“Lead kindly light amid encircling gloom; Lead thou me on!  The night is dark, and I am far from home;Lead thou me on!  Keep thou my feet; I do not ask to see the distant scene.  One step enough for me.”   -John Henry Newman

I had an operator interrupt a phone conversation my husband was having to tell him our daughter was not out of the woods like the doctor had promised.  That she was lost forever.  We were nearly 1000 miles apart.  No embraces, just tension over questions to which I had no answers.  No, it had nothing to do with GSD.  I don’t know if they gave her enough glucose.  Was she comfortable? I didn’t know.  I had not been allowed to stand by her side like before.

I called Dr. Crigler to tell him the news. After a pause he said it was the saddest news he had every heard.  Last week from a wheel chair, recovering from a broken hip, he recalled that day and remarked as he respectfully bowed his head, “That was tragic.”

The autopsy confirmed it was Legionnaire’s disease (http://www.cdc.gov/legionella/patient_facts.htm).  Not sure where it came from.  It doesn’t matter now.  Natalie was dead.  October twenty-fourth would never be the same on my calendar.

Natalie’s Dad arrived by plane; the funeral was planned; we bought plot 257 in Section N at the cemetery.   That is real estate we never wanted to own.   Three papers across the country carried the news; Los Angeles Times, Marlborough Enterprise and the Midland Daily News.

My sister-in-law meticulously ironed the white smocked Polly Flinders gown Natalie had worn the day she was blessed and given a name.  She wore it again as she lay in her small white casket tucked in with a tiny pink and white pieced quilt LInda and her friend had worked on far into the night.  I had no idea how important that quilt would be over the years.  It comforts me to know it is draped over her chest as she lies beneath the winer snow.

The wake was surreal.  I felt like an actor doing and saying the things I was supposed to say.  Young mothers didn’t want to come through the line. I was called over to accept their condolences.   Most of my friends were still in college so their parents came to pay their respects.  I couldn’t fathom how so many people got the word.

My Father and brothers were the Pall bears to a box so small it looked like I could have carried it myself.  A child 1 year and 24 days old doesn’t require much to return to God.  The man who blessed her to be well gave the sermon and my friend Linda gave the eulogy.

The station wagon that brought us to Michigan drove us home in silence.  I remember nothing about that trip.  Life goes on.  Trite but true.  God bless of everyone.

Lesson Learned: You can do what you must…one step in front of the last.

“Now you know….the rest of the story.”    Dave Berry, Columnist

Natalie was not taken by GSD. She died of Legionnaire’s Disease; a tragic encounter with a gram negative bacteria.

I could have started my story here and left out the sad beginnings, but then you wouldn’t know the whole story.  As my close friends have read this blog, some of them were not aware of the details of this brief but significant season that colored my life.

The posts that follow tell the story of managing difficult situations in a disease that is relentless yet very livable.  The posts will no longer be linear, but written in topics that create branches of a tree;  oddly analogous to how scientists define glycogen which is stored in the liver in tree like structures.

With the risk of being abstract, if you take away a bit of wisdom from these stories it would be like cleaving a glucose molecule from a strand of glycogen.   In reading further I am hoping my stories will give you the “glucose” you need to move forward…. to grow as individuals in the process of helping your children along their journey.

Dr. Weinstein et. al. are making GSD a manageable disease with a cure on the horizon. It is thrilling to watch this long awaited miracle unfold.

“I am a child of royal birth.  My father is King of heaven and earth. My spirit was born in the courts on high; A child beloved; a princess am I.”    -Anna Johnson

Natalie seemed a little off the day before we were supposed to meet Linda to drive home.  The next day Natalie had a fever.  I didn’t know to increase her glucose intake 10% per degree of temperature above normal so she was probably hypoglycemic and too weak to complain.

I called Linda and said I would not be returning with her.  Natalie was being admitted to the hospital that afternoon due to pneumonia.  She said she would not leave without me and would stay with her friend until Natalie was discharged.

Some elders from the church come to the hospital to give her a blessing.  They blessed her that she would recovered completely.  I loved Brother Witt.  He was a powerful figure from my youth.  I felt slightly relieved.

I told the emergency staff about her condition and gave them the contact numbers they would need at Boston Children’s Hospital to reach Dr. Crigler.  My anxiety felt like a vice that continued to tighten.   As I write this 35 years later I am having difficulty swallowing and I cannot see the keyboard through the tears.  I felt so helpless.

The tent that surrounded Natalie was not maintaining the oxygen saturation in her blood so she was taken to the ICU.   The nurses were strict about only visiting five minutes every hour.  WHAT AN INHUMANE RULE THAT IS!  THIS WAS MY BABY IN THERE ON A RESPIRATOR.  WHY WOULDN’T THEY LET ME HOLD HER IN MY ARMS?

