Hi everybody. We are delighted for the opportunity to share our story with the OAA family, hoping that it may help other families to go through a diagnosis of a metabolic disorder.
My son Gabriel was born in London 3 years ago. Being our first, long-awaited child, we were ecstatic when he arrived. He was gorgeous! The main thing I noticed when Gabriel came out was that he didn’t cry. That was odd to me but nobody seemed particularly worried about it since his APGAR scores were excellent. To this date, we still don’t know if he was already in trouble the minute he was born. The only “real” problem that he had at birth was that he was very big, and his blood sugar was a bit low. I immediately tried to breastfeed him, but he nurses thought he hadn’t had enough and encouraged him to take his very first milk bottle.
I was very eager to breastfeed Gabriel but the first night of breastfeeding was exhausting for both of us, as Gabriel would take at least one hour and a half each time, and he wanted to eat every two hours. In addition, he didn’t seem to cry like the other babies in the ward (there were 10 beds per ward and all of the women would breastfeed). Being a first-time mom I thought this was quite tough and exhausting but decided that I needed to put more effort into it.
The second night was even worse. I said to the nurses that he was grunting a lot all the time and the nursing was not really like the other babies. They ignored me completely (several of them through the night), and suggested that it was normal or that I didn’t have enough milk for the baby. In the morning, Gabriel finally fell asleep in my arms after a long night of trying and trying to breastfeed. I put him in his cot to rest. When the morning nurse came to take my blood pressure, I said to her that the baby didn’t seem happy breastfeeding. She then noticed his grunting and that his chest was moving up and down very fast (something the other nurses didn’t care about). I will always remember the name of that nurse, Marcy, a nurse that came from Gambia (West Africa) for training in the UK. She immediately called the pediatrician from the NICU unit, who came right away and decided to take Gabriel away for further observation. That was the beginning of our journey with an organic acidemia.
We visited Gabriel a few hours later at the emergency unit and he would still look gorgeous (all of the babies down there were premature, really, really tiny!). No-one would have said that he had been very acidotic and that his ammonia had been quite high. The NICU doctors did a wonderful job stabilizing Gabriel very quickly and bringing his ammonia down. They said that a few more hours would have been fatal. The pediatrician in charge then asked me if I had taken cocaine or other drugs that could explain Gabriel entering into such a deep crisis. After the results of most of the tests came back (spinal tap, EEG, blood work, urine, heart, lungs…), they suspected Gabriel might have something metabolic and contacted the metabolic unit at Great Ormond Street Hospital for Children, a hospital that specializes in rare diseases and was (luckily!!!) a few blocks from where we were.
They ordered to test for urine organic acids and to have Gabriel transferred to their unit. That afternoon, the doctor broke the news of a possible metabolic disorder to us at the maternity ward. We were really shocked! We went home with a deep sadness and returned the next day after to discover that Gabriel had already been transferred to the metabolic ward. We met with his doctor, Prof. Leonard, a very knowledgeable and kind man, who was so admired and respected by the fellows, students and nurses. A few months later we understood why. Prof. Leonard said that we needed the result from the organic acids but that they suspected, on the basis of the pattern of blood amino acids, a diagnosis of propionic acidemia. He also suggested us to go to the web and find out information about it, read it and come back the day after with questions. We were still in denial and shock and to read all that information in the middle of the night with the empty crib in our room didn’t help at all.
The days passed and Gabriel started recovering slowly, they removed the IV, put an NG-tube and started giving him a mixture of sugar (Maxijul, the British equivalent of Polycose) and baby milk. They would add a bit more milk everyday to see how his tolerance was. Later on, that was substituted by breast milk. And a bit later on, the NG-tube was removed and I started breastfeeding. Now, he was a much, much happier baby than at birth. What a change!
We were sent home after 15 days in hospital and with a big bunch of papers and emergency protocols and information in case Gabriel happened to get sick. Two months passed and Gabriel seemed to be growing very well. At two and a half months, his first vaccination took place: a combination of 5 vaccines given in two shots, all the same day. A few days later Gabriel got into trouble: he started vomiting very violently in the middle of the night. He looked so pale that I thought he was dying! We rushed to the emergency protocols and started giving him sugar for a few hours. He seemed better and 24 hours later he started recovering. But then, I noticed that he started sleeping a lot everyday, especially in the mornings. At our monthly clinic that Friday nothing unusual was noticed. Prof. Leonard was happy to see what we had done and no special adjustments were made. However, I noticed Gabriel was not quite the same. Another week passed and I realized he had not been smiling anymore since his vomiting episode. I called the metabolic ward to see if I could do anything. After consultation, the nurse that had helped Gabriel during his first crisis said to keep an eye and call back if he vomited again. That never happened and I didn’t call back (I still wonder why I didn’t do it).
