwise fine. A few well-timed saltines and all was well. With this baby, I soon began looking into the possibility of a twenty-four-hour Phenergan drip. Of course, that didn’t happen, but it wasn’t because I didn’t put in the research.

Not only was I sick for much longer, but my diet was completely different as well. With Grant all I had wanted to eat was meat and potatoes, while all I wanted during this pregnancy was anything sweet. It didn’t matter what—Pop-Tarts for lunch, waffles for supper, Twinkies as a before-bedtime treat. Okay, the Twinkies were a one-time deal. I threw them up just before bed that night and have never wanted any since (my apologies to the Hostess company). The point is, when we found out we were having a girl, I wasn’t surprised. In fact, I was expecting to hear it, since my pregnancy with Grant had been so very different, and because my Aunt Ruby, who had been pregnant with twin girls before I was even born, assured me of it.

While another boy would have been just as welcomed and loved, we were tickled pink to find out we were, indeed, awaiting a little princess. Of course, by that time, I was so used to dinosaurs and cars and trains that I wasn’t sure I would know what to do with all things dainty; but I was definitely looking forward to the sweet little dresses I had been eyeing in the stores, right along with all the other items a little girl would need. There was no getting away with just shirts, pants, shorts, and tennis shoes, which had been easy with my little guy. Nope. In addition to shirts, pants, shorts, and tennis shoes, we were also looking at dresses and skirts and tights and hair bows and shoes for all occasions. Thinking about it all, I was thankful that when babies are born, they don’t arrive with their own luggage. Delivery is hard enough as it is.

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Our beautiful daughter, Ava, arrived on a sunny summer morning in 2006. As far as her resemblance to Grant, she looked nothing like him and just like him. They had the same newborn face and the exact same birth weight, but where Grant was born with a head full of auburn-colored tresses, Ava had almost no hair to speak of, save a long strand of golden locks at the very top of her head that waved to us whenever she moved.

I wasn’t nearly as nervous taking her home from the hospital as I had been with Grant. You see, I had never taken care of an infant prior to him, so when we first took him home, leaving all our nursing expertise behind, I was a tad concerned for the little guy. I had read all the books and watched every baby show known to man, but when you’re alone and face-to-face with a crying, squirmy, eight-pound wonder, you begin to have a few doubts—like maybe you could handle guerilla warfare better than bathing your infant for the first time. However, instinct kicked in, and after a bit, Greg and I realized we would be just fine in all aspects of infant care. So with experience under our belt, we confidently carried Ava into her new home. No worries. Her care would be a repeat of everything we had done for Grant, only easier, because we had been there and done that. Boy, were we ever wrong.

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Can You Repeat That?

When anxiety was great within me, your consolation brought me joy.

—Psalm 94:19

Greg, come here, please! I called to my husband as I sat beside the bathtub watching nine-month-old Ava, who was happily splashing her toys in the water encircling her. Does that look odd to you? I asked, when he walked into the bathroom. I pointed to the lower portion of Ava’s back, which seemed to curve outward more than it should have. He studied it briefly but was no more certain than I was that anything was amiss. Certain it must be nothing, I made a mental note to ask her pediatrician about it on her next well-checkup visit. Until then, I didn’t let it bother me and simply enjoyed my newly expanded family.

It had taken some time getting used to having a new baby and a three-year-old. With one baby, you can sleep when he or she does. With a toddler in the mix? Not so much. Fortunately, Grant was wonderful with her and didn’t appear to be jealous of the time and attention she took. From the very beginning, he had an interest in her. One day during my pregnancy, he felt her kick. He then rubbed my belly and said, Let’s pat ’er back, as though she were patting him to say hello and he wanted to reply.

He kept it up once she was born. If she began to cry, he would get right in her face and say, It’s all right, sweetie! And once, at the store, a little boy started crying in the lane next to us because he didn’t get something he wanted. His crying woke Ava up, and Grant proclaimed, He woke her up! He woke her up and made her cry! That makes me not happy!