The attending physician told me that Natalie’s lungs were filled with fluid.  She had been given a diuretic to remove the fluid and a respirator to force her to breath.  He promised me she would be “out of the woods by morning.”  My body was so tense I shook.   My teeth clenched so tight they hurt.  Neither of which seemed under my control.

The alarm on the respirator went off and I literally jumped up in the ICU waiting room and ran for the door that separated me form my baby.  As I pushed on the swinging door the nurse on the other side pushed back.  “You cannot come in. The doctor is working on your daughter.”  I was furious.  I didn’t want to distract them from helping her, but this was so wrong!!  I forced myself to return to the waiting room.

I sat alone.  No one came to ask if I needed anything.  Twenty minutes later the doctor came in to give the news I already knew.  Natalie was gone.  I looked at the clock.  It was five minutes past one o’clock in the morning on a Monday.  The doctor asked if I wanted to call anyone.  I dialed a number to a friend and when she answered I couldn’t speak. The nurse told her I needed her.  She came to the hospital immediately.

My friend Merilee and I were taken to a room down the hall. Natalie’s body was wrapped in a blanket and the doctor laid her in my arms.  She was still hot from the fever and she lay limp in my arms.

I screamed out and cried and rocked back and forth for the next hour.  The sounds that left my mouth were primal at times.  I wouldn’t have wanted to be a spectator.  I questioned whether this post should even be written.

The words finally came.  I talked about how I tried to be a good mother…. over and over again. How hard I had worked to take care of her.  She was supposed to get better.  I was a 21 year old child begging for it not to be true.  Sometimes rocking in silence.  Sometimes just crying.  The tears streamed down my face like a river. They would not stop.

Natalie grew cold and her color ashen.  She didn’t feel like my baby anymore.  I hesitated, then gave the body of my daughter back to the doctor. I would never see the twinkle in her blue eyes again. I was empty.  It was done.

Lesson: Sometimes there are no words.

“Knowing yourself is the beginning of wisdom.”    – Aristotle

Natalie and I had our own room at Dad’s house, complete with a crib he had borrowed. While Dad and I attached the IV pole to the crib and made sure an outlet was close by for her pump, Natalie explored her new surroundings. She toddled unsteadily up and down the hallway outside the room, giggling and stopping at the end to admire her reflection in the mirror. The only mirror in our apartment was over the bathroom sink and I do not recall any mirrors in the hospital, where she had lived for over a month. Natalie had a Fisher Price hand rattle with a small mirror on one side, but none where she could admire her whole self. She stood in front of the curious glass and touched her nose, then squealed. She put her hand on the top of her head, and giggled. Natalie was discovering her body for the first time.

My step mother Emmy Lou kept an immaculate house. My sweet little toddler left toys and books scattered here and there and of course there were diapers in the trash. I kept the bedroom door shut so the reminders that Natalie had a liver disease were out of site. That evening after Natalie was in bed and I was on my way to clean the mirror of those grimy fingerprints, Emmy Lou stopped me. “I am sure there will be more of those. Let me take care of that after you leave. You have enough to do.”

I realized that I had been living with the knowledge of Natalie’s liver disease for almost four months. Dad and Emmy Lou had only heard about the situation in letters and over the phone, not fully understanding the ramifications of Glycogen Storage Disease. They were grieving. I could tell they felt sorry for me, but I didn’t need pity. I had doctors who gave me hope and courage to help Natalie live a full life. It just required a little more vigilance.

Over the next few days Natalie and I called on friends from high school, some special people from church who were influential in my teen years and my sister came to visit. My sister and I talked for hours after everyone went to bed. She was concerned about me and wondered how my husband and I were doing. Our relationship had always been rocky, but I thought when Natalie was diagnosed it gave us a purpose to move forward together with the same goal.

I needed to stand in front of that mirror and see my situation as it really was, but I wasn’t ready. I could only see that my little girl needed me to be strong. She needed me to take care of her.

Lesson learned: “The best way to find yourself is to lose yourself in the service of others.” Mahatma Gandi , but denial is a protection from that which we are not ready. We come to know ourselves better by helping others and observing ourselves in the process with as much honesty as we are able.

“All journeys have secret destinations of which the traveler is unaware.” –Martin Buber

There is something mysterious about starting a journey in the dark.  My friend Linda invited me to drive to Michigan with her and her two young children in October.  She suggested, and I concurred, that driving at night was the least difficult way to make the twelve hour trip while our little ones slept.