Days later Gabriel was also getting constipated. He would not wake up to nurse, he wouldn’t nurse in the morning and then at night he would want to breastfeed to much. He was again grunting. When I mentioned all his sleepiness to the nurses and pediatricians of our regular visits, they would say it was quite normal for young babies to sleep a lot, not to nurse too much, and not to be very happy when they were constipated. When my husband came home from work in the evenings, Gabriel would start being very awake again. So he would find him actually quite well.
Two more weeks passed and another time for vaccination arrived. After that, Gabriel got even worst, he would still fix his eyes and looked like a nice baby but somehow he wouldn’t put any weight on. Nobody thought he was sick (he was a “good baby”), but I was still worried since he didn’t seem to be too active, still very sleepy. And he still didn’t smile. When Prof. Leonard saw him at the metabolic clinic (two months after the first immunization), he immediately noticed that something was not quite right. Gabriel was excessively floppy and he was not happy at all. He was admitted to hospital two days later. After all the proper tests were done, we found out Gabriel was not very stable metabolically. But he wasn’t terribly bad! He was stabilized with IV glucose and started him back to milk in a few days. They concluded he was not having enough milk with the breastfeeding and prescribed 1 L of milk/day. He put weight very rapidly (he grew in three weeks the equivalent to three months!) However, something else had to explain the floppiness that he still had and the lack of smile.
An MRI was ordered and the result was inconclusive. Then an EEG was ordered and the result shocked us, as Gabriel was showing an amazing amount of abnormal brain activity (hypsarrhythmia). A neurologist visited Gabriel and he prescribed anticonvulsants right away although Gabriel had never had a visible seizure before. The first drug, carbamazepine, had effect four days later, although it wasn’t the effect we expected: Gabriel started having fits. He would roll his eyes a bit and lift his two arms slowly. This would last for some seconds and stop. First, he would do it for two times a day, then four, then eight and every day he was having more and more episodes. It was so horrible to watch! His smile was still not back. The neurologist then added phenytoin. This drug changed the seizure pattern, making them a bit more frequent, but there would not be any improvement.
At that time, after three weeks in hospital and with Gabriel totally stable metabolically, we were sent home. The doctors wanted to think about what to do, but they didn’t think Gabriel had to stay in hospital. He was taking his liter of milk nicely from the bottle and we went home two days before Christmas having cancelled all our holiday arrangements. Gabriel looked much healthier but was still having lots of fits. Now, he would cry after each episode, as he was beginning to be conscious that something bad was happening to him. After the holidays, we wanted to stop all the medicines, as we didn’t see any positive effect. Prof. Leonard agreed and suggested another neurologist from the hospital: Dr. Helen Cross, a specialist in child epilepsy. We got an appointment three days later. After explaining Gabriel’s behavior and history to her, she immediately diagnosed him with infantile spasms, a rare form of child epilepsy with high chances to cause developmental delays and more epilepsy later in life. She put him on vigabatrin and started to wean him from the other anticonvulsants slowly. If nothing happened after three days, she would increase the dose. If still nothing happened, she would change the treatment to steroids (something no-one was happy about because of all the metabolic implications).
I cannot tell you how miraculous that drug was. After 24 h on vigabatrin, Gabriel stopped completely having fits. After 48 h, he started smiling again. After three months, it was such an unbelievable day! I took so many pictures! Gabriel continued improving by the day. He would start developing and recovering quite fast. We didn’t have to use the full dose of the drug since he responded so well. Things continued improving all the subsequent months, although Gabriel was developmentally quite delayed and all his milestones were not achieved on time.