As the first few weeks and months passed and we got into a routine, things got easier and Ava began to show more of her developing personality. The two of them were a hoot, and for some reason, Grant took to calling her a little comb-hair. I had no idea what it meant (still don’t), but it tickled me. They both continued to grow, thrive, and meet their milestones with no worries, which was why, at Ava’s nine-month checkup, I was still convinced that nothing was wrong when I pointed out the curve that had initially concerned me.

After examining her, Dr. Denny surprised me by saying he thought it warranted closer inspection, suggesting I take her to a pediatric orthopedic doctor. I wasn’t expecting that and was still a bit stunned when, just before we left, the nurse provided me with an appointment time to visit that doctor a few days later. Something like that had never happened before. Grant had a bit of jaundice when he was born, for which we had to take him to have blood drawn a few times from his tiny newborn foot. That had been traumatic enough, and I understood what to expect, but I didn’t know what to make of this.

When the day of the appointment rolled around, I sat in the waiting room and studied my surroundings. It felt strange to be in an orthopedic office. I had never had occasion to be in one before, and I certainly didn’t like being in one for one of my children. Had it been for me, I would have handled it much better and not been nearly as anxious. Ava sat in my lap, having no idea what would be required of her. Not yet completely independent, she cruised back and forth while holding on to us and the chairs, her blond hair growing in more each day, though she wasn’t quite to the point yet at which she began to look exactly like Cindy Lou Who from How the Grinch Stole Christmas.

Greg appeared calm, as men tend to do; however, my legs bounced up and down quickly and repeatedly as if I were trying to warm myself. Everything is fine, I thought as we waited for them to call Ava back for X-rays, which she liked little to none once they did. Who could blame her? I can only imagine what all those big machines must have looked like to her one-year-old eyes. It was unlike anything she had ever done, which must have been so frightening, despite the kindness of the X-ray techs. My heart broke as she cried. I scooped her up as soon as they were finished and did my best to comfort her as we all went back to a room to wait for the doctor to speak with us.

After examining Ava and studying her X-rays, the orthopedic doctor told us she had something called kyphosis, which is what caused the curve I had noticed along her back. Like scoliosis, kyphosis is a curvature of the spine, but the two differ in the direction of the curve. The doctor was a bit stumped, though, informing us that kyphosis typically accompanies other things, such as dwarfism. Ava’s limbs were all in normal proportion, and he saw nothing else abnormal. He had no idea why she had it, and apparently, there had to be a reason for it, kyphosis being a symptom of something larger. He asked us to return in three months, but in the interim, he wanted her to see a geneticist to determine whether we could pin down exactly what was going on.

A geneticist? I thought, feeling a bit panicked. We just came because of a back issue. Why would she need to see a geneticist? I feared she might need a back brace, but why must we see yet another specialist? Just fix this!

We had our choice of Children’s Hospital of Alabama in Birmingham or Monroe Carrell, Jr. Children’s Hospital at Vanderbilt in Nashville, Tennessee. Both are excellent hospitals with excellent doctors, and both are about ninety minutes from our home, one directly north and one directly south. We decided to take Ava to Vanderbilt since we traveled through Nashville quite a bit on our way to visit family in Kentucky and knew the area a little better than we did Birmingham. In short order, a nurse made an appointment for us and we left. I was still anxious about the whole thing, but we had to do what was best for Ava, and if seeing a geneticist might be helpful, we would certainly do it, though what in the world one could tell us I couldn’t imagine.

I tend to research things to death. Just like when I researched what to expect with a new baby when I first learned I was pregnant, I made a beeline for the computer as soon as we got home to learn more about kyphosis. I soon found the name of a doctor who had a special interest in kyphosis, and lo and behold, he just happened to be a pediatric orthopedic doctor at Vanderbilt. I called to make an appointment with him for a second opinion and was able to get one on the same day we were to visit the genetics office. The evening before we left, I sent out an email to friends and family:

We are taking Ava to the children’s hospital at Vanderbilt in the morning, where she will see two different doctors. She will first see a pediatric orthopedic doctor for a second opinion on any treatment or information regarding her kyphosis diagnosis from the doctor here. She will also be seeing a geneticist to determine whether she fits into any kind of syndrome. The doctor here recommended this appointment since he doesn’t see other things he typically sees with kyphosis. I think he will be more comfortable if she fits into some grouping. Please pray for us as we travel, for the doctors as they examine her, and that we will find out everything we need to know.