Feeling quite confident about Natalie’s protocol, I didn’t hesitate.  My family, who lived in Michigan,  had not seen  Natalie since she was six weeks old.  Days before we were scheduled to embark on our journey my husband lost his job.  He encouraged me not to change my plans.

I vividly remember hanging the burette with Natalie’s dextrose on the hook in the car that ordinarily is home to the dry cleaning. I can’t remember what powered the pump because it only had an auxiliary battery that lasted for a few hours.  Knowing Natalie’s Dad he probably rigged something up with the cigarette lighter.   Natalie was tucked snugly into her car seat with the patchwork crib quilt I made for her before she was born. The skies were ominous at 9:00 PM and it was raining.

The children slept more than half way and Linda and I shared the driving. Everything went smoothly and we arrived in Michigan under blue skies before lunch the next day..  My father was there to take Natalie and me to his house in Midland an hour away. I disconnected Natalie from her pump and held her hand as she tested out her new walking skills that were only a few weeks old.  Dad tried to hide his sadness when he loaded Natalie’s IV pole and other supplies into his trunk.  He  shook his head from side to side in silence, then said, “I am so sorry Iris.”  He shook his head again, but this time he didn’t say anything.

I called Natalie’s dad and told him how well the road trip had gone and that Natalie and the other children couldn’t have been more companionable. When they weren’t sleeping they sang and laughed and asked, “How much longer till we get to Michigan?”

Lesson Learned: Don’t expect people you love to grieve at the same time or in the same way as you do.

“Look to this day for it is life, the very life of life.
In it’s brief course lie all the realities and truths of existence;
The joy of growth, the splendor of action, the glory of power.
For yesterday is but a memory, and tomorrow is only a vision,
But today well lived makes every yesterday a memory of happiness
And every tomorrow a vision of hope.
Look well, therefore, to this day!”

Ancient Sanskrit Poem

The air had a chill in the mornings and the leaves were turning yellow with tinges of orange. There is nothing like the sweet smell of fall when the deciduous leaves are dying and the evergreens are all the more vibrant. As in the cycle of life, no two autumns are the same; more rain, less rain…. a long Indian summer. My mother taught me to appreciate the change of seasons from the vantage point of our home in Michigan. Apple picking was the sure sign that fall had arrived. I wanted Natalie to experience a full life in spite of diet restrictions and the medical equipment that surrounded her crib.

At the orchard we visited one Saturday in September, Natalie sat beneath the tree inspecting the apples that dwarfed her hands. Even though the fruit sugar they possessed was on her restricted list I allowed her to bite into its juicy meat. She giggled as the sweetness dripped off her chin. I stopped filling my bag to run back to the car where I had left the camera. Natalie’s dad suggested we could get one next year and I acquiesced which was not uncommon. I guess the picture didn’t matter in the end. My mind has a special place that keeps three dimensional memories far more accurate than a picture.

The following week while on a walk in a nearby trailer park, Natalie and I were selecting pine cones for a Christmas wreath. She investigated the sharp points on the plates and even though she was only a week shy of one year old I explained that the seeds to grow another pine tree were nestled inside the pine cone she clutch in her chubby little hand.  She looked into my eyes and listened as if she understood.

“Good times” as the kids say now. Natalie’s disease just required a different way of living. I seemed to be able to figure out how to share the world with her in spite of her tedious feeding schedule. With careful planning, glucose and snacks readily available, we could have fun where ever we ventured.

Lesson Learned: Seize the day!

“If we have a heart to learn and a willingness to follow the example of children, their divine attributes can hold a key to unlocking our own spiritual growth.”  –Jean A. Stevens

After a little over a month in the hospital, Natalie, her daddy and I came home to our small basement apartment where it was actually dark and quiet at night, except for the occasional set of headlights that illuminated the curtains. I found another pediatrician who lived near in case Natalie got sick, but her follow-up appointments would be in Boston with the men I had come to trust.

The feeding pump was placed on the dresser next to the crib. Every night after reading the books she loved, I would attached her gastrostomy to the tubing that was her life line. The pump slowly pushed the 10% dextrose into her gastrostomy at the rate she needed. I checked on her in the night to make sure the pump was functioning properly. If I didn’t remember checking I would wake in a panic.

Natalie’s personality shined now that she was not plagued by hypoglycemia. She ate every 3 hours while she was awake. There were no more frantic meals, fatigue, or falling asleep in her food. So many times I thanked God for being in the right place to have Natalie diagnosed. What becomes of the children who do not have access to specialists who are familiar with this disease? I can’t think about it. It tortures my soul.

