Diagnostic Odyssey

All parents desire a healthy child, but as we all know, sometimes our “perfect” children have medical issues that are difficult to understand and even harder to treat. So it was for my son. His birth was wonderful, though quite unremarkable, medically speaking.

It did not take long for me to realize that something was not quite right. The most obvious clue in the early days was my son’s lack of eye contact and feeding problems. He had a lot of difficulty breastfeeding and after about 8 months, I weaned him and tried formula. It made things worse. He vomited all formula, milk based, soy formula. It didn’t matter. The doctors finally tried to address the vomiting and sent us to a gastroenterologist. There the doctor suggested that we try hydrolyzed formula. My son refused it entirely. We finally found a toddler formula that was milk based which he seemed to tolerate.

At a year old, he was below the 3rd percentile on the growth charts. His milestones were coming along slowly. He walked at 18 months. He started talking. I felt like “things will be okay” but things were not. It was just beginning.

He started having white bowel movements. They were white white white. It was so incredibly odd. The doctor tested liver function but it was fine. After a FEW WEEKS the weird diapers stopped for a while. Then he had black and tarry bowel movements. Weeks later he started having pale large, bulky, greasy, smelly bowel movements. This is a something that is often seen in malabsorption syndromes or in cystic fibrosis. His doctors at this point wanted to test him for cystic fibrosis and celiac disease. The sweat test (CF) was negative and the celiac markers were non-existent.

At this point, we have a multiple issues and no answers anywhere. We were just at the beginning of what I now call our diagnostic odyssey.

Our family moved to Singapore when our son was 4 years old. He was still a small kid, prone to vomiting, didn’t eat very well. He started to seem very typical in many ways. He was talking and playing with his sisters and brother. But there was always something a bit off.

At his new school in Singapore, his teachers immediately identified his gross motor skills as being far behind. I wasn’t really aware until it was brought to my attention. He couldn’t jump, his balance was poor, coordination, lacking. I took him to the pediatrician and she sent us to the cardiologist (heart murmur), GI (weight), neurologist (seizures?), endocrinologist (growth), and genetics (answers). It was an extensive work up and there were many flags though nothing diagnostic. Little did I know that medical crises to come.

I wrote out some notes on his medical journey. It has been extensive, and pulled us in many directions. When doctors ask for a medical history, it is not easy to start. Where? What is relevant?

1. Pregnancy and birth
   1. Born at exactly 40 weeks of pregnancy after an artificially induced labor that lasted approximately 5 hours
   2. Birth weight 8lbs, 5 oz
   3. APGARS, perfect

2. Birth-3years
   1. Some feeding problems were observed early on
   2. Breastfeeding was stopped at 8 months due to slow growth and poor feeding. Switching to formula made these issues worse. He would vomit cow’s milk formula. Tried soy based formula, same result. He would not accept hydrolyzed formula. Eventually found an organic formula for toddlers (milk based) that he did ok with.
   3. Milestones were achieved at the later end of normal development. He walked at 18 months.
   4. He was under the care of a GI doctor in NYC. They tested him for celiac disease and cystic fibrosis (sweat test) Both were negative.
   5. He started having white poops as a toddler. This went on for weeks. Later he started having dark grainy poops. Then he went back to having white poops. We went through this cycle a few times. Lots of testing, no diagnosis other than blood in the stool. He also experienced ongoing large, bulky, greasy, and light colored and foul smelling poops. Eventually with potty training, I stopped seeing the poop and didn’t realize there were continuing issues until a number of years later in Singapore