Greg and I are both Christians. We come from Christian families, and we were involved in a church with the most loving people we could imagine. That night, I was so thankful for all our friends and family who would help us shoulder this unexpected malady through petition before the throne of God. I had prayed for others over the years, but I don’t think I ever really understood until that moment what it is like to be on the receiving end and how precious it is to have others call to God on your behalf.

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On August 22, 2007, we drove to Vanderbilt with Ava, who by then was fourteen months old. My mom, Mary, and my bonus dad, Al (a.k.a. Meme and Pops) took care of Grant at their home in Scottsboro while we were gone for the day. He was four years old and all boy, so we knew we wouldn’t be able to fully focus on what the doctors had to say if he went with us, and he certainly would have more fun being doted on by his grandparents than sitting in a hospital.

Our first appointment that day was with Dr. Green, the orthopedic doctor. He was a kind-looking man, grandfatherly in his manner, who whistled in funny ways to entertain Ava and make her smile. I liked him immediately, which calmed my nerves as much as they could be. We had arrived with the X-rays from Ava’s appointment in Huntsville, hoping Dr. Green could review them so she wouldn’t have to endure any additional ones while we were there. After looking them over and examining Ava, Dr. Green sat down on the little black stool that comes standard issue in every doctor’s office and looked at us, his white hair adding to his already present air of authority.

I don’t believe she has any kind of syndrome, he finally said. She might need to wear a back brace for a while, but I don’t see anything wrong other than that.

A silent sigh of relief escaped my lips as I listened further, straining to catch his every word. As he talked with us, he pointed to one of the X-ray images illuminated by a lighted box hanging on the wall and mentioned something about Ava standing. Greg and I looked at each other, then at him, before Greg said, She’s never had any X-rays standing up. Dr. Green seemed a bit surprised and said he would really like to see some images with her in a standing position, so though we thought she had escaped further X-rays, we carried her to yet another imaging room. Ava was unimpressed once again and cried throughout the entire process, and once again I couldn’t blame her. We did our best to reassure her and let her know it wasn’t going to hurt, but she wasn’t buying it. I was still trying to understand what difference it would make for her to be standing for an X-ray rather than lying down, but I probably wouldn’t have understood it if he explained it to me anyway. When it was over, we were ushered back into the room to await Dr. Green.

I don’t remember whether Greg or I said a word as we sat there. We were probably too uneasy, wondering what this new piece of the puzzle might reveal. When Dr. Green entered the room this time, he was somber—no funny whistling, no smiles—boosting our level of anxiety before he uttered a word.

I believe she has this, he finally said, and wrote something on a piece of paper that he subsequently handed to me. The word was mucopolysaccharidosis. He pronounced it. We tried but unsuccessfully.

What is it? I asked, expecting to get some overview that would give me an idea of what we might be facing.

Take that paper to Dr. Lanpher and tell him that’s what I think she might have, he replied.

Is it bad? I prodded.

Just take that to Dr. Lanpher, and he can tell you more, he said, deflecting my question yet again. By that point, I was more than a little anxious. I was downright terrified and not sure what to expect from the geneticist we would see next.

Now armed with Ava’s old and new X-rays and an unpalatable word on a sheet of paper, we headed for the next appointment with Dr. Lanpher. It was a short, silent, elevator ride up to the sixth floor from the fourth. We signed in at the genetics clinic desk, filled out the necessary paperwork, and sat down to wait. Before long, a nurse called us back and took us to a room where she checked Ava’s vitals and got her height and weight. I’m sure we looked at each other helplessly when she asked why we were there that day. I may have even pushed the crumpled piece of paper still in my hand toward her; I don’t remember.

Settled in a room for the third time that day, we waited. When Dr. Lanpher entered, he gave us a warm greeting before acknowledging our visit with Dr. Green and the new X-rays that had been taken. He then began to examine Ava, looking for symptoms of this new-to-us term, mucopolysaccharidosis (MPS). She quietly accepted his poking and prodding, during which he noted that she was flexible—but not too flexible, which was good—and that she had no corneal clouding. We were glad to hear all of that but still lost, not understanding what it all meant.

