Written by Faye Amado
This is the story of my child who is a brave fighter in her life and continues to fight to survive and be normal as she grows up. I am Faye Amado, mother of Alexandra Keila Barrido. We live in Iloilo City, Philippines.
December 5, 2018:
I gave birth to a baby girl. Her name is Alexandra Keila Barrido. She is my second child. When my baby was 24 hours old, she was given a newborn screening by pricking her feet to be tested.
December 9, 2018:
We were discharged from the hospital because Alexa and I were doing well. I had given birth to Alexa by cesarean section.
December 11, 2018:
At 6:00pm at night I received a call from the newborn screening center.
I spoke to one of the staff and the doctor, Roxanne. They asked me how the baby was. I said she was fine, but the person I spoke to explained that my daughter needed to be taken to the emergency room at the hospital because her results were urgent, and her leucine levels were too high. It turned out that Alexa had maple syrup urine disease. I was not familiar with maple syrup urine disease, but I was nervous, and my world felt like it was collapsing because they told me that my child should be taken care of immediately because otherwise, she would die. They immediately called the Rural Health Center where we live, and they told me that they could get an ambulance to pick me up so they could take my daughter to the hospital immediately. They had a hard time locating me and calling me that day because my cellphone was broken.
By the grace of God, the ambulance found me and arrived and rushed us to the hospital.
When we arrived at the emergency room, she was immediately examined, and Alexa had a blood sample and laboratory test taken. One of the things I was wondering was why the doctors were smelling her, including her earwax and diaper. The doctor who was talking to me was my child’s doctor, Dr. Eaden.
He told me about Alexa’s illness and asked me how she was doing. Was she sleeping and drinking milk? Had I noticed anything strange? I replied that what I had noticed about her was that she often slept. I said, “Doc, I thought it was normal for babies to sleep longer.”
When we were in the hospital when I gave birth to her, they asked me to breastfeed her. She didn’t seem to want to. She sucked a little. My mother said, “Let’s try buying a bottle and a pump.” I also breastfed her, but she couldn’t finish it. And when we were in the ER, the doctor gave me milk called “BCAD 1 for MSUD medical formula.” I was given instructions on how to prepare it. I mixed the milk, I gave it to Alexa and made her drink a little bit. She drank it until she really didn’t want it anymore. I noticed that the poor suck was gone.
The intensive care unit was prepared to admit Alexa there to be monitored because her results were 3000 leucine levels, which is too high.
She was sleeping a lot, crying a little and not moving much. She was not intubated, but her eyes were swollen, and she almost didn’t open her eyes.
The doctors called me and told me that Alexa needed to undergo peritoneal dialysis immediately, so her father and our relatives talked to me about how we could keep her alive. We would do anything and I also asked the doctor if the operation to insert the Tenckoff catheter would be successful so that dialysis could start, and Alexa could be taken care of immediately.
The insertion operation was successful, and they started dialysis immediately. After a few weeks of dialysis, Alexa, by the grace of God, woke up and became more active. Her levels are now around 300. I am so happy, and I thank God that He listened to my prayers. The doctor was able to remove the Tenckoff catheter again and the operation was also successful.
A few weeks later, they took another blood prick from her feet for another newborn screening and to monitor if her levels were still stable and normal. They checked Alexa’s blood sample, and the result came out to be around 2900. Her levels were so irritable that she had a second metabolic crisis. She had to have blood transfusions several times because her hemoglobin was so low.
They immediately prepared Alexa for another surgery to insert a new Tenckoff catheter. She continued dialysis until her levels were okay again, but she was still under close monitoring. Everything we were going through, I knew God had a reason…
The doctor decided to remove Alexa’s catheter and she would stay in the ICU again for almost three months. We had been through so much, but I said I would not give up because I saw my daughter fighting. Why should I give up? At the end of February 28, 2019 we were discharged, and I also knew how to feed Alexa. The doctors inserted an OGT tube in her throat to help her get her formula.
March 20, 2019:
She was admitted again because of pneumonia and vomiting and metabolic crisis again. We were in the hospital for one month until she was discharged. Alexa also had many incidents in which she was rushed to the ER because she was also diagnosed with asthma.
Even when she was admitted for chicken pox when she was nine months old, her levels also increased. Any period of physical stress can cause her levels to go too high. She has had to go so much that I don’t remember all of the exact dates. But most of her admissions were because of pneumonia, asthma, vomiting, poor sucking, and weakness. During the height of the pandemic, Alexa also got COVID. I wondered what would happen to her, but the Lord God didn’t abandon us. Alexa still fought and after 14 days she was okay.
Alexa also has global developmental delay from her high early levels of amino acids. She also underwent long physical therapy to be able to walk. Now Alexa is five years old and is also studying in a special education class. I am praying one day that she will be able to do speech therapy so that she can speak. She still does not speak because speech therapy is too expensive for us.
Alexa is closely monitored by newborn screening and her doctors. She has monthly check ups and blood tests to monitor her levels. I measure all her food and keep to the very strict diet. I hope one day there will be a cure for children with MSUD, even if it’s just to control their leucine levels.
Maple syrup urine disease is a genetic disorder. Both parents are carriers of the disease. Her father and I were not familiar with the disease. It affects about one in every 185,000 newborns but there are some populations with higher incidents. The two carriers from the parents pass the disease to the child. The child with MSUD is the affected one. When both parents are carriers there is a 25% chance that each child will get the disease and a 50% chance that a child will be a carrier of the disease.
The child with MSUD must immediately undergo early treatment to prevent the death of the baby. The symptoms of MSUD are lethargy, seizures, poor sucking, long sleep, and urine, sweat, and earwax that smells like maple syrup. The baby has body aches and muscle spasms and is weak. There is no cure for it, but others undergo liver transplants. I still do not know if my son is a carrier. If he is I pray that the woman he marries is not so that they do not have a risk of having a child with MUSD.