Coincidentally to the effect of the vigabatrin, Gabriel started drinking less and less formula every day and a nasogastric tube was put in place to ensure he would get all his formula requirements. We had introduced solids at 6 months of age when we left hospital and, although he was initially very happy eating them, his consumption of solids was also declining by the day. Every time we had to feed him, it started to become a huge struggle. That winter, Gabriel was admitted to hospital approximately every two weeks. First with RSV infection, then asthma-like symptoms, then another cold… I was losing so many days of work to be with him at hospital!! Luckily, we went always home after two nights. His ammonia levels recovered quite quickly every time, and he would stop vomiting after 24 h of protein-free formula. Also at 1 year of age his dietitian changed him to a new formula based on Maxijul, vitamins and Pediasure. The change from baby milk to Pediasure dramatically reduced the constipation problems he had had in the past (who knows why).
At 12 months of age, Gabriel was weaned off the vigabatrin. He never showed signs of epilepsy again and he was still progressing, although quite slowly. At the same time, by 15 months, a developmental pediatrician evaluated him and, although Gabriel was at the low end of the curve, the doctor wanted to give him a chance to develop by himself now that he was doing so well metabolically. Unfortunately, Gabriel suddenly stopped developing and, by 18 months, he had not made any progress from the previous visit. He didn’t look unhappy, sick or epileptic; he just wouldn’t do anything new. Therapy was recommended but we had planned to move to New York two months later so therapy had to wait.
At around that time, his NG-tube was replaced by a G-tube. That month, Gabriel stopped eating all solids because he would have difficulty swallowing anything. We got scared and stopped also offering any food. The problems related the G-tube that we encountered during the first month (lots of reflux and vomiting) resolved slowly. We found out that Gabriel tolerated much better his feedings if he seated at an angle. His stroller was perfect for this. Feeding therapy was on hold because of our moving to the United States.
When we arrived in New York, and entirely out of the blue, Gabriel started developing again. He would even start some word approximations. At 18 months of age he was not walking yet and wouldn’t do it for another 6 months. However, he started to have therapies with the Early Intervention Program and that made a huge difference. Unfortunately, three months later his speech regressed and never developed beyond making a few sounds. Although Gabriel looked quite happy overall he would be very silent for most of the day. In terms of hospital visits, he was admitted at Mount Sinai for minor infections and had to stay in hospital for several days after a change in diet made him very sick. After that, more than a year ago, Gabriel has remained out of the hospital. We have learned to manage him at home every time he vomits or looks inactive, sleepy or just strange, following the initial emergency protocol we were given in London when Gabriel was first diagnosed. That has worked every time during all these three years (20% Polycose, administered at a rate of 60 mL per hour).
Gabriel travels often to see his grandparents in Mexico and Spain (he’s been doing it since he was 2 months-old). He gets a bit sick because of the tiredness, but we just give him some of the emergency formula while and after traveling and that helps tremendously. He is a curious and active boy who loves to go to the playground and the Children’s Museum in Manhattan. His major challenges are speech (he has made very limited progress despite all the therapy he’s received) and hypotonia, but he is now doing very well and keeps progressing at a steady pace. He goes to clinic once every six months to Children’s Hospital of Philadelphia, followed by Dr. Paige Kaplan, and despite getting ill with common infections he has never been acidotic again. He is fed 100% via the G-tube with a formula that contains Polycose, vitamins and Pediasure. He takes 5 cc of carnitine twice a day.
We would love to see Gabriel eating by mouth one of these days and we are trying very hard with different strategies (oral/motor and sensory integration techniques). He has received intensive therapies at home for a whole year with the Early Intervention Program but now he just started in a special education preschool program with 2 x OT, 3 x ST and 2 x PT. We are all very excited about school, as we feel he desperately wants to interact with other children. He is making progress by the day and although still functions with delay he is a sweet and lovable boy. When we started him on oral/motor therapy, he started making many more sounds and some word approximations in all three languages he hears (Catalan, Spanish and English). I don’t think he’s ever been so happy! A recent 24 h EEG showed no traces of any abnormal activity in his brain at all. Recently, Gabriel is finding a lot of joy with his little brother, Alex, born a year ago and tested for propionic acidemia with Newborn Screening (through the Pediatrix test). Alex is unaffected. We hope this year continues to be as amazing for Gabriel as has been so far. He is so eager to play and learn and enjoy life. We totally embrace his happiness and hope it will last for many years to come.
Marisa and Juan Carlos
Mom and Dad to Gabriel, 3, propionic acidemia
Mom runs NY Marathon