When he completed his examination, he told us that he agreed with Dr. Green’s findings. He believed Ava did have a form of MPS, a rare genetic disorder. I also remember the term bone disease being used at some point. Apparently, both Greg and I unknowingly carried the gene for this disorder and Ava had inherited that particular gene from each of us. Had she inherited just one, she would have only been a carrier, as we are.

Dr. Lanpher explained that MPS was an umbrella term for several different forms of disorders called lysosomal storage diseases. They are called storage diseases because the patient’s body does not produce a certain enzyme that, in everyone else, rids the body of long chains of sugar molecules. Without the enzyme to get rid of them, those molecules build up, or store, in bones and tissues in the body. According to an information sheet we were provided, this storage results in malformed bones and a host of other possible ailments, including short stature, mildly coarse facial features, hearing loss, corneal opacities, valvular heart disease, restrictive lung disease, flaring of the rib cage, prominent sternum, liver issues, kyphosis, scoliosis, and pelvic problems. These disorders are progressive, so as the patient gets older, the symptoms worsen. Some of the MPS disorders also result in cognitive impairment. Yeah, we weren’t expecting that. Not any of that at all. Imagine getting kicked in the gut by the heaviest, strongest horse you’ve ever seen. Then imagine his much bigger daddy coming after him and kicking you while you’re down. It was worse than that.

Dr. Lanpher went a step further and told us that he believed Ava had MPS IVA, or Morquio syndrome, which is estimated to occur in one out of every two hundred thousand births. The silver lining was that, unlike some of the other MPS disorders, Morquio patients do not have cognitive problems. Their issues are strictly physical.

If you have to have a type of MPS, he told us, you want it to be Morquio.

Of course, he couldn’t be sure it was Morquio until they performed the necessary tests. For those they needed blood and urine samples from Ava. Dr. Lanpher told us that with MPS there would be an increase in the level of something called keratan sulfate in her urine, but it would take several weeks to receive the results.

As we tried to digest all the new and completely foreign information being provided, we naturally wondered about our options, but any hopes we may have harbored were soon dispelled.

Unfortunately, there is no treatment for Morquio, said Dr. Lanpher, as if able to read our thoughts. We just have to treat the symptoms as they come along.

While there were treatments called enzyme replacement therapies (ERTs) for a couple of the other MPS disorders, there had never been one for Morquio. Upon hearing this, I realized that despite the fear of hearing the diagnosis, it would have been so much more encouraging had Dr. Lanpher been able to follow up his preliminary diagnosis with, but there is a treatment for it, and she should start right away if we find out for sure that it’s Morquio. Unfortunately, we didn’t get that, although he did believe that Ava’s generation would be the one to see such a treatment.

While we were still trying to get our bearings, Dr. Lanpher left the room, and the genetics counselor came in to go through information that detailed any possible problems Ava could encounter with a diagnosis of MPS—any MPS disorder, since we weren’t yet guaranteed it was Morquio. In that moment, her monotone reading sounded cold. Of course, looking back, I now understand this was a routine part of her job and, like a doctor, she couldn’t let emotion take over. But the fact that she was relaying a seemingly unending list of medical issues and not pausing to make sure we weren’t melting into the floor as she did so made it feel as if there wasn’t much in the way of sympathy for what we were learning about our daughter, especially since everything she named made it seem as though we were hearing a medical dictionary front to back. Trying to understand and cope in a rational manner with everything she called off was more difficult than I can put into words. I probably even shut out part of her list. Of all the problems we had been told about earlier, it was the thought of cognitive impairment that was almost debilitating to me. I couldn’t even truly process the fact that my sweet girl may not grow and learn new things throughout her life. But when the counselor mentioned the term life-limiting, it was just about more than I could take. Life-limiting? Lose my baby? Lose this blue-eyed angel with a smile far more fanciful and mysterious than a thousand Mona Lisas? I couldn’t move or breathe. Had I done so, the world surely would have collapsed in on itself.

