A Diagnosis - Long time coming

For a long time I have wanted to write about what it was like in the days preceding Eli's diagnosis as well as elaborate a bit on Eli's tumor. As many of you know, I had always been concerned that something was not quite right with him. I saw specialist after specialist and everyone thought he was just fine...he was just so close to normal no one ever thought he could have a tumor!

For one of my classes in medical school we were instructed to write a narrative about being a patient and what our experience was like. Needless to say I decided to write about my experience with Eli. The stream of conscious essay that follows should be taken in this context. Also, I want to emphasize that while the doctor who diagnosed Eli with a brain tumor was very sure of his illness, all the specialist we saw in the months preceding did not have all the pieces of the story. First, many of his signs and symptoms had not presented yet, and others I under appreciated and did not tell the doctors about. We do not feel that any doctor "should" have picked this up! It is a very rare condition. What we do wish, what I wish, is that a mother's earnest concern about her child was taken more seriously. If this had occurred earlier in his life, he would probably still have pituitary function! Unfortunately, a parent's concern for their child, and most often a mother's intuition, is not taken seriously...and mother's really do know best. The week before Eli was diagnosed I attended a medical school lecture that featured a mom and her daughter. The daughter had some obscure genetic abnormality that no one could figure out. The little girl was very sick. The moral of the lecture was the importance of listening to the parents about their children, what they are like and how they feel. In the 5-15 minutes that a doctor spends with a patient they cannot possible know what is going on with a child better than their parent (providing the parent is a decent observer and not crazy!) After the lecture I said to myself..."yeah I guess". Two weeks later my own instincts about my child were confirmed. I hope that in my career as a doctor I always remember this lesson, and really listen to what my patients are telling me.

The Day Eli was Diagnosed

On the day Eli was born, we welcomed the most beautiful, the most perfect little boy into our world. From beneath the newness of his skin and redness of his swollen eye lids, an ageless and ancient soul emanated. While admiring his inner resonance, we noted that his hands looked just like daddy and his nose like mommy. The nurses counted his fingers and toes, examined his skin and spin, the mundane check-up of the newborn. All was in order. He was our “perfect” baby boy.

Everyone was jealous of us. Eli was such an easy baby. He was happy, inquisitive and had an amazing calmness. With every passing day we watched and waited for the “milestones” of infanthood. The smiles came at 4 weeks, the rolling over by 8-12 week, then cooing and babbling began. He sat up unassisted by five months and at five and a half used his first sign from the sign-language we were teaching him, “milky”. We continued to watch and wait for him to really get moving, to crawl, walk, run…but they were slower to come. His vocabulary by a year was astounding 50+ words (including sign language), he loved to read, listen to music and of course…talk! But he never crawled, did not scoot, never rolled across the floor and seemed to be uncomfortable when forced to be in a quadruped position. I demanded he receive physical therapy in spite of the remarks from his doctors: “He’ll catch up. The spectrum of normal is a bell-curve. He’s perfectly normal!” But he wasn’t. I knew he wasn’t. His gross motor skills continued to lag, I wanted further evaluation and so again demanded we see an orthopedist. She found nothing really wrong, but suggested we see a neurologist. My PCP declined that request.

He remained a very easy baby and toddler. He never ran into the street (he couldn’t run), he never hit, or bit or had a temper-tantrum or even got really upset! Everyone told me it was because I was such a good mom, he didn’t have a reason to be angry or act out. I thought that was ridiculous. All children have cause to rebel, unless something is wrong with them. I again requested we see a neurologist, my new PCP, although not convinced he needed the evaluation was accommodating. The neurologist found no real problems. I was almost convinced, convinced that I was just plain wrong about any underlying medical problem. My family, our doctors (pediatrician, neurologist, ophthalmologist, orthopedist) all agreed: “He was just fine.” My husband was the only one who agreed when I said: “But he’s not like other children. There is something wrong with him!”

In June of his second year Eli started to vomit. At first we thought it was a cold, he had always been a puker. You know, some kids get fevers, some get ear infections, Eli vomits. He had bouts of emesis nearly daily for 2 weeks. It stopped and he was well for 10-14 days before he began vomiting again, this time he only vomited for 1-3 times over a 1-2 day period. Then he would be miraculously well. This pattern continued for 5 months. We brushed it off to starting preschool and being infected by all those germy little kids. He was fine. I had now been convinced I was just wrong about him.

On December 31st, 2008 while visiting family in New Jersey, Eli, now 2 years and 3 months old, started vomiting again. But this time it was different. It did not stop. “Mommy, mommy my head hurts,” he sobbed clinging to his blankie and holding it up to his temples. After a brief visit with a local pediatrician, Eli was admitted to “Holy Hell” hospital for severe dehydration. I explained Eli’s entire history, including recent episodes of polydipsia and polyuria, so extreme that in a 20 hour period he drank nearly 70 ounces of water (children his size should not drink more that 24 oz in 24 hours). This event happened two days prior to his hospitalization. Both the headaches, the previous vomiting episodes, his urinating were all ignored by the attending physician.

