“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.

“If ever there is tomorrow when we’re not together…..there is something you must always remember.  You are braver than you believe, stronger than you seem and smarter than you think.”

Winnie the Pooh

Four weeks after Natalie was admitted to Boston Children’s Hospital, the doctors were verging on a diagnosis. The path to this juncture seemed short in retrospect.  We all decided the gastrostomy (Pediatric Surgery – Gastrostomy Tubes) was a good idea because of the rigorous feeding schedule that maintained her fragile blood sugar.   A liver biopsy was being preformed at the same time to determine the exact nature of her metabolic disease.

There are good men and there are great ones.  After a few moments with the surgeon, Dr. Judah Folkman – Wikipedia, the free encyclopedia, I knew I was experiencing greatness.  When he spoke there was no judgment, but he was decisive.  He was kind in his choice of words, but did not mince them.  He acknowledged my anxiety and reminded me of my intellect.  In a short time he prepared me, a 21 year old mother, about what to expect when Natalie returned from surgery.  He drew pictures of what the tube would look like protruding from my little girl’s abdomen.  I started learning vocabulary like stylette, stoma, granular tissue, G-Tube and balloons that inflated to secure the tube in the stomach.   Dr. Folkman spoke in positive honest terms and I felt like I could do what was being asked of me, in spite of my fear.

I was excited about the prospects of feeding Natalie while she was asleep without disturbing her.  She would finally be able to sleep without getting hypoglycemic.  I seriously had no consideration at the time for my own lack of sleep and how that might effect me. Why should I?  Were there options?

Natalie was wheeled off to surgery alone early one morning in July 1977.   I cannot honestly remember how long it took or where I was ….probably because I think I went home for a full night sleep and I felt bad about that.    When she was delivered back to her room I was waiting for her.  She had a golden colored tube extending from a dressing on her abdomen and one IV in each arm dripping glucose into her veins to stave off the hypoglycemia while she was not allowed to eat.  I didn’t know it at the time, but her pancreas was working overtime supplying insulin to handle the constant flow of glucose into her veins.  If an interruption in the glucose lasted very long she would be in danger of severe hypoglycemia; so severe that children have perished.  My ignorance was blissful, but could have been deadly.

I gently laid my hand on Natalie’s arm, because cradling her was out of the question.  I spoke softly to her and told her how things would be easier now.   My muscles were stiff from anxiety, I felt sweaty with perspiration, but Dr. Folkman told me I could handle this, so I knew I could.

Lesson Learned: You can do what you think you cannot.

“When we are no longer able to change a situation, we are challenged to change ourselves.”

Victor Frankl

My intuition had been right. Something was gravely wrong with my daughter. The blood tests that the pediatrician had ordered showed that Natalie’s liver function tests were severely deranged. She was admitted to Boston Children’s Hospital, but the Chief of Medicine was out of town. More data was gathered by interns and residents and presented to him upon his return.

Before Natalie’s father and I had our first (and last) meeting with the Chief of Medicine, he had already decided that Natalie needed to be seen by the Chief of Endocrinology. The meeting was arranged.  Dr. Crigler  John Crigler, MD – Children’s Hospital Boston  turned out to be a very tall, thickset, impressive gentleman with a hint of the South that still lingered in his speech. He bowed his head slightly toward me as he asked more questions, but gave no answers. I was mostly numb those days, going through the daily hospital routines with my feelings steeled up inside. I tried to exude a positive attitude. Denial can wear the most obscure disguises.

The following day in a conference room on the floor where Natalie had spent the previous three weeks, we were told that our daughter had one of three diseases, the last of which was possible, but unlikely; Glycogen Storage Disease 1a or von Gierke’s Disease.  Glycogen storage disease type I – Wikipedia, the free encyclopedia  There followed an uncomfortable silence. The only way the later disease could be confirmed at the time was a liver biopsy. It was suggested that a gastrostomy be put in place during the biopsy to facilitate the around the clock feeding schedule that she required. I had waited and waited for information. When it came there were no tears, only resolution laced with tension and fear.

The emotional side of the new trajectory of my life was too complicated to wrap my mind around. I was more worried about superficial things like scars and my little girl never being able to wear a two piece bathing suit, because thinking about what the future might look like was unspeakable. There were no words to ease the pain, no experience to draw upon, no one I knew who had walked this way before. The only choice in my mind at the time was to follow the advice of the doctors and to carry on.