When the counselor left the room, tears of disbelief, fear, confusion, agony—indescribable tears—began to flow. What was happening to my neat and tidy regular little world? This wasn’t how it was supposed to go. Yes, life has ups and downs, but not this!

I managed to regain my composure before a nurse returned to draw Ava’s blood and collect some urine. I wasn’t sure how the second part of those orders would be managed. With fourteen-month-olds, it’s hard to get an on-demand performance for that kind of thing, but after they fitted her with a little plastic bag—a urine catcher, you could say—we got her to drink something, and we waited. And waited. And waited. When they finally got enough to test, we were ready to leave. Dr. Lanpher said he would let us know as soon as he got the results, which would take at least a couple of weeks. I figured that was just enough time for me to completely lose my mind. In fact, it probably wouldn’t take that long.

I held up once again as we walked out of the genetics office and tried to maintain my cool, though my red eyes and the tracks of earlier tears etched into my makeup were enough to let anyone know that something wasn’t quite right.

I decided to focus on driving us home so I wouldn’t concentrate too much on everything we had just learned, which, oddly enough, did not involve the dreaded back brace we’d been so afraid of upon arriving. That morning, a back brace had seemed like the worst thing in the world. By the time we left, it would have been a dream come true compared to what we were given. As it was, we had just been pushed into a whole new world—a world where concern over the health of our child, her physical and mental growth, had suddenly thrown us into a moment-by-moment streaming of vile possibilities and unknowns. How could I think about anything else? How would I function for the good of Greg, Grant, Ava, our home, myself? How was I to get over the stifling grief and continue to do all the things a mom does for her family each day?

As I drove home, my mind continued to wrap itself around something we still didn’t know for sure that she had. And if she didn’t have it, what did she have? And would it be better or worse? My girl! My precious little girl, who sat behind me in her car seat, happy in her own little world, with no idea of the pain and anguish in her parents’ hearts. I was glad she was so small and didn’t know anything was amiss. Everything was fine for her that day, and for that I was grateful.

I cried all the way to Scottsboro, where we went to pick up Grant, but by the time we pulled into the driveway, I had stopped. I wanted to look and be strong when I saw Mom and Al. I don’t know who I thought I might be kidding with my eyes practically swollen shut.

They came to the door with a smile, ready to greet us. Neither of them said anything about my appearance. Instead, Mom simply took Ava from my arms, laid her on a bed, and began to change her diaper. Perhaps that was to keep busy while waiting to hear something she knew couldn’t be good. As she worked, I just laid it out for her in what I’m sure was a confusing, muddled mess of words.

Ava has a bone disease, and she could end up in a wheelchair or have developmental issues or even have an early death. And the tears started once again.

Being a stronger person than I could be at that point, Mom told me we would pray about it and reminded me that God was in control. I was amazed, maybe even confused, at her strength. She never cried, despite such unexpected and jarring news, while I was a hot mess! The email she sent me the next morning not only explained her emotions but also challenged me to redirect my focus from fear to faith.

Thursday, August 23, 2007

Tammy,

I wanted to write this to you because I would become a blubbering mess if I called you, and all my thoughts would not be in order as they occurred last night.

After you all left, I went on to church, and after the service, the pastor read our prayer list and asked if there were more to be added. I told him about Ava’s diagnosis and the tears began to flow and I could not stop them. After we were through, several people asked about Ava and said they would keep us all in their prayers.

