Santiago, Isovaleric Acidemia, Age 5 months
I had a relatively smooth pregnancy and birth, so the whirlwind of Santiago’s first couple weeks of life were quite unexpected.
It was discovered Santiago was breech the day before my due date. I was scheduled for a C-section the next morning on August 20, 2020. My husband Rodrigo and I were living in the small city of Prince Rupert, on the north coast of B.C., Canada in the Great Bear Rainforest, where I was working as a Registered Nurse. I had the strange but somewhat comforting experience of giving birth surrounded by my colleagues at the 25 bed hospital at which I had previously worked. My C-section went smoothly. Santiago was exactly full term, weighed 3.72kg, appeared healthy, and was breastfeeding relatively well.
On the morning of August 22, 2020, the nurse took Santiago to the nursery to give me some much needed sleep. I woke up a few hours later and Santiago had not been returned to my room. The nurse had discovered that he was breathing rapidly, so she had called in the locum pediatrician to assess him. Santiago’s newborn screening had been done 24 hours after his birth but the results were not ready yet. What we did not know at the time was that his rapid breathing was his way of blowing off excess acid from his body in the form of CO2. This was to compensate for the metabolic acidosis he was entering.
I was stunned when I went into the nursery to find Santiago under the warmer with an IV infusion in his arm. The pediatrician told us that Santiago was not doing very well but she was not sure what was wrong. She ordered bloodwork and a chest X-ray for him. She queried that perhaps he had sepsis. It was determined that the best plan would be to medevac Santiago to the NICU in Prince George, northern BC’s largest centre.
The journey out involved many steps and was difficult for me with my fresh cesarean. Santiago and I were brought into an ambulance, which took us to a helicopter, which flew to the airport on a nearby island, on which we boarded a tiny plane that took us to Prince George. The plane was too small for my husband to join, so Rodrigo drove the 8 hours to Prince George. My mom lived in Prince George but had come to stay in Prince Rupert for some months to help us out with Santiago, so she joined Rodrigo on the trip. My mom had not yet been able to meet her grandson because of the hospital pandemic precautions.
Santiago had lots of bloodwork done in Prince George. Sepsis was ruled out and it was thought that he probably had some kind of metabolic disorder. The pediatricians asked us whether there were any incidences of metabolic disorders, SIDS, or infant deaths in our families (there are none), or whether Rodrigo and I are related by blood (we’re not).
Santiago’s bloodwork responded poorly when we tried breastfeeding again, so he had to keep receiving his nutrition through IV infusion only. He had a nasogastric tube inserted as a precaution and in preparation for possible tube feeds. I pumped every 3 hours or so to establish my milk supply. A diagnosis could not be determined from the relatively small hospital of Prince George, it was decided we had to be medevac’d again, this time to B.C. Children’s Hospital in Vancouver.
Rodrigo drove another 9 hours from Prince George to Vancouver after Santiago and I were medevac’d. Santiago and I arrived around midnight to a bright, clinical NICU room at the BC Children’s Hospital. I felt dazzled by the state of the art facility but also disconcerted that Santiago’s level of care had to be elevated.
The Biochemical team introduced themselves to us the next day. Eventually Santiago was able to feed a special mix of medical formulas and expressed breast milk orally every 3 hours, while still keeping the IV running. The dieticians were continuously amending his formula recipe in response to his bloodwork. His frequently-used veins led to many failed “pokes'' and caused him a lot of upset.
A couple of days after our arrival, the Biochemical team doctors gave us the diagnosis of Isovaleric acidemia (IVA). A part of me was relieved to have an answer as to what was wrong with Santiago. Another part of me was incredulous that this mysterious disorder I had never heard of was affecting my baby.
Even with the diagnosis, we really struggled to understand what life for Santiago would look like. The Biochemical team’s doctors, dieticians, and nurses gave us thorough education, but in our sleep-deprived and stressed-out states we kept having to ask that information be repeated to us again because we had so much trouble comprehending. We had difficulty understanding what his lifelong diet would look like and how a person could be expected to grow “normally” with such a protein-restricted diet.
Santiago was discharged on September 1, 2020, after his bloodwork stabilized and a head ultrasound ruled out any brain damage from having had high ammonia levels. The dieticians determined his suitable formula recipe and he demonstrated he could tolerate the required volume of his feeds. He was put on glycine and levocarnitine for medication and Pro-Phree and I-Valex 1 in his formula. He would be unable to nurse because his protein intake needed to be monitored. I opted to exclusively pump as a way to give him a measured amount of breastmilk.
We had only been hospitalized for about 2 weeks, but it felt like months! Now we had to make our way back to our home in Prince Rupert. The best route was still a challenging one to do with a fresh-from-the-NICU baby--taking a 3 hour ferry from Vancouver to Vancouver Island, spending a night in a hotel, driving 7 hours to another city on the other side of the island, and then boarding a 20 hour ferry. Throughout these various legs of the trip Santiago had to feed every 3 hours and I had to pump every 3 hours. We were terrified he would suddenly decompensate on the ferry, on which there is no cell service and we would be unable to reach the Biochemical team for guidance. Thankfully, Santiago did very well on the trip. In Prince Rupert, my parents were finally able to meet their grandson.
Santiago’s health remained stable after our return home. He had one period of poor feeding which led to an ER visit, where it was discovered his bloodwork was a little off. He improved after a couple days of feeding his sick day formula in smaller volumes every 2 hours.
Santiago needed weekly weights and regular bloodwork. The bloodwork proved quite challenging at the rural hospital that was unaccustomed to pediatric patients and to sending out ammonia samples. His blood draws were usually very difficult and lengthy. On more than one occasion the sample was incorrectly shipped out for analyzing. The results were always high but deemed to likely be “false” because his clinical presentation was stable.
Despite Santiago’s seemingly good health, we were disturbed by the fact we were never able to get accurate ammonia results. We also knew there would inevitably come a time when he would get sick and need specialized care which was unavailable in Prince Rupert. We decided to move to Vancouver to be close to the BC Children’s Hospital. We had lived in Vancouver for many years so we were familiar with the city. We moved in December, 2020 when Santiago was 4 months old. To this day, Santiago has been very stable, but it is a huge relief to know that if something happens, the Biochemical team is just a short drive away!
Santiago did not suffer a severe metabolic crisis, thanks to the newborn screening and the dedicated, competent Biochemical team and other healthcare professionals involved in his care. Our main point of contact in his care has been his dietician, who is incredibly patient and responsive to our needs.
I like to say Santiago is special because he is always going against the norm--only 4% of term babies are breech, only 4% are born on their due date, and only 1 in every 250,000 has IVA. I am also pretty sure most babies don’t ride in an ambulance, helicopter, two medevac planes, and overnight ferry all within their first couple weeks of life! Santiago is resilient, bright-eyed, and playful, and I am sure he will keep surprising us.
Vancouver, B.C. Canada
From the Spring 2021 OAA Newsletter