3. Age 4-9 
   1. We moved to Singapore in December 2010 when he was 4 years old.
   2. I enrolled him in a Chinese immersion preschool and they noticed that he had physical delays in both fine motor and gross motor skills. He couldn’t jump with both feet off the floor. He had significant coordination problems. He struggled to write and use scissors (Chinese kids all start writing very young, so I figured they were being too aggressive)
   3. The Chinese school also weighs and measures the kids regularly and he was small by Chinese standards. His weight was always low.
   4. The school called frequently to have me pick him up because he would throw up after eating or he would lay down and during the day and sleep. He didn’t have a fever. He wasn’t sick, but he was not eating and not acting normally.
   5. Once he started throwing up, it would go on for hours. After the first couple of times during a vomiting episode, he would dry heave or vomit bile.
   6. I started taking him to the emergency room during these episodes and they would administer an antiemetic and send us home.
   7. I finally scheduled an appointment with his pediatrician to go over all these things and she sent us to see a cardiologist, neurologist, endocrinologist, and geneticist. Cardiology noticed a heart murmur, but an echocardiogram revealed it to be insignificant. The neurologist did a few exams including an EEG and MRI. Both were normal. The geneticist did a microarray and it showed a 261kb deletion at 17q21.33. The endocrinologist suspected growth hormone insufficiency and blood testing confirmed low IGF1. After multiple tests showing low IGF1 and high growth hormone the doctor suggested we try growth hormone injections. We went through with these injections for 3 weeks. Retesting IGF1 showed a small improvement in growth hormone.
   8. Within days, he started throwing up. I took him to the ER again and he threw up as we entered the triage area. The hospital was very familiar with my son at this point and they took him back right away and did some immediate testing that showed High Anion Gap Metabolic Acidosis and high ketones. The urinary organic acids showed elevated levels of EHA-2 and EMA in addition to dicarboxylic aciduria. The doctors ran tests which suggested a disorder of metabolism involving the electron transport chain. After stabilizing him, we were referred to a doctor at NUH, Denise Goh. GOH Li Meng, Denise – NUS Yong Loo Lin School of Medicine 
   9. Denise Goh met my son and came up with a plan to test him for various inborn errors of metabolism during the next episode. We didn’t wait long, within weeks we were back in the hospital. Further testing didn’t clarify things, unfortunately. He was in and out of the hospital with the same metabolic acidosis. Finally Denise Goh suggested we try a feeding tube to help with his weight and keeping him fed when he is sick. The doctor did an upper GI study and showed regurgitation from the duodenum. Lower GI study was abnormal with very long transit time and showed significant inflammation. At this point Denise wanted to rule out MNGIE (Mitochondrial neurogastrointestinal encephalomyopathy) and so his thymidine phosphorylase was tested. The results were normal.
   10. A PEG tube was placed under general anesthesia and a muscle biopsy was done. Post-operatively, he was taken to ICU due to metabolic acidosis. Within 24 hours, he had stabilized and we were sent back to the floor. He was discharged soon thereafter. He had spent 3 weeks in the hospital getting tested for things. 
4. Age 10 to present, Brazil
   1. We moved to Brazil in April 2015. my son was using a Mic-Key button at this point and we were using a feeding pump to slow feed him at night. He put on a few kilos of weight in face and abdomen. In Brazil, we lost support for the feeding tube. Supplies were difficult, if impossible to come by. We continued using the supplies we had, washing and reusing feeding bags. Eventually we used our last Mic-key button and after that started weaning him from the night feeds.
   2. After arriving in Brazil, we noticed that he began craving salt and eating packets of it whenever he could get his hands on it. 
   3. I found him an endocrinologist and she felt like he had an adrenal disorder, involving insufficient cortisol. We did an ACTH challenge and it showed a marginal response. I didn’t think much and his doctors were reassured.
   4. Two months later… back in the emergency department and my son’s blood glucose is 10 mg/dl and his cortisol is 5 and ACTH undetectable. Diagnosis: Central adrenal failure
   5. This is not everything. He is now 14 years old and below the 1st percentile in height and weight. I’m convinced there is more to his story and hopefully more that can be done to help him.
5. We are now in the US and trying to get some answers. They may never materialize, but as long as he continues to grow and thrive I am happy.