When I got home, I cleaned up the kitchen—you know how you have to keep busy—and prayed and wept. Then I went upstairs and got out my book by Kay Arthur, Lord, Give Me a Heart for You. I immediately calmed down and began to feel secure in God’s presence again. I asked Him for peace and faith for you and Greg to get through this, and then I fell asleep. I awoke with this terrible feeling of dread and all that I could hear was, She has a bone disease. It gripped me with a fear that I haven’t known in a while, but then as quickly as I heard it and felt the fear, I realized it was from Satan because God doesn’t give us a spirit of fear. In 2 Timothy 1:7 [NKJV], it says, For God has not given us a spirit of fear, but of power, and of love and of a sound mind. I knew that this spirit of fear was not coming from God so I rebuked the Devil and gave Ava back to God and went to bed. Satan is there to discourage us and to try to keep our minds and hearts from God. But God never slumbers nor sleeps and He is all-knowing and all-seeing. He is so good, a marvelous, wonderful God. I realize that He has given us a trial to go through and I also know that He will lead us through it with kindness and love. I don’t know what He will do for Ava but I do know that He loves her; He created her; and He knew her from the beginning of time. Psalm 17:8–9 says, Keep me as the apple of your eye; hide me in the shadow of your wings from the wicked who are out to destroy me, From my mortal enemies who surround me. This means that God cares instinctively for His servants, for where it says, under your wings God is described as a mother hen. Chicks who flee for protection to the wings of their mother find not only safety, but warmth and love as well. In the same way, God protects us.

I also know that knowing all this does not stop the tears or the hurt or the wondering about the future. Know this—that God loves you all, and we love you and will be there for you at any time or any place.

All our friends and relatives that I have told are praying for all of you and us. I love you so much, and you can only know that now by how much you love Grant and Ava.

Love Mom

Her godly encouragement and support combined to form the most precious gift I could have received at that very early stage—an emotional life preserver in the midst of a storm darker and more powerful than any I had ever known.

Later that day, bolstered by Mom’s message, I managed to write an email to our family and friends explaining what we were facing. Though I would have preferred to stay hidden away in my sorrow and incredulity, I knew the reality, and part of it was that we needed prayer—lots and lots of prayer.

Thursday, August 23, 2007

We met with Dr. Green and Dr. Lanpher yesterday. In the end, we were told that Ava has a type of mucopolysaccharidosis (or MPS). There are many types and variations of this, which range from mild to severe (severe including cognitive problems and even life-limiting situations). Based on his examination of her, Dr. Lanpher believes she has Morquio syndrome, a disease that would affect her bones but not include cognitive issues. They took urine and blood for testing to determine if this is truly what it is, but we won’t know the results for a couple of weeks. He said the fact that she is walking and flexible and developing normally otherwise is encouraging, but that doesn’t change the fact that this is serious and very scary for us. Thank you SO very much for your prayers. Please keep them coming, as we need them desperately. We know God is in control, and we are putting our trust in Him, but right now I’m more than a little overwhelmed and hurting. Ava, on the other hand, has just come up to me and is smiling her sweet smile the way she always does. I’ve been remembering something I heard in Sunday school a few weeks ago—that we may see physicians, but God is THE Physician, and it is into His hands that we are putting our sweet girl.

Thank you again for your prayers. It is a very humbling yet powerful feeling knowing that others are lifting up our burdens to the Lord. We’ll update you as we find out more. In the meantime, please put her on any prayer list you or your church may have.

In Him,

Tammy

Jayne, a wise and godly friend and prayer warrior, was quick to reply:

Hey, Honey,

I have just been reading the emails. It sounds like God is truly in the midst of Ava. I will most certainly pass your requests along and please keep me updated.

Jayne

Naturally, her message was an encouragement, but at the same time, I wondered what I had written that would cause her to say what she did—that God was in the midst of Ava. And what exactly did that mean? I accepted it as a sweet sentiment at the time, but I would later discover it was much more than that.

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Coming Up for Air

We demolish arguments and every pretension that sets itself

up against the knowledge of God, and we take captive

every thought to make it obedient to Christ.

—2 Corinthians 10:5

As word of Ava’s diagnosis spread, messages of love and support poured in. They were so welcome, so wonderful, and so needed, but, of course, they didn’t fix anything. I wasn’t sure anything could ever fix my heart. I desperately wanted to be able to place it all in God’s hands and relieve my worry, but I felt as if I were in a state of limbo—breathing, conscious, and functioning, but unable to process much. My heart literally felt so heavy; it was as if I had been plunged into deep waters and no amount of kicking could propel me to the surface for that long intake of oxygen that would breathe life back into me.

I know now as I did then that people handle hurt in many different ways, some turning away from a God they trusted when all was well, some seeking refuge in Him no matter what storms stir the waters, and others