At bath time there was a game she and I played that made her laugh so hard she would fall over backwards in the tub. I placed a wash cloth on her head and pretend I did not know where it went. She would giggle and then tip her head forward until the wash cloth fell into the water. I acted surprised and she would laugh so hard she almost couldn’t catch her breath. Once the laughter coming from the bathroom was so boisterous  her daddy stopped reading  to investigate.  We replayed the trick and it was as if it was for the first time.

One blistering hot August afternoon the cool water in the pool of the apartment complex looked inviting. Dr. Crigler said the stoma around the g-tube was healed enough to go swimming. I dipped Natalie’s toes into the pool and slowly lowered her into the pool until her entire torso was under water. Natalie was joyous. She kicked and laughed at the new experience. I told her the world had so much more in store for her.

Lesson Learned: Forget past difficulties and live in the moment.

“Toto, I’ve got a feeling we’re not in Kansas anymore.” 

Dorothy Gale, Wizard of Oz

The low profile wooden cart with a back rest that had been Natalie’s transportation around the hospital over the past month was full of her small clothes, a few stuffed animals and medical supplies.   There was so much excitement on the Clinical Research Floor because Natalie and I would finally be going home. I was young and naive, but full of faith which carried the burden of some of the fear. It was not the same for my husband.  While we had been at the hospital learning about GSD, he had been at work supporting our little family.

The day before our discharge Dr. Crigler bestowed some life saving advice that is written indelibly in my mind.   “Iris, this is a profoundly rare disease and you need to advocate for your daughter.  Most physicians do not know what you already know.  If ever you are in an emergency room and cannot get the help you need, please call me.”  I had no idea how important that advice would be six years hence.

I am racking my brain to remember nurses names and their part in our send off.  They were paramount in Natalie’s day to day medical care.  Why were they not memorable?  I wonder if it is like a child whose mother is with them day in and day out loving and caring for them at the expense of themselves at times, but when daddy comes home, there is no one more revered than he.  It could also be my own trust issues when it comes to women.  More than likely it is a combination of these and other questions that have not yet been considered.

Just before we left the floor Dr. Folkman instructed me about replacing the g-tube if it came out.  He backed it up which a sincere offer of his personal help if I needed it. He handed me a piece of paper with his home phone number on it and said, “please call me.  I will drive to your house and put it in myself.”   Both Drs Crigler and Folkman dispelled any preconceived notions about world famous physicians being unapproachable or unavailable to their patients.

Natalie’s daddy stuffed the compact car with the vestiges of our new life and drove us away from 300 Longwood Ave., along side Harvard Medical School bustling with future physicians and onto Huntington Ave.  We were going home, but I knew we would never live in “Kansas” again.

Lesson Learned: No one can change the diagnosis, but they can support you in it.

“Accept the things to which fate binds you, and love the people with whom fate brings you together, but do so with all your heart.”

Marcus Aelius Aurelius

Natalie belly laughed and giggled at toys falling through the bars of her metal institutional crib or water splashing her in the face when her tiny hands slapped the water in the shallow stainless steel sink that smelled of Betadine (antiseptic). There is truly “beauty all around” when there is love. Part of everyday was spent in the Prouty Garden at the heart of Boston Children’s Medical Center. We would sit and watch the visitors of other children play tag as their bouts of laughter echoed between the walls. It is still a green sanctuary surrounded by brick and mortar.

As long as Natalie’s blood sugar levels were maintained within normal limits, life was good. I started being conscious of taking deep cleansing breaths for the first time in months.

I don’t recall how long it was before I found out the liver biopsy confirmed that Natalie had Glycogen Storage Disease 1a (GSD1a). I do remember it was not at some formal meeting in one of those dingy windowless rooms that so often exist in old hospitals. The diagnosis just put a label on the symptoms I had been dealing with for months.

There was now DNA evidence that confirmed Natalie Ann Tremelling had GSD. She was not blessed with glucose 6-phosphatase, the enzyme that breaks down glycogen to liberate glucose into the bloodstream. This is a crucial function of the liver called glycogenolysis. It is one of the metabolic pathways of the body that allows people to sleep all night without eating, to play sports, ride a bicycle, or do anything that requires energy. If you haven’t eaten the body detects a need and goes into action to supply the “sugar” your brain and body needs without any conscious effort on your part…unless the system is broken.

Adjusting to the gastrostomy ended up being simple, but not trouble free. It looked sore for a while and I projected my uncomfortable feelings about it onto Natalie. I was careful about how I picked her up and what clothes she wore. After the tissue healed she hardly took notice. It was like a mouth or belly button….exploring it at first, than accepting it as a part of her. The tube made life manageable and my understanding of how to care for Natalie was in its infancy, but we were ready to go home.

Lesson Learned: Acceptance isn’t a choice if you want to move on.