He was worked up for gastroenteritis, put on IV fluids and antibiotics. He did not improve. After spending the night in the hospital and spending the first 6 hours of the morning wiping bilious vomit from my son’s lips I demanded further evaluation (Why did I keep on having to demand care for my son? Why did I feel I was always being demanding?) Intussusception was next diagnosis to bat. I argued with the attending, “but he does not have abdominal pain. He said his head hurt.” She assured me that it was common for patients to have non-painful intussusception, in fact she had a case just last week. They abdominal x-ray was negative so they moved on to a diagnosis of bowl impaction. But I said “he just pooped yesterday and he has never had problems with his bowel movements.” The general surgeon assured me that feces can be passed even when there is a blockage. I looked at the scans with the doctor. He showed me that Eli’s ascending colon was collapsed and showed me the blockage that was backed up from his sigmoid to his left colic flexure. Okay I said. Let’s get this kid an enema! It did not make sense to me, I was just a first year medical student, what the hell did I know? I had NO idea what was wrong with Eli. I just knew that things were not adding up. So I called every doctor I knew. I did not trust the staff taking care of us, but did not know enough, or was not lucid enough to advocate for a transfer to another hospital.

Two hours after the enema Eli had a massive grand mal seizure. I saw it coming immediately. I thought that he had been having absence seizures all day, but the nurses told me “Oh kids do all kinds of things to manage what is happening to them. He’s okay.”

The seizure began with total body stiffening, convulsions, eye blinking and uncontrollably lip smacking. I screamed out of the room and into the intercom: “He is having a seizure, a seizure. He’s seizing.” His face was stiff, his skin taught, his neck veins and chest wall protruded from beneath the hospital gown as his body convulsed. Just the previous week I was shadowing at Children’s Hospital and witnessed a child have a seizure…it was terrible. It was nothing compared to Eli’s. I tried to remember the calm of that little boy’s mother. Her example gave me the strength to maintain my composure. While inside my blood boiled with fear and anger and I wanted to scream bloody murder, outside I remained calm and holding back my tears I gently said “Look at mommy Eli, look at mommy… I am right here.” He stared right through me. “Come back to mommy Eli come back to mommy. I’m right here. I love you bubby.” His body shook in my arms like stiff wooden boards, his neck did not bend, his eyes remained peeled open, as though he was searching for his way back to my voice. “Mommy’s right here Eli, it’s okay, you’re gonna be okay. I’m right here. You’re gonna be okay.” I do not know how many more times I said it out loud but the words “you’re gonna be okay baby” pervaded my thoughts. It was more of a prayer than anything else…and I don’t pray!

Completely untrusting of the competence of the attending and hospital staff I called my pediatrician back in Colorado. It was 11pm in Denver and therefore I got the physician on call. He happened to be the only doctor in the practice I did not know. I did not care! As Eli lay in my arms seizing, I gave him the minute-by-minute account of what was happening. He asked me if they were ordering a Chem 10, I said “are you ordering a Chem 10?” The nurses looked at me blankly and replied a “A chem 7 with the addition of magnesium and phosphate.” He asked if they had called a code to alert the hospital of the emergency…again when I asked they looked confused. My pediatrician stayed on the phone with me for the next hour. He kept me sane, informed me what should be happening, what tests to make sure they ordered, what should be done post-seizure, answered all my questions and mainly just sat there and let me breath into the phone. He saved my life that night.

Eli received two doses of ativan 5 minutes apart, but that did not stop the seizure. His lip smacking and eye blinking disappeared, but his body continued to struggle. For whatever completely unacceptable and still unfathomable reason, it took the hospital 1 hour and 32 minutes to get Eli’s phenobarb drip started. He finally stopped seizing. We were transferred to the PICU at Hackensack University Medical Center (HUMC) within the next hour. Eli’s “Chem 7 + 3” came back. His sodium was 109 (P.S...That's BAD).

Upon admittance to HUMC we were greeted by 2 pediatric intensive care doctors (PICU docs). Within the hour we had four doctors at Eli’s bedside. Finally, I thought…finally someone is going to help us…finally Eli is going to get the care he needs, the care he has been waiting 2 years to receive. Finally someone is going to take all the little pieces of Eli’s story, and put them together. So what are all the pieces and what picture do they paint. His current and past history is pertinent for the following, in no particular order of importance:
1. Gross and some fine motor developmental delay (9-12 months delayed)
2. Socially/Intellectually precocious (9-12 months ahead)
3. Low activity level. Low threshold for physical stresses/challenges.
4. Intermittent unexplained vomiting.
5. No or minimal growth in height or weight since 18 months of age (that’s almost a YEAR)
6. Progressively worsening polydipsia and polyuria over 10 months with an extreme episode on Dec 28th 2008 (5 days ago).
7. Exotropic strabismus with corrective surgery on 5/08. (Note family history for strabismus in mother and maternal grandmother.)
8. Enlarged head circumference for body size.
9. Misshapen head.
10. Blood work negative for a metabolic disorder.
11. Negative x-rays for hip dysplasia and intussesseption
12. Low muscle mass, without decreased tone (not hypotonic)
13. Hyponatremic –despite IV fluids with sodium chloride.
14. Seizure (most likely due to the 109 Na+).
15. Lastly (and not unimportant) his mother’s heartfelt belief that there was something not right about her son, and had not been right since he was 3 months old.

After a CT scan Eli was diagnosed with a large craniopharyngioma (a non-malignant brain tumor in a “malignant location”). It had destroyed his pituitary gland and compressed his right optic nerve to the point of total atrophy, the extent of which would not become apparent to us for another 4 months. I asked the intensivist caring for Eli if he had an idea before the CT that Eli had a brain tumor. He said that after hearing in detail all of Eli’s medical problems over the last two years, he knew. In a thick New York accent he replied bluntly, “Well, it was all in the patient’s history.”