I was 21 years old. Weren’t most people my age out partying with friends? My life revolved around making critical decisions for my smiling, giggly, good natured baby girl who I loved more than myself. Glycogen Storage Disease was an issue a pill could not fix. It was a chronic disease that would require a lifetime of care. The liver biopsy and gastrostomy were scheduled for the following week.

Lesson Learned: Acceptance of change is a process.

“

Behind the dim unknown, standeth God within the shadow, keeping watch.” 

James Russell Lowell, “The Present Crisis.” 1844

Natalie’s blood tests must have been completely out of the range of normal because I was told that it was “imperative” I take her to the hospital “immediately.”  So my intuition wasn’t faulty!  I walked through the doors of Children’s Hospital Medical Center in Boston that warm June morning in 1977 and my life changed forever.  I just didn’t know it yet.  What I knew was that everyone wanted to hear what I had to say now.   As the physicians, senior residents, interns, fellows and more interviewed me about Natalie’s short eight month life, I began to piece together the puzzle of my little one’s malady.

We started at the beginning.  Natalie had been hypoglycemic at birth, but the doctor said that was typical of big babies.  Natalie weighed in at 8 lbs 13 ounces.  It broke my heart to leave Natalie in the hospital those two days.  She was fed formula every few hours and when her blood tested within normal limits I brought my baby girl home.

Nursing was difficult for me. I was a 20 year old college student, far from family, who had never been around anyone who nursed their baby.   It did not seem to satisfy her.  I gave up after a few weeks and fed her the Enfamil that was sent home in my bag of diapers and lotions from the hospital.  Natalie sucked on the bottle desperately…like there may not be enough.  As an infant it was not unusual for her to finish 4 ounces of formula, fall asleep and be hungry in a few hours.  I had been advised by her pediatrician to stretch out the feedings.  When I tried to follow the doctor’s orders Natalie would scream and cry like she was in pain.   The crying was followed by a deathly calm….almost eerie.  When I did feed her she seemed weak at first and then would fall asleep.

As the doctors asked me questions I remembered more. Her temperature seemed hard to maintain; hot with perspiration at times, then cold and clammy.  I took my mother’s advice to offer Natalie cereal when she was only a month old. I couldn’t feed it to her fast enough.  Natalie was nervous at feeding time. I blamed myself because of my own anxiety and feelings of inexperience.

It was discovered very quickly that Natalie could not maintain a normal blood sugar level because of some dysfunction in her endocrine system, so she was fed formula around the clock along with the meals she enjoyed eating, augmented by an IV of glucose when she needed it.   I was nervous and happy at the same time.  In spite of IV’s, blood sticks and constant palpation of her not so tiny liver she was a happy girl.

The doctor we needed to see was out of the hospital for the week, but my concerns were finally being taken seriously.  I felt safer in the hospital, but there was still no diagnosis.

Lesson learned:    By the grace of God go we.

Nobody can give you wiser advice than yourself.  ~Cicero

“Just ignore her in the middle of the night.  She will be sleeping through in no time,” I remember my friend saying.  Natalie was hungry frequently.  The advice just didn’t feel right to me.  I was an inexperienced mother, so what did I know?  I have a sick feeling in my stomach as I recall vividly the morning after I tried this sage advice.  Natalie laid in her crib, not crying, limp, cold and clammy.  Her eyes were open, but the shine was gone.  What had I done?  She was almost too weak to drink her bottle.  Something was wrong.

Why didn’t the doctor believe me? Why did she think I was an excessively concerned first time mother?  How could I get someone to listen?   Natalie had a big belly that made it difficult for her to sit when she was 8 months old.  Sometimes I made her wait over two hours to eat, and then when she did eat, she was ravenous and would often fall asleep mid mouthful.

I took Natalie to the pediatrician for her MMR.   I expressed my concerns to the doctor again.  With frustration in her voice she said, “If that is what YOU want Mrs. Tremelling! I will order a blood work up for your daughter.  I honestly do not think there is anything wrong.”  Hours later I received a phone call from the pediatrician telling me it was imperative that I get Natalie to Children’s Hospital in Boston immediately.  Somebody listened!

Lesson Learned:   Listen to your heart